#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
RPGRIP1L	23322	broad.mit.edu	37	16	53730090	53730090	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr16:53730090G>A	ENST00000379925.3	-	3	253	c.203C>T	c.(202-204)gCc>gTc	p.A68V	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.A68V|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.A68V|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.A68V|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.A68V|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.A68V	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	68					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				CTGCTTGCGGGCATGCTGTTT	0.373																																						ENST00000262135.4																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46						c.(202-204)gCc>gTc		RPGRIP1-like							129.0	132.0	131.0					16																	53730090		2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53730090G>A		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.203C>T	16.37:g.53730090G>A	ENSP00000369257:p.Ala68Val					RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.A68V|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.A68V|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.A68V|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.A68V|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.A68V	p.A68V	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN			3	296	-		all_cancers(37;0.0973)	68					A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.203C>T	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960376	0.92791	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	D;D	0.82893	-1.66;-1.66	5.73	5.73	0.89815	.	0.121316	0.56097	D	0.000032	D	0.90466	0.7014	M	0.68952	2.095	0.44798	D	0.9978	D;D;D;D	0.76494	0.97;0.97;0.998;0.999	P;P;D;D	0.72075	0.78;0.78;0.948;0.976	D	0.89417	0.3707	10	0.46703	T	0.11	-8.6039	19.8956	0.96956	0.0:0.0:1.0:0.0	.	68;68;68;68	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	V	68	ENSP00000369257:A68V;ENSP00000262135:A68V	ENSP00000262135:A68V	A	-	2	0	RPGRIP1L	52287591	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.063000	0.71162	2.708000	0.92522	0.563000	0.77884	GCC		0.373	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		4	105	0	0	0	1	0	4	105				
USP37	57695	broad.mit.edu	37	2	219418330	219418330	+	Missense_Mutation	SNP	C	C	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:219418330C>G	ENST00000258399.3	-	5	686	c.274G>C	c.(274-276)Gca>Cca	p.A92P	USP37_ENST00000454775.1_Missense_Mutation_p.A92P|USP37_ENST00000338465.5_Missense_Mutation_p.A92P|USP37_ENST00000418019.1_Missense_Mutation_p.A92P|USP37_ENST00000415516.1_Missense_Mutation_p.A20P	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	92					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		ATTTCCTCTGCATCCTTACTT	0.433																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(274-276)Gca>Cca		ubiquitin specific peptidase 37							148.0	128.0	134.0					2																	219418330		2203	4300	6503	SO:0001583	missense	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219418330C>G	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.274G>C	2.37:g.219418330C>G	ENSP00000258399:p.Ala92Pro					USP37_ENST00000415516.1_Missense_Mutation_p.A20P|USP37_ENST00000454775.1_Missense_Mutation_p.A92P|USP37_ENST00000338465.5_Missense_Mutation_p.A92P|USP37_ENST00000418019.1_Missense_Mutation_p.A92P	p.A92P	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	5	686	-		Renal(207;0.0915)	92					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	ENST00000258399.3	37	c.274G>C	CCDS2418.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489167	0.84962	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019;ENST00000338465	T;T;T;T;T	0.55588	0.59;0.59;0.54;0.59;0.51	5.19	5.19	0.71726	.	0.120254	0.56097	D	0.000038	T	0.71467	0.3343	M	0.71036	2.16	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.71414	0.973;0.952;0.92	T	0.74856	-0.3522	10	0.72032	D	0.01	-12.1069	16.8923	0.86090	0.0:1.0:0.0:0.0	.	92;20;92	Q86W68;Q86T82-2;Q86T82	.;.;UBP37_HUMAN	P	92;92;20;92;92	ENSP00000258399:A92P;ENSP00000393662:A92P;ENSP00000400902:A20P;ENSP00000396585:A92P;ENSP00000345043:A92P	ENSP00000258399:A92P	A	-	1	0	USP37	219126574	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.932000	0.63476	2.433000	0.82419	0.561000	0.74099	GCA		0.433	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		3	67	0	0	0	1	0	3	67				
TAF1L	138474	broad.mit.edu	37	9	32631824	32631824	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr9:32631824G>A	ENST00000242310.4	-	1	3843	c.3754C>T	c.(3754-3756)Cgg>Tgg	p.R1252W	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	1252					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)	p.R1252W(1)		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)		CGCTTAAGCCGCCTCAGTTGC	0.448																																						ENST00000242310.4																			1	Substitution - Missense(1)	p.R1252W(1)	breast(1)	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.(3754-3756)Cgg>Tgg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							92.0	90.0	91.0					9																	32631824		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.chr9:32631824G>A	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.3754C>T	9.37:g.32631824G>A	ENSP00000418379:p.Arg1252Trp						p.R1252W	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	3843	-			1252					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.3754C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809308	0.50421	.	.	ENSG00000122728	ENST00000242310	T	0.66099	-0.19	1.04	1.04	0.20106	.	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	L	0.54323	1.7	0.58432	D	0.99999	D	0.89917	1.0	D	0.97110	1.0	T	0.65837	-0.6071	10	0.87932	D	0	.	4.2195	0.10551	0.0:0.0:0.605:0.395	.	1252	Q8IZX4	TAF1L_HUMAN	W	1252	ENSP00000418379:R1252W	ENSP00000418379:R1252W	R	-	1	2	TAF1L	32621824	0.996000	0.38824	0.995000	0.50966	0.426000	0.31534	0.577000	0.23758	0.507000	0.28148	0.195000	0.17529	CGG		0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			40	81	0	0	0	1	0	40	81				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		4	55	0	0	0	1	0	4	55				
MUC5B	727897	broad.mit.edu	37	11	1248357	1248357	+	Silent	SNP	C	C	T	rs370483469		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr11:1248357C>T	ENST00000529681.1	+	5	616	c.558C>T	c.(556-558)aaC>aaT	p.N186N	MUC5B_ENST00000447027.1_Silent_p.N186N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	186	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCTGTGGAACGGAGAGGACA	0.662																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(556-558)aaC>aaT		mucin 5B, oligomeric mucus/gel-forming		C		1,4039		0,1,2019	35.0	39.0	38.0		558	-1.2	0.3	11		38	0,8322		0,0,4161	no	coding-synonymous	MUC5B	NM_002458.2		0,1,6180	TT,TC,CC		0.0,0.0248,0.0081		186/5763	1248357	1,12361	2020	4161	6181	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1248357C>T	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.558C>T	11.37:g.1248357C>T						MUC5B_ENST00000529681.1_Silent_p.N186N	p.N186N			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	5	616	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	186			VWFD 1.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.558C>T	CCDS44515.2																																																																																				0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		8	25	0	0	0	1	0	8	25				
IL1RL1	9173	broad.mit.edu	37	2	102968056	102968056	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:102968056C>T	ENST00000233954.1	+	11	1617	c.1346C>T	c.(1345-1347)aCc>aTc	p.T449I		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	449	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TTCATCCTGACCCCTCAGATC	0.463																																						ENST00000233954.1																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(1345-1347)aCc>aTc		interleukin 1 receptor-like 1							90.0	83.0	85.0					2																	102968056		2203	4300	6503	SO:0001583	missense	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102968056C>T	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.1346C>T	2.37:g.102968056C>T	ENSP00000233954:p.Thr449Ile						p.T449I	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN			11	1617	+			449			TIR.		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	c.1346C>T	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593989	0.46214	.	.	ENSG00000115602	ENST00000233954	T	0.03212	4.01	5.36	4.41	0.53225	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.366911	0.25130	N	0.032901	T	0.18002	0.0432	M	0.82323	2.585	0.28733	N	0.902381	D	0.59767	0.986	D	0.65573	0.936	T	0.00802	-1.1560	10	0.72032	D	0.01	.	14.1246	0.65213	0.1818:0.8182:0.0:0.0	.	449	Q01638	ILRL1_HUMAN	I	449	ENSP00000233954:T449I	ENSP00000233954:T449I	T	+	2	0	IL1RL1	102334488	0.807000	0.29009	0.813000	0.32504	0.480000	0.33159	2.472000	0.45136	2.500000	0.84329	0.455000	0.32223	ACC		0.463	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		22	46	0	0	0	1	0	22	46				
PTPN18	26469	broad.mit.edu	37	2	131116856	131116856	+	Missense_Mutation	SNP	G	G	A	rs377115203		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:131116856G>A	ENST00000175756.5	+	3	354	c.253G>A	c.(253-255)Gac>Aac	p.D85N	PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	85	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					GGGACACAGCGACTACATTAA	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20649	0.0		0.0	False		,,,				2504	0.0					ENST00000175756.5																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(253-255)Gac>Aac		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)							98.0	100.0	99.0					2																	131116856		2203	4300	6503	SO:0001583	missense	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131116856G>A	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.253G>A	2.37:g.131116856G>A	ENSP00000175756:p.Asp85Asn					PTPN18_ENST00000347849.3_Intron|PTPN18_ENST00000420717.1_3'UTR	p.D85N	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			3	354	+	Colorectal(110;0.1)		85			Tyrosine-protein phosphatase.		B4E1E6|Q53P42	Missense_Mutation	SNP	ENST00000175756.5	37	c.253G>A	CCDS2161.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459717	0.63401	.	.	ENSG00000072135	ENST00000175756;ENST00000409022	T	0.16073	2.37	4.38	3.48	0.39840	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.35936	N	0.002883	T	0.37293	0.0998	M	0.70903	2.155	0.49915	D	0.999837	D;D	0.89917	1.0;1.0	D;D	0.74674	0.971;0.984	T	0.11991	-1.0565	10	0.52906	T	0.07	.	10.9296	0.47209	0.0:0.191:0.809:0.0	.	85;85	E7EMB8;Q99952	.;PTN18_HUMAN	N	85	ENSP00000175756:D85N	ENSP00000175756:D85N	D	+	1	0	PTPN18	130833326	0.995000	0.38212	0.807000	0.32361	0.439000	0.31926	2.575000	0.46025	1.129000	0.42072	0.591000	0.81541	GAC		0.552	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			15	82	0	0	0	1	0	15	82				
