#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
RPLP0P6	220717	broad.mit.edu	37	2	38709067	38709067	+	lincRNA	SNP	A	A	G	rs113173138		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:38709067A>G	ENST00000417039.1	-	0	696																											ATGATTATCCAAAATGTTTCA	0.537																																						ENST00000417039.1																			0																																																			0							g.chr2:38709067A>G																													2.37:g.38709067A>G														0	696	-									RNA	SNP	ENST00000417039.1	37																																																																																						0.537	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			22	143	0	0	0	1	0	22	143				
CC2D2A	57545	broad.mit.edu	37	4	15572024	15572024	+	Missense_Mutation	SNP	G	G	T	rs371998498		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:15572024G>T	ENST00000503292.1	+	29	3679	c.3499G>T	c.(3499-3501)Gac>Tac	p.D1167Y	CC2D2A_ENST00000389652.5_Missense_Mutation_p.D1118Y|CC2D2A_ENST00000424120.1_Missense_Mutation_p.D1167Y|CC2D2A_ENST00000413206.1_Missense_Mutation_p.D1167Y	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1167	C2.				cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						CCTTTAGGATGACCGTGAAAG	0.408																																						ENST00000424120.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						c.(3499-3501)Gac>Tac		coiled-coil and C2 domain containing 2A							69.0	63.0	64.0					4																	15572024		1865	4113	5978	SO:0001583	missense	57545				cell projection organization	cilium|microtubule basal body		g.chr4:15572024G>T	AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.3499G>T	4.37:g.15572024G>T	ENSP00000421809:p.Asp1167Tyr					CC2D2A_ENST00000413206.1_Missense_Mutation_p.D1167Y|CC2D2A_ENST00000503292.1_Missense_Mutation_p.D1167Y|CC2D2A_ENST00000389652.5_Missense_Mutation_p.D1118Y	p.D1167Y			Q9P2K1	C2D2A_HUMAN			28	3753	+			1167			C2.		A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	ENST00000503292.1	37	c.3499G>T	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820380	0.71028	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	D;D;D;D	0.85861	-2.0;-2.0;-2.0;-2.04	5.65	4.81	0.61882	C2 calcium-dependent membrane targeting (1);	0.108853	0.64402	D	0.000008	D	0.90235	0.6947	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.991	D	0.89006	0.3425	10	0.36615	T	0.2	.	11.7426	0.51801	0.1419:0.0:0.8581:0.0	.	1167;1118	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	Y	1167;1167;1118;1118;1167;1118	ENSP00000403465:D1167Y;ENSP00000398391:D1167Y;ENSP00000421809:D1167Y;ENSP00000374303:D1118Y	ENSP00000374303:D1118Y	D	+	1	0	CC2D2A	15181122	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.179000	0.71974	1.390000	0.46547	0.561000	0.74099	GAC		0.408	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522		10	42	1	0	1.58986e-06	1	1.62573e-06	10	42				
ZNF615	284370	broad.mit.edu	37	19	52497760	52497760	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:52497760T>C	ENST00000602063.1	-	6	918	c.569A>G	c.(568-570)cAg>cGg	p.Q190R	ZNF615_ENST00000598071.1_Missense_Mutation_p.Q201R|ZNF615_ENST00000391795.3_Missense_Mutation_p.Q195R|ZNF615_ENST00000376716.5_Missense_Mutation_p.Q190R|ZNF615_ENST00000594083.1_Missense_Mutation_p.Q201R			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	190					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTTAATGAACTGGGACTTATT	0.363																																						ENST00000602063.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42						c.(568-570)cAg>cGg		zinc finger protein 615							188.0	189.0	189.0					19																	52497760		2203	4300	6503	SO:0001583	missense	284370				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52497760T>C	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.569A>G	19.37:g.52497760T>C	ENSP00000473089:p.Gln190Arg					ZNF615_ENST00000598071.1_Missense_Mutation_p.Q201R|ZNF615_ENST00000391795.3_Missense_Mutation_p.Q195R|ZNF615_ENST00000376716.5_Missense_Mutation_p.Q190R|ZNF615_ENST00000594083.1_Missense_Mutation_p.Q201R	p.Q190R			Q8N8J6	ZN615_HUMAN		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	918	-		all_neural(266;0.117)	190					B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	37	c.569A>G	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	T	9.187	1.025164	0.19433	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.07567	3.2;3.18	3.2	-0.408	0.12381	.	.	.	.	.	T	0.04497	0.0123	N	0.20685	0.6	0.09310	N	1	B;B;B;B	0.29037	0.089;0.231;0.231;0.089	B;B;B;B	0.27796	0.038;0.083;0.083;0.038	T	0.45760	-0.9239	9	0.21540	T	0.41	.	5.0526	0.14516	0.3115:0.0:0.1615:0.527	.	195;197;201;190	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	R	190;200;195;200	ENSP00000365906:Q190R;ENSP00000375672:Q195R	ENSP00000347019:Q200R	Q	-	2	0	ZNF615	57189572	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	0.644000	0.24766	-0.316000	0.08690	0.533000	0.62120	CAG		0.363	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480		119	854	0	0	0	1	0	119	854				
ZNF514	84874	broad.mit.edu	37	2	95815575	95815575	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:95815575G>T	ENST00000295208.2	-	5	1117	c.655C>A	c.(655-657)Ctt>Att	p.L219I	ZNF514_ENST00000411425.1_Missense_Mutation_p.L219I|MRPS5_ENST00000475040.1_5'Flank	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(6)|urinary_tract(1)	11						TGGCGCCTAAGTTCTGACTGG	0.443																																						ENST00000295208.2																			0				large_intestine(4)|lung(6)|urinary_tract(1)	11						c.(655-657)Ctt>Att		zinc finger protein 514							125.0	132.0	129.0					2																	95815575		2203	4300	6503	SO:0001583	missense	84874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95815575G>T	AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.655C>A	2.37:g.95815575G>T	ENSP00000295208:p.Leu219Ile					ZNF514_ENST00000411425.1_Missense_Mutation_p.L219I	p.L219I	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN			5	1117	-			219					Q5JPJ3	Missense_Mutation	SNP	ENST00000295208.2	37	c.655C>A	CCDS2011.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829490	0.50845	.	.	ENSG00000144026	ENST00000295208;ENST00000411425;ENST00000542127	T;T	0.53857	0.6;0.6	3.18	3.18	0.36537	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.74176	0.3682	M	0.89478	3.035	0.23577	N	0.997371	B;D	0.53462	0.227;0.96	P;D	0.64506	0.493;0.926	T	0.64360	-0.6426	9	0.87932	D	0	.	12.6058	0.56523	0.0:0.0:1.0:0.0	.	219;38	Q96K75;Q658L7	ZN514_HUMAN;.	I	219;219;4	ENSP00000295208:L219I;ENSP00000405509:L219I	ENSP00000295208:L219I	L	-	1	0	ZNF514	95179302	0.924000	0.31332	0.977000	0.42913	0.771000	0.43674	2.436000	0.44819	2.065000	0.61736	0.655000	0.94253	CTT		0.443	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	NM_032788		26	783	1	0	4.06085e-26	1	4.4182e-26	26	783				
CHD8	57680	broad.mit.edu	37	14	21861651	21861651	+	Silent	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:21861651C>T	ENST00000557364.1	-	32	6566	c.6303G>A	c.(6301-6303)gaG>gaA	p.E2101E	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Silent_p.E1822E|CHD8_ENST00000399982.2_Silent_p.E2101E			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2101					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCTCTTCCTTCTCATCCTCAC	0.498																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(6301-6303)gaG>gaA		chromodomain helicase DNA binding protein 8							17.0	18.0	18.0					14																	21861651		2075	4204	6279	SO:0001819	synonymous_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21861651C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6303G>A	14.37:g.21861651C>T						CHD8_ENST00000430710.3_Silent_p.E1822E|CHD8_ENST00000557364.1_Silent_p.E2101E	p.E2101E	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	31	6367	-	all_cancers(95;0.00121)		2101					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	SNP	ENST00000557364.1	37	c.6303G>A	CCDS53885.1																																																																																				0.498	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		7	37	0	0	0	1	0	7	37				
TRAV6	6956	broad.mit.edu	37	14	22236771	22236771	+	RNA	SNP	C	C	T	rs11623408	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:22236771C>T	ENST00000390428.3	+	0	43									T cell receptor alpha variable 6																		GTCTACATTTCAGGCCACATT	0.468													C|||	777	0.155152	0.1172	0.1455	5008	,	,		21523	0.1171		0.2406	False		,,,				2504	0.1646					ENST00000390428.3																			0															C		572,3278		33,506,1386	248.0	246.0	247.0			-2.3	0.0	14	dbSNP_120	247	1972,6282		227,1518,2382	no	intergenic				260,2024,3768	TT,TC,CC		23.8914,14.8571,21.0178			22236771	2544,9560	1925	4127	6052			0							g.chr14:22236771C>T	Z49060		14q11.2	2012-02-07			ENSG00000211780	ENSG00000211780		"""T cell receptors / TRA locus"""	12144	other	T cell receptor gene				TCRAV5S1		8188290, 8530018	Standard	NG_001332		Approved				OTTHUMG00000168984		14.37:g.22236771C>T														0	43	+									RNA	SNP	ENST00000390428.3	37																																																																																						0.468	TRAV6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401882.1	NG_001332		27	906	0	0	0	1	0	27	906				
C1orf162	128346	broad.mit.edu	37	1	112020662	112020662	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:112020662G>A	ENST00000343534.5	+	6	635	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	C1orf162_ENST00000369718.3_Missense_Mutation_p.E104K|C1orf162_ENST00000464591.1_3'UTR	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	129						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		CAAACTCTCAGAAGAAAAGAG	0.433																																						ENST00000343534.5																			0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5						c.(385-387)Gaa>Aaa		chromosome 1 open reading frame 162							104.0	99.0	100.0					1																	112020662		2203	4300	6503	SO:0001583	missense	128346					integral to membrane		g.chr1:112020662G>A	BC017973	CCDS837.1, CCDS72837.1	1p13.2	2008-02-05			ENSG00000143110	ENSG00000143110			28344	protein-coding gene	gene with protein product						12477932	Standard	XM_005270475		Approved	MGC24133	uc001ebe.3	Q8NEQ5	OTTHUMG00000011750	ENST00000343534.5:c.385G>A	1.37:g.112020662G>A	ENSP00000344218:p.Glu129Lys					C1orf162_ENST00000369718.3_Missense_Mutation_p.E104K|C1orf162_ENST00000464591.1_3'UTR	p.E129K	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)	6	635	+		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	129					Q5QNZ1	Missense_Mutation	SNP	ENST00000343534.5	37	c.385G>A	CCDS837.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790336	0.70337	.	.	ENSG00000143110	ENST00000343534;ENST00000369718	D;D	0.96168	-3.93;-3.93	5.33	2.41	0.29592	.	0.433811	0.19760	N	0.106688	T	0.80849	0.4702	N	0.20986	0.625	0.09310	N	1	P	0.36144	0.539	B	0.33799	0.17	T	0.74064	-0.3785	10	0.39692	T	0.17	-7.762	5.2195	0.15362	0.181:0.169:0.65:0.0	.	129	Q8NEQ5	CA162_HUMAN	K	129;104	ENSP00000344218:E129K;ENSP00000358732:E104K	ENSP00000344218:E129K	E	+	1	0	C1orf162	111822185	0.001000	0.12720	0.017000	0.16124	0.172000	0.22775	0.239000	0.18023	0.365000	0.24400	0.655000	0.94253	GAA		0.433	C1orf162-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032471.1	NM_174896		67	339	0	0	0	1	0	67	339				
DNAH9	1770	broad.mit.edu	37	17	11650939	11650939	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:11650939G>A	ENST00000262442.4	+	32	6534	c.6466G>A	c.(6466-6468)Ggc>Agc	p.G2156S	DNAH9_ENST00000454412.2_Missense_Mutation_p.G2156S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2156	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGCTGGTACCGGCAAGTCACA	0.572																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(6466-6468)Ggc>Agc		dynein, axonemal, heavy chain 9							76.0	71.0	73.0					17																	11650939		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11650939G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6466G>A	17.37:g.11650939G>A	ENSP00000262442:p.Gly2156Ser					DNAH9_ENST00000454412.2_Missense_Mutation_p.G2156S	p.G2156S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	32	6534	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2156			AAA 2 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6466G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208342	0.79240	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	D;D	0.92048	-2.96;-2.96	4.5	4.5	0.54988	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.97583	0.9208	H	0.97587	4.035	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.99301	1.0901	10	0.87932	D	0	.	17.416	0.87500	0.0:0.0:1.0:0.0	.	2156	Q9NYC9	DYH9_HUMAN	S	2156;2156;738	ENSP00000262442:G2156S;ENSP00000414874:G2156S	ENSP00000262442:G2156S	G	+	1	0	DNAH9	11591664	1.000000	0.71417	0.928000	0.36995	0.327000	0.28475	9.556000	0.98127	2.346000	0.79739	0.557000	0.71058	GGC		0.572	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		43	334	0	0	0	1	0	43	334				
SPATA2L	124044	broad.mit.edu	37	16	89764126	89764126	+	Silent	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr16:89764126C>T	ENST00000289805.5	-	3	959	c.891G>A	c.(889-891)gaG>gaA	p.E297E	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	297										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		CCAGCCCCTCCTCCAAGGCCC	0.682																																						ENST00000289805.5																			0				breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6						c.(889-891)gaG>gaA		spermatogenesis associated 2-like							25.0	27.0	27.0					16																	89764126		2195	4294	6489	SO:0001819	synonymous_variant	124044							g.chr16:89764126C>T	AF070574	CCDS10985.1	16q24.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000158792	ENSG00000158792			28393	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 76"""	C16orf76		8619474	Standard	NM_152339		Approved	MGC26885, tamo	uc002foj.3	Q8IUW3	OTTHUMG00000138047	ENST00000289805.5:c.891G>A	16.37:g.89764126C>T						SPATA2L_ENST00000335360.7_Intron	p.E297E	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	3	959	-		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)	297					D3DX85|Q8NHV3	Silent	SNP	ENST00000289805.5	37	c.891G>A	CCDS10985.1																																																																																				0.682	SPATA2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269923.1	NM_152339		15	104	0	0	0	1	0	15	104				
LSM14A	26065	broad.mit.edu	37	19	34685499	34685499	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:34685499C>T	ENST00000433627.5	+	2	313	c.238C>T	c.(238-240)Cca>Tca	p.P80S	LSM14A_ENST00000540746.2_Missense_Mutation_p.P80S|LSM14A_ENST00000544216.3_Missense_Mutation_p.P80S	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	80					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TGTTTGTGAGCCACCAAAACC	0.438																																						ENST00000544216.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(238-240)Cca>Tca		LSM14A, SCD6 homolog A (S. cerevisiae)							219.0	186.0	197.0					19																	34685499		2203	4300	6503	SO:0001583	missense	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34685499C>T	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.238C>T	19.37:g.34685499C>T	ENSP00000413964:p.Pro80Ser					LSM14A_ENST00000540746.2_Missense_Mutation_p.P80S|LSM14A_ENST00000433627.5_Missense_Mutation_p.P80S	p.P80S	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN			2	315	+	Esophageal squamous(110;0.162)		80					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	c.238C>T	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619262	0.87460	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.33216	1.42;1.42;1.45	5.42	5.42	0.78866	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.51398	0.1672	L	0.54323	1.7	0.80722	D	1	P;D;D	0.69078	0.624;0.997;0.995	P;D;D	0.68192	0.525;0.932;0.956	T	0.32481	-0.9905	10	0.33940	T	0.23	-0.7743	19.5786	0.95455	0.0:1.0:0.0:0.0	.	80;80;80	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	S	80	ENSP00000446271:P80S;ENSP00000413964:P80S;ENSP00000446451:P80S	ENSP00000314768:P80S	P	+	1	0	LSM14A	39377339	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.042000	0.70996	2.711000	0.92665	0.655000	0.94253	CCA		0.438	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		90	611	0	0	0	1	0	90	611				
MT-ND2	4536	broad.mit.edu	37	M	1719	1719	+	5'Flank	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:1719G>A	ENST00000361453.3	+	0	0				MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						CAGACAACCTTAGCCAAACCA	0.418																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:1719G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.1719G>A	Exception_encountered							NR_039705.1						0	49	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.418	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		18	62	0	0	0	1	0	18	62				
CLCN2	1181	broad.mit.edu	37	3	184079221	184079221	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:184079221T>G	ENST00000265593.4	-	1	218	c.47A>C	c.(46-48)cAg>cCg	p.Q16P	POLR2H_ENST00000452961.1_5'Flank|CLCN2_ENST00000457512.1_Missense_Mutation_p.Q16P|POLR2H_ENST00000443489.1_5'Flank|POLR2H_ENST00000296223.3_5'Flank|POLR2H_ENST00000456318.1_5'Flank|CLCN2_ENST00000434054.2_Missense_Mutation_p.Q16P|CLCN2_ENST00000344937.7_Missense_Mutation_p.Q16P|POLR2H_ENST00000430783.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|POLR2H_ENST00000438240.1_5'Flank|CLCN2_ENST00000423355.2_5'UTR|POLR2H_ENST00000429568.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	16					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CTGCTCGTACTGCAGCGCCCG	0.706																																						ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(46-48)cAg>cCg		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)						57.0	60.0	59.0					3																	184079221		2203	4300	6503	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184079221T>G	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.47A>C	3.37:g.184079221T>G	ENSP00000265593:p.Gln16Pro					CLCN2_ENST00000434054.2_Missense_Mutation_p.Q16P|CLCN2_ENST00000344937.7_Missense_Mutation_p.Q16P|CLCN2_ENST00000457512.1_Missense_Mutation_p.Q16P|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_5'UTR	p.Q16P	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	218	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		16					B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.47A>C	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	N	10.09	1.254718	0.22965	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	3.81	3.81	0.43845	.	0.245968	0.25741	N	0.028603	T	0.78027	0.4219	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B	0.25105	0.046;0.072;0.072;0.118;0.072	B;B;B;B;B	0.28232	0.026;0.054;0.087;0.079;0.054	T	0.74748	-0.3560	10	0.44086	T	0.13	-14.9975	9.2202	0.37373	0.0:0.0:0.0:1.0	.	16;16;16;16;16	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	P	16	ENSP00000265593:Q16P;ENSP00000345056:Q16P;ENSP00000400425:Q16P;ENSP00000391928:Q16P	ENSP00000265593:Q16P	Q	-	2	0	CLCN2	185561915	1.000000	0.71417	1.000000	0.80357	0.109000	0.19521	2.573000	0.46007	1.742000	0.51746	0.370000	0.22315	CAG		0.706	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			44	298	0	0	0	1	0	44	298				
MT-ATP6	4508	broad.mit.edu	37	M	8697	8697	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:8697G>A	ENST00000361899.2	+	1	171	c.171G>A	c.(169-171)atG>atA	p.M57I	MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-ND4_ENST00000361381.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TR_ENST00000387439.1_RNA			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	57					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						TCAAAACAAATGATAGCCATA	0.403																																						ENST00000361899.2																			0				breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						c.(169-171)atG>atA		mitochondrially encoded ATP synthase 6																																				SO:0001583	missense	4508							g.chrM:8697G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.171G>A	M.37:g.8697G>A	ENSP00000354632:p.Met57Ile						p.M57I							1	171	+								Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Missense_Mutation	SNP	ENST00000361899.2	37	c.171G>A																																																																																					0.403	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024031		24	83	0	0	0	1	0	24	83				
MT-CO3	4514	broad.mit.edu	37	M	9540	9540	+	Silent	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:9540T>C	ENST00000362079.2	+	1	334	c.334T>C	c.(334-336)Tta>Cta	p.L112L	MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-ND4_ENST00000361381.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TR_ENST00000387439.1_RNA			P00414	COX3_HUMAN	mitochondrially encoded cytochrome c oxidase III	112					aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						CTACCCCCCAACTAGGAGGGC	0.493																																						ENST00000362079.2																			0				breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						c.(334-336)Tta>Cta		mitochondrially encoded cytochrome c oxidase III																																				SO:0001819	synonymous_variant	4514							g.chrM:9540T>C			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938		"""Mitochondrial respiratory chain complex / Complex IV"""	7422	protein-coding gene	gene with protein product		516050	"""cytochrome c oxidase III"""	MTCO3			Standard			Approved	COX3, COIII, CO3		P00414		ENST00000362079.2:c.334T>C	M.37:g.9540T>C							p.112_112insL							1	334	+								Q14Y83	Missense_Mutation	SNP	ENST00000362079.2	37	c.334T>C																																																																																					0.493	MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024032		6	80	0	0	0	1	0	6	80				
NOL6	65083	broad.mit.edu	37	9	33468069	33468069	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:33468069C>T	ENST00000379471.2	-	11	1470	c.1383G>A	c.(1381-1383)atG>atA	p.M461I	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.M409I			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	461					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GTTTGGGAGTCATCAACAGCA	0.567																																						ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(1381-1383)atG>atA		nucleolar protein 6 (RNA-associated)							125.0	123.0	124.0					9																	33468069		2203	4300	6503	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33468069C>T	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1383G>A	9.37:g.33468069C>T	ENSP00000368784:p.Met461Ile					NOL6_ENST00000455041.2_Missense_Mutation_p.M409I|NOL6_ENST00000464829.1_Intron	p.M461I			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	11	1470	-			461					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37	c.1383G>A		.	.	.	.	.	.	.	.	.	.	C	24.6	4.544742	0.86022	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.46	5.46	0.80206	.	0.069975	0.85682	D	0.000000	T	0.49304	0.1549	L	0.49350	1.555	0.80722	D	1	D;D;D;P;D	0.63046	0.992;0.99;0.99;0.532;0.992	D;P;P;B;D	0.63033	0.91;0.853;0.853;0.259;0.91	T	0.27606	-1.0069	10	0.10377	T	0.69	.	17.0911	0.86622	0.0:1.0:0.0:0.0	.	409;458;461;461;461	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	I	461;461;461;17;461;409	ENSP00000313978:M461I;ENSP00000297990:M461I;ENSP00000368784:M461I;ENSP00000395915:M409I	ENSP00000297990:M461I	M	-	3	0	NOL6	33458069	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.937000	0.75898	2.575000	0.86900	0.561000	0.74099	ATG		0.567	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		29	590	0	0	0	1	0	29	590				
SLC2A13	114134	broad.mit.edu	37	12	40499348	40499348	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:40499348G>A	ENST00000280871.4	-	1	313	c.263C>T	c.(262-264)tCc>tTc	p.S88F	SLC2A13_ENST00000380858.1_Missense_Mutation_p.S88F	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	88					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GCCCAGCGCGGAGAAGACGGC	0.721										HNSCC(50;0.14)																												ENST00000280871.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29						c.(262-264)tCc>tTc		solute carrier family 2 (facilitated glucose transporter), member 13							10.0	11.0	11.0					12																	40499348		2159	4233	6392	SO:0001583	missense	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40499348G>A	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.263C>T	12.37:g.40499348G>A	ENSP00000280871:p.Ser88Phe	HNSCC(50;0.14)				SLC2A13_ENST00000380858.1_Missense_Mutation_p.S88F	p.S88F	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN			1	313	-		Lung NSC(34;0.105)|all_lung(34;0.123)	88					Q17S07	Missense_Mutation	SNP	ENST00000280871.4	37	c.263C>T	CCDS8736.2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491660	0.84962	.	.	ENSG00000151229	ENST00000280871;ENST00000380858	T;T	0.58940	0.3;0.3	3.88	3.88	0.44766	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.235349	0.36932	N	0.002323	T	0.74152	0.3679	M	0.79805	2.47	0.54753	D	0.999983	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.99	T	0.77661	-0.2504	10	0.87932	D	0	-9.45	10.6446	0.45613	0.095:0.0:0.905:0.0	.	88;88	Q96QE2;E9PE47	MYCT_HUMAN;.	F	88	ENSP00000280871:S88F;ENSP00000370239:S88F	ENSP00000280871:S88F	S	-	2	0	SLC2A13	38785615	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.537000	0.73847	1.710000	0.51325	0.462000	0.41574	TCC		0.721	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2			6	34	0	0	0	1	0	6	34				
CD58	965	broad.mit.edu	37	1	117087113	117087113	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:117087113T>C	ENST00000369489.5	-	2	250	c.184A>G	c.(184-186)Aaa>Gaa	p.K62E	CD58_ENST00000369487.3_Missense_Mutation_p.K62E|CD58_ENST00000457047.2_Missense_Mutation_p.K62E	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	62	Ig-like.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		TCTGCAACTTTATCCTTTTGT	0.348																																						ENST00000457047.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9						c.(184-186)Aaa>Gaa		CD58 molecule							78.0	77.0	77.0					1																	117087113		2203	4300	6503	SO:0001583	missense	965				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding	g.chr1:117087113T>C	BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"""CD molecules"""	1688	protein-coding gene	gene with protein product		153420	"""CD58 antigen, (lymphocyte function-associated antigen 3)"""	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.184A>G	1.37:g.117087113T>C	ENSP00000358501:p.Lys62Glu					CD58_ENST00000369489.5_Missense_Mutation_p.K62E|CD58_ENST00000369487.3_Missense_Mutation_p.K62E	p.K62E	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)	2	237	-	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)	62					A8K7G5|Q5U053|Q6IB65|Q96KI9	Missense_Mutation	SNP	ENST00000369489.5	37	c.184A>G	CCDS888.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.436430	0.62955	.	.	ENSG00000116815	ENST00000369489;ENST00000457047;ENST00000526981;ENST00000369487	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	3.86	3.86	0.44501	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.138000	0.06498	N	0.735875	T	0.28433	0.0703	L	0.58810	1.83	0.25688	N	0.985724	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.994;0.985;0.994	T	0.12528	-1.0544	10	0.56958	D	0.05	-31.9159	9.2366	0.37470	0.0:0.0:0.0:1.0	.	62;62;62	P19256-3;B1AMW1;P19256	.;.;LFA3_HUMAN	E	62;62;34;62	ENSP00000358501:K62E;ENSP00000409080:K62E;ENSP00000433648:K34E;ENSP00000358499:K62E	ENSP00000358499:K62E	K	-	1	0	CD58	116888636	0.934000	0.31675	0.828000	0.32881	0.100000	0.18952	1.517000	0.35867	1.740000	0.51718	0.459000	0.35465	AAA		0.348	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1	NM_001779		38	168	0	0	0	1	0	38	168				
RFX3	5991	broad.mit.edu	37	9	3271027	3271027	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:3271027T>C	ENST00000382004.3	-	11	1489	c.1178A>G	c.(1177-1179)gAt>gGt	p.D393G	RFX3_ENST00000358730.2_Missense_Mutation_p.D393G|RFX3_ENST00000302303.1_Missense_Mutation_p.D393G	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	393					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GGTAGTGCCATCAGTTGGAGT	0.368																																						ENST00000382004.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1177-1179)gAt>gGt		regulatory factor X, 3 (influences HLA class II expression)							187.0	168.0	175.0					9																	3271027		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3271027T>C	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1178A>G	9.37:g.3271027T>C	ENSP00000371434:p.Asp393Gly					RFX3_ENST00000358730.2_Missense_Mutation_p.D393G|RFX3_ENST00000302303.1_Missense_Mutation_p.D393G	p.D393G	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	11	1489	-			393					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.1178A>G	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	t	15.35	2.806532	0.50421	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303	T;T;T	0.08102	3.13;3.13;3.13	5.46	5.46	0.80206	.	0.096942	0.64402	D	0.000001	T	0.18173	0.0436	L	0.28400	0.85	0.80722	D	1	D;B;P	0.76494	0.999;0.008;0.57	D;B;B	0.68192	0.956;0.017;0.147	T	0.01397	-1.1365	10	0.46703	T	0.11	-13.5119	15.8559	0.78977	0.0:0.0:0.0:1.0	.	393;393;393	P48380-3;P48380-2;P48380	.;.;RFX3_HUMAN	G	393	ENSP00000371434:D393G;ENSP00000351574:D393G;ENSP00000303847:D393G	ENSP00000303847:D393G	D	-	2	0	RFX3	3261027	1.000000	0.71417	0.975000	0.42487	0.998000	0.95712	7.624000	0.83124	2.211000	0.71520	0.524000	0.50904	GAT		0.368	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		48	362	0	0	0	1	0	48	362				
MT-ATP6	4508	broad.mit.edu	37	M	9080	9080	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:9080A>G	ENST00000361899.2	+	1	554	c.554A>G	c.(553-555)aAc>aGc	p.N185S	MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-ND4_ENST00000361381.2_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TR_ENST00000387439.1_RNA			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	185					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						ATCAACCATTAACCTTCCCTC	0.453																																						ENST00000361899.2																			0				breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						c.(553-555)aAc>aGc		mitochondrially encoded ATP synthase 6																																				SO:0001583	missense	4508							g.chrM:9080A>G			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.554A>G	M.37:g.9080A>G	ENSP00000354632:p.Asn185Ser						p.N185S							1	554	+								Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Missense_Mutation	SNP	ENST00000361899.2	37	c.554A>G																																																																																					0.453	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024031		4	60	0	0	0	1	0	4	60				