ZNF883	169834	broad.mit.edu	37	9	115760059	115760059	+	lincRNA	SNP	T	T	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr9:115760059T>G	ENST00000427548.1	-	0	1754							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CGGCTGAAGGTTTTTCCACAT	0.398																																						ENST00000427548.1																			0													zinc finger protein 883							104.0	103.0	103.0					9																	115760059		2157	4282	6439			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115760059T>G	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760059T>G										P0CG24	ZN883_HUMAN			0	1754	-									RNA	SNP	ENST00000427548.1	37																																																																																						0.398	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338		6	51	0	0	0	1	0	6	51				
AK8	158067	broad.mit.edu	37	9	135702410	135702410	+	Silent	SNP	G	G	A	rs200936362	byFrequency	TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr9:135702410G>A	ENST00000298545.3	-	8	1109	c.588C>T	c.(586-588)ccC>ccT	p.P196P	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	196	Adenylate kinase 1.|LID 1. {ECO:0000250}.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TTTCAGATTCGGGTGGCCAGT	0.542													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19721	0.0		0.001	False		,,,				2504	0.0					ENST00000298545.3																			0				NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						c.(586-588)ccC>ccT		adenylate kinase 8		G		1,4405	2.1+/-5.4	0,1,2202	160.0	155.0	157.0		588	-10.7	0.0	9		157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AK8	NM_152572.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		196/480	135702410	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135702410G>A	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.588C>T	9.37:g.135702410G>A						AK8_ENST00000477396.1_5'UTR	p.P196P	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN			8	1109	-			196					A8K821|Q8N9W9	Silent	SNP	ENST00000298545.3	37	c.588C>T	CCDS6954.1																																																																																				0.542	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		6	215	0	0	0	1	0	6	215				
XDH	7498	broad.mit.edu	37	2	31562436	31562436	+	Silent	SNP	C	C	T	rs201405596		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:31562436C>T	ENST00000379416.3	-	34	3741	c.3693G>A	c.(3691-3693)ccG>ccA	p.P1231P		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1231					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TGCCAAATGCCGGGATCTTGT	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20525	0.0		0.0	False		,,,				2504	0.0				Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(3691-3693)ccG>ccA		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						132.0	125.0	127.0					2																	31562436		2203	4300	6503	SO:0001819	synonymous_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31562436C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3693G>A	2.37:g.31562436C>T							p.P1231P	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			34	3741	-	Acute lymphoblastic leukemia(172;0.155)		1231					Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.3693G>A	CCDS1775.1																																																																																				0.592	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		11	30	0	0	0	1	0	11	30				
CCDC39	339829	broad.mit.edu	37	3	180378437	180378437	+	Missense_Mutation	SNP	C	C	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr3:180378437C>A	ENST00000442201.2	-	4	556	c.437G>T	c.(436-438)tGg>tTg	p.W146L	CCDC39_ENST00000273654.4_Missense_Mutation_p.W230L	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	146					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTCTTCTAACCAGGCCTCCAA	0.373																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(688-690)tGg>tTg		coiled-coil domain containing 39							106.0	95.0	99.0					3																	180378437		1842	4091	5933	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180378437C>A	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.437G>T	3.37:g.180378437C>A	ENSP00000405708:p.Trp146Leu					CCDC39_ENST00000442201.2_Missense_Mutation_p.W146L	p.W230L			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		10	1308	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		146					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.689G>T	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280212	0.80692	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	.	.	.	5.6	5.6	0.85130	.	0.108661	0.64402	D	0.000003	T	0.76062	0.3935	M	0.74881	2.28	0.47341	D	0.999397	D	0.62365	0.991	P	0.59643	0.861	T	0.71629	-0.4535	9	0.22109	T	0.4	-8.3073	19.2793	0.94046	0.0:1.0:0.0:0.0	.	146	Q9UFE4	CCD39_HUMAN	L	230;146	.	ENSP00000273654:W230L	W	-	2	0	CCDC39	181861131	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.261000	0.58841	2.653000	0.90120	0.585000	0.79938	TGG		0.373	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		8	6	1	0	1.58986e-06	1	1.6721e-06	8	6				
MSH3	4437	broad.mit.edu	37	5	80088578	80088578	+	Missense_Mutation	SNP	T	T	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr5:80088578T>G	ENST00000265081.6	+	19	2650	c.2570T>G	c.(2569-2571)aTt>aGt	p.I857S		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	857					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GAAAGAAAAATTGTAATAAAA	0.328								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2569-2571)aTt>aGt	Mismatch excision repair (MMR)	mutS homolog 3							72.0	77.0	76.0					5																	80088578		2202	4299	6501	SO:0001583	missense	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:80088578T>G	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2570T>G	5.37:g.80088578T>G	ENSP00000265081:p.Ile857Ser						p.I857S	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	19	2650	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	857					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	ENST00000265081.6	37	c.2570T>G	CCDS34195.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.768278	0.49680	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.87887	-2.31	5.41	5.41	0.78517	DNA mismatch repair protein MutS, core (1);DNA mismatch repair protein MutS, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94401	0.8199	M	0.90650	3.135	0.50813	D	0.999893	D	0.89917	1.0	D	0.91635	0.999	D	0.95256	0.8364	9	.	.	.	-17.7249	14.448	0.67364	0.0:0.0:0.0:1.0	.	857	P20585	MSH3_HUMAN	S	857;848	ENSP00000265081:I857S	.	I	+	2	0	MSH3	80124334	1.000000	0.71417	0.898000	0.35279	0.102000	0.19082	6.981000	0.76166	2.039000	0.60335	0.528000	0.53228	ATT		0.328	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		3	69	0	0	0	1	0	3	69				
NEUROD2	4761	broad.mit.edu	37	17	37762553	37762553	+	Silent	SNP	C	C	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr17:37762553C>A	ENST00000302584.4	-	2	520	c.300G>T	c.(298-300)cgG>cgT	p.R100R		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	100					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|cellular response to calcium ion (GO:0071277)|cellular response to electrical stimulus (GO:0071257)|cerebellar cortex development (GO:0021695)|negative regulation of synapse maturation (GO:2000297)|nervous system development (GO:0007399)|neuron development (GO:0048666)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			GCTTCTTGGGCCGCTCGCCCT	0.677																																						ENST00000302584.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8						c.(298-300)cgG>cgT		neuronal differentiation 2							33.0	27.0	29.0					17																	37762553		2203	4299	6502	SO:0001819	synonymous_variant	4761				cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr17:37762553C>A	U58681	CCDS11338.1	17q12	2013-05-21	2012-02-22		ENSG00000171532	ENSG00000171532		"""Basic helix-loop-helix proteins"""	7763	protein-coding gene	gene with protein product		601725	"""neurogenic differentiation 2"""			9119405	Standard	XM_005257409		Approved	NDRF, bHLHa1	uc002hry.3	Q15784	OTTHUMG00000133211	ENST00000302584.4:c.300G>T	17.37:g.37762553C>A							p.R100R	NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)		2	520	-	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		100					Q8TBI7|Q9UQC6	Silent	SNP	ENST00000302584.4	37	c.300G>T	CCDS11338.1																																																																																				0.677	NEUROD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256931.2	NM_006160		6	5	1	0	0.00116845	1	0.00116845	6	5				
KLHL10	317719	broad.mit.edu	37	17	40001966	40001966	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr17:40001966G>A	ENST00000293303.4	+	3	1426	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N	RP11-156E6.1_ENST00000560400.1_RNA	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	425					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				ACAGAGGAGTGATGCAAGCGC	0.493																																						ENST00000293303.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1273-1275)Gat>Aat		kelch-like family member 10							58.0	57.0	57.0					17																	40001966		2120	4238	6358	SO:0001583	missense	317719					cytoplasm		g.chr17:40001966G>A	AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.1273G>A	17.37:g.40001966G>A	ENSP00000293303:p.Asp425Asn						p.D425N	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN			3	1426	+		Breast(137;0.000162)	425					Q6NW28|Q96MC0	Missense_Mutation	SNP	ENST00000293303.4	37	c.1273G>A	CCDS42340.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917348	0.92249	.	.	ENSG00000161594	ENST00000293303	T	0.76316	-1.01	6.07	6.07	0.98685	Galactose oxidase, beta-propeller (1);	0.087208	0.85682	D	0.000000	D	0.84969	0.5590	L	0.46567	1.45	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.75020	0.921;0.985	T	0.82293	-0.0529	9	.	.	.	.	19.2231	0.93806	0.0:0.0:1.0:0.0	.	419;425	B4DXV2;Q6JEL2	.;KLH10_HUMAN	N	425	ENSP00000293303:D425N	.	D	+	1	0	KLHL10	37255492	1.000000	0.71417	0.963000	0.40424	0.941000	0.58515	9.147000	0.94646	2.885000	0.99019	0.655000	0.94253	GAT		0.493	KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467		34	39	0	0	0	1	0	34	39				
CFAP70	118491	broad.mit.edu	37	10	75051125	75051125	+	Missense_Mutation	SNP	G	G	A	rs141991496		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr10:75051125G>A	ENST00000310715.3	-	20	2428	c.2308C>T	c.(2308-2310)Cgg>Tgg	p.R770W	TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_Missense_Mutation_p.R239W|TTC18_ENST00000394865.1_Missense_Mutation_p.R770W|TTC18_ENST00000401621.2_Missense_Mutation_p.R770W|TTC18_ENST00000340329.3_Intron	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		770						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TGAAGCATCCGTGCCTGAAGC	0.423																																						ENST00000310715.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2308-2310)Cgg>Tgg		tetratricopeptide repeat domain 18		G	TRP/ARG	0,4406		0,0,2203	186.0	168.0	174.0		2308	3.4	0.3	10	dbSNP_134	174	2,8598	2.2+/-6.3	0,2,4298	no	missense	TTC18	NM_145170.3	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	770/1122	75051125	2,13004	2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75051125G>A																												ENST00000310715.3:c.2308C>T	10.37:g.75051125G>A	ENSP00000310829:p.Arg770Trp					TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_Missense_Mutation_p.R239W|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Missense_Mutation_p.R770W|TTC18_ENST00000394865.1_Missense_Mutation_p.R770W	p.R770W	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN			20	2428	-	Prostate(51;0.0119)		770					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.2308C>T	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139400	0.56936	0.0	2.33E-4	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000433268;ENST00000394865	T;T;T;T	0.34072	1.76;1.76;1.4;1.38	5.32	3.37	0.38596	.	1.364340	0.04451	N	0.372639	T	0.38665	0.1049	M	0.64997	1.995	0.09310	N	1	D	0.63046	0.992	B	0.42653	0.394	T	0.27157	-1.0082	10	0.39692	T	0.17	-7.9559	7.4894	0.27452	0.0895:0.0:0.747:0.1635	.	770	Q5T0N1	TTC18_HUMAN	W	770;770;770;177;770	ENSP00000310829:R770W;ENSP00000384479:R770W;ENSP00000409527:R177W;ENSP00000378334:R770W	ENSP00000310829:R770W	R	-	1	2	TTC18	74721131	0.092000	0.21681	0.324000	0.25361	0.179000	0.23085	1.945000	0.40273	1.388000	0.46506	-0.194000	0.12790	CGG		0.423	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				40	86	0	0	0	1	0	40	86				