MT-CYB	4519	broad.mit.edu	37	M	15043	15043	+	Silent	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:15043G>A	ENST00000361789.2	+	1	297	c.297G>A	c.(295-297)ggG>ggA	p.G99G	MT-TH_ENST00000387441.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	99					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						CTACACATCGGGCGAGGCCTA	0.468																																						ENST00000361789.2																			0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(295-297)ggG>ggA		mitochondrially encoded cytochrome b																																				SO:0001819	synonymous_variant	4519							g.chrM:15043G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.297G>A	M.37:g.15043G>A							p.99_99insG							1	297	+								Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.297G>A																																																																																					0.468	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038		4	38	0	0	0	1	0	4	38				
NCAM1	4684	broad.mit.edu	37	11	113105776	113105776	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:113105776C>A	ENST00000533760.1	+	13	1930	c.1331C>A	c.(1330-1332)aCc>aAc	p.T444N	NCAM1_ENST00000316851.7_Missense_Mutation_p.T562N|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.T571N	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	572	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GGCATCGTCACCATCGTGGGC	0.547																																						ENST00000316851.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1684-1686)aCc>aAc		neural cell adhesion molecule 1							24.0	26.0	25.0					11																	113105776		1979	4153	6132	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113105776C>A		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1331C>A	11.37:g.113105776C>A	ENSP00000473281:p.Thr444Asn					NCAM1_ENST00000533760.1_Missense_Mutation_p.T444N|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.T571N	p.T562N	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	13	1685	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	572			Fibronectin type-III 1.		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.1685C>A		.	.	.	.	.	.	.	.	.	.	C	20.8	4.055207	0.75960	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851;ENST00000433634	T;T	0.60920	0.15;0.15	5.84	5.84	0.93424	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.279835	0.32578	U	0.005902	T	0.79100	0.4389	.	.	.	0.47214	D	0.99935	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.77004	0.985;0.973;0.984;0.989	T	0.80538	-0.1338	9	0.87932	D	0	-43.2019	20.1336	0.98010	0.0:1.0:0.0:0.0	.	572;562;572;562	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	N	444;571;562;6	ENSP00000384055:T571N;ENSP00000318472:T562N	ENSP00000318472:T562N	T	+	2	0	NCAM1	112610986	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	2.184000	0.42575	2.767000	0.95098	0.591000	0.81541	ACC		0.547	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		10	35	1	0	0.000442599	1	0.000447535	10	35				
MYO3B	140469	broad.mit.edu	37	2	171323216	171323216	+	Silent	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:171323216G>C	ENST00000408978.4	+	25	3152	c.3009G>C	c.(3007-3009)gtG>gtC	p.V1003V	MYO3B_ENST00000409044.3_Silent_p.V1003V|MYO3B_ENST00000334231.6_Silent_p.V1012V|MYO3B_ENST00000602629.1_Intron	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	1003	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AAGAATTTGTGAAAAGGTCAG	0.532																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(3034-3036)gtG>gtC		myosin IIIB							61.0	61.0	61.0					2																	171323216		1934	4154	6088	SO:0001819	synonymous_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171323216G>C		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.3009G>C	2.37:g.171323216G>C						MYO3B_ENST00000602629.1_Intron|MYO3B_ENST00000409044.3_Silent_p.V1003V|MYO3B_ENST00000408978.4_Silent_p.V1003V	p.V1012V			Q8WXR4	MYO3B_HUMAN			25	3036	+			1003			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	c.3036G>C	CCDS42773.1																																																																																				0.532	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			59	385	0	0	0	1	0	59	385				
NFKBIA	4792	broad.mit.edu	37	14	35873637	35873637	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:35873637C>G	ENST00000216797.5	-	1	315	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	NFKBIA_ENST00000557389.1_5'Flank|NFKBIA_ENST00000557140.1_Missense_Mutation_p.E72Q|NFKBIA_ENST00000557100.1_5'UTR	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	72					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	TCCCCGTCCTCGGTGAGCTGC	0.741																																						ENST00000216797.5																			0				breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7						c.(214-216)Gag>Cag		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha							11.0	12.0	12.0					14																	35873637		2170	4249	6419	SO:0001583	missense	4792				anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding	g.chr14:35873637C>G		CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"""Ankyrin repeat domain containing"""	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.214G>C	14.37:g.35873637C>G	ENSP00000216797:p.Glu72Gln					NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Missense_Mutation_p.E72Q	p.E72Q	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	1	315	-	Breast(36;0.0484)|Hepatocellular(127;0.158)		72					B2R8L6	Missense_Mutation	SNP	ENST00000216797.5	37	c.214G>C	CCDS9656.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827293	0.90955	.	.	ENSG00000100906	ENST00000216797;ENST00000557140;ENST00000553342	T;T;D	0.88509	0.79;0.71;-2.39	3.87	3.87	0.44632	Ankyrin repeat-containing domain (1);	.	.	.	.	D	0.92567	0.7639	M	0.86864	2.845	0.80722	D	1	P;P	0.52463	0.953;0.701	P;B	0.49999	0.628;0.052	D	0.94296	0.7533	9	0.72032	D	0.01	-19.5044	16.1623	0.81730	0.0:1.0:0.0:0.0	.	72;72	G3V3I4;P25963	.;IKBA_HUMAN	Q	72;72;48	ENSP00000216797:E72Q;ENSP00000451257:E72Q;ENSP00000451281:E48Q	ENSP00000216797:E72Q	E	-	1	0	NFKBIA	34943388	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	6.977000	0.76141	1.853000	0.53794	0.313000	0.20887	GAG		0.741	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276683.1	NM_020529		11	71	0	0	0	1	0	11	71				
PIGO	84720	broad.mit.edu	37	9	35095294	35095294	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:35095294A>T	ENST00000378617.3	-	2	663	c.269T>A	c.(268-270)gTg>gAg	p.V90E	PIGO_ENST00000361778.2_Missense_Mutation_p.V90E|PIGO_ENST00000298004.5_Missense_Mutation_p.V90E|RP11-182N22.8_ENST00000431804.1_RNA|PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000341666.3_Missense_Mutation_p.V90E	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	90					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTCTCTAGGCACGTGTGAATG	0.577																																						ENST00000378617.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38						c.(268-270)gTg>gAg		phosphatidylinositol glycan anchor biosynthesis, class O							118.0	120.0	120.0					9																	35095294		2203	4300	6503	SO:0001583	missense	84720				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	g.chr9:35095294A>T	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.269T>A	9.37:g.35095294A>T	ENSP00000367880:p.Val90Glu					PIGO_ENST00000298004.5_Missense_Mutation_p.V90E|PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000361778.2_Missense_Mutation_p.V90E|PIGO_ENST00000341666.3_Missense_Mutation_p.V90E	p.V90E	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		2	663	-			90					B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	ENST00000378617.3	37	c.269T>A	CCDS6575.1	.	.	.	.	.	.	.	.	.	.	A	6.740	0.505242	0.12822	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	T;T;T;T	0.54479	0.58;0.57;0.57;0.58	5.18	-3.57	0.04612	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.152970	0.06125	N	0.669484	T	0.29389	0.0732	N	0.13235	0.315	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.12156	0.001;0.007	T	0.15665	-1.0429	10	0.22109	T	0.4	-30.4467	5.0997	0.14753	0.304:0.4722:0.1382:0.0856	.	90;90	Q8TEQ8-2;Q8TEQ8	.;PIGO_HUMAN	E	90	ENSP00000298004:V90E;ENSP00000367880:V90E;ENSP00000339382:V90E;ENSP00000354678:V90E	ENSP00000298004:V90E	V	-	2	0	PIGO	35085294	0.000000	0.05858	0.000000	0.03702	0.229000	0.25112	-0.567000	0.05916	-0.401000	0.07644	-0.400000	0.06385	GTG		0.577	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052284.1	NM_032634		48	717	0	0	0	1	0	48	717				
ZNF556	80032	broad.mit.edu	37	19	2877458	2877458	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:2877458G>A	ENST00000307635.2	+	4	589	c.502G>A	c.(502-504)Gct>Act	p.A168T	ZNF556_ENST00000586426.1_Missense_Mutation_p.A167T	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACAAAAGAGCTCACTCTGG	0.438																																						ENST00000586426.1																			0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(499-501)Gct>Act		zinc finger protein 556							107.0	104.0	105.0					19																	2877458		2203	4300	6503	SO:0001583	missense	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2877458G>A	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.502G>A	19.37:g.2877458G>A	ENSP00000302603:p.Ala168Thr					ZNF556_ENST00000307635.2_Missense_Mutation_p.A168T	p.A167T			Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	586	+			168					Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	c.499G>A	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	G	7.568	0.666085	0.14710	.	.	ENSG00000172000	ENST00000307635	T	0.00840	5.63	2.27	-0.126	0.13515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00384	0.0012	N	0.00996	-1.065	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.42965	-0.9420	9	0.18276	T	0.48	.	2.4888	0.04605	0.6077:0.0:0.1578:0.2345	.	168	Q9HAH1	ZN556_HUMAN	T	168	ENSP00000302603:A168T	ENSP00000302603:A168T	A	+	1	0	ZNF556	2828458	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.042000	0.12063	-0.395000	0.07715	-0.481000	0.04817	GCT		0.438	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		87	440	0	0	0	1	0	87	440				
PTDSS1	9791	broad.mit.edu	37	8	97311970	97311970	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:97311970C>G	ENST00000517309.1	+	6	975	c.649C>G	c.(649-651)Caa>Gaa	p.Q217E	PTDSS1_ENST00000522072.1_Missense_Mutation_p.Q14E|PTDSS1_ENST00000455950.2_Missense_Mutation_p.Q71E|PTDSS1_ENST00000518776.1_3'UTR	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	217					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CTGGTGGGATCAAGTCATTCT	0.493																																						ENST00000517309.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29						c.(649-651)Caa>Gaa		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						232.0	207.0	216.0					8																	97311970		2203	4300	6503	SO:0001583	missense	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97311970C>G	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.649C>G	8.37:g.97311970C>G	ENSP00000430548:p.Gln217Glu					PTDSS1_ENST00000522072.1_Missense_Mutation_p.Q14E|PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000455950.2_Missense_Mutation_p.Q71E	p.Q217E	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN			6	975	+	Breast(36;6.18e-05)		217					E5RFC5|Q9BUQ5	Missense_Mutation	SNP	ENST00000517309.1	37	c.649C>G	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783092	0.90282	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	T;T;T	0.43294	0.98;0.98;0.95	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.53530	0.1802	L	0.54323	1.7	0.80722	D	1	P	0.46621	0.881	P	0.52710	0.707	T	0.45614	-0.9249	10	0.38643	T	0.18	-13.9545	17.8705	0.88810	0.0:1.0:0.0:0.0	.	217	P48651	PTSS1_HUMAN	E	217;71;14	ENSP00000430548:Q217E;ENSP00000401248:Q71E;ENSP00000430928:Q14E	ENSP00000401248:Q71E	Q	+	1	0	PTDSS1	97381146	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	7.818000	0.86416	2.648000	0.89879	0.650000	0.86243	CAA		0.493	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			64	841	0	0	0	1	0	64	841				
TAMM41	132001	broad.mit.edu	37	3	11851103	11851103	+	Silent	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:11851103G>C	ENST00000444133.2	-	6	904	c.762C>G	c.(760-762)acC>acG	p.T254T	TAMM41_ENST00000455809.1_Silent_p.T254T|TAMM41_ENST00000273037.5_Silent_p.T254T			Q96BW9	TAM41_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	254					cardiolipin biosynthetic process (GO:0032049)|CDP-diacylglycerol biosynthetic process (GO:0016024)	extrinsic component of mitochondrial inner membrane (GO:0031314)	phosphatidate cytidylyltransferase activity (GO:0004605)										GTTGCTGTAAGGTTTTGGGCA	0.418																																						ENST00000444133.2																			0											c.(760-762)acC>acG		TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)							149.0	143.0	145.0					3																	11851103		2203	4300	6503	SO:0001819	synonymous_variant	132001				protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane		g.chr3:11851103G>C		CCDS2607.1, CCDS68345.1	3p25.2	2013-10-18	2011-08-09	2011-08-09	ENSG00000144559	ENSG00000144559			25187	protein-coding gene	gene with protein product		614948	"""chromosome 3 open reading frame 31"""	C3orf31		19237595	Standard	XM_005264873		Approved	MGC16471, DKFZp434E0519	uc003bwh.3	Q96BW9	OTTHUMG00000129741	ENST00000444133.2:c.762C>G	3.37:g.11851103G>C						TAMM41_ENST00000273037.5_Silent_p.T254T|TAMM41_ENST00000455809.1_Silent_p.T254T	p.T254T			Q96BW9	MMP37_HUMAN			6	904	-			254					B4DIY7|C9J2U4	Silent	SNP	ENST00000444133.2	37	c.762C>G																																																																																					0.418	TAMM41-008	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000339258.2	NM_138807		39	457	0	0	0	1	0	39	457				
MT-ND2	4536	broad.mit.edu	37	M	1736	1736	+	5'Flank	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:1736A>G	ENST00000361453.3	+	0	0				MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						ACCATTTACCCAAATAAAGTA	0.403																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:1736A>G			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.1736A>G	Exception_encountered							NR_039705.1						0	66	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.403	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		19	68	0	0	0	1	0	19	68				
VPS13B	157680	broad.mit.edu	37	8	100155279	100155279	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:100155279C>G	ENST00000358544.2	+	13	1840	c.1729C>G	c.(1729-1731)Ctt>Gtt	p.L577V	VPS13B_ENST00000357162.2_Missense_Mutation_p.L577V|VPS13B_ENST00000395996.1_Missense_Mutation_p.L577V|VPS13B_ENST00000355155.1_Missense_Mutation_p.L577V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	577					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CACCAAAAGCCTTGTTATAGG	0.373																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(1729-1731)Ctt>Gtt		vacuolar protein sorting 13 homolog B (yeast)							122.0	119.0	120.0					8																	100155279		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100155279C>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1729C>G	8.37:g.100155279C>G	ENSP00000351346:p.Leu577Val					VPS13B_ENST00000357162.2_Missense_Mutation_p.L577V|VPS13B_ENST00000355155.1_Missense_Mutation_p.L577V|VPS13B_ENST00000358544.2_Missense_Mutation_p.L577V	p.L577V			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		13	1840	+	Breast(36;3.73e-07)		577					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.1729C>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	9.575	1.122042	0.20877	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.76709	-1.04;-0.33;-0.33;-0.03	5.43	5.43	0.79202	.	0.097761	0.44285	D	0.000464	T	0.65729	0.2719	L	0.27053	0.805	0.44085	D	0.996848	P;P;P;P;P	0.40211	0.565;0.707;0.583;0.565;0.565	B;B;B;B;B	0.37888	0.26;0.26;0.133;0.26;0.26	T	0.64149	-0.6475	10	0.20046	T	0.44	.	14.9991	0.71459	0.1513:0.8487:0.0:0.0	.	577;577;577;577;577	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	V	577	ENSP00000347281:L577V;ENSP00000349685:L577V;ENSP00000351346:L577V;ENSP00000379318:L577V	ENSP00000347281:L577V	L	+	1	0	VPS13B	100224455	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.304000	0.43655	2.531000	0.85337	0.591000	0.81541	CTT		0.373	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		143	335	0	0	0	1	0	143	335				
MT-CO3	4514	broad.mit.edu	37	M	9656	9656	+	Silent	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:9656T>C	ENST00000362079.2	+	1	450	c.450T>C	c.(448-450)agT>agC	p.S150S	MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-ND4_ENST00000361381.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TR_ENST00000387439.1_RNA			P00414	COX3_HUMAN	mitochondrially encoded cytochrome c oxidase III	150					aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						GCTCACCATAGTCTAATAGAA	0.443																																						ENST00000362079.2																			0				breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						c.(448-450)agT>agC		mitochondrially encoded cytochrome c oxidase III																																				SO:0001819	synonymous_variant	4514							g.chrM:9656T>C			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938		"""Mitochondrial respiratory chain complex / Complex IV"""	7422	protein-coding gene	gene with protein product		516050	"""cytochrome c oxidase III"""	MTCO3			Standard			Approved	COX3, COIII, CO3		P00414		ENST00000362079.2:c.450T>C	M.37:g.9656T>C							p.150_150insS							1	450	+								Q14Y83	Missense_Mutation	SNP	ENST00000362079.2	37	c.450T>C																																																																																					0.443	MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024032		7	105	0	0	0	1	0	7	105				
OR1J2	26740	broad.mit.edu	37	9	125273681	125273681	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:125273681A>G	ENST00000335302.5	+	1	601	c.601A>G	c.(601-603)Aca>Gca	p.T201A		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						GGTCATGTTCACAGTAGGGGT	0.517																																						ENST00000335302.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						c.(601-603)Aca>Gca		olfactory receptor, family 1, subfamily J, member 2							143.0	116.0	125.0					9																	125273681		2203	4300	6503	SO:0001583	missense	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273681A>G		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.601A>G	9.37:g.125273681A>G	ENSP00000335575:p.Thr201Ala						p.T201A	NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN			1	601	+			201					A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	c.601A>G	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	A	12.30	1.897443	0.33535	.	.	ENSG00000197233	ENST00000335302	T	0.00051	8.81	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.190676	0.25391	U	0.031011	T	0.00144	0.0004	N	0.20401	0.57	0.09310	N	1	B	0.14438	0.01	B	0.26693	0.072	T	0.44907	-0.9297	10	0.38643	T	0.18	.	13.7117	0.62672	1.0:0.0:0.0:0.0	.	201	Q8NGS2	OR1J2_HUMAN	A	201	ENSP00000335575:T201A	ENSP00000335575:T201A	T	+	1	0	OR1J2	124313502	0.000000	0.05858	0.174000	0.22961	0.009000	0.06853	0.633000	0.24598	2.085000	0.62840	0.529000	0.55759	ACA		0.517	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			74	330	0	0	0	1	0	74	330				
FNBP1	23048	broad.mit.edu	37	9	132662705	132662705	+	Splice_Site	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:132662705C>T	ENST00000446176.2	-	14	1736	c.1550G>A	c.(1549-1551)aGc>aAc	p.S517N	FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000355681.3_Splice_Site_p.S488N|FNBP1_ENST00000420781.1_Splice_Site_p.S508N|FNBP1_ENST00000443566.2_Splice_Site_p.S145N	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	517	Interaction with PDE6G. {ECO:0000250}.|Interaction with RND2. {ECO:0000250}.|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GATACTGTACCTCTCACGGTC	0.572			T	MLL	AML																																	ENST00000420781.1				Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		0											c.e14+1		formin binding protein 1							39.0	44.0	42.0					9																	132662705		2025	4174	6199	SO:0001630	splice_region_variant	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132662705C>T	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.1550+1G>A	9.37:g.132662705C>T						FNBP1_ENST00000443566.2_Splice_Site_p.S145_splice|FNBP1_ENST00000446176.2_Splice_Site_p.S517_splice|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000355681.3_Splice_Site_p.S488_splice	p.S508_splice			Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	14	1741	-		Ovarian(14;0.000536)	517			Interaction with PDE6G (By similarity).|Interaction with RND2 (By similarity).|Required for self-association and induction of membrane tubulation.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Splice_Site	SNP	ENST00000446176.2	37	c.1523_splice	CCDS48040.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.66|19.66	3.869244|3.869244	0.72065|0.72065	.|.	.|.	ENSG00000187239|ENSG00000187239	ENST00000449089|ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000443566;ENST00000355681	.|T;T;T;T	.|0.74002	.|-0.8;-0.8;-0.8;-0.8	4.36|4.36	4.36|4.36	0.52297|0.52297	.|.	.|0.178639	.|0.64402	.|D	.|0.000015	D|D	0.85026|0.85026	0.5603|0.5603	M|M	0.74881|0.74881	2.28|2.28	0.58432|0.58432	D|D	0.999993|0.999993	.|D;D;D;D;P;D;D;D	.|0.89917	.|0.997;0.999;0.997;0.967;0.794;1.0;0.979;0.999	.|D;D;D;P;P;D;P;D	.|0.73380	.|0.922;0.978;0.938;0.852;0.618;0.98;0.835;0.942	D|D	0.85688|0.85688	0.1305|0.1305	5|9	.|.	.|.	.|.	-34.4769|-34.4769	16.4132|16.4132	0.83726|0.83726	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|512;507;145;451;488;468;512;517	.|B7ZL12;B7ZL13;E7EPB7;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3	.|.;.;.;.;.;.;.;FNBP1_HUMAN	T|N	469|517;517;508;517;145;488	.|ENSP00000413625:S517N;ENSP00000407548:S508N;ENSP00000389117:S145N;ENSP00000347907:S488N	.|.	A|S	-|-	1|2	0|0	FNBP1|FNBP1	131702526|131702526	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.516000|0.516000	0.34256|0.34256	6.738000|6.738000	0.74822|0.74822	2.405000|2.405000	0.81733|0.81733	0.462000|0.462000	0.41574|0.41574	GCC|AGC		0.572	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2		Missense_Mutation	9	73	0	0	0	1	0	9	73				
CTD-2066L21.3	0	broad.mit.edu	37	5	33162639	33162639	+	lincRNA	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:33162639T>C	ENST00000510327.1	-	0	346																											TCCCACTACGTGCTGCCCCTG	0.463																																						ENST00000510327.1																			0																																																			0							g.chr5:33162639T>C																													5.37:g.33162639T>C														0	346	-									RNA	SNP	ENST00000510327.1	37																																																																																						0.463	CTD-2066L21.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366718.1			9	157	0	0	0	1	0	9	157				
GLI3	2737	broad.mit.edu	37	7	42012195	42012195	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr7:42012195G>C	ENST00000395925.3	-	13	1928	c.1844C>G	c.(1843-1845)aCt>aGt	p.T615S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	615					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTAACGCTTAGTGCAGCCTGG	0.507									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3																			0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(1843-1845)aCt>aGt		GLI family zinc finger 3							76.0	74.0	74.0					7																	42012195		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42012195G>C		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1844C>G	7.37:g.42012195G>C	ENSP00000379258:p.Thr615Ser					GLI3_ENST00000479210.1_5'UTR	p.T615S	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN			13	1928	-			615					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.1844C>G	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015304	0.93404	.	.	ENSG00000106571	ENST00000395925	T	0.50277	0.75	5.92	5.92	0.95590	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	N	0.10760	0.04	0.80722	D	1	B	0.32893	0.389	P	0.45071	0.468	T	0.52510	-0.8566	10	0.87932	D	0	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	615	P10071	GLI3_HUMAN	S	615	ENSP00000379258:T615S	ENSP00000379258:T615S	T	-	2	0	GLI3	41978720	1.000000	0.71417	0.969000	0.41365	0.996000	0.88848	9.869000	0.99810	2.804000	0.96469	0.655000	0.94253	ACT		0.507	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		40	226	0	0	0	1	0	40	226				
MT-CO1	4512	broad.mit.edu	37	M	6293	6293	+	Silent	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:6293T>C	ENST00000361624.2	+	1	390	c.390T>C	c.(388-390)ccT>ccC	p.P130P	MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	130					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						ACAGTCTACCCTCCCTTAGCA	0.517																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(388-390)ccT>ccC		mitochondrially encoded cytochrome c oxidase I																																				SO:0001819	synonymous_variant	4512							g.chrM:6293T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.390T>C	M.37:g.6293T>C							p.130_130insP							1	390	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.390T>C																																																																																					0.517	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		23	118	0	0	0	1	0	23	118				
KIAA1467	57613	broad.mit.edu	37	12	13219646	13219646	+	Missense_Mutation	SNP	G	G	A	rs145573782		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:13219646G>A	ENST00000197268.8	+	6	1045	c.925G>A	c.(925-927)Gtt>Att	p.V309I		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	309						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GTACAACATCGTTGGAGTTGG	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		20873	0.001		0.0	False		,,,				2504	0.0					ENST00000197268.8																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.(925-927)Gtt>Att		KIAA1467							182.0	156.0	165.0					12																	13219646		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13219646G>A	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.925G>A	12.37:g.13219646G>A	ENSP00000197268:p.Val309Ile						p.V309I	NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	6	1045	+		Prostate(47;0.184)	309					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.925G>A	CCDS31750.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.65	1.702571	0.30232	.	.	ENSG00000084444	ENST00000197268;ENST00000537625	T	0.21734	1.99	5.58	2.75	0.32379	.	0.151025	0.64402	D	0.000015	T	0.12305	0.0299	L	0.31294	0.92	0.26197	N	0.9795	B	0.25235	0.121	B	0.14023	0.01	T	0.13469	-1.0508	10	0.34782	T	0.22	-13.0986	6.2254	0.20706	0.352:0.0:0.648:0.0	.	309	A2RU67	K1467_HUMAN	I	309;85	ENSP00000437974:V85I	ENSP00000197268:V309I	V	+	1	0	KIAA1467	13110913	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.709000	0.37909	1.352000	0.45808	0.650000	0.86243	GTT		0.507	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853		18	399	0	0	0	1	0	18	399				
MT-ND4	4538	broad.mit.edu	37	M	11251	11251	+	Silent	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:11251A>G	ENST00000361381.2	+	1	492	c.492A>G	c.(490-492)ctA>ctG	p.L164L	MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TR_ENST00000387439.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	164					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						CTCATCGCACTAATTTACACT	0.473																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(490-492)ctA>ctG		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001819	synonymous_variant	4538							g.chrM:11251A>G			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.492A>G	M.37:g.11251A>G							p.164_164insL							1	492	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.492A>G																																																																																					0.473	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		17	70	0	0	0	1	0	17	70				
FRYL	285527	broad.mit.edu	37	4	48605373	48605373	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:48605373C>G	ENST00000503238.1	-	9	866	c.867G>C	c.(865-867)ttG>ttC	p.L289F	FRYL_ENST00000507711.1_Missense_Mutation_p.L289F|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.L289F|FRYL_ENST00000506685.1_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.L289F			O94915	FRYL_HUMAN	FRY-like	289					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAAAATTTTTCAAACAGGGAA	0.289																																						ENST00000537810.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(865-867)ttG>ttC		FRY-like							67.0	63.0	64.0					4																	48605373		1811	4058	5869	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48605373C>G	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.867G>C	4.37:g.48605373C>G	ENSP00000426064:p.Leu289Phe					FRYL_ENST00000503238.1_Missense_Mutation_p.L289F|FRYL_ENST00000506685.1_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.L289F|FRYL_ENST00000358350.4_Missense_Mutation_p.L289F	p.L289F			O94915	FRYL_HUMAN			12	1471	-			289					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.867G>C	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730434	0.89390	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.16	5.57	5.57	0.84162	Armadillo-type fold (1);	0.000000	0.53938	U	0.000057	T	0.81711	0.4880	M	0.71581	2.175	0.80722	D	1	D;P	0.69078	0.997;0.943	D;P	0.79108	0.992;0.874	T	0.80795	-0.1223	10	0.45353	T	0.12	.	19.5444	0.95285	0.0:1.0:0.0:0.0	.	289;289	F2Z2S2;O94915	.;FRYL_HUMAN	F	289	ENSP00000426064:L289F;ENSP00000351113:L289F;ENSP00000441114:L289F;ENSP00000421584:L289F	ENSP00000351113:L289F	L	-	3	2	FRYL	48300130	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.964000	0.49192	2.628000	0.89032	0.655000	0.94253	TTG		0.289	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			46	318	0	0	0	1	0	46	318				