ZMIZ2	83637	broad.mit.edu	37	7	44807185	44807185	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr7:44807185A>G	ENST00000309315.4	+	19	2849	c.2726A>G	c.(2725-2727)aAc>aGc	p.N909S	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.N883S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.N851S|ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.N877S|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.N909S	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	909					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTACGAACAACAATGACGAC	0.557																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2725-2727)aAc>aGc		zinc finger, MIZ-type containing 2							139.0	154.0	149.0					7																	44807185		2045	4183	6228	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44807185A>G	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.2726A>G	7.37:g.44807185A>G	ENSP00000311778:p.Asn909Ser					ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.N909S|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.N877S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.N851S|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.N883S	p.N909S	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			19	2849	+			909					A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.2726A>G	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	A	0.706	-0.788944	0.02884	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.25579	1.8;1.82;1.82;1.83;1.79	5.12	1.19	0.21007	.	0.230679	0.37623	N	0.002003	T	0.06645	0.0170	N	0.01168	-0.975	0.24906	N	0.992073	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.41610	-0.9499	10	0.02654	T	1	-8.5318	9.7329	0.40372	0.2867:0.0:0.7133:0.0	.	532;883;909;851	B3KR25;Q8NF64-2;Q8NF64;Q8NF64-3	.;.;ZMIZ2_HUMAN;.	S	851;909;909;877;883;912	ENSP00000409648:N851S;ENSP00000311778:N909S;ENSP00000414723:N909S;ENSP00000396601:N877S;ENSP00000265346:N883S	ENSP00000265346:N883S	N	+	2	0	ZMIZ2	44773710	1.000000	0.71417	0.759000	0.31340	0.484000	0.33280	1.226000	0.32563	0.066000	0.16515	-0.337000	0.08149	AAC		0.557	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		16	36	0	0	0	1	0	16	36				
GABRA4	2557	broad.mit.edu	37	4	46976285	46976285	+	Missense_Mutation	SNP	G	G	T	rs75640222		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr4:46976285G>T	ENST00000264318.3	-	6	1667	c.685C>A	c.(685-687)Caa>Aaa	p.Q229K		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	229					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GATACGGTTTGCCCAATCAAA	0.398																																					Ovarian(6;283 369 8234 12290 33402)	ENST00000264318.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(685-687)Caa>Aaa		gamma-aminobutyric acid (GABA) A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						122.0	112.0	116.0					4																	46976285		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46976285G>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.685C>A	4.37:g.46976285G>T	ENSP00000264318:p.Gln229Lys						p.Q229K	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN			6	1667	-			229					Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.685C>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100764	0.94245	.	.	ENSG00000109158	ENST00000264318	T	0.79033	-1.23	5.34	5.34	0.76211	Neurotransmitter-gated ion-channel ligand-binding (3);	0.054023	0.85682	D	0.000000	D	0.84750	0.5541	L	0.56769	1.78	0.54753	D	0.999989	D	0.55800	0.973	P	0.62089	0.898	T	0.82323	-0.0514	10	0.33940	T	0.23	.	18.22	0.89898	0.0:0.0:1.0:0.0	.	229	P48169	GBRA4_HUMAN	K	229	ENSP00000264318:Q229K	ENSP00000264318:Q229K	Q	-	1	0	GABRA4	46671042	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.657000	0.98554	2.774000	0.95407	0.650000	0.86243	CAA		0.398	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			12	122	1	0	5.50884e-06	1	5.60065e-06	12	122				
ZNF365	22891	broad.mit.edu	37	10	64136573	64136573	+	Silent	SNP	A	A	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr10:64136573A>G	ENST00000395254.3	+	2	901	c.621A>G	c.(619-621)aaA>aaG	p.K207K	ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Silent_p.K207K|ZNF365_ENST00000395255.3_Silent_p.K207K	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGACTCAGAAAAAGCAGGAAG	0.507																																						ENST00000395254.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(619-621)aaA>aaG		zinc finger protein 365							103.0	114.0	110.0					10																	64136573		2203	4300	6503	SO:0001819	synonymous_variant	22891							g.chr10:64136573A>G	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.621A>G	10.37:g.64136573A>G						ZNF365_ENST00000395255.3_Silent_p.K207K|ZNF365_ENST00000410046.3_Silent_p.K207K|ZNF365_ENST00000466727.1_Intron	p.K207K	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN			2	901	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		0						Silent	SNP	ENST00000395254.3	37	c.621A>G	CCDS31209.1																																																																																				0.507	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		32	91	0	0	0	1	0	32	91				
COL28A1	340267	broad.mit.edu	37	7	7410437	7410437	+	Silent	SNP	C	C	T	rs539561132		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr7:7410437C>T	ENST00000399429.3	-	33	3125	c.2985G>A	c.(2983-2985)tcG>tcA	p.S995S		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	995					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GTTGAGGTGACGATGAACCAA	0.363													T|||	1	0.000199681	0.0	0.0	5008	,	,		16331	0.001		0.0	False		,,,				2504	0.0					ENST00000399429.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(2983-2985)tcG>tcA		collagen, type XXVIII, alpha 1							114.0	102.0	106.0					7																	7410437		1831	4087	5918	SO:0001819	synonymous_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7410437C>T	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2985G>A	7.37:g.7410437C>T							p.S995S	NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	33	3125	-		Ovarian(82;0.0789)	995					A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	c.2985G>A	CCDS43553.1																																																																																				0.363	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		4	88	0	0	0	1	0	4	88				
TROVE2	6738	broad.mit.edu	37	1	193045706	193045706	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:193045706G>A	ENST00000367446.3	+	4	1087	c.877G>A	c.(877-879)Gta>Ata	p.V293I	TROVE2_ENST00000432079.1_Missense_Mutation_p.V18I|TROVE2_ENST00000367443.1_Missense_Mutation_p.V293I|TROVE2_ENST00000367445.3_Missense_Mutation_p.V293I|TROVE2_ENST00000400968.2_Missense_Mutation_p.V293I|TROVE2_ENST00000367444.3_Missense_Mutation_p.V293I|TROVE2_ENST00000416058.2_Missense_Mutation_p.V18I|TROVE2_ENST00000367441.1_Missense_Mutation_p.V293I|TROVE2_ENST00000460715.2_3'UTR	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	293	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TGCTAATTCAGTACTTGAACC	0.323																																						ENST00000432079.1																			0				biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						c.(52-54)Gta>Ata		TROVE domain family, member 2							114.0	109.0	111.0					1																	193045706		1823	4082	5905	SO:0001583	missense	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr1:193045706G>A	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.877G>A	1.37:g.193045706G>A	ENSP00000356416:p.Val293Ile					TROVE2_ENST00000416058.2_Missense_Mutation_p.V18I|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367443.1_Missense_Mutation_p.V293I|TROVE2_ENST00000367445.3_Missense_Mutation_p.V293I|TROVE2_ENST00000400968.2_Missense_Mutation_p.V293I|TROVE2_ENST00000367441.1_Missense_Mutation_p.V293I|TROVE2_ENST00000367444.3_Missense_Mutation_p.V293I|TROVE2_ENST00000367446.3_Missense_Mutation_p.V293I	p.V18I			P10155	RO60_HUMAN			3	620	+			293			TROVE.		B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Missense_Mutation	SNP	ENST00000367446.3	37	c.52G>A	CCDS1379.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101012	0.56183	.	.	ENSG00000116747	ENST00000400968;ENST00000416058;ENST00000367446;ENST00000367443;ENST00000367445;ENST00000367444;ENST00000367441	T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12	5.38	5.38	0.77491	TROVE (2);	0.058866	0.64402	D	0.000002	T	0.28499	0.0705	L	0.49640	1.575	0.46478	D	0.999067	B;B;B;B	0.22211	0.022;0.022;0.066;0.041	B;B;B;B	0.35971	0.215;0.215;0.156;0.2	T	0.05484	-1.0882	10	0.21540	T	0.41	-19.9204	19.5625	0.95378	0.0:0.0:1.0:0.0	.	293;293;293;293	Q5LJ99;Q5LJ98;Q5LJA0;P10155	.;.;.;RO60_HUMAN	I	293;18;293;293;293;293;293	ENSP00000383752:V293I;ENSP00000411421:V18I;ENSP00000356416:V293I;ENSP00000356413:V293I;ENSP00000356415:V293I;ENSP00000356414:V293I;ENSP00000356411:V293I	ENSP00000356411:V293I	V	+	1	0	TROVE2	191312329	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.841000	0.62824	2.700000	0.92200	0.558000	0.71614	GTA		0.323	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		61	176	0	0	0	1	0	61	176				
SLC7A2	6542	broad.mit.edu	37	8	17396401	17396401	+	Intron	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr8:17396401C>T	ENST00000494857.1	+	3	196				SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000398090.3_Missense_Mutation_p.A23V|SLC7A2_ENST00000470360.1_Missense_Mutation_p.A23V|SLC7A2_ENST00000004531.10_Missense_Mutation_p.A23V	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2						amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGAACACCTGCCCCACCGGTT	0.408																																						ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(67-69)gCc>gTc		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						106.0	97.0	100.0					8																	17396401		1848	4093	5941	SO:0001627	intron_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17396401C>T	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.-22-4426C>T	8.37:g.17396401C>T						SLC7A2_ENST00000398090.3_Missense_Mutation_p.A23V|SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000004531.10_Missense_Mutation_p.A23V	p.A23V			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	3	185	+			0					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	c.68C>T	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537812	0.45176	.	.	ENSG00000003989	ENST00000470360;ENST00000004531;ENST00000398090	D;D;D	0.88586	-2.4;-2.26;-2.4	3.16	0.234	0.15390	.	.	.	.	.	T	0.76615	0.4012	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.59263	-0.7487	8	0.23891	T	0.37	.	3.3216	0.07052	0.0:0.5181:0.2225:0.2594	.	23;23	P52569-3;P52569-2	.;.	V	23	ENSP00000419873:A23V;ENSP00000004531:A23V;ENSP00000381164:A23V	ENSP00000004531:A23V	A	+	2	0	SLC7A2	17440780	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.511000	0.06321	0.024000	0.15214	0.563000	0.77884	GCC		0.408	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		35	101	0	0	0	1	0	35	101				