NOS2	4843	broad.mit.edu	37	17	26108128	26108128	+	Silent	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:26108128G>T	ENST00000313735.6	-	8	1031	c.798C>A	c.(796-798)cgC>cgA	p.R266R		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	266				R -> H (in Ref. 8; AAC19133). {ECO:0000305}.	arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	AGCCAGCATAGCGGATGAGCT	0.612																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(796-798)cgC>cgA		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						91.0	79.0	83.0					17																	26108128		2203	4300	6503	SO:0001819	synonymous_variant	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26108128G>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.798C>A	17.37:g.26108128G>T							p.R266R	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			8	1031	-			266	R -> H (in Ref. 8; AAC19133).				A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	c.798C>A	CCDS11223.1																																																																																				0.612	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		13	406	1	0	1.05317e-09	1	1.08508e-09	13	406				
KRT39	390792	broad.mit.edu	37	17	39114945	39114945	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:39114945A>G	ENST00000355612.2	-	7	1419	c.1384T>C	c.(1384-1386)Tgc>Cgc	p.C462R	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	462	Tail.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GTGATGGTGCAAATTTTAACC	0.507																																						ENST00000355612.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17						c.(1384-1386)Tgc>Cgc		keratin 39							133.0	122.0	126.0					17																	39114945		2203	4296	6499	SO:0001583	missense	390792					intermediate filament	structural molecule activity	g.chr17:39114945A>G	AJ786657	CCDS11382.1	17q21.2	2013-01-16			ENSG00000196859	ENSG00000196859		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	32971	protein-coding gene	gene with protein product						16831889	Standard	NM_213656		Approved	KA35	uc002hvo.1	Q6A163	OTTHUMG00000133424	ENST00000355612.2:c.1384T>C	17.37:g.39114945A>G	ENSP00000347823:p.Cys462Arg					AC004231.2_ENST00000418393.1_RNA	p.C462R	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN			7	1419	-		Breast(137;0.00043)|Ovarian(249;0.15)	462			Tail.		B2RXK6|Q6IFU6	Missense_Mutation	SNP	ENST00000355612.2	37	c.1384T>C	CCDS11382.1	.	.	.	.	.	.	.	.	.	.	A	9.108	1.005788	0.19199	.	.	ENSG00000196859	ENST00000355612	T	0.81078	-1.45	5.54	2.11	0.27256	.	0.716870	0.12158	N	0.494267	T	0.69142	0.3078	L	0.52573	1.65	0.43485	D	0.995715	B	0.13145	0.007	B	0.06405	0.002	T	0.54105	-0.8343	10	0.02654	T	1	.	7.8536	0.29470	0.6667:0.0:0.3333:0.0	.	462	Q6A163	K1C39_HUMAN	R	462	ENSP00000347823:C462R	ENSP00000347823:C462R	C	-	1	0	KRT39	36368471	0.842000	0.29525	0.990000	0.47175	0.882000	0.50991	1.164000	0.31810	0.075000	0.16796	-0.290000	0.09829	TGC		0.507	KRT39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257287.1	NM_213656		16	513	0	0	0	1	0	16	513				
HBE1	3046	broad.mit.edu	37	11	5289744	5289744	+	Missense_Mutation	SNP	C	C	G	rs529015660		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:5289744C>G	ENST00000380237.1	-	5	743	c.399G>C	c.(397-399)aaG>aaC	p.K133N	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.K133N|HBG2_ENST00000380259.2_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	133					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGACACCAGCTTCTGCCAGG	0.532																																						ENST00000380237.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20						c.(397-399)aaG>aaC		hemoglobin, epsilon 1							161.0	141.0	148.0					11																	5289744		2201	4298	6499	SO:0001583	missense	3046				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5289744C>G	BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.399G>C	11.37:g.5289744C>G	ENSP00000369586:p.Lys133Asn					HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.K133N|HBG2_ENST00000380252.1_Intron	p.K133N			P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	743	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	133					Q6FH44	Missense_Mutation	SNP	ENST00000380237.1	37	c.399G>C	CCDS7756.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853467	0.71719	.	.	ENSG00000213931	ENST00000380237;ENST00000292896	D;D	0.95482	-3.72;-3.72	6.06	2.03	0.26663	Globin-like (1);Globin, structural domain (1);	0.065321	0.64402	U	0.000014	D	0.97971	0.9332	H	0.96662	3.86	0.58432	D	0.999993	D	0.76494	0.999	D	0.65874	0.939	D	0.96683	0.9505	10	0.87932	D	0	-25.6695	8.6332	0.33933	0.0:0.6625:0.0:0.3375	.	133	P02100	HBE_HUMAN	N	133	ENSP00000369586:K133N;ENSP00000292896:K133N	ENSP00000292896:K133N	K	-	3	2	HBE1	5246320	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	1.268000	0.33062	0.113000	0.18004	-0.150000	0.13652	AAG		0.532	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330		109	531	0	0	0	1	0	109	531				
WDR45	11152	broad.mit.edu	37	X	48932560	48932560	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:48932560C>G	ENST00000376372.3	-	11	1166	c.985G>C	c.(985-987)Gat>Cat	p.D329H	PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000465431.1_5'Flank|WDR45_ENST00000322995.8_Missense_Mutation_p.D340H|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000473974.1_Missense_Mutation_p.R246T|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000396681.4_Missense_Mutation_p.D315H|WDR45_ENST00000356463.3_Missense_Mutation_p.D330H|WDR45_ENST00000485908.1_Missense_Mutation_p.D294H|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000376368.2_Missense_Mutation_p.D330H	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	329					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						AAGGTCCCATCTACGCAGATG	0.537																																						ENST00000356463.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						c.(988-990)Gat>Cat		WD repeat domain 45							60.0	59.0	59.0					X																	48932560		2203	4300	6503	SO:0001583	missense	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48932560C>G	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.985G>C	X.37:g.48932560C>G	ENSP00000365551:p.Asp329His					WDR45_ENST00000396681.4_Missense_Mutation_p.D315H|WDR45_ENST00000376358.3_Intron|WDR45_ENST00000376368.2_Missense_Mutation_p.D330H|WDR45_ENST00000376372.3_Missense_Mutation_p.D329H|WDR45_ENST00000470270.1_Intron|WDR45_ENST00000322995.8_Missense_Mutation_p.D340H|WDR45_ENST00000485908.1_Missense_Mutation_p.D294H|WDR45_ENST00000473974.1_Missense_Mutation_p.R246T|WDR45_ENST00000553851.1_Intron	p.D330H	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN			12	1426	-			329					A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	c.988G>C	CCDS35250.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.82|17.82|17.82	3.483550|3.483550|3.483550	0.63962|0.63962|0.63962	.|.|.	.|.|.	ENSG00000196998|ENSG00000196998|ENSG00000196998	ENST00000486337|ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000376368;ENST00000396681|ENST00000367375;ENST00000473974;ENST00000475977	.|D;D;D;D;D;D|T;T	.|0.81659|0.79033	.|-1.52;-1.52;-1.52;-1.52;-1.52;-1.52|-1.23;-0.07	4.98|4.98|4.98	4.12|4.12|4.12	0.48240|0.48240|0.48240	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	.|T|T	.|0.76026|0.76026	.|0.3930|0.3930	M|M|M	0.78637|0.78637|0.78637	2.42|2.42|2.42	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D|B	.|0.89917|0.02656	.|1.0;1.0;1.0;1.0|0.0	.|D;D;D;D|B	.|0.87578|0.01281	.|0.998;0.992;0.996;0.985|0.0	.|T|T	.|0.71368|0.71368	.|-0.4614|-0.4614	.|10|8	.|0.87932|.	.|D|.	.|0|.	.|-10.0566|-10.0566	11.9902|11.9902|11.9902	0.53171|0.53171|0.53171	0.0:0.91:0.0:0.09|0.0:0.91:0.0:0.09|0.0:0.91:0.0:0.09	.|.|.	.|340;294;330;329|246	.|Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484|C9J471	.|.;.;.;WIPI4_HUMAN|.	.|H|T	-1|329;340;330;294;330;315|255;246;108	.|ENSP00000365551:D329H;ENSP00000365543:D340H;ENSP00000348848:D330H;ENSP00000419897:D294H;ENSP00000365546:D330H;ENSP00000379913:D315H|ENSP00000417211:R246T;ENSP00000417754:R108T	.|ENSP00000365543:D340H|.	.|D|R	-|-|-	.|1|2	.|0|0	WDR45|WDR45|WDR45	48819504|48819504|48819504	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.992000|0.992000|0.992000	0.48379|0.48379|0.48379	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	7.234000|7.234000|7.234000	0.78134|0.78134|0.78134	1.169000|1.169000|1.169000	0.42739|0.42739|0.42739	0.600000|0.600000|0.600000	0.82982|0.82982|0.82982	.|GAT|AGA		0.537	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		18	278	0	0	0	1	0	18	278				
EOMES	8320	broad.mit.edu	37	3	27759190	27759190	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:27759190C>A	ENST00000295743.4	-	6	1635	c.1432G>T	c.(1432-1434)Gag>Tag	p.E478*	EOMES_ENST00000461503.1_5'Flank|EOMES_ENST00000449599.1_Nonsense_Mutation_p.E497*|EOMES_ENST00000537516.1_Nonsense_Mutation_p.E202*			O95936	EOMES_HUMAN	eomesodermin	478					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ACAAAGGGCTCCGGGAAGAAG	0.527																																						ENST00000295743.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						c.(1432-1434)Gag>Tag		eomesodermin							79.0	84.0	82.0					3																	27759190		2203	4300	6503	SO:0001587	stop_gained	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27759190C>A	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1432G>T	3.37:g.27759190C>A	ENSP00000295743:p.Glu478*					EOMES_ENST00000537516.1_Nonsense_Mutation_p.E202*|EOMES_ENST00000449599.1_Nonsense_Mutation_p.E497*	p.E478*			O95936	EOMES_HUMAN			6	1635	-			478					B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Nonsense_Mutation	SNP	ENST00000295743.4	37	c.1432G>T	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	C	38	7.132100	0.98085	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	.	.	.	5.1	5.1	0.69264	.	1.323980	0.04968	N	0.463351	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	19.4135	0.94685	0.0:1.0:0.0:0.0	.	.	.	.	X	478;497;202;362	.	ENSP00000295743:E478X	E	-	1	0	EOMES	27734194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.769000	0.95229	0.655000	0.94253	GAG		0.527	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		40	435	1	0	1.96642e-18	1	2.09751e-18	40	435				
CACNA1C	775	broad.mit.edu	37	12	2760901	2760901	+	Silent	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:2760901G>C	ENST00000347598.4	+	34	4185	c.4185G>C	c.(4183-4185)cgG>cgC	p.R1395R	CACNA1C_ENST00000406454.3_Silent_p.R1347R|CACNA1C_ENST00000327702.7_Silent_p.R1347R|CACNA1C_ENST00000344100.3_Silent_p.R1369R|CACNA1C_ENST00000399638.1_Silent_p.R1375R|CACNA1C_ENST00000399655.1_Silent_p.R1347R|CACNA1C_ENST00000399641.1_Silent_p.R1347R|CACNA1C_ENST00000399634.1_Silent_p.R1347R|CACNA1C_ENST00000335762.5_Silent_p.R1372R|CACNA1C_ENST00000402845.3_Silent_p.R1347R|CACNA1C_ENST00000399649.1_Silent_p.R1334R|CACNA1C_ENST00000399644.1_Silent_p.R1347R|CACNA1C_ENST00000399617.1_Silent_p.R1347R|CACNA1C_ENST00000399637.1_Silent_p.R1347R|CACNA1C_ENST00000399595.1_Silent_p.R1336R|CACNA1C_ENST00000399629.1_Silent_p.R1364R|CACNA1C_ENST00000399603.1_Silent_p.R1347R|CACNA1C_ENST00000399591.1_Silent_p.R1336R|CACNA1C_ENST00000399621.1_Silent_p.R1347R|CACNA1C_ENST00000399606.1_Silent_p.R1367R|CACNA1C_ENST00000399597.1_Silent_p.R1347R|CACNA1C_ENST00000399601.1_Silent_p.R1347R	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1395					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGGGCATCCGGACGCTGCTGT	0.637																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(4039-4041)cgG>cgC		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						50.0	60.0	57.0					12																	2760901		2200	4299	6499	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2760901G>C	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4185G>C	12.37:g.2760901G>C						CACNA1C_ENST00000399601.1_Silent_p.R1347R|CACNA1C_ENST00000399603.1_Silent_p.R1347R|CACNA1C_ENST00000399637.1_Silent_p.R1347R|CACNA1C_ENST00000327702.7_Silent_p.R1347R|CACNA1C_ENST00000335762.5_Silent_p.R1372R|CACNA1C_ENST00000399638.1_Silent_p.R1375R|CACNA1C_ENST00000399621.1_Silent_p.R1347R|CACNA1C_ENST00000399591.1_Silent_p.R1336R|CACNA1C_ENST00000406454.3_Silent_p.R1347R|CACNA1C_ENST00000399649.1_Silent_p.R1334R|CACNA1C_ENST00000399617.1_Silent_p.R1347R|CACNA1C_ENST00000399629.1_Silent_p.R1364R|CACNA1C_ENST00000399644.1_Silent_p.R1347R|CACNA1C_ENST00000347598.4_Silent_p.R1395R|CACNA1C_ENST00000399595.1_Silent_p.R1336R|CACNA1C_ENST00000399606.1_Silent_p.R1367R|CACNA1C_ENST00000399641.1_Silent_p.R1347R|CACNA1C_ENST00000399634.1_Silent_p.R1347R|CACNA1C_ENST00000399597.1_Silent_p.R1347R|CACNA1C_ENST00000344100.3_Silent_p.R1369R|CACNA1C_ENST00000402845.3_Silent_p.R1347R	p.R1347R	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	32	4306	+			1395					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.4041G>C	CCDS44788.1																																																																																				0.637	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		39	205	0	0	0	1	0	39	205				
MYO9B	4650	broad.mit.edu	37	19	17311139	17311139	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:17311139G>C	ENST00000594824.1	+	25	4423	c.4276G>C	c.(4276-4278)Gat>Cat	p.D1426H	MYO9B_ENST00000595618.1_Missense_Mutation_p.D1426H|MYO9B_ENST00000397274.2_Missense_Mutation_p.D1426H			Q13459	MYO9B_HUMAN	myosin IXB	1426	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TAAAACCAAGGATAAAAAATA	0.507																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(4276-4278)Gat>Cat		myosin IXB							36.0	39.0	38.0					19																	17311139		1962	4146	6108	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17311139G>C		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4276G>C	19.37:g.17311139G>C	ENSP00000471367:p.Asp1426His					MYO9B_ENST00000594824.1_Missense_Mutation_p.D1426H|MYO9B_ENST00000397274.2_Missense_Mutation_p.D1426H	p.D1426H	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			25	4428	+			1426			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.4276G>C		.	.	.	.	.	.	.	.	.	.	G	21.5	4.155468	0.78114	.	.	ENSG00000099331	ENST00000397274	D	0.86030	-2.06	4.76	4.76	0.60689	.	0.212611	0.32204	N	0.006434	D	0.90693	0.7080	M	0.63843	1.955	0.43603	D	0.995964	D;D;D	0.89917	0.999;0.999;1.0	P;P;D	0.87578	0.903;0.903;0.998	D	0.91619	0.5309	10	0.72032	D	0.01	.	14.486	0.67616	0.0:0.0:1.0:0.0	.	1426;1426;1432	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	H	1426	ENSP00000380444:D1426H	ENSP00000380444:D1426H	D	+	1	0	MYO9B	17172139	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	4.736000	0.62059	2.193000	0.70182	0.491000	0.48974	GAT		0.507	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			9	105	0	0	0	1	0	9	105				
MT-CO1	4512	broad.mit.edu	37	M	6249	6249	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:6249G>A	ENST00000361624.2	+	1	346	c.346G>A	c.(346-348)Gct>Act	p.A116T	MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	116					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TGCTCGCATCTGCTATAGTGG	0.532																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(346-348)Gct>Act		mitochondrially encoded cytochrome c oxidase I																																				SO:0001583	missense	4512							g.chrM:6249G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.346G>A	M.37:g.6249G>A	ENSP00000354499:p.Ala116Thr						p.116_116insT							1	346	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.346G>A																																																																																					0.532	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		7	109	0	0	0	1	0	7	109				
PDE8B	8622	broad.mit.edu	37	5	76507011	76507011	+	Silent	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:76507011G>A	ENST00000264917.5	+	1	306	c.261G>A	c.(259-261)gcG>gcA	p.A87A	PDE8B_ENST00000333194.4_Silent_p.A87A|PDE8B_ENST00000340978.3_Silent_p.A87A|PDE8B_ENST00000342343.4_Silent_p.A87A|PDE8B_ENST00000346042.3_Silent_p.A87A	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	87					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	CCCCCGCCGCGACCACCAGCA	0.751																																						ENST00000264917.5																		GMDS/PDE8B(2)	0				NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(259-261)gcG>gcA		phosphodiesterase 8B							3.0	3.0	3.0					5																	76507011		1136	2730	3866	SO:0001819	synonymous_variant	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76507011G>A	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.261G>A	5.37:g.76507011G>A						PDE8B_ENST00000333194.4_Silent_p.A87A|PDE8B_ENST00000340978.3_Silent_p.A87A|PDE8B_ENST00000346042.3_Silent_p.A87A|PDE8B_ENST00000342343.4_Silent_p.A87A	p.A87A	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	1	306	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	87					Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	ENST00000264917.5	37	c.261G>A	CCDS4037.1																																																																																				0.751	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	NM_003719		7	10	0	0	0	1	0	7	10				
MT-ND4	4538	broad.mit.edu	37	M	10873	10873	+	Silent	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:10873T>C	ENST00000361381.2	+	1	114	c.114T>C	c.(112-114)ccT>ccC	p.P38P	MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TR_ENST00000387439.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	38					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						AGCATCATCCCCCTACTATTT	0.403																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(112-114)ccT>ccC		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001819	synonymous_variant	4538							g.chrM:10873T>C			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.114T>C	M.37:g.10873T>C							p.38_38insP							1	114	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.114T>C																																																																																					0.403	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		10	62	0	0	0	1	0	10	62				
TAOK1	57551	broad.mit.edu	37	17	27857472	27857472	+	Silent	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:27857472C>T	ENST00000261716.3	+	18	2715	c.2196C>T	c.(2194-2196)atC>atT	p.I732I	TAOK1_ENST00000536202.1_Silent_p.I584I	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	732					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CCTGCAAAATCCAAACCAGAC	0.393																																						ENST00000261716.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(2194-2196)atC>atT		TAO kinase 1							69.0	62.0	64.0					17																	27857472		2203	4300	6503	SO:0001819	synonymous_variant	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27857472C>T	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.2196C>T	17.37:g.27857472C>T						TAOK1_ENST00000536202.1_Silent_p.I584I	p.I732I	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		18	2715	+			732					A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Silent	SNP	ENST00000261716.3	37	c.2196C>T	CCDS32601.1																																																																																				0.393	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		27	198	0	0	0	1	0	27	198				
GLOD5	392465	broad.mit.edu	37	X	48624245	48624245	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:48624245G>T	ENST00000303227.6	+	2	110	c.69G>T	c.(67-69)tgG>tgT	p.W23C	GLOD5_ENST00000470676.1_3'UTR	NM_001080489.2	NP_001073958.2	A6NK44	GLOD5_HUMAN	glyoxalase domain containing 5	23										endometrium(1)|lung(2)	3						TTTAGTCATGGAGGGACAGCA	0.473																																						ENST00000303227.6																			0				endometrium(1)|lung(2)	3						c.(67-69)tgG>tgT		glyoxalase domain containing 5							52.0	42.0	45.0					X																	48624245		1937	4122	6059	SO:0001583	missense	392465							g.chrX:48624245G>T		CCDS55410.1	Xp11.23	2008-02-05			ENSG00000171433	ENSG00000171433			33358	protein-coding gene	gene with protein product							Standard	NM_001080489		Approved		uc011mmh.2	A6NK44	OTTHUMG00000024125	ENST00000303227.6:c.69G>T	X.37:g.48624245G>T	ENSP00000302552:p.Trp23Cys					GLOD5_ENST00000470676.1_3'UTR	p.W23C	NM_001080489.2	NP_001073958.2					2	110	+									Missense_Mutation	SNP	ENST00000303227.6	37	c.69G>T	CCDS55410.1	.	.	.	.	.	.	.	.	.	.	g	15.29	2.788427	0.49997	.	.	ENSG00000171433	ENST00000303227	.	.	.	4.59	2.76	0.32466	.	0.885835	0.09943	N	0.735617	T	0.35770	0.0943	L	0.36672	1.1	0.25045	N	0.991171	D;D	0.58620	0.983;0.981	P;P	0.51193	0.533;0.662	T	0.12528	-1.0544	9	0.38643	T	0.18	.	6.9832	0.24713	0.1047:0.1779:0.7173:0.0	.	11;20	A6NK44;C9J7J3	GLOD5_HUMAN;.	C	23	.	ENSP00000302552:W23C	W	+	3	0	GLOD5	48509189	0.952000	0.32445	0.318000	0.25279	0.186000	0.23388	1.907000	0.39897	1.054000	0.40438	0.464000	0.42555	TGG		0.473	GLOD5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080489		5	65	1	0	1	1	1	5	65				
MT-ND6	4541	broad.mit.edu	37	M	14233	14233	+	Silent	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:14233A>G	ENST00000361681.2	-	1	440	c.441T>C	c.(439-441)gaT>gaC	p.D147D	MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	147					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						CAACGCCCATAATCATACAAA	0.408																																						ENST00000361681.2																			0				breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						c.(439-441)gaT>gaC		mitochondrially encoded NADH dehydrogenase 6																																				SO:0001819	synonymous_variant	4541							g.chrM:14233A>G			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.441T>C	M.37:g.14233A>G							p.D147D							1	440	-								Q34774|Q8HG30	Silent	SNP	ENST00000361681.2	37	c.441T>C																																																																																					0.408	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024037		7	35	0	0	0	1	0	7	35				
TMOD1	7111	broad.mit.edu	37	9	100328234	100328234	+	Silent	SNP	G	G	A	rs142987399		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:100328234G>A	ENST00000259365.4	+	7	936	c.723G>A	c.(721-723)gcG>gcA	p.A241A	TMOD1_ENST00000375175.1_Silent_p.A114A|TMOD1_ENST00000395211.2_Silent_p.A241A	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	241					adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		ACCCCGTGGCGTATGTATGTA	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21167	0.0		0.0	False		,,,				2504	0.0					ENST00000395211.2																			0				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11						c.(721-723)gcG>gcA		tropomodulin 1		G	,	3,4403	6.2+/-15.9	0,3,2200	187.0	192.0	191.0		723,723	-10.1	0.0	9	dbSNP_134	191	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TMOD1	NM_001166116.1,NM_003275.3	,	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	,	241/360,241/360	100328234	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	7111				muscle filament sliding	cytosol	actin binding	g.chr9:100328234G>A		CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.723G>A	9.37:g.100328234G>A						TMOD1_ENST00000375175.1_Silent_p.A114A|TMOD1_ENST00000259365.3_Silent_p.A241A	p.A241A	NM_001166116.1	NP_001159588.1	P28289	TMOD1_HUMAN		STAD - Stomach adenocarcinoma(157;0.105)	7	859	+		Acute lymphoblastic leukemia(62;0.154)	241					B2RB77|Q5T7W3|Q9BUF1	Silent	SNP	ENST00000259365.4	37	c.723G>A	CCDS6726.1																																																																																				0.493	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053320.2	NM_003275		59	300	0	0	0	1	0	59	300				
FLT4	2324	broad.mit.edu	37	5	180056837	180056837	+	Splice_Site	SNP	T	T	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:180056837T>A	ENST00000261937.6	-	6	755		c.e6-2		FLT4_ENST00000502649.1_Splice_Site|FLT4_ENST00000424276.2_Splice_Site|FLT4_ENST00000393347.3_Splice_Site	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4						blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTCGTTGCCTGTTGACACGC	0.607																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.e6-2		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						80.0	70.0	74.0					5																	180056837		2200	4296	6496	SO:0001630	splice_region_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180056837T>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.677-2A>T	5.37:g.180056837T>A						FLT4_ENST00000502649.1_Splice_Site|FLT4_ENST00000424276.2_Splice_Site|FLT4_ENST00000393347.3_Splice_Site		NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	6	755	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)						A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Splice_Site	SNP	ENST00000261937.6	37		CCDS4457.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.422002	0.62622	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8506	0.70295	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLT4	179989443	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.474000	0.81024	1.976000	0.57569	0.459000	0.35465	.		0.607	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4		Intron	70	93	0	0	0	1	0	70	93				
TRMT61A	115708	broad.mit.edu	37	14	103996579	103996579	+	Silent	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:103996579C>T	ENST00000389749.4	+	2	371	c.264C>T	c.(262-264)taC>taT	p.Y88Y	RP11-600F24.7_ENST00000568177.1_RNA	NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	88						nucleus (GO:0005634)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			skin(1)	1						AGATCCTCTACTCCACAGACA	0.622																																						ENST00000389749.4																			0				skin(1)	1						c.(262-264)taC>taT		tRNA methyltransferase 61 homolog A (S. cerevisiae)							87.0	95.0	92.0					14																	103996579		2186	4280	6466	SO:0001819	synonymous_variant	115708					nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity	g.chr14:103996579C>T	AK097771	CCDS41994.1	14q32	2009-01-09	2009-01-09	2009-01-09		ENSG00000166166			23790	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 172"""	C14orf172		16043508	Standard	NM_152307		Approved	FLJ40452, GCD14, Gcd14p, hTRM61	uc010aws.3	Q96FX7		ENST00000389749.4:c.264C>T	14.37:g.103996579C>T							p.Y88Y	NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN			2	371	+			88					A6NN78|Q8N7Q9	Silent	SNP	ENST00000389749.4	37	c.264C>T	CCDS41994.1																																																																																				0.622	TRMT61A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414988.1	NM_152307		91	444	0	0	0	1	0	91	444				
KMT2A	4297	broad.mit.edu	37	11	118375783	118375783	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:118375783C>T	ENST00000389506.5	+	27	9167	c.9167C>T	c.(9166-9168)cCg>cTg	p.P3056L	KMT2A_ENST00000354520.4_Missense_Mutation_p.P3018L|KMT2A_ENST00000534358.1_Missense_Mutation_p.P3059L			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3056					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AGTCCTGGCCCGTCTCAGATT	0.507																																						ENST00000534358.1																			0											c.(9175-9177)cCg>cTg		lysine (K)-specific methyltransferase 2A							111.0	104.0	106.0					11																	118375783		2200	4295	6495	SO:0001583	missense	4297							g.chr11:118375783C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9167C>T	11.37:g.118375783C>T	ENSP00000374157:p.Pro3056Leu					KMT2A_ENST00000389506.5_Missense_Mutation_p.P3056L|KMT2A_ENST00000354520.4_Missense_Mutation_p.P3018L	p.P3059L	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	9199	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.9176C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862681	0.32884	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.85013	-1.93;-1.93;-1.88	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.87834	0.6277	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.53006	0.715;0.715	D	0.86967	0.2095	10	0.51188	T	0.08	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	3059;3056	E9PQG7;Q03164	.;MLL1_HUMAN	L	3059;3056;3018;1966	ENSP00000436786:P3059L;ENSP00000374157:P3056L;ENSP00000346516:P3018L	ENSP00000346516:P3018L	P	+	2	0	MLL	117880993	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	CCG		0.507	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		30	753	0	0	0	1	0	30	753				
LSS	4047	broad.mit.edu	37	21	47614458	47614458	+	Silent	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr21:47614458G>T	ENST00000397728.3	-	20	2013	c.1935C>A	c.(1933-1935)gcC>gcA	p.A645A	LSS_ENST00000356396.4_Silent_p.A645A|LSS_ENST00000457828.2_Silent_p.A565A|LSS_ENST00000522411.1_Silent_p.A634A|AP001468.1_ENST00000594486.1_5'Flank	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	645					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TCTGGGACTGGGCACTCTGCA	0.632																																					Pancreas(114;955 2313 34923 50507)	ENST00000397728.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21						c.(1933-1935)gcC>gcA		lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)							104.0	82.0	90.0					21																	47614458		2203	4300	6503	SO:0001819	synonymous_variant	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47614458G>T	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1935C>A	21.37:g.47614458G>T						LSS_ENST00000522411.1_Silent_p.A634A|LSS_ENST00000356396.4_Silent_p.A645A|LSS_ENST00000457828.2_Silent_p.A565A	p.A645A	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN			20	2013	-	Breast(49;0.214)		645					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Silent	SNP	ENST00000397728.3	37	c.1935C>A	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	G	0.732	-0.779646	0.02929	.	.	ENSG00000160285	ENST00000419093	.	.	.	5.07	1.18	0.20946	.	.	.	.	.	T	0.26484	0.0647	.	.	.	0.22873	N	0.998627	.	.	.	.	.	.	T	0.24584	-1.0156	4	.	.	.	.	5.5508	0.17089	0.282:0.0:0.5927:0.1253	.	.	.	.	T	13	.	.	P	-	1	0	LSS	46438886	0.003000	0.15002	0.004000	0.12327	0.120000	0.20174	0.464000	0.21988	0.009000	0.14813	-0.727000	0.03589	CCA		0.632	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			41	147	1	0	4.92203e-23	1	5.31266e-23	41	147				
MT-ND5	4540	broad.mit.edu	37	M	12705	12705	+	Silent	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:12705C>T	ENST00000361567.2	+	1	369	c.369C>T	c.(367-369)atC>atT	p.I123I	MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TR_ENST00000387439.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	123					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TATCTACTCATTTTCCTAATT	0.373																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(367-369)atC>atT		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001819	synonymous_variant	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:12705C>T			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.369C>T	M.37:g.12705C>T							p.I123I			P03915	NU5M_HUMAN			1	369	+			123					Q34773|Q8WCY3	Silent	SNP	ENST00000361567.2	37	c.369C>T																																																																																					0.373	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		5	33	0	0	0	1	0	5	33				
AGTR2	186	broad.mit.edu	37	X	115303595	115303595	+	Missense_Mutation	SNP	G	G	T	rs121917810	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:115303595G>T	ENST00000371906.4	+	3	252	c.62G>T	c.(61-63)gGg>gTg	p.G21V		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	21			G -> V (rare variant found in patients with X-linked mental retardation; unknown pathological significance; dbSNP:rs121917810). {ECO:0000269|PubMed:12089445}.		aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	CTTCACTTCGGGCTTGTGAAC	0.413													G|||	3	0.000794702	0.0	0.0	3775	,	,		13495	0.0		0.002	False		,,,				2504	0.001					ENST00000371906.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24	GRCh37	CM021241	AGTR2	M	rs121917810	c.(61-63)gGg>gTg		angiotensin II receptor, type 2		G	VAL/GLY	2,3833		0,2,0,1630,571	97.0	84.0	88.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	62	3.6	0.0	X	dbSNP_133	88	31,6697		0,21,10,2407,1862	yes	missense	AGTR2	NM_000686.4	109	0,23,10,4037,2433	TT,TG,T,GG,G		0.4608,0.0522,0.3124	benign	21/364	115303595	33,10530	2203	4300	6503	SO:0001583	missense	186				behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	g.chrX:115303595G>T	AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.62G>T	X.37:g.115303595G>T	ENSP00000360973:p.Gly21Val						p.G21V	NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN			3	252	+			21					B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	ENST00000371906.4	37	c.62G>T	CCDS14569.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	0.023	-1.397364	0.01175	5.22E-4	0.004608	ENSG00000180772	ENST00000371906	T	0.69561	-0.41	3.6	3.6	0.41247	.	0.816960	0.10552	N	0.661402	T	0.45836	0.1362	N	0.08118	0	0.18873	A	1.31539e-05	B	0.02656	0.0	B	0.01281	0.0	T	0.50004	-0.8878	9	0.36615	T	0.2	-0.1329	9.8249	0.40905	0.0:0.0:1.0:0.0	.	21	P50052	AGTR2_HUMAN	V	21	ENSP00000360973:G21V	ENSP00000360973:G21V	G	+	2	0	AGTR2	115217623	0.000000	0.05858	0.011000	0.14972	0.032000	0.12392	0.242000	0.18087	1.661000	0.50771	0.506000	0.49869	GGG		0.413	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057984.1	NM_000686		34	228	1	0	2.42023e-17	1	2.5715e-17	34	228				
DMAP1	55929	broad.mit.edu	37	1	44680376	44680376	+	Splice_Site	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:44680376G>C	ENST00000372289.2	+	3	462	c.199G>C	c.(199-201)Gat>Cat	p.D67H	DMAP1_ENST00000315913.5_Splice_Site_p.D67H|DMAP1_ENST00000361745.6_Splice_Site_p.D67H	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	67					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					CCCTGCCAGGGATGCACCCCC	0.537																																						ENST00000372289.2																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.e3-1		DNA methyltransferase 1 associated protein 1							90.0	83.0	85.0					1																	44680376		2203	4300	6503	SO:0001630	splice_region_variant	55929				DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding	g.chr1:44680376G>C	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.198-1G>C	1.37:g.44680376G>C						DMAP1_ENST00000315913.5_Splice_Site_p.D67_splice|DMAP1_ENST00000361745.6_Splice_Site_p.D67_splice	p.D67_splice	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN			3	462	+	Acute lymphoblastic leukemia(166;0.155)		67					A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Splice_Site	SNP	ENST00000372289.2	37	c.197_splice	CCDS509.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008721	0.93346	.	.	ENSG00000178028	ENST00000361745;ENST00000446292;ENST00000372283;ENST00000440641;ENST00000436069;ENST00000437511;ENST00000315913;ENST00000372289;ENST00000372290	T;T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.80764	0.99;0.993;0.994;0.991;0.991;0.99	T	0.63756	-0.6565	10	0.66056	D	0.02	-13.9902	19.3227	0.94248	0.0:0.0:1.0:0.0	.	67;67;67;67;93;67	B4DQG8;B4DEF2;B4DTH3;B4DTU6;B4DU03;Q9NPF5	.;.;.;.;.;DMAP1_HUMAN	H	67;67;93;67;93;93;67;67;38	ENSP00000354697:D67H;ENSP00000409200:D67H;ENSP00000401099:D67H;ENSP00000400269:D93H;ENSP00000402494:D93H;ENSP00000312697:D67H;ENSP00000361363:D67H;ENSP00000361364:D38H	ENSP00000312697:D67H	D	+	1	0	DMAP1	44452963	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.557000	0.86248	0.655000	0.94253	GAT		0.537	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100	Missense_Mutation	58	390	0	0	0	1	0	58	390				
TAPT1-AS1	202020	broad.mit.edu	37	4	16258050	16258050	+	RNA	SNP	C	C	T	rs203448	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:16258050C>T	ENST00000570786.1	+	0	405				TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA	NR_027696.1				TAPT1 antisense RNA 1 (head to head)																		TAAACCTGCCCGTGACCTTGT	0.542																																						ENST00000570786.1																			0																																																			0							g.chr4:16258050C>T			4p15.32	2012-11-06	2012-11-06		ENSG00000263327	ENSG00000263327		"""Long non-coding RNAs"""	26832	non-coding RNA	RNA, long non-coding							Standard	NR_027696		Approved	FLJ39653			OTTHUMG00000160321		4.37:g.16258050C>T						TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA		NR_027696.1						0	405	+									RNA	SNP	ENST00000570786.1	37																																																																																						0.542	TAPT1-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000439459.1	NR_027696		13	216	0	0	0	1	0	13	216				
TNRC18	84629	broad.mit.edu	37	7	5427483	5427483	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr7:5427483G>T	ENST00000430969.1	-	5	2320	c.1972C>A	c.(1972-1974)Ccc>Acc	p.P658T	TNRC18_ENST00000399537.4_Missense_Mutation_p.P658T	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	658							chromatin binding (GO:0003682)	p.P658T(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCGCTCTCGGGCCTCTCGGGG	0.736																																						ENST00000399537.4																			2	Substitution - Missense(2)	p.P658T(2)	kidney(2)	central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(1972-1974)Ccc>Acc		trinucleotide repeat containing 18																																				SO:0001583	missense	84629						DNA binding	g.chr7:5427483G>T	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.1972C>A	7.37:g.5427483G>T	ENSP00000395538:p.Pro658Thr					TNRC18_ENST00000430969.1_Missense_Mutation_p.P658T	p.P658T			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	5	2320	-		Ovarian(82;0.142)	658					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.1972C>A	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	g	12.22	1.872216	0.33069	.	.	ENSG00000182095	ENST00000399537;ENST00000430969;ENST00000413081	T;T	0.16324	2.36;2.35	4.47	4.47	0.54385	.	.	.	.	.	T	0.35098	0.0920	M	0.68593	2.085	0.41549	D	0.98856	D	0.69078	0.997	D	0.64042	0.921	T	0.12811	-1.0533	9	0.72032	D	0.01	.	10.7888	0.46422	0.0878:0.0:0.9122:0.0	.	658	O15417	TNC18_HUMAN	T	658;658;60	ENSP00000382452:P658T;ENSP00000395538:P658T	ENSP00000382452:P658T	P	-	1	0	TNRC18	5394009	1.000000	0.71417	0.998000	0.56505	0.840000	0.47671	7.289000	0.78701	2.016000	0.59253	0.556000	0.70494	CCC		0.736	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				13	95	1	0	1.61879e-10	1	1.68058e-10	13	95				
KLHL11	55175	broad.mit.edu	37	17	40010103	40010103	+	Silent	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:40010103G>A	ENST00000319121.3	-	2	2076	c.2016C>T	c.(2014-2016)taC>taT	p.Y672Y	RP11-156E6.1_ENST00000560400.1_RNA	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	672										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GAGGCATAGGGTATCTCTGTG	0.527																																						ENST00000319121.3																			0				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(2014-2016)taC>taT		kelch-like family member 11							225.0	199.0	208.0					17																	40010103		2203	4300	6503	SO:0001819	synonymous_variant	55175					extracellular region		g.chr17:40010103G>A		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.2016C>T	17.37:g.40010103G>A							p.Y672Y	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN			2	2076	-		Breast(137;0.00156)	672						Silent	SNP	ENST00000319121.3	37	c.2016C>T	CCDS11411.1																																																																																				0.527	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		97	574	0	0	0	1	0	97	574				
EDAR	10913	broad.mit.edu	37	2	109524464	109524464	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:109524464G>A	ENST00000258443.2	-	10	1245	c.815C>T	c.(814-816)gCc>gTc	p.A272V	EDAR_ENST00000409271.1_Missense_Mutation_p.A304V|EDAR_ENST00000376651.1_Missense_Mutation_p.A304V	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	272					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTCGGATGAGGCATCGTTCTC	0.607																																						ENST00000409271.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(910-912)gCc>gTc		ectodysplasin A receptor							30.0	30.0	30.0					2																	109524464		2203	4300	6503	SO:0001583	missense	10913				apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity	g.chr2:109524464G>A	AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.815C>T	2.37:g.109524464G>A	ENSP00000258443:p.Ala272Val					EDAR_ENST00000376651.1_Missense_Mutation_p.A304V|EDAR_ENST00000258443.2_Missense_Mutation_p.A272V	p.A304V			Q9UNE0	EDAR_HUMAN			10	1354	-			272					B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	ENST00000258443.2	37	c.911C>T	CCDS2081.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077967	0.76528	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.94828	-3.53;-3.32;-3.53	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.97179	0.9078	M	0.74258	2.255	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.80764	0.994;0.985	D	0.97373	0.9977	10	0.72032	D	0.01	-31.1079	19.7084	0.96083	0.0:0.0:1.0:0.0	.	304;272	E9PC98;Q9UNE0	.;EDAR_HUMAN	V	304;272;304	ENSP00000386371:A304V;ENSP00000258443:A272V;ENSP00000365839:A304V	ENSP00000258443:A272V	A	-	2	0	EDAR	108890896	1.000000	0.71417	0.938000	0.37757	0.188000	0.23474	9.110000	0.94302	2.648000	0.89879	0.561000	0.74099	GCC		0.607	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253595.1			25	173	0	0	0	1	0	25	173				
RNF38	152006	broad.mit.edu	37	9	36390574	36390574	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:36390574G>C	ENST00000259605.6	-	2	159	c.52C>G	c.(52-54)Cct>Gct	p.P18A	RNF38_ENST00000357058.3_De_novo_Start_OutOfFrame|RNF38_ENST00000353739.4_Intron|RNF38_ENST00000377877.4_Intron|RNF38_ENST00000350199.4_Intron|RNF38_ENST00000377885.2_De_novo_Start_OutOfFrame|RNF38_ENST00000491349.1_5'UTR	NM_022781.4	NP_073618.3	Q9H0F5	RNF38_HUMAN	ring finger protein 38	18					male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)|sperm flagellum (GO:0036126)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			ACCTTGTTAGGATGGCCAGGT	0.488																																						ENST00000357058.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11								ring finger protein 38							122.0	120.0	120.0					9																	36390574		2203	4300	6503	SO:0001583	missense	152006						zinc ion binding	g.chr9:36390574G>C		CCDS6603.1, CCDS6604.1	9p	2013-01-09			ENSG00000137075	ENSG00000137075		"""RING-type (C3HC4) zinc fingers"""	18052	protein-coding gene	gene with protein product		612488					Standard	XM_005251364		Approved		uc003zzh.3	Q9H0F5	OTTHUMG00000019905	ENST00000259605.6:c.52C>G	9.37:g.36390574G>C	ENSP00000259605:p.Pro18Ala					RNF38_ENST00000491349.1_5'UTR|RNF38_ENST00000377885.2_De_novo_Start_OutOfFrame|RNF38_ENST00000377877.4_Intron|RNF38_ENST00000259605.6_Missense_Mutation_p.P18A|RNF38_ENST00000353739.4_Intron|RNF38_ENST00000350199.4_Intron		NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		0	409	-								A6PVP9|B1AM81|B1AM82|B3KSG4|E7EVL3|Q7LB33|Q8N0Y0|Q9H748	Translation_Start_Site	SNP	ENST00000259605.6	37		CCDS6603.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931570	0.52866	.	.	ENSG00000137075	ENST00000259605	T	0.13196	2.61	5.73	4.81	0.61882	.	0.311822	0.27258	N	0.020186	T	0.08268	0.0206	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14172	-1.0482	10	0.56958	D	0.05	-3.2253	12.6286	0.56644	0.0:0.1663:0.8337:0.0	.	18	Q9H0F5	RNF38_HUMAN	A	18	ENSP00000259605:P18A	ENSP00000259605:P18A	P	-	1	0	RNF38	36380574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.956000	0.49129	1.371000	0.46172	0.655000	0.94253	CCT		0.488	RNF38-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052422.3	NM_022781		74	488	0	0	0	1	0	74	488				
FOXI3	344167	broad.mit.edu	37	2	88751603	88751603	+	RNA	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:88751603G>A	ENST00000398142.3	-	0	528							A8MTJ6	FOXI3_HUMAN	forkhead box I3						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)	2						GATGAGCGCCGAATACGAGTA	0.682																																					Pancreas(81;472 1448 16397 17495 22123)	ENST00000398142.3																			0				NS(1)|endometrium(1)	2								forkhead box I3							21.0	25.0	24.0					2																	88751603		692	1591	2283			344167				epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:88751603G>A	BN001221, BN001222		2p11.2	2008-12-18				ENSG00000214336			35123	protein-coding gene	gene with protein product		612351				18787161	Standard	NM_001135649		Approved		uc010ytq.1	A8MTJ6			2.37:g.88751603G>A										A8MTJ6	FOXI3_HUMAN			0	528	-								B5RI09	RNA	SNP	ENST00000398142.3	37																																																																																						0.682	FOXI3-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000338241.2	NM_001135649		13	33	0	0	0	1	0	13	33				
CCDC6	8030	broad.mit.edu	37	10	61552865	61552865	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr10:61552865G>A	ENST00000263102.6	-	9	1466	c.1235C>T	c.(1234-1236)cCt>cTt	p.P412L		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	412						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CCGTGGTGAAGGCCTCTGCAG	0.562			T	RET	NSCLC																																	ENST00000263102.6				Dom	yes		10	10q21	8030	T	coiled-coil domain containing 6			E	RET		NSCLC	CCDC6/RET(4)	0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18						c.(1234-1236)cCt>cTt		coiled-coil domain containing 6							114.0	110.0	111.0					10																	61552865		2203	4300	6503	SO:0001583	missense	8030					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	g.chr10:61552865G>A	S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.1235C>T	10.37:g.61552865G>A	ENSP00000263102:p.Pro412Leu						p.P412L	NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN		Kidney(211;0.0597)	9	1466	-			412					Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	c.1235C>T	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166263	0.57476	.	.	ENSG00000108091	ENST00000263102	T	0.52754	0.65	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.66376	0.2783	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.67803	-0.5576	10	0.72032	D	0.01	-10.9482	19.4045	0.94643	0.0:0.0:1.0:0.0	.	412	Q16204	CCDC6_HUMAN	L	412	ENSP00000263102:P412L	ENSP00000263102:P412L	P	-	2	0	CCDC6	61222871	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.637000	0.89404	0.563000	0.77884	CCT		0.562	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436		21	134	0	0	0	1	0	21	134				
ADPGK	83440	broad.mit.edu	37	15	73045100	73045100	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr15:73045100A>G	ENST00000311669.8	-	7	1166	c.1073T>C	c.(1072-1074)cTc>cCc	p.L358P	ADPGK_ENST00000456471.2_Missense_Mutation_p.L84P|ADPGK_ENST00000567733.1_5'Flank	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	359	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						GATCCAGAAGAGGATGTCACT	0.517																																						ENST00000311669.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						c.(1072-1074)cTc>cCc		ADP-dependent glucokinase							92.0	90.0	91.0					15																	73045100		2005	4174	6179	SO:0001583	missense	83440				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding	g.chr15:73045100A>G	AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.1073T>C	15.37:g.73045100A>G	ENSP00000312250:p.Leu358Pro					ADPGK_ENST00000456471.2_Missense_Mutation_p.L84P	p.L358P	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN			7	1166	-			359			ADPK.		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Missense_Mutation	SNP	ENST00000311669.8	37	c.1073T>C	CCDS42057.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.738815	0.89573	.	.	ENSG00000159322	ENST00000311669;ENST00000443764;ENST00000456471;ENST00000331065	T;T	0.52057	0.68;0.68	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.70640	0.3247	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.996;0.996	T	0.74359	-0.3691	10	0.87932	D	0	-27.9599	16.5446	0.84426	1.0:0.0:0.0:0.0	.	301;359;358;84	B4DG35;Q9BRR6;Q9BRR6-2;Q9BRR6-4	.;ADPGK_HUMAN;.;.	P	358;278;84;237	ENSP00000312250:L358P;ENSP00000397694:L84P	ENSP00000312250:L358P	L	-	2	0	ADPGK	70832153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.228000	0.95250	2.311000	0.77944	0.533000	0.62120	CTC		0.517	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	NM_031284		84	390	0	0	0	1	0	84	390				
PITRM1	10531	broad.mit.edu	37	10	3185639	3185639	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr10:3185639C>A	ENST00000224949.4	-	23	2621	c.2587G>T	c.(2587-2589)Gtg>Ttg	p.V863L	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380989.2_Missense_Mutation_p.V864L|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.V421L|PITRM1_ENST00000451104.2_Missense_Mutation_p.V765L			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	863					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ACGTAATTCACCGGGAAGGGC	0.592																																						ENST00000380989.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						c.(2590-2592)Gtg>Ttg		pitrilysin metallopeptidase 1							111.0	117.0	115.0					10																	3185639		2060	4199	6259	SO:0001583	missense	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3185639C>A	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2587G>T	10.37:g.3185639C>A	ENSP00000224949:p.Val863Leu					PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.V421L|PITRM1_ENST00000224949.4_Missense_Mutation_p.V863L|PITRM1_ENST00000451104.2_Missense_Mutation_p.V765L|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000464395.1_5'UTR|PITRM1-AS1_ENST00000441377.1_RNA	p.V864L	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN			23	2628	-			765					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	c.2590G>T	CCDS59208.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	19.85|19.85	3.903997|3.903997	0.72754|0.72754	.|.	.|.	ENSG00000107959|ENSG00000107959	ENST00000451454|ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104;ENST00000455371	.|T;T;T;T;T	.|0.42900	.|0.96;0.96;0.96;0.96;0.96	5.11|5.11	5.11|5.11	0.69529|0.69529	.|Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72045|0.72045	0.3412|0.3412	M|M	0.89785|0.89785	3.06|3.06	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.998;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.79784	.|0.927;0.991;0.993;0.993;0.993	T|T	0.79347|0.79347	-0.1841|-0.1841	5|10	.|0.87932	.|D	.|0	-29.6242|-29.6242	18.5462|18.5462	0.91047|0.91047	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|856;765;864;863;856	.|E9PDX6;E7ES23;C9JSL2;Q5JRX3;B4DH07	.|.;.;.;PREP_HUMAN;.	V|L	196|863;856;864;421;765;44	.|ENSP00000224949:V863L;ENSP00000370377:V864L;ENSP00000370382:V421L;ENSP00000401201:V765L;ENSP00000399307:V44L	.|ENSP00000224949:V863L	G|V	-|-	2|1	0|0	PITRM1|PITRM1	3175639|3175639	1.000000|1.000000	0.71417|0.71417	0.211000|0.211000	0.23655|0.23655	0.121000|0.121000	0.20230|0.20230	7.541000|7.541000	0.82084|0.82084	2.373000|2.373000	0.80994|0.80994	0.561000|0.561000	0.74099|0.74099	GGT|GTG		0.592	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			18	272	1	0	0.000566183	1	0.000570377	18	272				
MT-CO1	4512	broad.mit.edu	37	M	6776	6776	+	Silent	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:6776T>C	ENST00000361624.2	+	1	873	c.873T>C	c.(871-873)caT>caC	p.H291H	MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	291					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TGAGCACACCATATATTTACA	0.423																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(871-873)caT>caC		mitochondrially encoded cytochrome c oxidase I																																				SO:0001819	synonymous_variant	4512							g.chrM:6776T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.873T>C	M.37:g.6776T>C							p.291_291insH							1	873	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.873T>C																																																																																					0.423	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		8	60	0	0	0	1	0	8	60				
MT-CYB	4519	broad.mit.edu	37	M	15452	15452	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:15452C>A	ENST00000361789.2	+	1	706	c.706C>A	c.(706-708)Ctt>Att	p.L236I	MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TP_ENST00000387461.2_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	236			L -> I (in dbSNP:rs3088309). {ECO:0000269|PubMed:10453733, ECO:0000269|PubMed:11130070, ECO:0000269|PubMed:11553319}.		cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						TACTTCTCTTCCTTCTCTCCT	0.478											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000361789.2																			0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(706-708)Ctt>Att		mitochondrially encoded cytochrome b																																				SO:0001583	missense	4519							g.chrM:15452C>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.706C>A	M.37:g.15452C>A	ENSP00000354554:p.Leu236Ile		OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	585		p.236_236insI							1	706	+								Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.706C>A																																																																																					0.478	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038		9	50	1	0	5.68852e-11	1	5.92827e-11	9	50				
SPG7	6687	broad.mit.edu	37	16	89611106	89611106	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr16:89611106G>A	ENST00000268704.2	+	10	1390	c.1375G>A	c.(1375-1377)Gac>Aac	p.D459N		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	459					anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GAACCGAGCTGACATTTTGGA	0.602																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1375-1377)Gac>Aac		spastic paraplegia 7 (pure and complicated autosomal recessive)							163.0	129.0	141.0					16																	89611106		2198	4300	6498	SO:0001583	missense	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89611106G>A	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1375G>A	16.37:g.89611106G>A	ENSP00000268704:p.Asp459Asn						p.D459N	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	10	1390	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	459					O75756|Q2TB70|Q58F00|Q96IB0	Missense_Mutation	SNP	ENST00000268704.2	37	c.1375G>A	CCDS10977.1	.	.	.	.	.	.	.	.	.	.	G	35	5.546089	0.96488	.	.	ENSG00000197912	ENST00000268704	D	0.95307	-3.67	5.0	5.0	0.66597	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.96812	0.8959	M	0.69358	2.11	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.97468	1.0039	10	0.87932	D	0	-0.9236	18.2856	0.90113	0.0:0.0:1.0:0.0	.	459	Q9UQ90	SPG7_HUMAN	N	459	ENSP00000268704:D459N	ENSP00000268704:D459N	D	+	1	0	SPG7	88138607	1.000000	0.71417	0.980000	0.43619	0.902000	0.53008	9.610000	0.98337	2.342000	0.79632	0.462000	0.41574	GAC		0.602	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		68	428	0	0	0	1	0	68	428				
PRR22	163154	broad.mit.edu	37	19	5783339	5783339	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:5783339A>T	ENST00000419421.2	-	3	1023	c.919T>A	c.(919-921)Tgc>Agc	p.C307S		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	307										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						GGGACCTCGCACAGGGTACCC	0.642																																						ENST00000419421.2																			0				endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						c.(919-921)Tgc>Agc		proline rich 22							35.0	39.0	38.0					19																	5783339		2199	4293	6492	SO:0001583	missense	163154							g.chr19:5783339A>T	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.919T>A	19.37:g.5783339A>T	ENSP00000407653:p.Cys307Ser						p.C307S	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN			3	1023	-			305					E9PB31	Missense_Mutation	SNP	ENST00000419421.2	37	c.919T>A	CCDS45933.1	.	.	.	.	.	.	.	.	.	.	A	7.405	0.633633	0.14322	.	.	ENSG00000212123	ENST00000419421	T	0.41400	1.0	3.52	-2.21	0.06973	.	.	.	.	.	T	0.17365	0.0417	N	0.14661	0.345	0.09310	N	1	B;B	0.21452	0.056;0.056	B;B	0.18263	0.021;0.021	T	0.28522	-1.0041	9	0.07482	T	0.82	.	3.7653	0.08620	0.3513:0.185:0.4637:0.0	.	307;305	E9PB31;Q8IZ63	.;PRR22_HUMAN	S	307	ENSP00000407653:C307S	ENSP00000407653:C307S	C	-	1	0	PRR22	5734339	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.854000	0.01664	-0.314000	0.08716	-0.736000	0.03550	TGC		0.642	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	NM_153359		39	290	0	0	0	1	0	39	290				
MCM3	4172	broad.mit.edu	37	6	52146932	52146932	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:52146932A>G	ENST00000229854.7	-	4	518	c.442T>C	c.(442-444)Tgt>Cgt	p.C148R	MCM3_ENST00000476448.1_5'Flank|MCM3_ENST00000596288.1_Missense_Mutation_p.C193R|MCM3_ENST00000419835.2_Missense_Mutation_p.C102R			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	148					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GTAGCAGGACAGTAGTGGACA	0.488																																						ENST00000596288.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(577-579)Tgt>Cgt		minichromosome maintenance complex component 3							162.0	142.0	149.0					6																	52146932		2203	4300	6503	SO:0001583	missense	4172				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr6:52146932A>G	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.442T>C	6.37:g.52146932A>G	ENSP00000229854:p.Cys148Arg					MCM3_ENST00000229854.7_Missense_Mutation_p.C148R|MCM3_ENST00000419835.2_Missense_Mutation_p.C102R	p.C193R	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN			4	604	-	Lung NSC(77;0.0931)		148					B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37	c.577T>C		.	.	.	.	.	.	.	.	.	.	A	19.72	3.879725	0.72294	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.20200	2.09;2.09	5.69	5.69	0.88448	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.985;1.0	T	0.67902	-0.5550	10	0.87932	D	0	-9.9587	15.9495	0.79823	1.0:0.0:0.0:0.0	.	102;148	B4DUQ9;P25205	.;MCM3_HUMAN	R	148;102	ENSP00000229854:C148R;ENSP00000388647:C102R	ENSP00000229854:C148R	C	-	1	0	MCM3	52254891	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	9.242000	0.95408	2.173000	0.68751	0.460000	0.39030	TGT		0.488	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470784.1			69	465	0	0	0	1	0	69	465				
TUBB8P7	197331	broad.mit.edu	37	16	90162368	90162368	+	RNA	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr16:90162368T>C	ENST00000564451.1	+	0	1721				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		GCCACCTTCATTGGGAATAAT	0.512																																						ENST00000567960.1																			0																																																			0							g.chr16:90162368T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162368T>C						TUBB8P7_ENST00000564451.1_RNA								0	1104	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.512	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		79	435	0	0	0	1	0	79	435				
MROH6	642475	broad.mit.edu	37	8	144650380	144650380	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:144650380G>T	ENST00000398882.3	-	11	1952	c.1696C>A	c.(1696-1698)Ctg>Atg	p.L566M	MROH6_ENST00000533679.1_Intron|MROH6_ENST00000532704.1_5'Flank|MROH6_ENST00000524906.1_De_novo_Start_InFrame|MROH6_ENST00000534459.1_De_novo_Start_InFrame	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	566																	AACTCCTCCAGCAGGCCCCAG	0.652																																						ENST00000398882.3																			0											c.(1696-1698)Ctg>Atg		maestro heat-like repeat family member 6							25.0	28.0	27.0					8																	144650380		1952	4143	6095	SO:0001583	missense	642475							g.chr8:144650380G>T	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1696C>A	8.37:g.144650380G>T	ENSP00000381857:p.Leu566Met					MROH6_ENST00000524906.1_De_novo_Start_InFrame|MROH6_ENST00000533679.1_Intron|MROH6_ENST00000534459.1_De_novo_Start_InFrame	p.L566M	NM_001100878.1	NP_001094348.1					11	1952	-								A8MWB1	Missense_Mutation	SNP	ENST00000398882.3	37	c.1696C>A	CCDS47928.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344607	0.41498	.	.	ENSG00000204839	ENST00000398882	T	0.52295	0.67	4.82	3.73	0.42828	Armadillo-type fold (1);	.	.	.	.	T	0.56645	0.1999	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.53092	-0.8487	9	0.30854	T	0.27	-35.1542	6.1398	0.20253	0.1112:0.0:0.699:0.1898	.	566	A6NGR9	CH073_HUMAN	M	566	ENSP00000381857:L566M	ENSP00000381857:L566M	L	-	1	2	C8orf73	144721523	0.987000	0.35691	1.000000	0.80357	0.480000	0.33159	1.228000	0.32588	2.232000	0.73038	0.448000	0.29417	CTG		0.652	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878		16	95	1	0	1.00905e-13	1	1.05562e-13	16	95				
ABCB1	5243	broad.mit.edu	37	7	87178760	87178760	+	Silent	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr7:87178760A>G	ENST00000265724.3	-	15	2046	c.1629T>C	c.(1627-1629)cgT>cgC	p.R543R	ABCB1_ENST00000543898.1_Silent_p.R479R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	543	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	GAACCAGGGCACGTGCAATGG	0.547																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(1627-1629)cgT>cgC		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						134.0	113.0	121.0					7																	87178760		2203	4300	6503	SO:0001819	synonymous_variant	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87178760A>G	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1629T>C	7.37:g.87178760A>G						ABCB1_ENST00000543898.1_Silent_p.R479R	p.R543R	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			15	2046	-	Esophageal squamous(14;0.00164)		543			ABC transporter 1.		A8K294|B5AK60|Q12755|Q14812	Silent	SNP	ENST00000265724.3	37	c.1629T>C	CCDS5608.1																																																																																				0.547	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		76	392	0	0	0	1	0	76	392				