SRSF8	10929	broad.mit.edu	37	11	94800909	94800909	+	RNA	SNP	C	C	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr11:94800909C>A	ENST00000529911.1	+	0	549					NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN	serine/arginine-rich splicing factor 8						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										ACAGCGCTCTCCCTACAGCAG	0.587																																						ENST00000529911.1																			0													serine/arginine-rich splicing factor 8							44.0	48.0	47.0					11																	94800909		2033	4176	6209			10929				mRNA processing|RNA splicing	nucleus	nucleotide binding|RNA binding	g.chr11:94800909C>A	AF031166	CCDS73370.1	11q21	2014-05-06	2010-06-22	2010-06-22	ENSG00000180771	ENSG00000263465		"""Serine/arginine-rich splicing factors"""	16988	protein-coding gene	gene with protein product	"""SR splicing factor 8"""	603269	"""splicing factor, arginine/serine-rich 2B"""	SFRS2B		9671500, 20516191	Standard	NM_032102		Approved	SRP46	uc001pff.3	Q9BRL6	OTTHUMG00000188534		11.37:g.94800909C>A								NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN			0	549	+								B2R6B8|Q6PF01|Q96TA3	RNA	SNP	ENST00000529911.1	37																																																																																						0.587	SRSF8-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000390962.3	NM_032102		7	54	1	0	2.0095e-06	1	2.07762e-06	7	54				
LRP1B	53353	broad.mit.edu	37	2	141108609	141108609	+	Splice_Site	SNP	T	T	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:141108609T>A	ENST00000389484.3	-	77	12622		c.e77-2			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTCAGAGCCTGGAGattatt	0.264										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.e77-2		low density lipoprotein receptor-related protein 1B							54.0	59.0	57.0					2																	141108609		2201	4296	6497	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141108609T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11651-2A>T	2.37:g.141108609T>A		TSP Lung(27;0.18)						NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	77	12622	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)						Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37		CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.110304	0.77210	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000437977	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9807	0.80108	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP1B	140825079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.586000	0.82596	2.178000	0.69098	0.533000	0.62120	.		0.264	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Intron	21	77	0	0	0	1	0	21	77				
C3orf18	51161	broad.mit.edu	37	3	50603088	50603088	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr3:50603088G>A	ENST00000357203.3	-	3	582	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	C3orf18_ENST00000486175.1_Intron|C3orf18_ENST00000426034.1_Missense_Mutation_p.R15C|C3orf18_ENST00000441239.1_Missense_Mutation_p.R15C|C3orf18_ENST00000449241.1_Missense_Mutation_p.R15C	NM_016210.4	NP_057294.2	Q9UK00	CC018_HUMAN	chromosome 3 open reading frame 18	15						integral component of membrane (GO:0016021)				lung(1)|pancreas(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		GTGGGTGGGCGGCTGCTGAAC	0.627																																						ENST00000357203.3																			0				lung(1)|pancreas(1)|skin(1)	3						c.(43-45)Cgc>Tgc		chromosome 3 open reading frame 18							52.0	45.0	47.0					3																	50603088		2201	4299	6500	SO:0001583	missense	51161					integral to membrane		g.chr3:50603088G>A	AF188706	CCDS2829.1, CCDS54589.1	3p21.3	2006-01-11			ENSG00000088543	ENSG00000088543			24837	protein-coding gene	gene with protein product						12477932	Standard	NM_016210		Approved	G20	uc010hlp.3	Q9UK00	OTTHUMG00000156854	ENST00000357203.3:c.43C>T	3.37:g.50603088G>A	ENSP00000349732:p.Arg15Cys					C3orf18_ENST00000441239.1_Missense_Mutation_p.R15C|C3orf18_ENST00000426034.1_Missense_Mutation_p.R15C|C3orf18_ENST00000486175.1_Intron|C3orf18_ENST00000449241.1_Missense_Mutation_p.R15C	p.R15C	NM_016210.4	NP_057294.2	Q9UK00	CC018_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)	3	582	-			15					C9JNP0	Missense_Mutation	SNP	ENST00000357203.3	37	c.43C>T	CCDS2829.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.153993	0.57259	.	.	ENSG00000088543	ENST00000426034;ENST00000357203;ENST00000449241;ENST00000441239	T;T;T;T	0.45276	0.9;0.9;0.9;1.51	5.24	2.11	0.27256	.	0.467849	0.23189	N	0.050926	T	0.22244	0.0536	N	0.14661	0.345	0.80722	D	1	B;P	0.46064	0.001;0.872	B;B	0.39840	0.001;0.311	T	0.02781	-1.1111	10	0.54805	T	0.06	0.8764	6.3159	0.21190	0.0951:0.0:0.4121:0.4928	.	15;15	C9JNP0;Q9UK00	.;CC018_HUMAN	C	15	ENSP00000387606:R15C;ENSP00000349732:R15C;ENSP00000404913:R15C;ENSP00000414124:R15C	ENSP00000349732:R15C	R	-	1	0	C3orf18	50578092	0.682000	0.27624	0.963000	0.40424	0.933000	0.57130	0.830000	0.27462	0.594000	0.29761	0.462000	0.41574	CGC		0.627	C3orf18-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346260.2	NM_016210		5	31	0	0	0	1	0	5	31				
TMEM132D	121256	broad.mit.edu	37	12	129559089	129559089	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr12:129559089G>C	ENST00000422113.2	-	9	2957	c.2631C>G	c.(2629-2631)caC>caG	p.H877Q	TMEM132D_ENST00000389441.4_Missense_Mutation_p.H415Q	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	877					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGGTCTGCAAGTGGCTGTTGT	0.557																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(2629-2631)caC>caG		transmembrane protein 132D							86.0	85.0	86.0					12																	129559089		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129559089G>C	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2631C>G	12.37:g.129559089G>C	ENSP00000408581:p.His877Gln					TMEM132D_ENST00000389441.4_Missense_Mutation_p.H415Q	p.H877Q	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	2957	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	877					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2631C>G	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	0.106	-1.145615	0.01714	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.08546	3.08;3.89	4.05	-1.23	0.09465	.	4.852420	0.00550	N	0.000248	T	0.03871	0.0109	N	0.02802	-0.49	0.09310	N	1	P;B	0.36249	0.545;0.011	B;B	0.34931	0.192;0.005	T	0.29610	-1.0006	9	.	.	.	-0.8812	7.4247	0.27092	0.2962:0.137:0.5667:0.0	.	877;415	Q14C87;Q14C87-2	T132D_HUMAN;.	Q	415;877	ENSP00000374092:H415Q;ENSP00000408581:H877Q	.	H	-	3	2	TMEM132D	128125042	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.594000	0.02094	-0.130000	0.11599	0.462000	0.41574	CAC		0.557	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		18	69	0	0	0	1	0	18	69				
CYTH4	27128	broad.mit.edu	37	22	37707052	37707052	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr22:37707052C>T	ENST00000248901.6	+	10	1019	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	278	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GACGTGGAAACGGCGCTGGTT	0.642																																						ENST00000248901.6																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						c.(832-834)Cgg>Tgg		cytohesin 4							170.0	138.0	149.0					22																	37707052		2203	4300	6503	SO:0001583	missense	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37707052C>T	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.832C>T	22.37:g.37707052C>T	ENSP00000248901:p.Arg278Trp						p.R278W	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN			10	1019	+			278			PH.		Q5R3F9|Q9UGT6	Missense_Mutation	SNP	ENST00000248901.6	37	c.832C>T	CCDS13946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.052055|4.052055	0.75960|0.75960	.|.	.|.	ENSG00000100055|ENSG00000100055	ENST00000248901|ENST00000446506	T|.	0.21191|.	2.02|.	4.52|4.52	3.46|3.46	0.39613|0.39613	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.055568|.	0.64402|.	D|.	0.000002|.	D|D	0.86414|0.86414	0.5927|0.5927	H|H	0.97315|0.97315	3.98|3.98	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	D|D	0.88812|0.88812	0.3292|0.3292	10|5	0.87932|.	D|.	0|.	.|.	10.8674|10.8674	0.46864|0.46864	0.3419:0.6581:0.0:0.0|0.3419:0.6581:0.0:0.0	.|.	278|.	Q9UIA0|.	CYH4_HUMAN|.	W|M	278|30	ENSP00000248901:R278W|.	ENSP00000248901:R278W|.	R|T	+|+	1|2	2|0	CYTH4|CYTH4	36036998|36036998	0.963000|0.963000	0.33076|0.33076	0.980000|0.980000	0.43619|0.43619	0.997000|0.997000	0.91878|0.91878	1.564000|1.564000	0.36375|0.36375	0.948000|0.948000	0.37687|0.37687	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.642	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			24	94	0	0	0	1	0	24	94				
MAG	4099	broad.mit.edu	37	19	35790572	35790572	+	Silent	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr19:35790572C>T	ENST00000392213.3	+	5	690	c.531C>T	c.(529-531)caC>caT	p.H177H	MAG_ENST00000361922.4_Silent_p.H177H|MAG_ENST00000537831.2_Silent_p.H152H|MAG_ENST00000597035.1_3'UTR	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	177	Ig-like C2-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGCTGGGCCACGAGGGGCTGG	0.711																																						ENST00000361922.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(529-531)caC>caT		myelin associated glycoprotein																																				SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35790572C>T	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.531C>T	19.37:g.35790572C>T						MAG_ENST00000392213.3_Silent_p.H177H|MAG_ENST00000537831.2_Silent_p.H152H|MAG_ENST00000597035.1_3'UTR	p.H177H	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		5	681	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	177			Ig-like C2-type 1.		B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.531C>T	CCDS12455.1																																																																																				0.711	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		5	11	0	0	0	1	0	5	11				
ARRDC3	57561	broad.mit.edu	37	5	90670917	90670917	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr5:90670917G>A	ENST00000265138.3	-	5	958	c.692C>T	c.(691-693)aCa>aTa	p.T231I	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	231					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GAAGGCCTGTGTTTGGTAAAT	0.433																																						ENST00000265138.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18						c.(691-693)aCa>aTa		arrestin domain containing 3							94.0	79.0	84.0					5																	90670917		2203	4300	6503	SO:0001583	missense	57561				signal transduction	cytoplasm	protein binding	g.chr5:90670917G>A	AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"""alpha-arrestin 3"""	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.692C>T	5.37:g.90670917G>A	ENSP00000265138:p.Thr231Ile						p.T231I	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)	5	958	-		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)	231					A8K6T8|Q9P2H1	Missense_Mutation	SNP	ENST00000265138.3	37	c.692C>T	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025300	0.93518	.	.	ENSG00000113369	ENST00000265138	T	0.17213	2.29	5.98	5.98	0.97165	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.086995	0.85682	D	0.000000	T	0.20007	0.0481	L	0.37850	1.14	0.80722	D	1	P	0.36909	0.573	B	0.40602	0.334	T	0.01657	-1.1302	10	0.21540	T	0.41	-31.5824	20.452	0.99131	0.0:0.0:1.0:0.0	.	231	Q96B67	ARRD3_HUMAN	I	231	ENSP00000265138:T231I	ENSP00000265138:T231I	T	-	2	0	ARRDC3	90706673	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	9.827000	0.99397	2.838000	0.97847	0.591000	0.81541	ACA		0.433	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801		39	58	0	0	0	1	0	39	58				