TMEM91	641649	broad.mit.edu	37	19	41884321	41884321	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:41884321G>C	ENST00000392002.2	+	2	767	c.107G>C	c.(106-108)aGa>aCa	p.R36T	BCKDHA_ENST00000595085.1_Missense_Mutation_p.R36T|TMEM91_ENST00000447302.2_Missense_Mutation_p.R36T|TMEM91_ENST00000542945.1_Missense_Mutation_p.R36T|TMEM91_ENST00000436170.2_Missense_Mutation_p.R36T|TMEM91_ENST00000413014.2_Missense_Mutation_p.R36T|TMEM91_ENST00000356385.4_Missense_Mutation_p.R36T|TMEM91_ENST00000604123.1_Missense_Mutation_p.R93T|TMEM91_ENST00000544232.1_Missense_Mutation_p.R36T|TMEM91_ENST00000539627.1_Missense_Mutation_p.R36T|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.R36T|CTC-435M10.3_ENST00000604424.1_Intron	NM_001098821.1	NP_001092291.1	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91	36					hematopoietic progenitor cell differentiation (GO:0002244)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						TCCCCCTTAAGAGAGATAGCC	0.612																																						ENST00000540732.1																			0											c.(106-108)aGa>aCa									75.0	76.0	76.0					19																	41884321		1886	4128	6014	SO:0001583	missense	0							g.chr19:41884321G>C	AK130820, BC063705	CCDS42571.1, CCDS42572.1, CCDS46082.1, CCDS46083.1, CCDS46084.1	19q13.2	2009-10-16							32393	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 6"""					12477932	Standard	NM_001098824		Approved	FLJ27310, IFITMD6		Q6ZNR0		ENST00000392002.2:c.107G>C	19.37:g.41884321G>C	ENSP00000375859:p.Arg36Thr					TMEM91_ENST00000604123.1_Missense_Mutation_p.R93T|TMEM91_ENST00000539627.1_Missense_Mutation_p.R36T|TMEM91_ENST00000544232.1_Missense_Mutation_p.R36T|TMEM91_ENST00000447302.2_Missense_Mutation_p.R36T|TMEM91_ENST00000542945.1_Missense_Mutation_p.R36T|TMEM91_ENST00000413014.2_Missense_Mutation_p.R36T|TMEM91_ENST00000356385.4_Missense_Mutation_p.R36T|BCKDHA_ENST00000595085.1_Missense_Mutation_p.R36T|TMEM91_ENST00000392002.2_Missense_Mutation_p.R36T|TMEM91_ENST00000436170.2_Missense_Mutation_p.R36T	p.R36T							2	234	+								C9J9D1|C9JZ62|C9K046|Q6P434	Missense_Mutation	SNP	ENST00000392002.2	37	c.107G>C	CCDS42571.1	.	.	.	.	.	.	.	.	.	.	G	7.089	0.571696	0.13623	.	.	ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000142046;ENSG00000255730	ENST00000539627;ENST00000413014;ENST00000392002;ENST00000436170;ENST00000447302;ENST00000544232;ENST00000542945;ENST00000537354;ENST00000342187;ENST00000356385;ENST00000546050;ENST00000540732	D;D	0.97870	-3.71;-4.58	4.22	0.558	0.17266	.	1.027160	0.07754	N	0.948972	D	0.93207	0.7836	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B;B	0.15141	0.007;0.007;0.007;0.012;0.0;0.001;0.012	B;B;B;B;B;B;B	0.09377	0.002;0.002;0.002;0.003;0.001;0.001;0.004	D	0.87025	0.2131	10	0.62326	D	0.03	.	5.6687	0.17711	0.1153:0.418:0.4667:0.0	.	36;36;36;36;36;36;36	C9J9D1;C9JZ62;C9K046;Q6P434;F5H5P2;Q6ZNR0;F5GWC9	.;.;.;.;.;TMM91_HUMAN;.	T	36;36;36;36;36;36;36;36;36;36;22;36	ENSP00000375859:R36T;ENSP00000443246:R36T	ENSP00000443246:R36T	R	+	2	0	CTC-435M10.3;TMEM91	46576161	0.011000	0.17503	0.077000	0.20336	0.192000	0.23643	0.330000	0.19715	0.517000	0.28361	0.561000	0.74099	AGA		0.612	TMEM91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398302.2			32	601	0	0	0	1	0	32	601				
TBX18	9096	broad.mit.edu	37	6	85457659	85457659	+	Silent	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:85457659G>A	ENST00000369663.5	-	5	1255	c.918C>T	c.(916-918)gtC>gtT	p.V306V	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Silent_p.V148V	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	306					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GATAGGCAGTGACGGTTGTGA	0.438																																						ENST00000369663.5																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(916-918)gtC>gtT		T-box 18							112.0	95.0	101.0					6																	85457659		2203	4300	6503	SO:0001819	synonymous_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85457659G>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.918C>T	6.37:g.85457659G>A						TBX18_ENST00000606784.1_Silent_p.V148V|TBX18_ENST00000606521.1_5'UTR	p.V306V	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	5	1255	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	306					A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	c.918C>T	CCDS34495.1																																																																																				0.438	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		30	190	0	0	0	1	0	30	190				
MT-CO3	4514	broad.mit.edu	37	M	9804	9804	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:9804G>A	ENST00000362079.2	+	1	598	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-ND4_ENST00000361381.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TR_ENST00000387439.1_RNA			P00414	COX3_HUMAN	mitochondrially encoded cytochrome c oxidase III	200			A -> T (in LHON; possible rare primary mutation). {ECO:0000269|PubMed:8240356}.		aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						CATTTTTTGTAGCCACAGGCT	0.443																																						ENST00000362079.2																			0				breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						c.(598-600)Gcc>Acc		mitochondrially encoded cytochrome c oxidase III																																				SO:0001583	missense	4514							g.chrM:9804G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938		"""Mitochondrial respiratory chain complex / Complex IV"""	7422	protein-coding gene	gene with protein product		516050	"""cytochrome c oxidase III"""	MTCO3			Standard			Approved	COX3, COIII, CO3		P00414		ENST00000362079.2:c.598G>A	M.37:g.9804G>A	ENSP00000354982:p.Ala200Thr						p.200_200insT							1	598	+								Q14Y83	Missense_Mutation	SNP	ENST00000362079.2	37	c.598G>A																																																																																					0.443	MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024032		15	85	0	0	0	1	0	15	85				
MT-ND4	4538	broad.mit.edu	37	M	11119	11119	+	Silent	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:11119C>T	ENST00000361381.2	+	1	360	c.360C>T	c.(358-360)atC>atT	p.I120I	MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TR_ENST00000387439.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	120					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						ATATTTTATATCTTCTTCGAA	0.418																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(358-360)atC>atT		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001819	synonymous_variant	4538							g.chrM:11119C>T			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.360C>T	M.37:g.11119C>T							p.120_120insI							1	360	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.360C>T																																																																																					0.418	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		8	79	0	0	0	1	0	8	79				
MT-CO1	4512	broad.mit.edu	37	M	5999	5999	+	Silent	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:5999T>C	ENST00000361624.2	+	1	96	c.96T>C	c.(94-96)gcT>gcC	p.A32A	MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	32					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CTAGGCACAGCTCTAAGCCTC	0.493																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(94-96)gcT>gcC		mitochondrially encoded cytochrome c oxidase I																																				SO:0001819	synonymous_variant	4512							g.chrM:5999T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.96T>C	M.37:g.5999T>C							p.32_32insA							1	96	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.96T>C																																																																																					0.493	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		7	77	0	0	0	1	0	7	77				
MT-ATP6	4508	broad.mit.edu	37	M	8701	8701	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:8701A>G	ENST00000361899.2	+	1	175	c.175A>G	c.(175-177)Acc>Gcc	p.T59A	MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-ND4_ENST00000361381.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TR_ENST00000387439.1_RNA			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	59			T -> A (in dbSNP:rs2000975). {ECO:0000269|PubMed:1757091, ECO:0000269|PubMed:3201231}.		ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						AACAAATGATAGCCATACACA	0.403																																						ENST00000361899.2																			0				breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						c.(175-177)Acc>Gcc		mitochondrially encoded ATP synthase 6																																				SO:0001583	missense	4508							g.chrM:8701A>G			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.175A>G	M.37:g.8701A>G	ENSP00000354632:p.Thr59Ala						p.T59A							1	175	+								Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Missense_Mutation	SNP	ENST00000361899.2	37	c.175A>G																																																																																					0.403	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024031		8	97	0	0	0	1	0	8	97				
MT-CYB	4519	broad.mit.edu	37	M	14869	14869	+	Silent	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:14869G>C	ENST00000361789.2	+	1	123	c.123G>C	c.(121-123)ctG>ctC	p.L41L	MT-TH_ENST00000387441.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	41					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						GGCGCCTGCCTGATCCTCCAA	0.493																																						ENST00000361789.2																			0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(121-123)ctG>ctC		mitochondrially encoded cytochrome b																																				SO:0001819	synonymous_variant	4519							g.chrM:14869G>C			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.123G>C	M.37:g.14869G>C							p.41_41insL							1	123	+								Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.123G>C																																																																																					0.493	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038		3	35	0	0	0	1	0	3	35				
HMCN1	83872	broad.mit.edu	37	1	185966578	185966578	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:185966578G>C	ENST00000271588.4	+	25	4025	c.3796G>C	c.(3796-3798)Gat>Cat	p.D1266H	HMCN1_ENST00000367492.2_Missense_Mutation_p.D1266H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1266	Ig-like C2-type 10.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACAGTGGAAGATCTAGAACC	0.383																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(3796-3798)Gat>Cat		hemicentin 1							120.0	108.0	112.0					1																	185966578		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185966578G>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3796G>C	1.37:g.185966578G>C	ENSP00000271588:p.Asp1266His					HMCN1_ENST00000367492.2_Missense_Mutation_p.D1266H	p.D1266H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			25	4025	+			1266			Ig-like C2-type 10.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.3796G>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660822	0.88154	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66638	-0.22;-0.21	5.51	5.51	0.81932	Immunoglobulin-like (1);	0.211109	0.48286	D	0.000184	T	0.62539	0.2436	L	0.43923	1.385	0.51012	D	0.999907	B	0.15930	0.015	B	0.15052	0.012	T	0.55774	-0.8088	10	0.36615	T	0.2	.	19.7818	0.96418	0.0:0.0:1.0:0.0	.	1266	Q96RW7	HMCN1_HUMAN	H	1266	ENSP00000271588:D1266H;ENSP00000356462:D1266H	ENSP00000271588:D1266H	D	+	1	0	HMCN1	184233201	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	5.922000	0.70036	2.736000	0.93811	0.655000	0.94253	GAT		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		50	282	0	0	0	1	0	50	282				
DYRK3	8444	broad.mit.edu	37	1	206822032	206822032	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:206822032G>A	ENST00000367109.2	+	3	1657	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	DYRK3_ENST00000367108.3_Missense_Mutation_p.E477K|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367106.1_Missense_Mutation_p.E477K	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	497	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CTTGTTTATAGAGTTCTTGAA	0.547																																					Melanoma(164;427 2622 26826 51707)	ENST00000367106.1																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25						c.(1429-1431)Gag>Aag		dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3							59.0	62.0	61.0					1																	206822032		2203	4300	6503	SO:0001583	missense	8444				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:206822032G>A	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.1489G>A	1.37:g.206822032G>A	ENSP00000356076:p.Glu497Lys					DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Missense_Mutation_p.E477K|DYRK3_ENST00000367109.2_Missense_Mutation_p.E497K	p.E477K			O43781	DYRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	1902	+	Breast(84;0.183)		497			Protein kinase.		D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	37	c.1429G>A	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.763548	0.69878	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000367106	T;T;T	0.20332	2.08;2.08;2.08	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.100076	0.64402	D	0.000001	T	0.25005	0.0607	N	0.26130	0.795	0.58432	D	0.999997	P;P	0.45902	0.486;0.868	P;P	0.48189	0.484;0.57	T	0.01326	-1.1384	10	0.87932	D	0	.	18.1352	0.89617	0.0:0.0:1.0:0.0	.	497;477	O43781;O43781-2	DYRK3_HUMAN;.	K	497;477;477	ENSP00000356076:E497K;ENSP00000356075:E477K;ENSP00000356073:E477K	ENSP00000356073:E477K	E	+	1	0	DYRK3	204888655	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.657000	0.98554	2.765000	0.95021	0.555000	0.69702	GAG		0.547	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582		19	575	0	0	0	1	0	19	575				
STK4	6789	broad.mit.edu	37	20	43703783	43703783	+	Missense_Mutation	SNP	T	T	A	rs201001614		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr20:43703783T>A	ENST00000372806.3	+	11	1525	c.1430T>A	c.(1429-1431)aTa>aAa	p.I477K	STK4_ENST00000499879.2_Missense_Mutation_p.I422K|STK4_ENST00000372801.1_3'UTR	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	477	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				CTGGATGCCATAGAGGCTAAG	0.572																																					GBM(187;1039 2137 11798 21916 33213)	ENST00000372806.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(1429-1431)aTa>aAa		serine/threonine kinase 4							43.0	42.0	43.0					20																	43703783		2203	4300	6503	SO:0001583	missense	6789				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	g.chr20:43703783T>A		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.1430T>A	20.37:g.43703783T>A	ENSP00000361892:p.Ile477Lys					STK4_ENST00000499879.2_Missense_Mutation_p.I422K|STK4_ENST00000372801.1_3'UTR	p.I477K	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN			11	1525	+		Myeloproliferative disorder(115;0.0122)	477			SARAH.		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	c.1430T>A	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.448883	0.84101	.	.	ENSG00000101109	ENST00000372806;ENST00000499879	T;T	0.74947	-0.89;0.09	5.99	3.72	0.42706	SARAH domain (1);SARAH (1);	0.102004	0.64402	D	0.000012	D	0.82751	0.5105	M	0.75777	2.31	0.80722	D	1	D;D	0.60575	0.986;0.988	D;D	0.69654	0.94;0.965	T	0.83048	-0.0154	10	0.87932	D	0	.	8.4572	0.32906	0.0:0.0674:0.1329:0.7997	.	422;477	F5H5B4;Q13043	.;STK4_HUMAN	K	477;422	ENSP00000361892:I477K;ENSP00000443514:I422K	ENSP00000361892:I477K	I	+	2	0	STK4	43137197	1.000000	0.71417	0.938000	0.37757	0.961000	0.63080	5.914000	0.69964	1.061000	0.40601	0.533000	0.62120	ATA		0.572	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282		11	216	0	0	0	1	0	11	216				
HMCES	56941	broad.mit.edu	37	3	129020839	129020839	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:129020839G>C	ENST00000383463.4	+	6	771	c.682G>C	c.(682-684)Gac>Cac	p.D228H	HMCES_ENST00000417226.2_Missense_Mutation_p.D186H|HMCES_ENST00000502878.2_Missense_Mutation_p.D228H|HMCES_ENST00000389735.3_Missense_Mutation_p.D228H	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	228							DNA binding (GO:0003677)|peptidase activity (GO:0008233)										TAAATGGCTTGACTTTGGTGA	0.463																																						ENST00000383463.4																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						c.(682-684)Gac>Cac									122.0	127.0	126.0					3																	129020839		2203	4300	6503	SO:0001583	missense	0							g.chr3:129020839G>C	AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.682G>C	3.37:g.129020839G>C	ENSP00000372955:p.Asp228His					C3orf37_ENST00000389735.3_Missense_Mutation_p.D228H|C3orf37_ENST00000502878.2_Missense_Mutation_p.D228H|C3orf37_ENST00000417226.2_Missense_Mutation_p.D186H	p.D228H	NM_020187.2	NP_064572.2	Q96FZ2	CC037_HUMAN			6	771	+			228					A6NJR9|Q96G34|Q9NRP3	Missense_Mutation	SNP	ENST00000383463.4	37	c.682G>C	CCDS33852.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287703	0.59976	.	.	ENSG00000183624	ENST00000509042;ENST00000383463;ENST00000417226;ENST00000510314;ENST00000502878;ENST00000389735;ENST00000509551;ENST00000511665	.	.	.	5.2	1.37	0.22104	.	0.140572	0.64402	D	0.000007	T	0.78266	0.4256	M	0.88377	2.95	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.72338	0.977;0.947	T	0.76919	-0.2781	9	0.62326	D	0.03	-16.3914	9.1141	0.36746	0.3126:0.0:0.6874:0.0	.	186;228	E7EMP6;Q96FZ2	.;CC037_HUMAN	H	180;228;186;138;228;228;228;138	.	ENSP00000372955:D228H	D	+	1	0	C3orf37	130503529	1.000000	0.71417	0.326000	0.25389	0.982000	0.71751	3.284000	0.51708	0.035000	0.15519	0.591000	0.81541	GAC		0.463	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2	NM_020187		86	455	0	0	0	1	0	86	455				
SLC17A9	63910	broad.mit.edu	37	20	61591929	61591929	+	Silent	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr20:61591929C>T	ENST00000370351.4	+	4	602	c.471C>T	c.(469-471)agC>agT	p.S157S	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Silent_p.S151S	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	157					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TCACCTACAGCATCGTGGGCG	0.652																																						ENST00000370349.3																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(451-453)agC>agT		solute carrier family 17 (vesicular nucleotide transporter), member 9							49.0	58.0	55.0					20																	61591929		1971	4152	6123	SO:0001819	synonymous_variant	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61591929C>T	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.471C>T	20.37:g.61591929C>T						SLC17A9_ENST00000370351.4_Silent_p.S157S|SLC17A9_ENST00000488738.1_3'UTR	p.S151S			Q9BYT1	S17A9_HUMAN			5	657	+			157					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Silent	SNP	ENST00000370351.4	37	c.453C>T	CCDS42901.1																																																																																				0.652	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		17	157	0	0	0	1	0	17	157				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		16	313	0	0	0	1	0	16	313				
MT-ND5	4540	broad.mit.edu	37	M	13368	13368	+	Silent	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:13368G>A	ENST00000361567.2	+	1	1032	c.1032G>A	c.(1030-1032)ggG>ggA	p.G344G	MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TR_ENST00000387439.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	344					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						ATGTGCTCCGGGTCCATCATC	0.448																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(1030-1032)ggG>ggA		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001819	synonymous_variant	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13368G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1032G>A	M.37:g.13368G>A							p.G344G			P03915	NU5M_HUMAN			1	1032	+			344					Q34773|Q8WCY3	Silent	SNP	ENST00000361567.2	37	c.1032G>A																																																																																					0.448	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		4	29	0	0	0	1	0	4	29				
BCAM	4059	broad.mit.edu	37	19	45315574	45315574	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:45315574A>C	ENST00000270233.6	+	3	381	c.359A>C	c.(358-360)gAg>gCg	p.E120A	BCAM_ENST00000589651.1_Missense_Mutation_p.E120A	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	120	Ig-like V-type 1.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GTGGGCGACGAGCGAGACTAC	0.682																																						ENST00000391955.1																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(358-360)gAg>gCg		basal cell adhesion molecule (Lutheran blood group)							24.0	28.0	27.0					19																	45315574		2203	4298	6501	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45315574A>C	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.359A>C	19.37:g.45315574A>C	ENSP00000270233:p.Glu120Ala					BCAM_ENST00000270233.6_Missense_Mutation_p.E120A	p.E120A			P50895	BCAM_HUMAN			3	403	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	120			Ig-like V-type 1.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.359A>C	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	10.06	1.245746	0.22796	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.26223	1.75;1.75	3.43	2.36	0.29203	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.21761	0.0524	L	0.29908	0.895	0.27355	N	0.95613	P	0.36874	0.572	B	0.43754	0.43	T	0.16012	-1.0417	9	0.42905	T	0.14	-14.82	5.7766	0.18283	0.8682:0.0:0.1318:0.0	.	120	P50895	BCAM_HUMAN	A	120	ENSP00000270233:E120A;ENSP00000375817:E120A	ENSP00000270233:E120A	E	+	2	0	BCAM	50007414	1.000000	0.71417	0.691000	0.30163	0.294000	0.27393	1.634000	0.37123	0.456000	0.26937	0.260000	0.18958	GAG		0.682	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		13	208	0	0	0	1	0	13	208				
FBXW7	55294	broad.mit.edu	37	4	153332931	153332931	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:153332931C>T	ENST00000281708.4	-	2	1254	c.25G>A	c.(25-27)Ggc>Agc	p.G9S	FBXW7_ENST00000603841.1_Missense_Mutation_p.G9S|FBXW7_ENST00000603548.1_Missense_Mutation_p.G9S|FBXW7_ENST00000604872.1_Missense_Mutation_p.G9S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	9					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTTTTGCTGCCCACAGAGAGC	0.483			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		0				NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(25-27)Ggc>Agc		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							63.0	55.0	57.0					4																	153332931		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153332931C>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.25G>A	4.37:g.153332931C>T	ENSP00000281708:p.Gly9Ser					FBXW7_ENST00000603548.1_Missense_Mutation_p.G9S|FBXW7_ENST00000603841.1_Missense_Mutation_p.G9S|FBXW7_ENST00000604872.1_Missense_Mutation_p.G9S	p.G9S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			2	1254	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	9					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.25G>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332824	0.81801	.	.	ENSG00000109670	ENST00000281708	T	0.66995	-0.24	5.67	5.67	0.87782	.	0.073729	0.52532	D	0.000071	T	0.71896	0.3394	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.986	T	0.66256	-0.5969	10	0.18276	T	0.48	-5.609	19.7677	0.96349	0.0:1.0:0.0:0.0	.	9;9	G0Z2K0;Q969H0	.;FBXW7_HUMAN	S	9	ENSP00000281708:G9S	ENSP00000281708:G9S	G	-	1	0	FBXW7	153552381	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.456000	0.80751	2.668000	0.90789	0.650000	0.86243	GGC		0.483	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			37	171	0	0	0	1	0	37	171				
MT-CYB	4519	broad.mit.edu	37	M	14905	14905	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:14905G>A	ENST00000361789.2	+	1	159	c.159G>A	c.(157-159)atG>atA	p.M53I	MT-TH_ENST00000387441.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	53					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						TTCCTAGCCATACACTACTCA	0.532																																						ENST00000361789.2																			0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(157-159)atG>atA		mitochondrially encoded cytochrome b																																				SO:0001583	missense	4519							g.chrM:14905G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.159G>A	M.37:g.14905G>A	ENSP00000354554:p.Met53Ile						p.53_53insI							1	159	+								Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.159G>A																																																																																					0.532	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038		6	26	0	0	0	1	0	6	26				
TAF1L	138474	broad.mit.edu	37	9	32634851	32634851	+	Silent	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:32634851A>G	ENST00000242310.4	-	1	816	c.727T>C	c.(727-729)Ttg>Ctg	p.L243L	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	243					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACACTTGGCAACAGCTTGGTG	0.488																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(727-729)Ttg>Ctg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							136.0	124.0	128.0					9																	32634851		2203	4300	6503	SO:0001819	synonymous_variant	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.chr9:32634851A>G	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.727T>C	9.37:g.32634851A>G						RP11-555J4.4_ENST00000430787.1_RNA	p.L243L	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	816	-			243					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.727T>C	CCDS35003.1																																																																																				0.488	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			46	523	0	0	0	1	0	46	523				
TNXB	7148	broad.mit.edu	37	6	32020759	32020759	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:32020759C>G	ENST00000375244.3	-	26	9004	c.8803G>C	c.(8803-8805)Gaa>Caa	p.E2935Q	TNXB_ENST00000375247.2_Missense_Mutation_p.E2933Q			P22105	TENX_HUMAN	tenascin XB	2980	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCGGGAGTTTCTTCCTCTGCA	0.637																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(8803-8805)Gaa>Caa		tenascin XB							32.0	39.0	36.0					6																	32020759		1225	2527	3752	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32020759C>G	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.8803G>C	6.37:g.32020759C>G	ENSP00000364393:p.Glu2935Gln					TNXB_ENST00000375247.2_Missense_Mutation_p.E2933Q	p.E2935Q			P22105	TENX_HUMAN			26	9004	-			2980			Fibronectin type-III 21.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.8803G>C		.	.	.	.	.	.	.	.	.	.	c	15.55	2.867263	0.51588	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.58652	0.55;0.32	4.61	3.74	0.42951	.	0.168845	0.27896	N	0.017419	T	0.53706	0.1813	L	0.59967	1.855	0.23089	N	0.99831	D	0.89917	1.0	D	0.75484	0.986	T	0.46247	-0.9205	10	0.22706	T	0.39	.	9.9562	0.41668	0.0:0.9014:0.0:0.0986	.	2933	P22105-3	.	Q	2935;2933	ENSP00000364393:E2935Q;ENSP00000364396:E2933Q	ENSP00000364393:E2935Q	E	-	1	0	TNXB	32128737	0.007000	0.16637	0.989000	0.46669	0.628000	0.37860	1.759000	0.38420	0.916000	0.36871	0.591000	0.81541	GAA		0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		47	209	0	0	0	1	0	47	209				
DPP8	54878	broad.mit.edu	37	15	65793003	65793003	+	Silent	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr15:65793003G>A	ENST00000341861.5	-	4	2115	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	DPP8_ENST00000300141.6_Silent_p.L163L|DPP8_ENST00000358939.4_Silent_p.L163L|DPP8_ENST00000559233.1_Silent_p.L179L|Y_RNA_ENST00000516408.1_RNA|DPP8_ENST00000321147.6_Silent_p.L179L|DPP8_ENST00000321118.7_Silent_p.L179L|DPP8_ENST00000339244.5_Silent_p.L179L	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	179					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.L163V(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCTTGAAACAGAAATGTTCCA	0.403																																						ENST00000341861.5																			1	Substitution - Missense(1)	p.L163V(1)	lung(1)	NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(535-537)Ctg>Ttg		dipeptidyl-peptidase 8							192.0	181.0	185.0					15																	65793003		2201	4299	6500	SO:0001819	synonymous_variant	54878				immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr15:65793003G>A	AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.535C>T	15.37:g.65793003G>A						DPP8_ENST00000358939.4_Silent_p.L163L|DPP8_ENST00000559233.1_Silent_p.L179L|DPP8_ENST00000339244.5_Silent_p.L179L|DPP8_ENST00000321118.7_Silent_p.L179L|DPP8_ENST00000321147.6_Silent_p.L179L|DPP8_ENST00000300141.6_Silent_p.L163L	p.L179L	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN			4	2115	-			179					Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Silent	SNP	ENST00000341861.5	37	c.535C>T	CCDS10207.1																																																																																				0.403	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256847.1	NM_017743		102	757	0	0	0	1	0	102	757				
MT-ATP6	4508	broad.mit.edu	37	M	8684	8684	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:8684C>T	ENST00000361899.2	+	1	158	c.158C>T	c.(157-159)aCc>aTc	p.T53I	MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-ND4_ENST00000361381.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TR_ENST00000387439.1_RNA			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	53			T -> I. {ECO:0000269|PubMed:15467980}.		ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						AATCAAACTAACCTCAAAACA	0.398																																						ENST00000361899.2																			0				breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						c.(157-159)aCc>aTc		mitochondrially encoded ATP synthase 6																																				SO:0001583	missense	4508							g.chrM:8684C>T			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.158C>T	M.37:g.8684C>T	ENSP00000354632:p.Thr53Ile						p.T53I							1	158	+								Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Missense_Mutation	SNP	ENST00000361899.2	37	c.158C>T																																																																																					0.398	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024031		7	110	0	0	0	1	0	7	110				
ARHGAP15	55843	broad.mit.edu	37	2	143959733	143959733	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:143959733C>T	ENST00000295095.6	+	3	363	c.196C>T	c.(196-198)Cat>Tat	p.H66Y	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.H66Y	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	66					positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TCATTCACAGCATATCTTGAA	0.303																																						ENST00000409869.1																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(196-198)Cat>Tat		Rho GTPase activating protein 15							120.0	120.0	120.0					2																	143959733		2203	4300	6503	SO:0001583	missense	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:143959733C>T	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.196C>T	2.37:g.143959733C>T	ENSP00000295095:p.His66Tyr					ARHGAP15_ENST00000295095.6_Missense_Mutation_p.H66Y	p.H66Y			Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	4	373	+			66					Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	c.196C>T	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600439	0.66332	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T	0.08102	3.13	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.18130	0.0435	L	0.34521	1.04	0.41455	D	0.988008	D;B	0.76494	0.999;0.355	D;B	0.83275	0.996;0.046	T	0.09487	-1.0672	10	0.10636	T	0.68	.	17.8083	0.88608	0.0:1.0:0.0:0.0	.	66;66	B4E0R3;Q53QZ3	.;RHG15_HUMAN	Y	66	ENSP00000295095:H66Y	ENSP00000295095:H66Y	H	+	1	0	ARHGAP15	143676203	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.000000	0.63940	2.646000	0.89796	0.585000	0.79938	CAT		0.303	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460		66	306	0	0	0	1	0	66	306				
LARS2	23395	broad.mit.edu	37	3	45533136	45533136	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:45533136G>A	ENST00000415258.1	+	12	1508	c.1367G>A	c.(1366-1368)gGc>gAc	p.G456D	LARS2_ENST00000265537.3_Missense_Mutation_p.G456D|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000414984.1_Missense_Mutation_p.G413D			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	456					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	CGGTACTGGGGCACACCAATC	0.582																																						ENST00000415258.1																			0				endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1366-1368)gGc>gAc		leucyl-tRNA synthetase 2, mitochondrial	L-Leucine(DB00149)						113.0	108.0	109.0					3																	45533136		2203	4300	6503	SO:0001583	missense	23395				leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity	g.chr3:45533136G>A	AJ312685	CCDS2728.1	3p21.3	2012-10-26			ENSG00000011376	ENSG00000011376	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	17095	protein-coding gene	gene with protein product	"""leucine tRNA ligase 2, mitochondrial"""	604544				20194621, 15123417	Standard	NM_015340		Approved	KIAA0028, LEURS, MGC26121	uc003cop.1	Q15031	OTTHUMG00000133177	ENST00000415258.1:c.1367G>A	3.37:g.45533136G>A	ENSP00000408576:p.Gly456Asp					LARS2_ENST00000414984.1_Missense_Mutation_p.G413D|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Missense_Mutation_p.G456D	p.G456D			Q15031	SYLM_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	12	1508	+			456						Missense_Mutation	SNP	ENST00000415258.1	37	c.1367G>A	CCDS2728.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.618477	0.87359	.	.	ENSG00000011376	ENST00000265537;ENST00000415258;ENST00000414984	D;D;D	0.97114	-4.25;-4.25;-4.25	5.88	4.99	0.66335	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.050320	0.85682	D	0.000000	D	0.99281	0.9749	H	0.99726	4.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98237	1.0486	10	0.87932	D	0	-32.9792	16.2532	0.82497	0.0:0.0:0.8663:0.1337	.	413;456	E9PHM2;Q15031	.;SYLM_HUMAN	D	456;456;413	ENSP00000265537:G456D;ENSP00000408576:G456D;ENSP00000412893:G413D	ENSP00000265537:G456D	G	+	2	0	LARS2	45508140	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.460000	0.97641	1.446000	0.47643	0.561000	0.74099	GGC		0.582	LARS2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345001.1	NM_015340		65	298	0	0	0	1	0	65	298				
CDCA5	113130	broad.mit.edu	37	11	64847203	64847203	+	Silent	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:64847203C>T	ENST00000275517.3	-	5	472	c.300G>A	c.(298-300)gaG>gaA	p.E100E	CDCA5_ENST00000404147.3_Silent_p.E100E	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	100					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGAAAAGGTCCTCCTTAGTAA	0.567																																						ENST00000275517.3																			0				large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(298-300)gaG>gaA		cell division cycle associated 5							18.0	17.0	18.0					11																	64847203		2200	4297	6497	SO:0001819	synonymous_variant	113130				cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding	g.chr11:64847203C>T	BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"""sororin"""	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.300G>A	11.37:g.64847203C>T						CDCA5_ENST00000404147.3_Silent_p.E100E	p.E100E	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN			5	472	-			100					A8K625	Silent	SNP	ENST00000275517.3	37	c.300G>A	CCDS8091.1																																																																																				0.567	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385186.1	NM_080668		4	67	0	0	0	1	0	4	67				
CTD-2066L21.3	0	broad.mit.edu	37	5	33162549	33162549	+	lincRNA	SNP	T	T	C	rs531959270	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:33162549T>C	ENST00000510327.1	-	0	346																											CATCTAATAATGAGCTGGTTC	0.522													C|||	2	0.000399361	0.0	0.0	5008	,	,		18116	0.0		0.002	False		,,,				2504	0.0					ENST00000510327.1																			0																																																			0							g.chr5:33162549T>C																													5.37:g.33162549T>C														0	346	-									RNA	SNP	ENST00000510327.1	37																																																																																						0.522	CTD-2066L21.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366718.1			36	299	0	0	0	1	0	36	299				
GATB	5188	broad.mit.edu	37	4	152638043	152638043	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:152638043C>T	ENST00000515812.1	-	4	641	c.625G>A	c.(625-627)Gat>Aat	p.D209N	PET112_ENST00000263985.6_Missense_Mutation_p.D209N|PET112_ENST00000512306.1_Missense_Mutation_p.D209N																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						CTGTTCAAATCAATGAGCGTC	0.493																																						ENST00000263985.6																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(625-627)Gat>Aat		PET112 homolog (yeast)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						152.0	131.0	138.0					4																	152638043		2203	4300	6503	SO:0001583	missense	5188					mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding	g.chr4:152638043C>T																												ENST00000515812.1:c.625G>A	4.37:g.152638043C>T	ENSP00000426859:p.Asp209Asn					PET112_ENST00000515812.1_Missense_Mutation_p.D209N|PET112_ENST00000512306.1_Missense_Mutation_p.D209N	p.D209N	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN			4	665	-			209						Missense_Mutation	SNP	ENST00000515812.1	37	c.625G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.158723	0.94686	.	.	ENSG00000059691	ENST00000263985;ENST00000515812;ENST00000512306	T;T;T	0.66638	-0.07;-0.22;0.22	6.08	6.08	0.98989	Aspartyl/Glutamyl-tRNA(Gln) amidotransferase, subunit B/E, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.85978	0.5823	M	0.89163	3.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87023	0.2130	10	0.87932	D	0	-23.3706	20.6647	0.99678	0.0:1.0:0.0:0.0	.	209;209	D6RDU9;O75879	.;GATB_HUMAN	N	209	ENSP00000263985:D209N;ENSP00000426859:D209N;ENSP00000420831:D209N	ENSP00000263985:D209N	D	-	1	0	PET112	152857493	1.000000	0.71417	0.909000	0.35828	0.866000	0.49608	7.544000	0.82117	2.890000	0.99128	0.655000	0.94253	GAT		0.493	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1			58	462	0	0	0	1	0	58	462				
MT-CO1	4512	broad.mit.edu	37	M	6047	6047	+	Silent	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:6047A>G	ENST00000361624.2	+	1	144	c.144A>G	c.(142-144)ctA>ctG	p.L48L	MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	48					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						GGCAACCTTCTAGGTAACGAC	0.473																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(142-144)ctA>ctG		mitochondrially encoded cytochrome c oxidase I																																				SO:0001819	synonymous_variant	4512							g.chrM:6047A>G			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.144A>G	M.37:g.6047A>G							p.48_48insL							1	144	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.144A>G																																																																																					0.473	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		9	74	0	0	0	1	0	9	74				
CTD-2066L21.3	0	broad.mit.edu	37	5	33162637	33162637	+	lincRNA	SNP	C	C	T	rs1842247	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:33162637C>T	ENST00000510327.1	-	0	346																											TGTCCCACTACGTGCTGCCCC	0.468													C|||	137	0.0273562	0.0998	0.0043	5008	,	,		19228	0.0		0.002	False		,,,				2504	0.0					ENST00000510327.1																			0																																																			0							g.chr5:33162637C>T																													5.37:g.33162637C>T														0	346	-									RNA	SNP	ENST00000510327.1	37																																																																																						0.468	CTD-2066L21.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366718.1			7	162	0	0	0	1	0	7	162				
OCRL	4952	broad.mit.edu	37	X	128696369	128696369	+	Silent	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:128696369G>A	ENST00000371113.4	+	11	1113	c.948G>A	c.(946-948)ctG>ctA	p.L316L	OCRL_ENST00000357121.5_Silent_p.L316L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	316	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AGGTTCAACTGGTGCGCCTTG	0.403																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(946-948)ctG>ctA		oculocerebrorenal syndrome of Lowe							176.0	157.0	164.0					X																	128696369		2203	4300	6503	SO:0001819	synonymous_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128696369G>A	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.948G>A	X.37:g.128696369G>A						OCRL_ENST00000357121.5_Silent_p.L316L	p.L316L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			11	1113	+			316					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000371113.4	37	c.948G>A	CCDS35393.1																																																																																				0.403	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		85	328	0	0	0	1	0	85	328				
PRKDC	5591	broad.mit.edu	37	8	48744458	48744458	+	Silent	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:48744458G>A	ENST00000314191.2	-	61	8235	c.8179C>T	c.(8179-8181)Ctg>Ttg	p.L2727L	PRKDC_ENST00000338368.3_Silent_p.L2727L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2728	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CGTCTGCGCAGTCGTAGTAGG	0.552								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(8179-8181)Ctg>Ttg	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							173.0	178.0	177.0					8																	48744458		1980	4165	6145	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48744458G>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8179C>T	8.37:g.48744458G>A						PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L2727L	p.L2727L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			61	8235	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2728			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.8179C>T																																																																																					0.552	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		142	774	0	0	0	1	0	142	774				
ZNF318	24149	broad.mit.edu	37	6	43305986	43305986	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:43305986C>A	ENST00000361428.2	-	10	5827	c.5750G>T	c.(5749-5751)aGt>aTt	p.S1917I	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1917					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCCCTCCTCACTAACAACTGA	0.438																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(5749-5751)aGt>aTt		zinc finger protein 318							96.0	97.0	97.0					6																	43305986		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43305986C>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5750G>T	6.37:g.43305986C>A	ENSP00000354964:p.Ser1917Ile					ZNF318_ENST00000318149.3_Intron	p.S1917I	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	5827	-			1917					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.5750G>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	8.799	0.932489	0.18131	.	.	ENSG00000171467	ENST00000361428	T	0.12984	2.63	4.96	0.819	0.18785	.	0.554792	0.17839	N	0.160277	T	0.02119	0.0066	N	0.24115	0.695	0.19775	N	0.999955	P	0.36837	0.571	B	0.34385	0.181	T	0.39210	-0.9625	10	0.56958	D	0.05	-0.9562	1.1873	0.01858	0.1517:0.4198:0.1482:0.2803	.	1917	Q5VUA4	ZN318_HUMAN	I	1917	ENSP00000354964:S1917I	ENSP00000354964:S1917I	S	-	2	0	ZNF318	43413964	0.000000	0.05858	0.826000	0.32828	0.342000	0.28953	-0.130000	0.10498	0.257000	0.21650	0.644000	0.83932	AGT		0.438	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		75	509	1	0	3.66258e-25	1	3.96901e-25	75	509				
RPLP0P6	220717	broad.mit.edu	37	2	38709239	38709239	+	lincRNA	SNP	T	T	C	rs112834477	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:38709239T>C	ENST00000417039.1	-	0	696																											GCCTCATATCTGGGGGAATGT	0.567													t|||	41	0.0081869	0.0295	0.0029	5008	,	,		20483	0.0		0.0	False		,,,				2504	0.0					ENST00000417039.1																			0																																																			0							g.chr2:38709239T>C																													2.37:g.38709239T>C														0	696	-									RNA	SNP	ENST00000417039.1	37																																																																																						0.567	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			55	336	0	0	0	1	0	55	336				
CHRNB2	1141	broad.mit.edu	37	1	154544140	154544140	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:154544140C>G	ENST00000368476.3	+	5	1105	c.841C>G	c.(841-843)Ctg>Gtg	p.L281V		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	281					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	GGTCTTCCTGCTGCTCATCTC	0.577																																						ENST00000368476.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28						c.(841-843)Ctg>Gtg		cholinergic receptor, nicotinic, beta 2 (neuronal)	Nicotine(DB00184)						244.0	181.0	202.0					1																	154544140		2203	4300	6503	SO:0001583	missense	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154544140C>G	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.841C>G	1.37:g.154544140C>G	ENSP00000357461:p.Leu281Val						p.L281V	NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	1105	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		281					Q9UEH9	Missense_Mutation	SNP	ENST00000368476.3	37	c.841C>G	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549775	0.65311	.	.	ENSG00000160716	ENST00000368476	D	0.87571	-2.27	3.97	3.97	0.46021	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.64402	D	0.000001	D	0.95085	0.8408	H	0.96015	3.755	0.58432	D	0.999999	D	0.64830	0.994	D	0.85130	0.997	D	0.96704	0.9520	10	0.87932	D	0	.	15.8078	0.78527	0.0:1.0:0.0:0.0	.	281	P17787	ACHB2_HUMAN	V	281	ENSP00000357461:L281V	ENSP00000357461:L281V	L	+	1	2	CHRNB2	152810764	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	3.888000	0.56204	2.024000	0.59613	0.313000	0.20887	CTG		0.577	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		71	623	0	0	0	1	0	71	623				
ITGAE	3682	broad.mit.edu	37	17	3661083	3661083	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:3661083C>A	ENST00000263087.4	-	9	1035	c.937G>T	c.(937-939)Ggt>Tgt	p.G313C		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	313	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AATATGCCACCATCGGTGAGC	0.542																																					NSCLC(182;635 2928 8995 38788)	ENST00000263087.4																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(937-939)Ggt>Tgt		integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)							232.0	213.0	220.0					17																	3661083		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3661083C>A	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.937G>T	17.37:g.3661083C>A	ENSP00000263087:p.Gly313Cys						p.G313C	NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	9	1035	-			313			VWFA.		Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.937G>T	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353139	0.82132	.	.	ENSG00000083457	ENST00000263087	D	0.93019	-3.15	5.56	5.56	0.83823	von Willebrand factor, type A (3);	.	.	.	.	D	0.97424	0.9157	M	0.91872	3.25	0.54753	D	0.999986	D	0.89917	1.0	D	0.97110	1.0	D	0.97965	1.0340	9	0.87932	D	0	.	17.3887	0.87424	0.0:1.0:0.0:0.0	.	313	P38570	ITAE_HUMAN	C	313	ENSP00000263087:G313C	ENSP00000263087:G313C	G	-	1	0	ITGAE	3607832	1.000000	0.71417	0.998000	0.56505	0.801000	0.45260	5.183000	0.65065	2.787000	0.95880	0.514000	0.50259	GGT		0.542	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		186	981	1	0	2.29838e-65	1	2.56212e-65	186	981				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		6	127	0	0	0	1	0	6	127				
KIF4B	285643	broad.mit.edu	37	5	154395716	154395716	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:154395716A>C	ENST00000435029.4	+	1	2457	c.2297A>C	c.(2296-2298)gAc>gCc	p.D766A		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	766	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CATCTGAATGACCTCCTTGAA	0.458																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2296-2298)gAc>gCc		kinesin family member 4B							76.0	74.0	75.0					5																	154395716		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395716A>C	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2297A>C	5.37:g.154395716A>C	ENSP00000387875:p.Asp766Ala						p.D766A	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2457	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	766			Interaction with PRC1 (By similarity).			Missense_Mutation	SNP	ENST00000435029.4	37	c.2297A>C	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	a	14.79	2.641957	0.47153	.	.	ENSG00000226650	ENST00000435029	T	0.68181	-0.31	2.14	2.14	0.27477	.	.	.	.	.	T	0.55226	0.1907	L	0.55481	1.735	0.49915	D	0.999833	B	0.22909	0.077	B	0.23275	0.045	T	0.42999	-0.9418	9	0.15952	T	0.53	.	8.1524	0.31148	1.0:0.0:0.0:0.0	.	766	Q2VIQ3	KIF4B_HUMAN	A	766	ENSP00000387875:D766A	ENSP00000387875:D766A	D	+	2	0	KIF4B	154375909	1.000000	0.71417	0.982000	0.44146	0.951000	0.60555	3.984000	0.56923	0.939000	0.37446	0.460000	0.39030	GAC		0.458	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			41	255	0	0	0	1	0	41	255				
IGF2R	3482	broad.mit.edu	37	6	160492963	160492963	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:160492963A>C	ENST00000356956.1	+	32	4613	c.4465A>C	c.(4465-4467)Agc>Cgc	p.S1489R		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1489				S -> N (in Ref. 2; AAA59866). {ECO:0000305}.	insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CATGTTCATCAGCGCCGTGGA	0.517																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(4465-4467)Agc>Cgc		insulin-like growth factor 2 receptor							192.0	164.0	173.0					6																	160492963		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160492963A>C	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4465A>C	6.37:g.160492963A>C	ENSP00000349437:p.Ser1489Arg						p.S1489R	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	32	4613	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1489	S -> N (in Ref. 2; AAA59866).				Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.4465A>C	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.005983	0.74932	.	.	ENSG00000197081	ENST00000356956	T	0.02050	4.48	5.36	5.36	0.76844	Mannose-6-phosphate receptor, binding (1);	0.279013	0.41605	D	0.000852	T	0.05135	0.0137	M	0.67625	2.065	0.46586	D	0.999118	D	0.71674	0.998	D	0.72338	0.977	T	0.28933	-1.0028	10	0.45353	T	0.12	-6.113	10.2898	0.43588	0.8527:0.0:0.0:0.1473	.	1489	P11717	MPRI_HUMAN	R	1489	ENSP00000349437:S1489R	ENSP00000349437:S1489R	S	+	1	0	IGF2R	160412953	1.000000	0.71417	0.977000	0.42913	0.905000	0.53344	5.343000	0.65976	2.024000	0.59613	0.533000	0.62120	AGC		0.517	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		24	589	0	0	0	1	0	24	589				
MT-ND1	4535	broad.mit.edu	37	M	3438	3438	+	Silent	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:3438G>A	ENST00000361390.2	+	1	132	c.132G>A	c.(130-132)ggG>ggA	p.G44G	MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-CO1_ENST00000361624.2_5'Flank			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1	44					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCCCCTACGGGCTACTACAA	0.498																																						ENST00000361390.2																			0				breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						c.(130-132)ggG>ggA		mitochondrially encoded NADH dehydrogenase 1																																				SO:0001819	synonymous_variant	4535							g.chrM:3438G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886		ENST00000361390.2:c.132G>A	M.37:g.3438G>A							p.44_44insG							1	132	+								C0JKH6|Q37523	Missense_Mutation	SNP	ENST00000361390.2	37	c.132G>A																																																																																					0.498	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024026		4	31	0	0	0	1	0	4	31				
SLC3A2	6520	broad.mit.edu	37	11	62648627	62648627	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:62648627G>C	ENST00000377890.2	+	4	603	c.435G>C	c.(433-435)aaG>aaC	p.K145N	SLC3A2_ENST00000536981.1_5'Flank|SLC3A2_ENST00000377889.2_Missense_Mutation_p.K83N|SLC3A2_ENST00000338663.7_Missense_Mutation_p.K44N|SLC3A2_ENST00000535296.1_Missense_Mutation_p.K114N|SLC3A2_ENST00000377891.2_Missense_Mutation_p.K146N|SLC3A2_ENST00000377892.1_Missense_Mutation_p.K176N	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	145					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GTCTGGTGAAGATCAAGGTGG	0.657											OREG0021031	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377892.1																			0				endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						c.(526-528)aaG>aaC		solute carrier family 3 (amino acid transporter heavy chain), member 2							26.0	30.0	29.0					11																	62648627		2200	4297	6497	SO:0001583	missense	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62648627G>C		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.435G>C	11.37:g.62648627G>C	ENSP00000367122:p.Lys145Asn		OREG0021031	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1062	SLC3A2_ENST00000338663.7_Missense_Mutation_p.K44N|SLC3A2_ENST00000377890.2_Missense_Mutation_p.K145N|SLC3A2_ENST00000377889.2_Missense_Mutation_p.K83N|SLC3A2_ENST00000377891.2_Missense_Mutation_p.K146N|SLC3A2_ENST00000535296.1_Missense_Mutation_p.K114N	p.K176N			P08195	4F2_HUMAN			5	752	+			145					Q13543	Missense_Mutation	SNP	ENST00000377890.2	37	c.528G>C	CCDS8039.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.1|21.1	4.105228|4.105228	0.77096|0.77096	.|.	.|.	ENSG00000168003|ENSG00000168003	ENST00000377892;ENST00000377891;ENST00000377890;ENST00000542007;ENST00000377889;ENST00000535296;ENST00000544377;ENST00000338663;ENST00000539458;ENST00000422606|ENST00000538084	T;T;T;T;T;T;T|.	0.77098|.	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07|.	4.82|4.82	3.91|3.91	0.45181|0.45181	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61837|0.61837	0.2379|0.2379	L|L	0.58510|0.58510	1.815|1.815	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	0.999;1.0;0.999;1.0;1.0|.	T|T	0.59857|0.59857	-0.7375|-0.7375	10|5	0.36615|.	T|.	0.2|.	-25.3552|-25.3552	10.8823|10.8823	0.46946|0.46946	0.0915:0.0:0.9085:0.0|0.0915:0.0:0.9085:0.0	.|.	83;114;145;44;176|.	P08195-3;F5GZS6;P08195;P08195-2;P08195-4|.	.;.;4F2_HUMAN;.;.|.	N|T	176;146;145;146;83;114;44;44;44;44|116	ENSP00000367124:K176N;ENSP00000367123:K146N;ENSP00000367122:K145N;ENSP00000367121:K83N;ENSP00000444236:K114N;ENSP00000442135:K44N;ENSP00000340815:K44N|.	ENSP00000340815:K44N|.	K|R	+|+	3|2	2|0	SLC3A2|SLC3A2	62405203|62405203	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	4.407000|4.407000	0.59754|0.59754	1.261000|1.261000	0.44149|0.44149	-0.258000|-0.258000	0.10820|0.10820	AAG|AGA		0.657	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		8	44	0	0	0	1	0	8	44				
MAP3K10	4294	broad.mit.edu	37	19	40711993	40711993	+	Missense_Mutation	SNP	G	G	A	rs371667509		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:40711993G>A	ENST00000253055.3	+	5	1652	c.1364G>A	c.(1363-1365)cGc>cAc	p.R455H	AC118344.1_ENST00000408124.1_RNA	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	455	Arg/Lys-rich (basic).				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GTCCGCAAGCGCAAGGGCAAC	0.672																																						ENST00000253055.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(1363-1365)cGc>cAc		mitogen-activated protein kinase kinase kinase 10		G	HIS/ARG	0,4404		0,0,2202	22.0	23.0	23.0		1364	4.5	1.0	19		23	1,8599		0,1,4299	no	missense	MAP3K10	NM_002446.3	29	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	455/955	40711993	1,13003	2202	4300	6502	SO:0001583	missense	4294				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	g.chr19:40711993G>A	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1364G>A	19.37:g.40711993G>A	ENSP00000253055:p.Arg455His						p.R455H	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN			5	1652	+			455			Arg/Lys-rich (basic).		Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	c.1364G>A	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010501	0.93346	0.0	1.16E-4	ENSG00000130758	ENST00000253055	T	0.12672	2.66	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.39989	0.1099	M	0.80508	2.5	0.53688	D	0.99997	D	0.89917	1.0	D	0.91635	0.999	T	0.41034	-0.9531	10	0.87932	D	0	.	15.1095	0.72343	0.0:0.0:1.0:0.0	.	455	Q02779	M3K10_HUMAN	H	455	ENSP00000253055:R455H	ENSP00000253055:R455H	R	+	2	0	MAP3K10	45403833	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.803000	0.99136	2.204000	0.70986	0.491000	0.48974	CGC		0.672	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446		31	128	0	0	0	1	0	31	128				
MT-ND5	4540	broad.mit.edu	37	M	13743	13743	+	Silent	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:13743T>C	ENST00000361567.2	+	1	1407	c.1407T>C	c.(1405-1407)acT>acC	p.T469T	MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	469					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TTTCTCATTACTAACAACATT	0.493																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(1405-1407)acT>acC		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001819	synonymous_variant	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13743T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1407T>C	M.37:g.13743T>C							p.T469T			P03915	NU5M_HUMAN			1	1407	+			469					Q34773|Q8WCY3	Silent	SNP	ENST00000361567.2	37	c.1407T>C																																																																																					0.493	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		3	21	0	0	0	1	0	3	21				
ADAMTS10	81794	broad.mit.edu	37	19	8661292	8661292	+	Silent	SNP	C	C	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:8661292C>A	ENST00000597188.1	-	10	1359	c.1089G>T	c.(1087-1089)ctG>ctT	p.L363L	ADAMTS10_ENST00000596709.1_5'Flank|ADAMTS10_ENST00000270328.4_Silent_p.L363L	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	363	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CCACCGGGGCCAGGCCTGGGA	0.657																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(1087-1089)ctG>ctT		ADAM metallopeptidase with thrombospondin type 1 motif, 10							33.0	32.0	33.0					19																	8661292		2203	4300	6503	SO:0001819	synonymous_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8661292C>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.1089G>T	19.37:g.8661292C>A						ADAMTS10_ENST00000597188.1_Silent_p.L363L	p.L363L			Q9H324	ATS10_HUMAN			9	1355	-			363			Peptidase M12B.		M0QZE4	Silent	SNP	ENST00000597188.1	37	c.1089G>T	CCDS12206.1																																																																																				0.657	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		15	137	1	0	3.45872e-05	1	3.51034e-05	15	137				
ZSCAN5B	342933	broad.mit.edu	37	19	56701318	56701318	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:56701318C>T	ENST00000586855.2	-	5	1679	c.1366G>A	c.(1366-1368)Gtt>Att	p.V456I	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.V456I			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	456					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CGCTGGTGAACGTTCAGGTTC	0.537																																						ENST00000586855.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(1366-1368)Gtt>Att		zinc finger and SCAN domain containing 5B							90.0	91.0	91.0					19																	56701318		2090	4246	6336	SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701318C>T		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1366G>A	19.37:g.56701318C>T	ENSP00000466072:p.Val456Ile					ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.V456I	p.V456I			A6NJL1	ZSA5B_HUMAN			5	1679	-			456						Missense_Mutation	SNP	ENST00000586855.2	37	c.1366G>A	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	C	6.483	0.457212	0.12342	.	.	ENSG00000197213	ENST00000358992	T	0.35973	1.28	3.57	-0.0824	0.13698	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16854	0.0405	N	0.22421	0.69	0.09310	N	1	P	0.47350	0.894	B	0.36808	0.233	T	0.16012	-1.0417	9	0.56958	D	0.05	.	0.8009	0.01075	0.1894:0.3971:0.1855:0.2281	.	456	A6NJL1	ZSA5B_HUMAN	I	456	ENSP00000351883:V456I	ENSP00000351883:V456I	V	-	1	0	ZSCAN5B	61393130	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.153000	0.01287	-0.021000	0.14009	-0.384000	0.06662	GTT		0.537	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		11	248	0	0	0	1	0	11	248				