OR2D2	120776	broad.mit.edu	37	11	6913396	6913396	+	Silent	SNP	G	G	A	rs140944764		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr11:6913396G>A	ENST00000299459.2	-	1	434	c.336C>T	c.(334-336)tgC>tgT	p.C112C		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	112					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAAGAAGGGCGCACTGGGTAC	0.488																																						ENST00000299459.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18						c.(334-336)tgC>tgT		olfactory receptor, family 2, subfamily D, member 2				0,4402		0,0,2201	120.0	97.0	104.0		336	4.1	1.0	11	dbSNP_134	104	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR2D2	NM_003700.1		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		112/309	6913396	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913396G>A	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.336C>T	11.37:g.6913396G>A							p.C112C	NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	434	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	112					B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Silent	SNP	ENST00000299459.2	37	c.336C>T	CCDS31416.1																																																																																				0.488	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		18	55	0	0	0	1	0	18	55				
PLEKHH2	130271	broad.mit.edu	37	2	43969914	43969914	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:43969914C>T	ENST00000282406.4	+	22	3366	c.3256C>T	c.(3256-3258)Cgt>Tgt	p.R1086C		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1086	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTACTGCCAGCGTTGTGTAGA	0.353																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3256-3258)Cgt>Tgt		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							106.0	94.0	98.0					2																	43969914		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43969914C>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3256C>T	2.37:g.43969914C>T	ENSP00000282406:p.Arg1086Cys						p.R1086C	NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN			22	3366	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1086			MyTH4.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.3256C>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742235	0.69418	.	.	ENSG00000152527	ENST00000282406	D	0.92199	-2.99	5.39	2.54	0.30619	MyTH4 domain (3);	0.000000	0.85682	D	0.000000	D	0.96278	0.8786	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96013	0.9003	10	0.87932	D	0	-17.4705	14.4395	0.67306	0.3861:0.6139:0.0:0.0	.	1086	Q8IVE3	PKHH2_HUMAN	C	1086	ENSP00000282406:R1086C	ENSP00000282406:R1086C	R	+	1	0	PLEKHH2	43823418	1.000000	0.71417	0.994000	0.49952	0.848000	0.48234	1.960000	0.40422	0.223000	0.20920	-0.261000	0.10672	CGT		0.353	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		20	43	0	0	0	1	0	20	43				
RYR2	6262	broad.mit.edu	37	1	237619981	237619981	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:237619981C>T	ENST00000366574.2	+	16	1875	c.1558C>T	c.(1558-1560)Cga>Tga	p.R520*	RYR2_ENST00000542537.1_Nonsense_Mutation_p.R504*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.R518*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	520					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTTGCTGGGCGAGAAGCAGG	0.433																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(1558-1560)Cga>Tga		ryanodine receptor 2 (cardiac)							158.0	155.0	156.0					1																	237619981		1935	4151	6086	SO:0001587	stop_gained	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237619981C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1558C>T	1.37:g.237619981C>T	ENSP00000355533:p.Arg520*					RYR2_ENST00000360064.6_Nonsense_Mutation_p.R518*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.R504*	p.R520*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		16	1875	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	520					Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.1558C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089990	0.76756	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	4.6	-0.636	0.11508	.	0.410842	0.19461	U	0.113686	.	.	.	.	.	.	0.23645	N	0.997217	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	3.6987	0.08374	0.4771:0.3359:0.0814:0.1056	.	.	.	.	X	520;518;504	.	ENSP00000353174:R518X	R	+	1	2	RYR2	235686604	0.254000	0.23992	0.115000	0.21578	0.121000	0.20230	0.817000	0.27281	0.002000	0.14630	-0.251000	0.11542	CGA		0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		33	66	0	0	0	1	0	33	66				
OTOF	9381	broad.mit.edu	37	2	26696092	26696092	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr2:26696092C>T	ENST00000272371.2	-	29	3767	c.3641G>A	c.(3640-3642)cGc>cAc	p.R1214H	OTOF_ENST00000339598.3_Missense_Mutation_p.R467H|OTOF_ENST00000403946.3_Missense_Mutation_p.R1214H|OTOF_ENST00000338581.6_Missense_Mutation_p.R467H|OTOF_ENST00000402415.3_Missense_Mutation_p.R524H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1214					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTGTGTAGCGACCGAAGGC	0.672																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(3640-3642)cGc>cAc		otoferlin							55.0	56.0	56.0					2																	26696092		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26696092C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3641G>A	2.37:g.26696092C>T	ENSP00000272371:p.Arg1214His					OTOF_ENST00000403946.3_Missense_Mutation_p.R1214H|OTOF_ENST00000402415.3_Missense_Mutation_p.R524H|OTOF_ENST00000339598.3_Missense_Mutation_p.R467H|OTOF_ENST00000338581.6_Missense_Mutation_p.R467H	p.R1214H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			29	3767	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1214					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.3641G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812761	0.90707	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	4.57	4.57	0.56435	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.48822	0.1521	M	0.88377	2.95	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;0.998	D;D;D;D	0.91635	0.999;0.946;0.999;0.928	T	0.59616	-0.7421	10	0.62326	D	0.03	-22.0683	15.9217	0.79580	0.0:1.0:0.0:0.0	.	1214;467;524;467	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	H	467;467;524;1214;1214	ENSP00000345137:R467H;ENSP00000344521:R467H;ENSP00000383906:R524H;ENSP00000272371:R1214H;ENSP00000385255:R1214H	ENSP00000272371:R1214H	R	-	2	0	OTOF	26549596	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	7.754000	0.85163	2.087000	0.62958	0.305000	0.20034	CGC		0.672	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			17	36	0	0	0	1	0	17	36				
KDM5D	8284	broad.mit.edu	37	Y	21871503	21871503	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chrY:21871503C>T	ENST00000317961.4	-	20	3047	c.2776G>A	c.(2776-2778)Gcc>Acc	p.A926T	KDM5D_ENST00000541639.1_Missense_Mutation_p.A957T|KDM5D_ENST00000382806.2_Missense_Mutation_p.A869T	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	926					histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	GCAGAAGGGGCCAGGGCCTGC	0.612																																						ENST00000541639.1																			0				kidney(1)|large_intestine(9)|lung(6)|skin(1)	17						c.(2869-2871)Gcc>Acc		lysine (K)-specific demethylase 5D	Vitamin C(DB00126)																																			SO:0001583	missense	8284				chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrY:21871503C>T	U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11115	protein-coding gene	gene with protein product		426000	"""Jumonji, AT rich interactive domain 1D (RBP2-like)"", ""Smcy homolog, Y-linked (mouse)"", ""jumonji, AT rich interactive domain 1D"""	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.2776G>A	Y.37:g.21871503C>T	ENSP00000322408:p.Ala926Thr					KDM5D_ENST00000317961.4_Missense_Mutation_p.A926T|KDM5D_ENST00000382806.2_Missense_Mutation_p.A869T	p.A957T	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN			21	3156	-			926					A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Missense_Mutation	SNP	ENST00000317961.4	37	c.2869G>A	CCDS14794.1																																																																																				0.612	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1	NM_004653		9	9	0	0	0	1	0	9	9				
SLC41A1	254428	broad.mit.edu	37	1	205767940	205767940	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:205767940A>G	ENST00000367137.3	-	6	1715	c.701T>C	c.(700-702)aTg>aCg	p.M234T	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	234					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AATCATGATCATACCTGGTGA	0.532																																						ENST00000367137.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(700-702)aTg>aCg		solute carrier family 41 (magnesium transporter), member 1							86.0	85.0	85.0					1																	205767940		2203	4300	6503	SO:0001583	missense	254428					integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity	g.chr1:205767940A>G	AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.701T>C	1.37:g.205767940A>G	ENSP00000356105:p.Met234Thr					SLC41A1_ENST00000468057.1_5'UTR	p.M234T	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		6	1715	-	Breast(84;0.0799)		234					Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	ENST00000367137.3	37	c.701T>C	CCDS30988.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.397324	0.42512	.	.	ENSG00000133065	ENST00000367137	T	0.28069	1.63	5.71	5.71	0.89125	MgtE magnesium transporter, integral membrane (1);	0.089188	0.85682	D	0.000000	T	0.13457	0.0326	N	0.01640	-0.785	0.53005	D	0.999966	B	0.09022	0.002	B	0.17098	0.017	T	0.18366	-1.0339	10	0.19590	T	0.45	-10.0138	15.6324	0.76920	1.0:0.0:0.0:0.0	.	234	Q8IVJ1	S41A1_HUMAN	T	234	ENSP00000356105:M234T	ENSP00000356105:M234T	M	-	2	0	SLC41A1	204034563	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.182000	0.69389	0.533000	0.62120	ATG		0.532	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087731.1			48	48	0	0	0	1	0	48	48				