LRRC6	23639	broad.mit.edu	37	8	133595976	133595976	+	Silent	SNP	A	A	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:133595976A>T	ENST00000519595.1	-	11	1289	c.1191T>A	c.(1189-1191)acT>acA	p.T397T	LRRC6_ENST00000250173.1_Silent_p.T397T|LRRC6_ENST00000518642.1_Silent_p.T394T			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	397					cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGTCCGAGGTAGTTTTCATAG	0.403																																						ENST00000519595.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34						c.(1189-1191)acT>acA		leucine rich repeat containing 6							210.0	180.0	191.0					8																	133595976		2203	4300	6503	SO:0001819	synonymous_variant	23639					cytoplasm		g.chr8:133595976A>T	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.1191T>A	8.37:g.133595976A>T						LRRC6_ENST00000250173.1_Silent_p.T397T|LRRC6_ENST00000518642.1_Silent_p.T394T	p.T397T			Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		11	1289	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		397					Q13648|Q4G183	Silent	SNP	ENST00000519595.1	37	c.1191T>A																																																																																					0.403	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		32	325	0	0	0	1	0	32	325				
CRB1	23418	broad.mit.edu	37	1	197404147	197404147	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:197404147C>G	ENST00000367400.3	+	9	3289	c.3154C>G	c.(3154-3156)Caa>Gaa	p.Q1052E	CRB1_ENST00000367397.1_Missense_Mutation_p.Q433E|CRB1_ENST00000535699.1_Missense_Mutation_p.Q1028E|CRB1_ENST00000544212.1_Missense_Mutation_p.Q533E|CRB1_ENST00000367399.2_Missense_Mutation_p.Q940E|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000538660.1_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1052	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTCCAGGTGGCAAATGGAAGT	0.453																																						ENST00000367397.1																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1297-1299)Caa>Gaa		crumbs homolog 1 (Drosophila)							78.0	81.0	80.0					1																	197404147		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197404147C>G		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3154C>G	1.37:g.197404147C>G	ENSP00000356370:p.Gln1052Glu					CRB1_ENST00000367400.3_Missense_Mutation_p.Q1052E|CRB1_ENST00000535699.1_Missense_Mutation_p.Q1028E|CRB1_ENST00000544212.1_Missense_Mutation_p.Q533E|CRB1_ENST00000367399.2_Missense_Mutation_p.Q940E|CRB1_ENST00000538660.1_Intron	p.Q433E			P82279	CRUM1_HUMAN			5	2155	+			1052		Y -> C (in RP12).	EGF-like 10; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1297C>G	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	9.543	1.113985	0.20795	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.7	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.70509	0.3232	M	0.68317	2.08	0.38634	D	0.951453	P;P;B;P	0.38280	0.571;0.571;0.228;0.625	B;B;B;B	0.38156	0.121;0.229;0.083;0.266	T	0.68112	-0.5495	9	0.02654	T	1	.	10.6667	0.45734	0.1324:0.7976:0.0:0.0701	.	1028;940;701;1052	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	E	1028;1052;940;533;433;701	ENSP00000438786:Q1028E;ENSP00000356370:Q1052E;ENSP00000356369:Q940E;ENSP00000444556:Q533E;ENSP00000356367:Q433E	ENSP00000356367:Q433E	Q	+	1	0	CRB1	195670770	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	2.552000	0.45828	2.681000	0.91329	0.650000	0.86243	CAA		0.453	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		22	492	0	0	0	1	0	22	492				
TRIML1	339976	broad.mit.edu	37	4	189065010	189065010	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:189065010G>C	ENST00000332517.3	+	4	894	c.754G>C	c.(754-756)Gaa>Caa	p.E252Q	TRIML1_ENST00000507581.1_3'UTR|RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	252					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGGAGCCCTGGAAAGGTAGGC	0.488																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(754-756)Gaa>Caa		tripartite motif family-like 1							226.0	224.0	225.0					4																	189065010		2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189065010G>C	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.754G>C	4.37:g.189065010G>C	ENSP00000327738:p.Glu252Gln					TRIML1_ENST00000507581.1_3'UTR	p.E252Q	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	4	894	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	252					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.754G>C	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	g	11.97	1.797499	0.31777	.	.	ENSG00000184108	ENST00000332517	T	0.04862	3.54	5.82	3.75	0.43078	.	0.347035	0.25112	N	0.033041	T	0.05686	0.0149	L	0.55017	1.72	0.26449	N	0.975649	P	0.35433	0.501	B	0.30495	0.116	T	0.28870	-1.0030	10	0.17832	T	0.49	-15.7788	6.591	0.22646	0.2351:0.0:0.7649:0.0	.	252	Q8N9V2	TRIML_HUMAN	Q	252	ENSP00000327738:E252Q	ENSP00000327738:E252Q	E	+	1	0	TRIML1	189302004	1.000000	0.71417	1.000000	0.80357	0.463000	0.32649	1.020000	0.30027	1.614000	0.50241	0.639000	0.83563	GAA		0.488	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		155	741	0	0	0	1	0	155	741				
CHD4	1108	broad.mit.edu	37	12	6692545	6692545	+	Splice_Site	SNP	C	C	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:6692545C>A	ENST00000357008.2	-	26	4043		c.e26-1		RP5-940J5.6_ENST00000501075.2_RNA|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000309577.6_Splice_Site|CHD4_ENST00000540960.1_Intron	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CCTCTTCCTCCTGGGACAGAG	0.532																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.e26-1		chromodomain helicase DNA binding protein 4							122.0	120.0	121.0					12																	6692545		2203	4300	6503	SO:0001630	splice_region_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6692545C>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3880-1G>T	12.37:g.6692545C>A						CHD4_ENST00000540960.1_Intron|CHD4_ENST00000357008.2_Splice_Site|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544484.1_Splice_Site|CHD4_ENST00000544040.1_Splice_Site				Q14839	CHD4_HUMAN			26	4043	-								Q8IXZ5	Splice_Site	SNP	ENST00000357008.2	37		CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388725	0.61956	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD4	6562806	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.733000	0.68571	2.832000	0.97577	0.655000	0.94253	.		0.532	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	Intron	24	660	1	0	3.5997e-14	1	3.78038e-14	24	660				
BCL11A	53335	broad.mit.edu	37	2	60688255	60688255	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:60688255C>A	ENST00000335712.6	-	4	2019	c.1792G>T	c.(1792-1794)Gac>Tac	p.D598Y	BCL11A_ENST00000537768.1_Missense_Mutation_p.D267Y|BCL11A_ENST00000356842.4_Missense_Mutation_p.D598Y|BCL11A_ENST00000538214.1_Missense_Mutation_p.D564Y|BCL11A_ENST00000358510.4_Missense_Mutation_p.D564Y|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	598					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GTGCCATCGTCTATGCGGTCC	0.697			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(1792-1794)Gac>Tac		B-cell CLL/lymphoma 11A (zinc finger protein)							20.0	24.0	23.0					2																	60688255		2184	4277	6461	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688255C>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1792G>T	2.37:g.60688255C>A	ENSP00000338774:p.Asp598Tyr					BCL11A_ENST00000356842.4_Missense_Mutation_p.D598Y|BCL11A_ENST00000538214.1_Missense_Mutation_p.D564Y|BCL11A_ENST00000537768.1_Missense_Mutation_p.D267Y|BCL11A_ENST00000358510.4_Missense_Mutation_p.D564Y|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron	p.D598Y	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2019	-			598					D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1792G>T	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.952165	0.34471	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000537768;ENST00000335712;ENST00000358510	T;T;T;T;T	0.09163	3.01;3.33;3.2;3.32;3.27	6.01	6.01	0.97437	.	0.234402	0.42172	D	0.000755	T	0.17662	0.0424	L	0.40543	1.245	0.58432	D	0.999994	P;P;P;P;P	0.50710	0.923;0.894;0.763;0.938;0.895	B;B;P;B;P	0.47430	0.442;0.367;0.447;0.328;0.547	T	0.00055	-1.2179	10	0.62326	D	0.03	-3.9852	20.5211	0.99222	0.0:1.0:0.0:0.0	.	564;267;564;598;598	F5H2Y4;B4DT16;Q9H165-6;Q9H165;D9YZV9	.;.;.;BC11A_HUMAN;.	Y	598;623;564;267;598;564	ENSP00000349300:D598Y;ENSP00000438303:D564Y;ENSP00000443712:D267Y;ENSP00000338774:D598Y;ENSP00000351307:D564Y	ENSP00000338774:D598Y	D	-	1	0	BCL11A	60541759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.891000	0.63185	2.861000	0.98227	0.650000	0.86243	GAC		0.697	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		34	188	1	0	2.09667e-21	1	2.24525e-21	34	188				
DLG5	9231	broad.mit.edu	37	10	79589222	79589222	+	Silent	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr10:79589222G>A	ENST00000372391.2	-	12	2081	c.2076C>T	c.(2074-2076)atC>atT	p.I692I	DLG5_ENST00000372388.2_Silent_p.I692I	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	692	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGAGCGCCTTGATGGCCTGCT	0.587																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(2074-2076)atC>atT		discs, large homolog 5 (Drosophila)							195.0	165.0	175.0					10																	79589222		2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79589222G>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2076C>T	10.37:g.79589222G>A						DLG5_ENST00000372388.2_Silent_p.I692I	p.I692I	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		12	2081	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		692			PDZ 1.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.2076C>T	CCDS7353.2																																																																																				0.587	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			25	750	0	0	0	1	0	25	750				
ESPNP	284729	broad.mit.edu	37	1	17033708	17033708	+	RNA	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:17033708A>G	ENST00000492551.1	-	0	696					NR_026567.1				espin pseudogene																		ccttggtaaaaggggtgacga	0.612																																						ENST00000492551.1																			0																																																			0							g.chr1:17033708A>G	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17033708A>G								NR_026567.1						0	696	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.612	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			5	20	0	0	0	1	0	5	20				
SHARPIN	81858	broad.mit.edu	37	8	145154701	145154701	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:145154701C>G	ENST00000398712.2	-	4	1000	c.564G>C	c.(562-564)gaG>gaC	p.E188D	SHARPIN_ENST00000533948.1_5'UTR	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	188	Interaction with SHANK1. {ECO:0000250}.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGCCCCCTTCTCGTCTCCAC	0.637																																						ENST00000398712.2																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7						c.(562-564)gaG>gaC		SHANK-associated RH domain interactor							43.0	50.0	48.0					8																	145154701		2034	4175	6209	SO:0001583	missense	81858				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding	g.chr8:145154701C>G	AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.564G>C	8.37:g.145154701C>G	ENSP00000381698:p.Glu188Asp					SHARPIN_ENST00000533948.1_5'UTR	p.E188D	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		4	1000	-	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		188			Interaction with SHANK1 (By similarity).		A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Missense_Mutation	SNP	ENST00000398712.2	37	c.564G>C	CCDS43777.1	.	.	.	.	.	.	.	.	.	.	C	11.03	1.518604	0.27211	.	.	ENSG00000179526	ENST00000398712;ENST00000359551	T;T	0.34472	1.78;1.36	4.25	4.25	0.50352	.	0.633863	0.16154	N	0.227113	T	0.35008	0.0917	M	0.67953	2.075	0.09310	N	1	P	0.46395	0.877	B	0.37650	0.255	T	0.36187	-0.9758	10	0.46703	T	0.11	.	12.0205	0.53340	0.0:1.0:0.0:0.0	.	188	Q9H0F6	SHRPN_HUMAN	D	188	ENSP00000381698:E188D;ENSP00000352551:E188D	ENSP00000352551:E188D	E	-	3	2	SHARPIN	145226689	0.000000	0.05858	0.022000	0.16811	0.642000	0.38348	-0.083000	0.11286	2.207000	0.71202	0.462000	0.41574	GAG		0.637	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382901.1	NM_030974		44	379	0	0	0	1	0	44	379				
SLITRK3	22865	broad.mit.edu	37	3	164908435	164908435	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:164908435C>T	ENST00000475390.1	-	2	627	c.184G>A	c.(184-186)Gac>Aac	p.D62N	SLITRK3_ENST00000241274.3_Missense_Mutation_p.D62N			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	62					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTTTACTGTCACAATGTATA	0.373										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(184-186)Gac>Aac		SLIT and NTRK-like family, member 3							98.0	101.0	100.0					3																	164908435		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164908435C>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.184G>A	3.37:g.164908435C>T	ENSP00000420091:p.Asp62Asn	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.D62N	p.D62N			O94933	SLIK3_HUMAN			2	627	-			62					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.184G>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325014	0.81580	.	.	ENSG00000121871	ENST00000475390;ENST00000241274;ENST00000497724	T;T;D	0.83506	0.67;0.67;-1.73	6.11	6.11	0.99139	.	0.000000	0.40064	N	0.001194	D	0.87474	0.6186	L	0.29908	0.895	0.58432	D	0.999998	D	0.63880	0.993	D	0.74674	0.984	D	0.87135	0.2199	10	0.56958	D	0.05	-26.058	20.7342	0.99715	0.0:1.0:0.0:0.0	.	62	O94933	SLIK3_HUMAN	N	62	ENSP00000420091:D62N;ENSP00000241274:D62N;ENSP00000419611:D62N	ENSP00000241274:D62N	D	-	1	0	SLITRK3	166391129	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.906000	0.99361	0.655000	0.94253	GAC		0.373	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		61	505	0	0	0	1	0	61	505				
SLC45A4	57210	broad.mit.edu	37	8	142222650	142222650	+	Missense_Mutation	SNP	G	G	C	rs372268272		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:142222650G>C	ENST00000024061.3	-	7	2101	c.1794C>G	c.(1792-1794)atC>atG	p.I598M	SLC45A4_ENST00000519067.1_Missense_Mutation_p.I598M|SLC45A4_ENST00000517878.1_Missense_Mutation_p.I649M|SLC45A4_ENST00000433583.2_Missense_Mutation_p.I591M	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGCTGTGGTGGATGTACTGCA	0.567																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1792-1794)atC>atG		solute carrier family 45, member 4		G	MET/ILE	1,4405	2.1+/-5.4	0,1,2202	43.0	47.0	46.0		1794	-5.7	0.5	8		46	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC45A4	NM_001080431.1	10	0,2,6501	CC,CG,GG		0.0116,0.0227,0.0154	benign	598/799	142222650	2,13004	2203	4300	6503	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142222650G>C	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1794C>G	8.37:g.142222650G>C	ENSP00000024061:p.Ile598Met					SLC45A4_ENST00000517878.1_Missense_Mutation_p.I649M|SLC45A4_ENST00000433583.2_Missense_Mutation_p.I591M|SLC45A4_ENST00000024061.3_Missense_Mutation_p.I598M	p.I598M			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		7	2097	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		649					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.1794C>G	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649682	0.29336	2.27E-4	1.16E-4	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.15718	2.42;2.41;2.41;2.4	4.96	-5.67	0.02444	.	0.431121	0.24978	N	0.034084	T	0.15955	0.0384	L	0.40543	1.245	0.37636	D	0.92185	P;P;P	0.52170	0.756;0.951;0.842	B;P;P	0.51516	0.352;0.672;0.554	T	0.09952	-1.0651	10	0.48119	T	0.1	-36.1766	9.3309	0.38021	0.2522:0.4998:0.248:0.0	.	649;598;598	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	M	598;649;591;598	ENSP00000429059:I598M;ENSP00000428137:I649M;ENSP00000400799:I591M;ENSP00000024061:I598M	ENSP00000024061:I598M	I	-	3	3	SLC45A4	142291832	0.040000	0.19996	0.457000	0.27056	0.275000	0.26752	-0.578000	0.05841	-0.748000	0.04753	-0.245000	0.11935	ATC		0.567	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		11	204	0	0	0	1	0	11	204				
C17orf47	284083	broad.mit.edu	37	17	56620313	56620313	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:56620313G>T	ENST00000321691.3	-	1	1416	c.1235C>A	c.(1234-1236)cCc>cAc	p.P412H	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000457347.2_5'Flank|SEPT4_ENST00000412945.3_5'Flank|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	412										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGAGGCAAGGGCCTAGGGGT	0.547																																						ENST00000321691.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1234-1236)cCc>cAc		chromosome 17 open reading frame 47							137.0	132.0	134.0					17																	56620313		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56620313G>T		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.1235C>A	17.37:g.56620313G>T	ENSP00000354874:p.Pro412His					RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	p.P412H	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN			1	1416	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		412					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.1235C>A	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.832788	0.71258	.	.	ENSG00000181013	ENST00000321691	T	0.66099	-0.19	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000006	T	0.70996	0.3288	L	0.34521	1.04	0.39463	D	0.967593	D	0.89917	1.0	D	0.97110	1.0	T	0.74234	-0.3731	10	0.87932	D	0	-15.4301	15.5506	0.76148	0.0:0.0:1.0:0.0	.	412	Q8NEP4	CQ047_HUMAN	H	412	ENSP00000354874:P412H	ENSP00000354874:P412H	P	-	2	0	C17orf47	53975312	0.999000	0.42202	1.000000	0.80357	0.769000	0.43574	3.256000	0.51492	2.739000	0.93911	0.561000	0.74099	CCC		0.547	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		58	567	1	0	1.19403e-26	1	1.30959e-26	58	567				
OPRL1	4987	broad.mit.edu	37	20	62729444	62729444	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr20:62729444T>A	ENST00000349451.3	+	5	935	c.523T>A	c.(523-525)Tgg>Agg	p.W175R	OPRL1_ENST00000355631.4_Missense_Mutation_p.W175R|OPRL1_ENST00000336866.2_Missense_Mutation_p.W175R	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	175					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGTGGCCATCTGGGCCCTGGC	0.627																																						ENST00000349451.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(523-525)Tgg>Agg		opiate receptor-like 1							97.0	86.0	90.0					20																	62729444		2203	4296	6499	SO:0001583	missense	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729444T>A		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.523T>A	20.37:g.62729444T>A	ENSP00000336764:p.Trp175Arg					OPRL1_ENST00000355631.4_Missense_Mutation_p.W175R|OPRL1_ENST00000336866.2_Missense_Mutation_p.W175R	p.W175R	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN			5	935	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		175					Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	ENST00000349451.3	37	c.523T>A	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.796426	0.70567	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	D;D;D	0.88896	-2.44;-2.44;-2.44	5.0	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.062472	0.64402	N	0.000001	D	0.96864	0.8976	H	0.99697	4.71	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.96110	0.9076	10	0.87932	D	0	.	10.6469	0.45626	0.0:0.0765:0.0:0.9235	.	170;175	P41146-2;P41146	.;OPRX_HUMAN	R	175	ENSP00000336843:W175R;ENSP00000347848:W175R;ENSP00000336764:W175R	ENSP00000336843:W175R	W	+	1	0	OPRL1	62199888	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	4.942000	0.63547	0.764000	0.33197	0.369000	0.22263	TGG		0.627	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		49	488	0	0	0	1	0	49	488				
C1QL3	389941	broad.mit.edu	37	10	16562659	16562659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr10:16562659G>A	ENST00000298943.3	-	1	1345	c.406C>T	c.(406-408)Cag>Tag	p.Q136*		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	136	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCTTCATGCTGCCGCTTGAGG	0.687																																						ENST00000298943.3																			0				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(406-408)Cag>Tag		complement component 1, q subcomponent-like 3							127.0	106.0	113.0					10																	16562659		2203	4300	6503	SO:0001587	stop_gained	389941					collagen		g.chr10:16562659G>A		CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.406C>T	10.37:g.16562659G>A	ENSP00000298943:p.Gln136*						p.Q136*	NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN			1	1345	-			136			C1q.		A0PJY4|A0PJY5	Nonsense_Mutation	SNP	ENST00000298943.3	37	c.406C>T	CCDS31156.1	.	.	.	.	.	.	.	.	.	.	G	44	10.640110	0.99442	.	.	ENSG00000165985	ENST00000298943;ENST00000448557	.	.	.	3.56	3.56	0.40772	.	0.194179	0.44902	D	0.000410	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	15.3	0.73940	0.0:0.0:1.0:0.0	.	.	.	.	X	136;113	.	ENSP00000298943:Q136X	Q	-	1	0	C1QL3	16602665	1.000000	0.71417	1.000000	0.80357	0.469000	0.32828	7.685000	0.84117	1.992000	0.58205	0.637000	0.83480	CAG		0.687	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305		12	318	0	0	0	1	0	12	318				
SMARCA1	6594	broad.mit.edu	37	X	128624058	128624058	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:128624058C>T	ENST00000371122.4	-	15	2056	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	SMARCA1_ENST00000371123.1_Missense_Mutation_p.D631N|SMARCA1_ENST00000371121.3_Missense_Mutation_p.D631N	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	643	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ACAATTGAATCGAGTCTCAGT	0.328																																						ENST00000371122.4																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						c.(1927-1929)Gat>Aat		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1							114.0	96.0	102.0					X																	128624058		2203	4300	6503	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128624058C>T	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1927G>A	X.37:g.128624058C>T	ENSP00000360163:p.Asp643Asn					SMARCA1_ENST00000371121.3_Missense_Mutation_p.D631N|SMARCA1_ENST00000371123.1_Missense_Mutation_p.D631N	p.D643N	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN			15	2056	-			643			Helicase C-terminal.		Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.1927G>A	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153859	0.94645	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76	5.23	5.23	0.72850	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000002	D	0.97253	0.9102	M	0.62088	1.915	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.995;0.998;0.995	D	0.98047	1.0385	10	0.87932	D	0	-17.4212	18.1631	0.89716	0.0:1.0:0.0:0.0	.	622;643;631;643	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	N	631;631;643;622	ENSP00000360162:D631N;ENSP00000360164:D631N;ENSP00000360163:D643N;ENSP00000404275:D622N	ENSP00000360162:D631N	D	-	1	0	SMARCA1	128451739	1.000000	0.71417	0.992000	0.48379	0.972000	0.66771	7.776000	0.85560	2.313000	0.78055	0.523000	0.50628	GAT		0.328	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		26	84	0	0	0	1	0	26	84				
SNX24	28966	broad.mit.edu	37	5	122272452	122272452	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:122272452G>C	ENST00000261369.4	+	2	269	c.84G>C	c.(82-84)atG>atC	p.M28I	SNX24_ENST00000395451.4_Missense_Mutation_p.M61I|SNX24_ENST00000511211.1_3'UTR|SNX24_ENST00000513881.1_Missense_Mutation_p.M28I|SNX24_ENST00000506996.1_Missense_Mutation_p.M28I	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	28	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		AAGTGCTAATGAATGGAAGAA	0.313																																						ENST00000261369.4																			0				lung(5)	5						c.(82-84)atG>atC		sorting nexin 24							108.0	101.0	103.0					5																	122272452		2203	4299	6502	SO:0001583	missense	28966				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr5:122272452G>C	AF139461	CCDS4132.1	5q23.2	2008-03-11	2007-08-15		ENSG00000064652	ENSG00000064652		"""Sorting nexins"""	21533	protein-coding gene	gene with protein product						12461558	Standard	NM_014035		Approved	SBBI31	uc011cwo.2	Q9Y343	OTTHUMG00000128913	ENST00000261369.4:c.84G>C	5.37:g.122272452G>C	ENSP00000261369:p.Met28Ile					SNX24_ENST00000395451.4_Missense_Mutation_p.M61I|SNX24_ENST00000513881.1_Missense_Mutation_p.M28I|SNX24_ENST00000506996.1_Missense_Mutation_p.M28I|SNX24_ENST00000511211.1_3'UTR	p.M28I	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)	2	269	+		Prostate(80;0.0387)	28			PX.		Q6UY33	Missense_Mutation	SNP	ENST00000261369.4	37	c.84G>C	CCDS4132.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082045	0.36758	.	.	ENSG00000064652	ENST00000261369;ENST00000513881;ENST00000395451;ENST00000506996	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.69	5.69	0.88448	Phox homologous domain (5);	0.103032	0.85682	D	0.000000	T	0.25082	0.0609	N	0.11284	0.12	0.53688	D	0.99997	B;B	0.19073	0.033;0.005	B;B	0.17098	0.017;0.015	T	0.09122	-1.0689	10	0.19590	T	0.45	-12.9133	14.3626	0.66782	0.0706:0.0:0.9294:0.0	.	28;28	Q9Y343;Q9Y343-2	SNX24_HUMAN;.	I	28;28;61;28	ENSP00000261369:M28I;ENSP00000424149:M28I;ENSP00000378837:M61I;ENSP00000422535:M28I	ENSP00000261369:M28I	M	+	3	0	SNX24	122300351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.323000	0.72891	2.840000	0.97914	0.655000	0.94253	ATG		0.313	SNX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250885.2	NM_014035		49	172	0	0	0	1	0	49	172				
MT-CYB	4519	broad.mit.edu	37	M	15607	15607	+	Silent	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:15607A>G	ENST00000361789.2	+	1	861	c.861A>G	c.(859-861)aaA>aaG	p.K287K	MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TP_ENST00000387461.2_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	287					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						GTCCCTAACAAACTAGGAGGC	0.453											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000361789.2																			0				breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						c.(859-861)aaA>aaG		mitochondrially encoded cytochrome b																																				SO:0001819	synonymous_variant	4519							g.chrM:15607A>G			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.861A>G	M.37:g.15607A>G			OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	585		p.287_287insK							1	861	+								Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	ENST00000361789.2	37	c.861A>G																																																																																					0.453	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024038		10	60	0	0	0	1	0	10	60				
TAPT1-AS1	202020	broad.mit.edu	37	4	16258063	16258063	+	RNA	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:16258063G>A	ENST00000570786.1	+	0	418				TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA	NR_027696.1				TAPT1 antisense RNA 1 (head to head)																		GACCTTGTCAGCCTCGGCCAC	0.547																																						ENST00000570786.1																			0																																																			0							g.chr4:16258063G>A			4p15.32	2012-11-06	2012-11-06		ENSG00000263327	ENSG00000263327		"""Long non-coding RNAs"""	26832	non-coding RNA	RNA, long non-coding							Standard	NR_027696		Approved	FLJ39653			OTTHUMG00000160321		4.37:g.16258063G>A						TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA		NR_027696.1						0	418	+									RNA	SNP	ENST00000570786.1	37																																																																																						0.547	TAPT1-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000439459.1	NR_027696		16	218	0	0	0	1	0	16	218				
MT-ATP6	4508	broad.mit.edu	37	M	9117	9117	+	Silent	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:9117T>C	ENST00000361899.2	+	1	591	c.591T>C	c.(589-591)atT>atC	p.I197I	MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-ND4_ENST00000361381.2_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TR_ENST00000387439.1_RNA			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	197					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						ACAATTCTAATTCTACTGACT	0.443																																						ENST00000361899.2																			0				breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						c.(589-591)atT>atC		mitochondrially encoded ATP synthase 6																																				SO:0001819	synonymous_variant	4508							g.chrM:9117T>C			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.591T>C	M.37:g.9117T>C							p.I197I							1	591	+								Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Silent	SNP	ENST00000361899.2	37	c.591T>C																																																																																					0.443	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024031		5	60	0	0	0	1	0	5	60				
MT-ND4	4538	broad.mit.edu	37	M	11764	11764	+	Silent	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:11764A>G	ENST00000361381.2	+	1	1005	c.1005A>G	c.(1003-1005)gaA>gaG	p.E335E	MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TR_ENST00000387439.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	335					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						TCAAACTACGAACGCACTCAC	0.483																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(1003-1005)gaA>gaG		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001819	synonymous_variant	4538							g.chrM:11764A>G			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.1005A>G	M.37:g.11764A>G							p.335_335insE							1	1005	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.1005A>G																																																																																					0.483	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		11	115	0	0	0	1	0	11	115				
ZRANB3	84083	broad.mit.edu	37	2	135988368	135988368	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:135988368T>C	ENST00000264159.6	-	13	1785	c.1669A>G	c.(1669-1671)Aca>Gca	p.T557A	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.T557A|ZRANB3_ENST00000401392.1_Missense_Mutation_p.T557A	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	557					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GCTGTTTTTGTAGGGTCTGAT	0.413																																						ENST00000401392.1																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(1669-1671)Aca>Gca		zinc finger, RAN-binding domain containing 3							148.0	142.0	144.0					2																	135988368		1890	4117	6007	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135988368T>C	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1669A>G	2.37:g.135988368T>C	ENSP00000264159:p.Thr557Ala					ZRANB3_ENST00000536680.1_Missense_Mutation_p.T557A|ZRANB3_ENST00000264159.6_Missense_Mutation_p.T557A|ZRANB3_ENST00000412849.1_5'UTR	p.T557A			Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	13	1881	-			557					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.1669A>G	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	T	2.144	-0.396008	0.04899	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.90563	-2.69;-2.69;-2.67	5.5	0.8	0.18672	.	1.127580	0.06294	N	0.699719	T	0.81049	0.4742	N	0.24115	0.695	0.09310	N	1	B;B	0.18310	0.016;0.027	B;B	0.17979	0.014;0.02	T	0.64162	-0.6472	10	0.09843	T	0.71	-1.9716	5.2144	0.15334	0.0:0.4531:0.1793:0.3676	.	557;557	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	A	22;22;557;557;557	ENSP00000383979:T557A;ENSP00000264159:T557A;ENSP00000441320:T557A	ENSP00000264159:T557A	T	-	1	0	ZRANB3	135704838	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-0.242000	0.08928	0.121000	0.18284	-0.371000	0.07208	ACA		0.413	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		33	415	0	0	0	1	0	33	415				