ALS2CL	259173	broad.mit.edu	37	3	46721979	46721979	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr3:46721979C>T	ENST00000318962.4	-	14	1572	c.1489G>A	c.(1489-1491)Gtc>Atc	p.V497I	ALS2CL_ENST00000415953.1_Missense_Mutation_p.V497I	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	497					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GTGACCATGACCCCTGGGCCG	0.602																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(1489-1491)Gtc>Atc		ALS2 C-terminal like							96.0	88.0	90.0					3																	46721979		2203	4300	6503	SO:0001583	missense	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46721979C>T	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1489G>A	3.37:g.46721979C>T	ENSP00000313670:p.Val497Ile					ALS2CL_ENST00000415953.1_Missense_Mutation_p.V497I	p.V497I	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	14	1572	-			497					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.1489G>A	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336985	0.24253	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.60040	0.22;0.22	4.55	1.46	0.22682	.	0.210447	0.30999	N	0.008456	T	0.33498	0.0865	N	0.17872	0.535	0.42739	D	0.99373	B	0.11235	0.004	B	0.09377	0.004	T	0.05338	-1.0891	10	0.15952	T	0.53	.	5.8454	0.18663	0.0:0.5642:0.0:0.4358	.	497	Q60I27	AL2CL_HUMAN	I	497	ENSP00000313670:V497I;ENSP00000413223:V497I	ENSP00000313670:V497I	V	-	1	0	ALS2CL	46696983	0.692000	0.27719	0.453000	0.27007	0.764000	0.43329	0.980000	0.29513	0.515000	0.28320	0.462000	0.41574	GTC		0.602	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		10	47	0	0	0	1	0	10	47				
CDK8	1024	broad.mit.edu	37	13	26975611	26975611	+	Missense_Mutation	SNP	G	G	C			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr13:26975611G>C	ENST00000381527.3	+	12	1622	c.1119G>C	c.(1117-1119)caG>caC	p.Q373H	CDK8_ENST00000536792.1_3'UTR|CDK8_ENST00000480323.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	373	Poly-Gln.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		AGAAGAACCAGCAGCAGCAGC	0.458																																						ENST00000381527.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25						c.(1117-1119)caG>caC		cyclin-dependent kinase 8							51.0	51.0	51.0					13																	26975611		2203	4300	6503	SO:0001583	missense	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26975611G>C	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.1119G>C	13.37:g.26975611G>C	ENSP00000370938:p.Gln373His					CDK8_ENST00000480323.1_3'UTR|CDK8_ENST00000536792.1_3'UTR	p.Q373H	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	12	1622	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	373			Poly-Gln.		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	c.1119G>C	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.235234	0.58886	.	.	ENSG00000132964	ENST00000381527	T	0.70045	-0.45	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.65554	0.2702	M	0.63843	1.955	0.80722	D	1	P;P	0.41848	0.763;0.65	B;B	0.41202	0.35;0.19	T	0.66822	-0.5826	10	0.44086	T	0.13	-8.6083	13.3154	0.60405	0.0722:0.0:0.9278:0.0	.	372;373	P49336-2;P49336	.;CDK8_HUMAN	H	373	ENSP00000370938:Q373H	ENSP00000370938:Q373H	Q	+	3	2	CDK8	25873611	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.185000	0.72013	2.757000	0.94681	0.655000	0.94253	CAG		0.458	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			3	47	0	0	0	1	0	3	47				
EFTUD2	9343	broad.mit.edu	37	17	42953449	42953449	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr17:42953449C>T	ENST00000426333.2	-	10	1019	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	EFTUD2_ENST00000592576.1_Missense_Mutation_p.R231Q|EFTUD2_ENST00000591382.1_Missense_Mutation_p.R241Q|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R206Q	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	241	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTTGATCAGCCGCTCTGTGTT	0.507																																					Ovarian(10;65 485 10258 29980 30707)	ENST00000426333.2																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(721-723)cGg>cAg		elongation factor Tu GTP binding domain containing 2							118.0	106.0	110.0					17																	42953449		2203	4300	6503	SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42953449C>T	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.722G>A	17.37:g.42953449C>T	ENSP00000392094:p.Arg241Gln					EFTUD2_ENST00000591382.1_Missense_Mutation_p.R241Q|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R206Q|EFTUD2_ENST00000592576.1_Missense_Mutation_p.R231Q	p.R241Q	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN			10	1019	-		Prostate(33;0.109)	241					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	c.722G>A	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	C	16.92	3.255400	0.59321	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.70631	-0.5;-0.5	4.96	4.96	0.65561	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.68165	0.2971	L	0.38953	1.18	0.80722	D	1	D;D	0.59357	0.985;0.985	P;P	0.48921	0.595;0.595	T	0.64516	-0.6389	10	0.22109	T	0.4	-7.7551	18.4011	0.90516	0.0:1.0:0.0:0.0	.	231;241	B4DMC0;Q15029	.;U5S1_HUMAN	Q	241;231;206	ENSP00000392094:R241Q;ENSP00000385873:R206Q	ENSP00000262414:R231Q	R	-	2	0	EFTUD2	40308975	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.601000	0.82783	2.589000	0.87451	0.591000	0.81541	CGG		0.507	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		4	136	0	0	0	1	0	4	136				
ZSCAN4	201516	broad.mit.edu	37	19	58187585	58187585	+	Silent	SNP	G	G	A	rs367836558		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr19:58187585G>A	ENST00000318203.5	+	3	769	c.72G>A	c.(70-72)gcG>gcA	p.A24A		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	24					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAATTCAGCGTTTCAACAAA	0.373																																						ENST00000318203.5																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30						c.(70-72)gcG>gcA		zinc finger and SCAN domain containing 4		G		0,4406		0,0,2203	78.0	76.0	77.0		72	-3.9	0.0	19		77	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZSCAN4	NM_152677.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		24/434	58187585	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58187585G>A	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.72G>A	19.37:g.58187585G>A							p.A24A	NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	769	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	24					Q3MIQ2	Silent	SNP	ENST00000318203.5	37	c.72G>A	CCDS12958.1																																																																																				0.373	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		43	63	0	0	0	1	0	43	63				
C10orf2	56652	broad.mit.edu	37	10	102753257	102753257	+	Missense_Mutation	SNP	G	G	A	rs182559752		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr10:102753257G>A	ENST00000311916.2	+	5	2230	c.2045G>A	c.(2044-2046)cGt>cAt	p.R682H	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000370228.1_3'UTR	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	682					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		ACCTCCAAGCGTTCAAAGTGA	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		17483	0.0		0.001	False		,,,				2504	0.0					ENST00000311916.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24						c.(2044-2046)cGt>cAt		chromosome 10 open reading frame 2		G	,HIS/ARG,,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	34.0	38.0	37.0		,683,,2045	0.2	0.0	10		37	4,8596	3.7+/-12.6	0,4,4296	yes	utr-3,missense,utr-3,missense	C10orf2	NM_001163812.1,NM_001163813.1,NM_001163814.1,NM_021830.4	,29,,29	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	,benign,,benign	,228/231,,682/685	102753257	5,13001	2203	4300	6503	SO:0001583	missense	56652				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	g.chr10:102753257G>A	AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.2045G>A	10.37:g.102753257G>A	ENSP00000309595:p.Arg682His					C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000370228.1_3'UTR	p.R682H	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)	5	2230	+		Colorectal(252;0.122)|all_hematologic(284;0.152)	682					B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	ENST00000311916.2	37	c.2045G>A	CCDS7506.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.32	1.318556	0.23994	2.27E-4	4.65E-4	ENSG00000107815	ENST00000311916	D	0.93604	-3.25	4.19	0.238	0.15480	.	0.547984	0.16863	N	0.196444	T	0.78065	0.4225	N	0.08118	0	0.09310	N	1	P	0.34892	0.474	B	0.22386	0.039	T	0.70223	-0.4931	9	.	.	.	-27.8466	4.0212	0.09667	0.0:0.5149:0.1808:0.3044	.	682	Q96RR1	PEO1_HUMAN	H	682	ENSP00000309595:R682H	.	R	+	2	0	C10orf2	102743247	0.692000	0.27719	0.001000	0.08648	0.182000	0.23217	1.027000	0.30115	0.059000	0.16252	-0.802000	0.03209	CGT		0.552	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049886.1	NM_021830		10	30	0	0	0	1	0	10	30				
FMO3	2328	broad.mit.edu	37	1	171086252	171086252	+	Silent	SNP	C	C	T	rs372550552	byFrequency	TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:171086252C>T	ENST00000367755.4	+	9	1380	c.1269C>T	c.(1267-1269)agC>agT	p.S423S	FMO3_ENST00000538429.1_Silent_p.S360S|FMO3_ENST00000542847.1_Silent_p.S403S|FMO3_ENST00000392085.2_Silent_p.S423S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	423					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TTGGCAAAAGCGAGACCATAC	0.438													C|||	2	0.000399361	0.0008	0.0	5008	,	,		19450	0.0		0.0	False		,,,				2504	0.001					ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(1267-1269)agC>agT		flavin containing monooxygenase 3		C	,	0,4406		0,0,2203	93.0	92.0	92.0		1269,1269	-8.4	0.0	1		92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	FMO3	NM_001002294.2,NM_006894.5	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	423/533,423/533	171086252	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171086252C>T	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1269C>T	1.37:g.171086252C>T						FMO3_ENST00000392085.2_Silent_p.S423S|FMO3_ENST00000538429.1_Silent_p.S360S|FMO3_ENST00000542847.1_Silent_p.S403S	p.S423S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			9	1380	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		423					B2R816|Q14854|Q8N5N5	Silent	SNP	ENST00000367755.4	37	c.1269C>T	CCDS1292.1																																																																																				0.438	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		6	67	0	0	0	1	0	6	67				
PARP1	142	broad.mit.edu	37	1	226570790	226570790	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:226570790G>A	ENST00000366794.5	-	8	1249	c.1106C>T	c.(1105-1107)cCt>cTt	p.P369L		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	369					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGAGGGCGGAGGCGTGGCCGC	0.532								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														ENST00000366794.5																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44						c.(1105-1107)cCt>cTt	Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA	poly (ADP-ribose) polymerase 1							75.0	97.0	89.0					1																	226570790		2203	4300	6503	SO:0001583	missense	142				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	g.chr1:226570790G>A	BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.1106C>T	1.37:g.226570790G>A	ENSP00000355759:p.Pro369Leu						p.P369L	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN		GBM - Glioblastoma multiforme(131;0.0531)	8	1249	-	Breast(184;0.133)		369					B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	c.1106C>T	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011598	0.35511	.	.	ENSG00000143799	ENST00000366794	T	0.09445	2.98	5.26	3.36	0.38483	.	0.332353	0.36444	N	0.002588	T	0.05868	0.0153	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34900	-0.9810	10	0.30078	T	0.28	-8.9593	12.0232	0.53354	0.1304:0.0:0.8696:0.0	.	369	P09874	PARP1_HUMAN	L	369	ENSP00000355759:P369L	ENSP00000355759:P369L	P	-	2	0	PARP1	224637413	0.942000	0.31987	0.113000	0.21522	0.009000	0.06853	1.202000	0.32271	0.569000	0.29329	0.555000	0.69702	CCT		0.532	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1	NM_001618		67	193	0	0	0	1	0	67	193				
WDR7	23335	broad.mit.edu	37	18	54547218	54547218	+	Silent	SNP	T	T	C			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr18:54547218T>C	ENST00000254442.3	+	21	3559	c.3348T>C	c.(3346-3348)tcT>tcC	p.S1116S	WDR7_ENST00000357574.3_Silent_p.S1083S|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1116					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTTCTACATCTTACGAGGAAA	0.363																																						ENST00000254442.3																			0				NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78						c.(3346-3348)tcT>tcC		WD repeat domain 7							85.0	79.0	81.0					18																	54547218		2203	4300	6503	SO:0001819	synonymous_variant	23335							g.chr18:54547218T>C	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.3348T>C	18.37:g.54547218T>C						WDR7_ENST00000357574.3_Silent_p.S1083S|WDR7_ENST00000589935.1_Intron	p.S1116S	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	21	3559	+			1116					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.3348T>C	CCDS11962.1																																																																																				0.363	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			19	38	0	0	0	1	0	19	38				
IL24	11009	broad.mit.edu	37	1	207075401	207075401	+	Missense_Mutation	SNP	G	G	A	rs539103349		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:207075401G>A	ENST00000294984.2	+	6	795	c.521G>A	c.(520-522)cGg>cAg	p.R174Q	FAIM3_ENST00000528654.1_5'Flank|IL24_ENST00000367093.3_Missense_Mutation_p.R122Q|IL24_ENST00000491169.1_3'UTR|IL24_ENST00000391929.3_Missense_Mutation_p.R175Q	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	174					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					CTGCTATTCCGGAGAGCATTC	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		17532	0.0		0.001	False		,,,				2504	0.0					ENST00000367093.3																			0				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(364-366)cGg>cAg		interleukin 24							91.0	90.0	91.0					1																	207075401		2203	4300	6503	SO:0001583	missense	11009				apoptosis	extracellular space	cytokine activity	g.chr1:207075401G>A	U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892		"""Interleukins and interleukin receptors"""	11346	protein-coding gene	gene with protein product	"""melanoma differentiation association protein 7"", ""suppression of tumorigenicity 16 (melanoma differentiation)"", ""IL-4-induced secreted protein"""	604136		ST16		8545104, 8799171	Standard	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000294984.2:c.521G>A	1.37:g.207075401G>A	ENSP00000294984:p.Arg174Gln					IL24_ENST00000491169.1_3'UTR|IL24_ENST00000391929.3_Missense_Mutation_p.R175Q|IL24_ENST00000294984.2_Missense_Mutation_p.R174Q	p.R122Q	NM_001185157.1|NM_001185158.1	NP_001172086.1|NP_001172087.1	Q13007	IL24_HUMAN			5	639	+	Breast(84;0.201)		174					Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Missense_Mutation	SNP	ENST00000294984.2	37	c.365G>A	CCDS1471.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.214|0.214	-1.034268|-1.034268	0.02029|0.02029	.|.	.|.	ENSG00000162892|ENSG00000162892	ENST00000480741|ENST00000391929;ENST00000294984;ENST00000367093	.|T;T;T	.|0.17528	.|2.27;2.27;2.27	4.86|4.86	-0.643|-0.643	0.11482|0.11482	.|Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.|1.057120	.|0.07412	.|N	.|0.892629	T|T	0.10380|0.10380	0.0254|0.0254	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.12630	.|0.006;0.0;0.0	.|B;B;B	.|0.09377	.|0.004;0.0;0.0	T|T	0.39860|0.39860	-0.9593|-0.9593	5|9	0.87932|0.24483	D|T	0|0.36	.|.	8.0167|8.0167	0.30385|0.30385	0.5702:0.0:0.4298:0.0|0.5702:0.0:0.4298:0.0	.|.	.|122;175;174	.|Q2YHE5;Q53XZ7;Q13007	.|.;.;IL24_HUMAN	R|Q	56|175;174;122	.|ENSP00000375795:R175Q;ENSP00000294984:R174Q;ENSP00000356060:R122Q	ENSP00000418933:G56R|ENSP00000294984:R174Q	G|R	+|+	1|2	0|0	IL24|IL24	205142024|205142024	0.032000|0.032000	0.19561|0.19561	0.012000|0.012000	0.15200|0.15200	0.306000|0.306000	0.27790|0.27790	0.090000|0.090000	0.15025|0.15025	-0.275000|-0.275000	0.09219|0.09219	-0.345000|-0.345000	0.07892|0.07892	GGA|CGG		0.473	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088680.2	NM_006850		6	76	0	0	0	1	0	6	76				
TOX4	9878	broad.mit.edu	37	14	21945674	21945674	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr14:21945674A>G	ENST00000405508.1	+	3	302	c.26A>G	c.(25-27)aAt>aGt	p.N9S	RAB2B_ENST00000397762.1_5'Flank|TOX4_ENST00000494242.1_3'UTR|RAB2B_ENST00000461909.1_5'Flank|TOX4_ENST00000262709.3_Missense_Mutation_p.N9S|TOX4_ENST00000448790.2_Intron			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	9						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGAAATGACAATTACCTGACG	0.607											OREG0022569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000405508.1																			0				large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(25-27)aAt>aGt		TOX high mobility group box family member 4							80.0	80.0	80.0					14																	21945674		2203	4300	6503	SO:0001583	missense	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21945674A>G	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.26A>G	14.37:g.21945674A>G	ENSP00000385102:p.Asn9Ser		OREG0022569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	752	TOX4_ENST00000448790.2_Intron|TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000262709.3_Missense_Mutation_p.N9S	p.N9S			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	3	302	+	all_cancers(95;0.000465)		9					B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	c.26A>G	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	A	15.27	2.783561	0.49891	.	.	ENSG00000092203	ENST00000416256;ENST00000405508;ENST00000262709	T;T;T	0.42513	0.97;2.71;2.71	5.98	5.98	0.97165	.	0.092656	0.64402	D	0.000001	T	0.27205	0.0667	N	0.17474	0.49	0.80722	D	1	B	0.21688	0.059	B	0.18263	0.021	T	0.11867	-1.0570	10	0.10377	T	0.69	.	15.4522	0.75282	1.0:0.0:0.0:0.0	.	9	O94842	TOX4_HUMAN	S	38;9;9	ENSP00000402195:N38S;ENSP00000385102:N9S;ENSP00000262709:N9S	ENSP00000262709:N9S	N	+	2	0	TOX4	21015514	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.625000	0.61262	2.289000	0.77006	0.482000	0.46254	AAT		0.607	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		29	82	0	0	0	1	0	29	82				
KCNK4	50801	broad.mit.edu	37	11	64064397	64064397	+	Silent	SNP	G	G	A	rs371707971		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr11:64064397G>A	ENST00000539216.1	+	2	597	c.237G>A	c.(235-237)tcG>tcA	p.S79S	KCNK4_ENST00000422670.2_Silent_p.S79S|Y_RNA_ENST00000384297.1_RNA|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000538767.1_Missense_Mutation_p.R13Q|KCNK4_ENST00000394525.2_Silent_p.S79S|KCNK4_ENST00000539651.1_3'UTR			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	79					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						AAACCAACTCGACCAGCAACA	0.612																																						ENST00000538767.1																			0				breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						c.(37-39)cGa>cAa		potassium channel, subfamily K, member 4		G		0,4402		0,0,2201	52.0	61.0	58.0		237	-1.1	1.0	11		58	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	KCNK4	NM_033310.2		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		79/394	64064397	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	50801					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:64064397G>A	AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.237G>A	11.37:g.64064397G>A						KCNK4_ENST00000422670.2_Silent_p.S79S|KCNK4_ENST00000394525.2_Silent_p.S79S|KCNK4_ENST00000539216.1_Silent_p.S79S|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000539651.1_3'UTR	p.R13Q			Q9NYG8	KCNK4_HUMAN			2	290	+			379					B5TJL1|Q96T94	Missense_Mutation	SNP	ENST00000539216.1	37	c.38G>A	CCDS8067.1	.	.	.	.	.	.	.	.	.	.	g	13.35	2.211502	0.39102	0.0	1.16E-4	ENSG00000182450	ENST00000538767	.	.	.	5.3	-1.06	0.10002	.	.	.	.	.	T	0.44393	0.1291	.	.	.	0.58432	D	0.999994	B;B	0.18166	0.026;0.026	B;B	0.06405	0.002;0.002	T	0.31392	-0.9945	7	0.87932	D	0	.	7.9049	0.29757	0.2625:0.5895:0.148:0.0	.	13;13	B4DJC9;F5GYE0	.;.	Q	13	.	ENSP00000446454:R13Q	R	+	2	0	KCNK4	63820973	0.000000	0.05858	0.995000	0.50966	0.997000	0.91878	-0.347000	0.07750	-0.118000	0.11851	0.550000	0.68814	CGA		0.612	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	NM_033311		12	35	0	0	0	1	0	12	35				
SH3RF1	57630	broad.mit.edu	37	4	170043369	170043369	+	Missense_Mutation	SNP	G	G	A			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr4:170043369G>A	ENST00000284637.9	-	7	1569	c.1228C>T	c.(1228-1230)Ctt>Ttt	p.L410F	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	410					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GTGGAGGCAAGGACAGTGGCA	0.542																																						ENST00000284637.9																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1228-1230)Ctt>Ttt		SH3 domain containing ring finger 1							40.0	36.0	37.0					4																	170043369		2203	4299	6502	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170043369G>A	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1228C>T	4.37:g.170043369G>A	ENSP00000284637:p.Leu410Phe					SH3RF1_ENST00000508685.1_5'UTR	p.L410F	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	7	1569	-		Prostate(90;0.00267)|Renal(120;0.0183)	410					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.1228C>T	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	8.785	0.929225	0.18131	.	.	ENSG00000154447	ENST00000284637	T	0.13089	2.62	4.15	0.729	0.18266	.	1.042410	0.07633	N	0.929044	T	0.07593	0.0191	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.15484	0.013	T	0.38650	-0.9651	10	0.52906	T	0.07	-0.6638	7.4718	0.27353	0.0:0.4956:0.1979:0.3065	.	410	Q7Z6J0	SH3R1_HUMAN	F	410	ENSP00000284637:L410F	ENSP00000284637:L410F	L	-	1	0	SH3RF1	170279944	0.160000	0.22878	0.163000	0.22734	0.956000	0.61745	0.182000	0.16900	0.190000	0.20209	0.585000	0.79938	CTT		0.542	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		6	8	0	0	0	1	0	6	8				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	170	0	0	0	1	0	6	170				
TPTE2	93492	broad.mit.edu	37	13	20039450	20039450	+	Missense_Mutation	SNP	T	T	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr13:20039450T>G	ENST00000400230.2	-	9	665	c.621A>C	c.(619-621)gaA>gaC	p.E207D	TPTE2_ENST00000255310.6_Missense_Mutation_p.E130D|TPTE2_ENST00000382977.4_Missense_Mutation_p.E207D|TPTE2_ENST00000390680.2_Missense_Mutation_p.E130D|TPTE2_ENST00000382978.1_Missense_Mutation_p.E167D|TPTE2_ENST00000457266.2_Missense_Mutation_p.E96D|TPTE2_ENST00000400103.2_Missense_Mutation_p.E96D|TPTE2_ENST00000382975.4_Missense_Mutation_p.E167D			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	207					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GCCTTTTGTTTTCTGAAACCT	0.323																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(619-621)gaA>gaC		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							179.0	164.0	169.0					13																	20039450		2203	4300	6503	SO:0001583	missense	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20039450T>G	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.621A>C	13.37:g.20039450T>G	ENSP00000383089:p.Glu207Asp					TPTE2_ENST00000255310.6_Missense_Mutation_p.E130D|TPTE2_ENST00000457266.2_Missense_Mutation_p.E96D|TPTE2_ENST00000382975.4_Missense_Mutation_p.E167D|TPTE2_ENST00000382977.4_Missense_Mutation_p.E207D|TPTE2_ENST00000382978.1_Missense_Mutation_p.E167D|TPTE2_ENST00000390680.2_Missense_Mutation_p.E130D|TPTE2_ENST00000400103.2_Missense_Mutation_p.E96D	p.E207D			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	9	665	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	207					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	c.621A>C	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	t	12.17	1.856694	0.32791	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	2.55	1.28	0.21552	.	0.113220	0.64402	D	0.000019	T	0.39733	0.1089	L	0.55990	1.75	0.36741	D	0.882228	P;P;D	0.56746	0.902;0.848;0.977	P;P;D	0.64595	0.65;0.535;0.927	T	0.37957	-0.9683	9	.	.	.	-11.5531	4.5697	0.12203	0.3063:0.0:0.0:0.6937	.	96;130;207	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	D	167;96;207;130;130;207;167;96;207;76	ENSP00000372438:E167D;ENSP00000382974:E96D;ENSP00000383089:E207D;ENSP00000255310:E130D;ENSP00000375098:E130D;ENSP00000372437:E207D;ENSP00000372435:E167D;ENSP00000442218:E96D	.	E	-	3	2	TPTE2	18937450	1.000000	0.71417	0.865000	0.33974	0.358000	0.29455	0.668000	0.25127	0.352000	0.24053	0.383000	0.25322	GAA		0.323	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		45	108	0	0	0	1	0	45	108				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			0							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		4	43	0	0	0	1	0	4	43				
RYR2	6262	broad.mit.edu	37	1	237947221	237947221	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr1:237947221C>T	ENST00000366574.2	+	90	12526	c.12209C>T	c.(12208-12210)gCg>gTg	p.A4070V	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.A4054V|RYR2_ENST00000360064.6_Missense_Mutation_p.A4076V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4070					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A4068V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGTCTTGTGCGGAGACGGAT	0.517																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.A4068V(1)	large_intestine(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12208-12210)gCg>gTg		ryanodine receptor 2 (cardiac)							37.0	36.0	37.0					1																	237947221		1994	4173	6167	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947221C>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12209C>T	1.37:g.237947221C>T	ENSP00000355533:p.Ala4070Val					RYR2_ENST00000360064.6_Missense_Mutation_p.A4076V|RYR2_ENST00000542537.1_Missense_Mutation_p.A4054V	p.A4070V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12526	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4070					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12209C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.294821	0.40594	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.82167	-0.25;-1.58;-0.25	5.85	5.85	0.93711	EF-hand-like domain (1);	0.081583	0.46758	D	0.000264	D	0.83519	0.5272	L	0.35487	1.065	0.80722	D	1	D;P	0.59357	0.985;0.883	P;B	0.55011	0.766;0.218	T	0.78209	-0.2293	10	0.14252	T	0.57	.	20.1577	0.98120	0.0:1.0:0.0:0.0	.	1044;4070	B4DGV4;Q92736	.;RYR2_HUMAN	V	4070;4076;4054;1044	ENSP00000355533:A4070V;ENSP00000353174:A4076V;ENSP00000443798:A4054V	ENSP00000353174:A4076V	A	+	2	0	RYR2	236013844	1.000000	0.71417	0.602000	0.28890	0.126000	0.20510	7.776000	0.85560	2.767000	0.95098	0.655000	0.94253	GCG		0.517	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		9	20	0	0	0	1	0	9	20				
CYP11B2	1585	broad.mit.edu	37	8	143995766	143995766	+	Missense_Mutation	SNP	C	C	T			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr8:143995766C>T	ENST00000323110.2	-	5	870	c.868G>A	c.(868-870)Gtg>Atg	p.V290M		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	290					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	AGCTCCGCCACGATGCCTGTG	0.567									Familial Hyperaldosteronism type I																													ENST00000323110.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39						c.(868-870)Gtg>Atg		cytochrome P450, family 11, subfamily B, polypeptide 2	Candesartan(DB00796)|Metyrapone(DB01011)						152.0	125.0	134.0					8																	143995766		2203	4300	6503	SO:0001583	missense	1585	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143995766C>T	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.868G>A	8.37:g.143995766C>T	ENSP00000325822:p.Val290Met						p.V290M	NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN			5	870	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		290					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.868G>A	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	6.420	0.445596	0.12164	.	.	ENSG00000179142	ENST00000323110	T	0.69306	-0.39	3.96	0.812	0.18744	.	0.456761	0.17821	N	0.160850	T	0.45994	0.1370	L	0.37466	1.105	0.26184	N	0.97969	B	0.32829	0.386	B	0.25884	0.064	T	0.36939	-0.9727	10	0.52906	T	0.07	.	2.8706	0.05616	0.0:0.405:0.2353:0.3597	.	290	P19099	C11B2_HUMAN	M	290	ENSP00000325822:V290M	ENSP00000325822:V290M	V	-	1	0	CYP11B2	143992768	0.035000	0.19736	0.153000	0.22517	0.001000	0.01503	-0.215000	0.09279	0.335000	0.23614	-0.502000	0.04539	GTG		0.567	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			11	24	0	0	0	1	0	11	24				
DAPK1	1612	broad.mit.edu	37	9	90262289	90262289	+	Missense_Mutation	SNP	A	A	G			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr9:90262289A>G	ENST00000408954.3	+	14	1635	c.1300A>G	c.(1300-1302)Aac>Gac	p.N434D	DAPK1_ENST00000491893.1_Missense_Mutation_p.N434D|DAPK1_ENST00000472284.1_Missense_Mutation_p.N434D|DAPK1_ENST00000469640.2_Missense_Mutation_p.N434D|DAPK1_ENST00000358077.5_Missense_Mutation_p.N434D	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	434					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCTCAGTGAGAACAAATGCCC	0.507									Chronic Lymphocytic Leukemia, Familial Clustering of																													ENST00000469640.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						c.(1300-1302)Aac>Gac		death-associated protein kinase 1							107.0	111.0	110.0					9																	90262289		2039	4189	6228	SO:0001583	missense	1612	Chronic Lymphocytic Leukemia, Familial Clustering of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90262289A>G	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.1300A>G	9.37:g.90262289A>G	ENSP00000386135:p.Asn434Asp					DAPK1_ENST00000472284.1_Missense_Mutation_p.N434D|DAPK1_ENST00000408954.3_Missense_Mutation_p.N434D|DAPK1_ENST00000358077.5_Missense_Mutation_p.N434D|DAPK1_ENST00000491893.1_Missense_Mutation_p.N434D	p.N434D			P53355	DAPK1_HUMAN			14	1675	+			434					B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.1300A>G	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.238119	0.58886	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.65549	-0.16;-0.16;-0.11;-0.16;-0.11	4.74	4.74	0.60224	Ankyrin repeat-containing domain (4);	0.000000	0.53938	D	0.000048	T	0.56731	0.2005	L	0.55990	1.75	0.44871	D	0.997886	P;B;B	0.47545	0.897;0.224;0.067	B;B;B	0.42245	0.381;0.134;0.027	T	0.55431	-0.8142	10	0.16420	T	0.52	.	14.6995	0.69147	1.0:0.0:0.0:0.0	.	434;434;434	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	D	434	ENSP00000350785:N434D;ENSP00000417076:N434D;ENSP00000418885:N434D;ENSP00000386135:N434D;ENSP00000419026:N434D	ENSP00000350785:N434D	N	+	1	0	DAPK1	89452109	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.978000	0.93450	2.125000	0.65367	0.533000	0.62120	AAC		0.507	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		20	50	0	0	0	1	0	20	50				
KMT2E	55904	broad.mit.edu	37	7	104747653	104747653	+	Missense_Mutation	SNP	G	G	A	rs370198555		TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr7:104747653G>A	ENST00000311117.3	+	21	3433	c.2888G>A	c.(2887-2889)cGc>cAc	p.R963H	KMT2E_ENST00000257745.4_Missense_Mutation_p.R963H|KMT2E_ENST00000334914.7_Missense_Mutation_p.R18H|CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334877.4_Missense_Mutation_p.R963H	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	963					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										ATAAAGAGACGCACTTATAGT	0.264																																						ENST00000334877.4																			0											c.(2887-2889)cGc>cAc		lysine (K)-specific methyltransferase 2E		G	HIS/ARG,HIS/ARG	0,4318		0,0,2159	54.0	62.0	59.0		2888,2888	5.8	1.0	7		59	1,8509		0,1,4254	no	missense,missense	MLL5	NM_018682.3,NM_182931.2	29,29	0,1,6413	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging,possibly-damaging	963/1859,963/1859	104747653	1,12827	2159	4255	6414	SO:0001583	missense	55904							g.chr7:104747653G>A	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2888G>A	7.37:g.104747653G>A	ENSP00000312379:p.Arg963His					KMT2E_ENST00000311117.3_Missense_Mutation_p.R963H|KMT2E_ENST00000257745.4_Missense_Mutation_p.R963H|KMT2E_ENST00000334914.7_Missense_Mutation_p.R18H	p.R963H							21	3422	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.2888G>A	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385722	0.82792	0.0	1.18E-4	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000334914	D;D;D;T	0.92149	-2.98;-2.61;-2.98;0.73	5.82	5.82	0.92795	.	0.171071	0.39759	N	0.001267	D	0.90219	0.6942	L	0.29908	0.895	0.37652	D	0.922446	D	0.54047	0.964	P	0.46885	0.53	D	0.91017	0.4854	10	0.44086	T	0.13	.	20.1008	0.97874	0.0:0.0:1.0:0.0	.	963	Q8IZD2	MLL5_HUMAN	H	963;963;963;883;963;18	ENSP00000312379:R963H;ENSP00000335599:R963H;ENSP00000257745:R963H;ENSP00000333986:R18H	ENSP00000257745:R963H	R	+	2	0	MLL5	104534889	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.868000	0.56055	2.748000	0.94277	0.591000	0.81541	CGC		0.264	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			11	60	0	0	0	1	0	11	60				
NUP160	23279	broad.mit.edu	37	11	47861461	47861461	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VN-A88Q-01A-11D-A34U-08	TCGA-VN-A88Q-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	01ba16d8-9bb6-47e4-a32c-887197f7b36d	3d8fd88e-7661-4504-aa5b-a45bb03b8ee1	g.chr11:47861461delG	ENST00000378460.2	-	4	728	c.682delC	c.(682-684)ctgfs	p.L228fs	NUP160_ENST00000526870.1_3'UTR|NUP160_ENST00000530326.1_Frame_Shift_Del_p.L114fs|NUP160_ENST00000532747.1_Intron|NUP160_ENST00000528071.1_Frame_Shift_Del_p.L114fs	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	228					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AAGGCAAACAGGGCCTCCCCA	0.458																																						ENST00000378460.2																			0				NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						c.(682-684)tgfs		nucleoporin 160kDa							160.0	153.0	155.0					11																	47861461		2201	4298	6499	SO:0001589	frameshift_variant	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47861461delG	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.682delC	11.37:g.47861461delG	ENSP00000367721:p.Leu228fs					NUP160_ENST00000532747.1_Intron|NUP160_ENST00000528071.1_Frame_Shift_Del_p.L114fs|NUP160_ENST00000530326.1_Frame_Shift_Del_p.L114fs|NUP160_ENST00000526870.1_3'UTR	p.L228fs	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN			4	728	-			228					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Frame_Shift_Del	DEL	ENST00000378460.2	37	c.682delC	CCDS31484.1																																																																																				0.458	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		32	68						32	68	---	---	---	---