COMMD8	54951	broad.mit.edu	37	4	47462175	47462175	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:47462175A>C	ENST00000381571.4	-	2	275	c.208T>G	c.(208-210)Tta>Gta	p.L70V		NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN	COMM domain containing 8	70										large_intestine(2)|lung(5)|prostate(1)	8						TCATCAGGTAAGTTTTTACCA	0.343																																						ENST00000381571.4																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(208-210)Tta>Gta		COMM domain containing 8							102.0	106.0	105.0					4																	47462175		2203	4300	6503	SO:0001583	missense	54951						protein binding	g.chr4:47462175A>C	AY542163	CCDS3475.1	4p12	2008-02-05			ENSG00000169019	ENSG00000169019			26036	protein-coding gene	gene with protein product						15799966	Standard	NM_017845		Approved	FLJ20502	uc003gxi.3	Q9NX08	OTTHUMG00000099435	ENST00000381571.4:c.208T>G	4.37:g.47462175A>C	ENSP00000370984:p.Leu70Val						p.L70V	NM_017845.3	NP_060315.1	Q9NX08	COMD8_HUMAN			2	275	-			70					Q8WUR4|Q9HC15	Missense_Mutation	SNP	ENST00000381571.4	37	c.208T>G	CCDS3475.1	.	.	.	.	.	.	.	.	.	.	A	1.293	-0.606993	0.03717	.	.	ENSG00000169019	ENST00000381571	T	0.09163	3.01	5.48	-0.28	0.12886	.	0.649849	0.15783	N	0.244813	T	0.03827	0.0108	N	0.17474	0.49	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.41980	-0.9478	10	0.02654	T	1	-13.9887	1.6707	0.02811	0.3234:0.3696:0.1699:0.137	.	70	Q9NX08	COMD8_HUMAN	V	70	ENSP00000370984:L70V	ENSP00000370984:L70V	L	-	1	2	COMMD8	47156932	0.001000	0.12720	0.986000	0.45419	0.274000	0.26718	-0.138000	0.10374	0.352000	0.24053	-0.346000	0.07831	TTA		0.343	COMMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216898.2	NM_017845		58	397	0	0	0	1	0	58	397				
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																						ENST00000546471.1																			0																																																			0							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A														0	1601	-								A8K6T4|B3KWX9|O75704	RNA	SNP	ENST00000546471.1	37																																																																																						0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		10	104	0	0	0	1	0	10	104				
MT-ND2	4536	broad.mit.edu	37	M	1811	1811	+	5'Flank	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:1811A>G	ENST00000361453.3	+	0	0				MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						TGAAAAATTATAACCAAGCAT	0.378																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:1811A>G			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.1811A>G	Exception_encountered							NR_039705.1						0	141	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.378	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		7	87	0	0	0	1	0	7	87				
TDG	6996	broad.mit.edu	37	12	104373759	104373759	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:104373759G>A	ENST00000392872.3	+	3	551	c.317G>A	c.(316-318)aGa>aAa	p.R106K	TDG_ENST00000542036.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.R102K|TDG_ENST00000544861.1_5'UTR	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	106					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AAAGTAAAAAGAAAAGTAGAC	0.353								Base excision repair (BER), DNA glycosylases																														ENST00000392872.3																			0				large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(316-318)aGa>aAa	Base excision repair (BER), DNA glycosylases	thymine-DNA glycosylase							68.0	65.0	66.0					12																	104373759		2203	4300	6503	SO:0001583	missense	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104373759G>A	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.317G>A	12.37:g.104373759G>A	ENSP00000376611:p.Arg106Lys					TDG_ENST00000544861.1_5'UTR|TDG_ENST00000542036.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.R102K	p.R106K	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	3	551	+			106					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.317G>A	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187914	0.78789	.	.	ENSG00000139372	ENST00000392872;ENST00000436021;ENST00000266775;ENST00000537100	T;T;T	0.46451	2.06;2.06;0.87	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.59729	0.2215	L	0.58669	1.825	0.80722	D	1	D;P;P	0.89917	1.0;0.518;0.518	D;B;B	0.83275	0.996;0.443;0.443	T	0.53114	-0.8484	10	0.14252	T	0.57	-10.642	18.4652	0.90752	0.0:0.0:1.0:0.0	.	106;106;106	B4DSN7;B2R848;Q13569	.;.;TDG_HUMAN	K	106;81;102;106	ENSP00000376611:R106K;ENSP00000266775:R102K;ENSP00000439825:R106K	ENSP00000266775:R102K	R	+	2	0	TDG	102897889	1.000000	0.71417	0.932000	0.37286	0.977000	0.68977	9.042000	0.93793	2.348000	0.79779	0.557000	0.71058	AGA		0.353	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			29	294	0	0	0	1	0	29	294				
FASN	2194	broad.mit.edu	37	17	80049208	80049208	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:80049208G>A	ENST00000306749.2	-	9	1600	c.1382C>T	c.(1381-1383)cCc>cTc	p.P461L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	461	Acyl and malonyl transferases. {ECO:0000250}.			AVPA -> LSPT (in Ref. 2; AAA73576). {ECO:0000305}.	acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GGCGGTGGCGGGGACAGCCGC	0.701																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(1381-1383)cCc>cTc		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						15.0	19.0	17.0					17																	80049208		2184	4282	6466	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80049208G>A	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.1382C>T	17.37:g.80049208G>A	ENSP00000304592:p.Pro461Leu						p.P461L	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		9	1600	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		461	AVPA -> LSPT (in Ref. 2; AAA73576).		Acyl and malonyl transferases (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.1382C>T	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231188	0.58777	.	.	ENSG00000169710	ENST00000306749	T	0.25414	1.8	4.41	4.41	0.53225	.	0.269718	0.36482	N	0.002567	T	0.35740	0.0942	L	0.28776	0.89	0.43902	D	0.996533	D	0.65815	0.995	P	0.58820	0.846	T	0.21484	-1.0244	10	0.62326	D	0.03	-5.7597	17.1601	0.86802	0.0:0.0:1.0:0.0	.	461	P49327	FAS_HUMAN	L	461	ENSP00000304592:P461L	ENSP00000304592:P461L	P	-	2	0	FASN	77642497	1.000000	0.71417	0.003000	0.11579	0.001000	0.01503	7.495000	0.81514	2.298000	0.77334	0.484000	0.47621	CCC		0.701	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		15	87	0	0	0	1	0	15	87				
SLC25A13	10165	broad.mit.edu	37	7	95818665	95818665	+	Silent	SNP	G	G	T	rs142308242		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr7:95818665G>T	ENST00000265631.5	-	9	1010	c.874C>A	c.(874-876)Cgg>Agg	p.R292R	SLC25A13_ENST00000416240.2_Silent_p.R292R|SLC25A13_ENST00000542654.1_Silent_p.R184R			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	292					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GGAGCAATCCGTTCAATGTCT	0.408																																						ENST00000416240.2																			0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(874-876)Cgg>Agg		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						94.0	92.0	93.0					7																	95818665		2203	4300	6503	SO:0001819	synonymous_variant	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95818665G>T	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.874C>A	7.37:g.95818665G>T						SLC25A13_ENST00000265631.5_Silent_p.R292R|SLC25A13_ENST00000542654.1_Silent_p.R184R	p.R292R	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		9	1064	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		292					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Silent	SNP	ENST00000265631.5	37	c.874C>A	CCDS5645.1																																																																																				0.408	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251		31	148	1	0	9.17885e-22	1	9.86817e-22	31	148				
EHBP1L1	254102	broad.mit.edu	37	11	65351822	65351822	+	Missense_Mutation	SNP	C	C	G	rs533123747	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:65351822C>G	ENST00000309295.4	+	10	3469	c.3204C>G	c.(3202-3204)aaC>aaG	p.N1068K		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1068	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCTGGCGCAACGGCTTGGCCT	0.622																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(3202-3204)aaC>aaG		EH domain binding protein 1-like 1							62.0	70.0	67.0					11																	65351822		2171	4266	6437	SO:0001583	missense	254102							g.chr11:65351822C>G	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.3204C>G	11.37:g.65351822C>G	ENSP00000312671:p.Asn1068Lys						p.N1068K	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			10	3469	+			1068			CH.		Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.3204C>G	CCDS44649.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.82|19.82	3.897825|3.897825	0.72639|0.72639	.|.	.|.	ENSG00000173442|ENSG00000173442	ENST00000309295;ENST00000533237|ENST00000533465	D;D|.	0.95724|.	-3.79;-3.79|.	5.31|5.31	0.137|0.137	0.14787|0.14787	Calponin homology domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78444|0.78444	0.4284|0.4284	M|M	0.93720|0.93720	3.45|3.45	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.77574|0.77574	-0.2537|-0.2537	10|5	0.87932|.	D|.	0|.	.|.	8.6876|8.6876	0.34247|0.34247	0.0:0.4974:0.0:0.5026|0.0:0.4974:0.0:0.5026	.|.	485;1068|.	E9PIH6;Q8N3D4|.	.;EH1L1_HUMAN|.	K|G	1068;485|118	ENSP00000312671:N1068K;ENSP00000431996:N485K|.	ENSP00000312671:N1068K|.	N|R	+|+	3|1	2|2	EHBP1L1|EHBP1L1	65108398|65108398	0.001000|0.001000	0.12720|0.12720	0.984000|0.984000	0.44739|0.44739	0.985000|0.985000	0.73830|0.73830	-1.676000|-1.676000	0.01946|0.01946	-0.226000|-0.226000	0.09899|0.09899	0.561000|0.561000	0.74099|0.74099	AAC|CGG		0.622	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		16	415	0	0	0	1	0	16	415				
MT-ND4	4538	broad.mit.edu	37	M	11812	11812	+	Silent	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:11812A>G	ENST00000361381.2	+	1	1053	c.1053A>G	c.(1051-1053)ctA>ctG	p.L351L	MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TR_ENST00000387439.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	351					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						CTTCAAACTCTACTCCCACTA	0.473																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(1051-1053)ctA>ctG		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001819	synonymous_variant	4538							g.chrM:11812A>G			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.1053A>G	M.37:g.11812A>G							p.351_351insL							1	1053	+								Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	37	c.1053A>G																																																																																					0.473	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		38	85	0	0	0	1	0	38	85				
PPOX	5498	broad.mit.edu	37	1	161139773	161139773	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:161139773G>T	ENST00000367999.4	+	9	1212	c.946G>T	c.(946-948)Gtg>Ttg	p.V316L	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.V316L|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000495483.1_3'UTR|B4GALT3_ENST00000470882.1_5'Flank	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	316					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTCTGTAGCTGTGGTGAATCT	0.577																																						ENST00000367999.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15						c.(946-948)Gtg>Ttg		protoporphyrinogen oxidase							72.0	62.0	66.0					1																	161139773		2203	4300	6503	SO:0001583	missense	5498				heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161139773G>T	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.946G>T	1.37:g.161139773G>T	ENSP00000356978:p.Val316Leu					PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.V316L|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron	p.V316L	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		9	1212	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		316					D3DVG0|Q5VTW8	Missense_Mutation	SNP	ENST00000367999.4	37	c.946G>T	CCDS1221.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401786	0.83120	.	.	ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935	D;D	0.92805	-3.11;-3.11	5.43	5.43	0.79202	Amine oxidase (1);	0.060479	0.64402	D	0.000004	D	0.88753	0.6522	L	0.38838	1.175	0.80722	D	1	P;D;P	0.54047	0.506;0.964;0.618	P;P;B	0.51101	0.534;0.659;0.357	D	0.88229	0.2902	10	0.41790	T	0.15	-15.1906	14.6179	0.68562	0.0:0.0:1.0:0.0	.	283;154;316	B4DY76;B3KT30;P50336	.;.;PPOX_HUMAN	L	316;316;283	ENSP00000343943:V316L;ENSP00000356978:V316L	ENSP00000343943:V316L	V	+	1	0	PPOX	159406397	1.000000	0.71417	0.972000	0.41901	0.996000	0.88848	7.018000	0.76406	2.823000	0.97156	0.650000	0.86243	GTG		0.577	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1	NM_000309		19	187	1	0	8.28177e-16	1	8.73117e-16	19	187				
NACA2	342538	broad.mit.edu	37	17	59668536	59668536	+	Silent	SNP	C	C	G	rs112308210		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:59668536C>G	ENST00000521764.1	-	1	27	c.6G>C	c.(4-6)ccG>ccC	p.P2P		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	2					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TGGCTTCGCCCGGCATTTTGT	0.577																																						ENST00000521764.1																			0				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(4-6)ccG>ccC		nascent polypeptide-associated complex alpha subunit 2							51.0	48.0	49.0					17																	59668536		2203	4300	6503	SO:0001819	synonymous_variant	342538				protein transport	cytoplasm|nucleus		g.chr17:59668536C>G	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.6G>C	17.37:g.59668536C>G							p.P2P	NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN			1	27	-	all_epithelial(1;3.12e-14)		2					Q2VIR9	Silent	SNP	ENST00000521764.1	37	c.6G>C	CCDS11630.1																																																																																				0.577	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	NM_199290		13	382	0	0	0	1	0	13	382				
OR10K2	391107	broad.mit.edu	37	1	158390123	158390123	+	Silent	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:158390123G>A	ENST00000314902.2	-	1	533	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CAATGTCACAGAAGAAGTGAT	0.463																																						ENST00000314902.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(532-534)ttC>ttT		olfactory receptor, family 10, subfamily K, member 2							158.0	139.0	146.0					1																	158390123		2203	4300	6503	SO:0001819	synonymous_variant	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390123G>A	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.534C>T	1.37:g.158390123G>A							p.F178F	NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN			1	533	-	all_hematologic(112;0.0378)		178						Silent	SNP	ENST00000314902.2	37	c.534C>T	CCDS30896.1																																																																																				0.463	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		91	470	0	0	0	1	0	91	470				
PLK4	10733	broad.mit.edu	37	4	128804674	128804674	+	Silent	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:128804674A>G	ENST00000270861.5	+	4	577	c.303A>G	c.(301-303)ctA>ctG	p.L101L	PLK4_ENST00000513090.1_Silent_p.L69L|PLK4_ENST00000507249.1_Silent_p.L101L|PLK4_ENST00000515069.1_Silent_p.L101L|PLK4_ENST00000514379.1_Silent_p.L60L	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	101	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				centriole replication (GO:0007099)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of centriole replication (GO:0046601)|protein phosphorylation (GO:0006468)|trophoblast giant cell differentiation (GO:0060707)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						ACAGGTATCTAAAGAATAGAG	0.323																																					Colon(135;508 1718 19061 31832 42879)	ENST00000270861.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(301-303)ctA>ctG		polo-like kinase 4							60.0	65.0	63.0					4																	128804674		2201	4294	6495	SO:0001819	synonymous_variant	0				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:128804674A>G	Y13115	CCDS3735.1, CCDS54803.1, CCDS54804.1	4q27-q28	2013-01-18	2010-06-24	2004-01-28	ENSG00000142731	ENSG00000142731			11397	protein-coding gene	gene with protein product		605031	"""serine/threonine kinase 18"", ""polo-like kinase 4 (Drosophila)"""	STK18			Standard	NM_014264		Approved	Sak	uc003ifo.3	O00444	OTTHUMG00000133301	ENST00000270861.5:c.303A>G	4.37:g.128804674A>G						PLK4_ENST00000507249.1_Silent_p.L101L|PLK4_ENST00000513090.1_Silent_p.L69L|PLK4_ENST00000514379.1_Silent_p.L60L|PLK4_ENST00000515069.1_Silent_p.L101L	p.L101L	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN			4	577	+			101			Protein kinase.		B2RAL0|B7Z837|B7Z8G7|Q8IYF0|Q96Q95|Q9UD84|Q9UDE2	Silent	SNP	ENST00000270861.5	37	c.303A>G	CCDS3735.1																																																																																				0.323	PLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257095.3			86	257	0	0	0	1	0	86	257				
RAB3GAP2	25782	broad.mit.edu	37	1	220326745	220326745	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:220326745A>C	ENST00000358951.2	-	33	3765	c.3649T>G	c.(3649-3651)Tta>Gta	p.L1217V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1217					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)	p.L1217V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		ACTTTCAATAAGAACTTGAAA	0.408																																						ENST00000358951.2																			1	Substitution - Missense(1)	p.L1217V(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(3649-3651)Tta>Gta		RAB3 GTPase activating protein subunit 2 (non-catalytic)							115.0	115.0	115.0					1																	220326745		2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220326745A>C	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.3649T>G	1.37:g.220326745A>C	ENSP00000351832:p.Leu1217Val						p.L1217V	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	33	3765	-			1217					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.3649T>G	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.816980	0.70912	.	.	ENSG00000118873	ENST00000358951	T	0.61627	0.09	5.69	3.39	0.38822	.	0.080791	0.49916	D	0.000135	T	0.64249	0.2581	L	0.36672	1.1	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.63510	-0.6621	10	0.66056	D	0.02	.	9.892	0.41296	0.8627:0.0:0.1373:0.0	.	1217;1217	Q9H2M9;A6H8V0	RBGPR_HUMAN;.	V	1217	ENSP00000351832:L1217V	ENSP00000351832:L1217V	L	-	1	2	RAB3GAP2	218393368	1.000000	0.71417	0.938000	0.37757	0.963000	0.63663	0.975000	0.29449	0.538000	0.28769	0.529000	0.55759	TTA		0.408	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		80	370	0	0	0	1	0	80	370				
KAT6A	7994	broad.mit.edu	37	8	41834718	41834718	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:41834718C>G	ENST00000396930.3	-	8	1714	c.1171G>C	c.(1171-1173)Gac>Cac	p.D391H	KAT6A_ENST00000485568.1_Missense_Mutation_p.D391H|KAT6A_ENST00000265713.2_Missense_Mutation_p.D391H|KAT6A_ENST00000406337.1_Missense_Mutation_p.D391H	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	391	Interaction with PML.|Interaction with RUNX1-1.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CTGCAGAAGTCCAAGCCATCT	0.453																																						ENST00000396930.3																			0											c.(1171-1173)Gac>Cac		K(lysine) acetyltransferase 6A							129.0	117.0	121.0					8																	41834718		2203	4299	6502	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41834718C>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.1171G>C	8.37:g.41834718C>G	ENSP00000380136:p.Asp391His					KAT6A_ENST00000265713.2_Missense_Mutation_p.D391H|KAT6A_ENST00000406337.1_Missense_Mutation_p.D391H|KAT6A_ENST00000485568.1_Missense_Mutation_p.D391H	p.D391H	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			8	1714	-			391			Interaction with RUNX1-1.		Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.1171G>C	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056858	0.36277	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.84370	0.21;0.21;0.21;-1.84	5.37	5.37	0.77165	.	0.152609	0.44902	D	0.000402	D	0.82811	0.5118	N	0.24115	0.695	0.29750	N	0.836435	P;D	0.58620	0.641;0.983	B;P	0.49708	0.125;0.62	T	0.80084	-0.1530	10	0.42905	T	0.14	-12.106	19.1648	0.93551	0.0:1.0:0.0:0.0	.	391;391	A5PLL3;Q92794	.;KAT6A_HUMAN	H	391	ENSP00000265713:D391H;ENSP00000385888:D391H;ENSP00000380136:D391H;ENSP00000430606:D391H	ENSP00000265713:D391H	D	-	1	0	KAT6A	41953875	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.550000	0.53691	2.505000	0.84491	0.650000	0.86243	GAC		0.453	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		47	491	0	0	0	1	0	47	491				
MT-ND2	4536	broad.mit.edu	37	M	2141	2141	+	5'Flank	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:2141T>C	ENST00000361453.3	+	0	0				MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						GAAAAAACCTTGTAGAGAGAG	0.383																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:2141T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2141T>C	Exception_encountered							NR_039705.1						0	471	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.383	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		13	104	0	0	0	1	0	13	104				
RPLP0P6	220717	broad.mit.edu	37	2	38709079	38709079	+	lincRNA	SNP	C	C	T	rs111340107		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:38709079C>T	ENST00000417039.1	-	0	696																											AATGTTTCATCGTGGGAGCAG	0.537																																						ENST00000417039.1																			0																																																			0							g.chr2:38709079C>T																													2.37:g.38709079C>T														0	696	-									RNA	SNP	ENST00000417039.1	37																																																																																						0.537	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			20	171	0	0	0	1	0	20	171				
ZIC5	85416	broad.mit.edu	37	13	100617947	100617947	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr13:100617947T>A	ENST00000267294.4	-	2	1909	c.1676A>T	c.(1675-1677)gAc>gTc	p.D559V		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	559					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTAGGATTTGTCACAGCCTCG	0.522																																						ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1675-1677)gAc>gTc		Zic family member 5							203.0	177.0	186.0					13																	100617947		2203	4300	6503	SO:0001583	missense	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100617947T>A	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1676A>T	13.37:g.100617947T>A	ENSP00000267294:p.Asp559Val						p.D559V	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			2	1909	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		559					Q5VYB0	Missense_Mutation	SNP	ENST00000267294.4	37	c.1676A>T	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	T	22.5	4.304563	0.81136	.	.	ENSG00000139800	ENST00000397451;ENST00000267294	T	0.54279	0.58	5.79	5.79	0.91817	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.71350	0.3329	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74487	-0.3649	9	0.87932	D	0	.	15.8149	0.78592	0.0:0.0:0.0:1.0	.	559	Q96T25	ZIC5_HUMAN	V	197;559	ENSP00000267294:D559V	ENSP00000267294:D559V	D	-	2	0	ZIC5	99415948	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.198000	0.70561	0.533000	0.62120	GAC		0.522	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		140	394	0	0	0	1	0	140	394				
ANKRD13D	338692	broad.mit.edu	37	11	67067334	67067334	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:67067334C>T	ENST00000447274.2	+	9	1831	c.656C>T	c.(655-657)gCg>gTg	p.A219V	ANKRD13D_ENST00000511455.2_Missense_Mutation_p.A306V|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.A219V|ANKRD13D_ENST00000515828.1_5'Flank|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.A219V			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	219						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTGGGGATGGCGCAGCAGCAT	0.687																																						ENST00000447274.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9						c.(655-657)gCg>gTg		ankyrin repeat domain 13 family, member D							57.0	51.0	53.0					11																	67067334		2200	4295	6495	SO:0001583	missense	338692							g.chr11:67067334C>T	AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.656C>T	11.37:g.67067334C>T	ENSP00000402616:p.Ala219Val					ANKRD13D_ENST00000511455.2_Missense_Mutation_p.A306V|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.A219V|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.A219V	p.A219V			Q6ZTN6	AN13D_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		9	1831	+			219					D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	37	c.656C>T		.	.	.	.	.	.	.	.	.	.	C	17.14	3.312689	0.60414	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.53	4.53	0.55603	.	0.000000	0.64402	D	0.000004	T	0.42966	0.1226	L	0.41079	1.255	0.80722	D	1	D;D	0.56746	0.977;0.973	P;P	0.50537	0.56;0.643	T	0.15694	-1.0428	10	0.15066	T	0.55	-19.9301	17.0487	0.86511	0.0:1.0:0.0:0.0	.	306;219	Q6ZTN6-3;Q6ZTN6	.;AN13D_HUMAN	V	219;306;219;219	ENSP00000402616:A219V;ENSP00000427130:A306V;ENSP00000310874:A219V;ENSP00000444404:A219V	ENSP00000310874:A219V	A	+	2	0	ANKRD13D	66823910	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	7.355000	0.79434	2.351000	0.79841	0.313000	0.20887	GCG		0.687	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354		27	291	0	0	0	1	0	27	291				
SERPINB1	1992	broad.mit.edu	37	6	2838132	2838132	+	Silent	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:2838132G>A	ENST00000380739.5	-	4	610	c.408C>T	c.(406-408)gtC>gtT	p.V136V	SERPINB1_ENST00000537185.1_5'UTR|SERPINB1_ENST00000476896.1_5'UTR	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	136					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		TCTGTCCTTTGACCCACTGGT	0.488																																						ENST00000380739.5																			0				breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13						c.(406-408)gtC>gtT		serpin peptidase inhibitor, clade B (ovalbumin), member 1							337.0	303.0	314.0					6																	2838132		2203	4300	6503	SO:0001819	synonymous_variant	1992				regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity	g.chr6:2838132G>A	M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"""Serine (or cysteine) peptidase inhibitors"""	3311	protein-coding gene	gene with protein product		130135	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"""	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.408C>T	6.37:g.2838132G>A						SERPINB1_ENST00000476896.1_5'UTR|SERPINB1_ENST00000537185.1_5'UTR	p.V136V			P30740	ILEU_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0717)	4	610	-	Ovarian(93;0.0412)		136					A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Silent	SNP	ENST00000380739.5	37	c.408C>T	CCDS4477.1																																																																																				0.488	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039637.1			90	936	0	0	0	1	0	90	936				
MT-ND5	4540	broad.mit.edu	37	M	13966	13966	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:13966A>G	ENST00000361567.2	+	1	1630	c.1630A>G	c.(1630-1632)Acg>Gcg	p.T544A	MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	544					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TAGGCCTTCTTACGAGCCAAA	0.428																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(1630-1632)Acg>Gcg		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:13966A>G			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1630A>G	M.37:g.13966A>G	ENSP00000354813:p.Thr544Ala						p.T544A			P03915	NU5M_HUMAN			1	1630	+			544					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.1630A>G																																																																																					0.428	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		6	32	0	0	0	1	0	6	32				
SCGN	10590	broad.mit.edu	37	6	25670278	25670278	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:25670278A>T	ENST00000377961.2	+	6	613	c.445A>T	c.(445-447)Aaa>Taa	p.K149*	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	149	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TTCTGAGGCTAAACTGGAAGA	0.463																																						ENST00000377961.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(445-447)Aaa>Taa		secretagogin, EF-hand calcium binding protein							137.0	140.0	139.0					6																	25670278		2203	4300	6503	SO:0001587	stop_gained	10590					extracellular region|transport vesicle membrane	calcium ion binding	g.chr6:25670278A>T	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.445A>T	6.37:g.25670278A>T	ENSP00000367197:p.Lys149*					SCGN_ENST00000334979.6_3'UTR	p.K149*	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN			6	613	+			149			EF-hand 4.		A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Nonsense_Mutation	SNP	ENST00000377961.2	37	c.445A>T	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	A	38	6.687892	0.97764	.	.	ENSG00000079689	ENST00000377961	.	.	.	5.6	4.45	0.53987	.	0.042749	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8856	0.41260	0.9171:0.0:0.0829:0.0	.	.	.	.	X	149	.	ENSP00000367197:K149X	K	+	1	0	SCGN	25778257	1.000000	0.71417	0.760000	0.31359	0.974000	0.67602	4.953000	0.63624	0.958000	0.37956	0.460000	0.39030	AAA		0.463	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			101	544	0	0	0	1	0	101	544				
SCGN	10590	broad.mit.edu	37	6	25670281	25670281	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:25670281C>A	ENST00000377961.2	+	6	616	c.448C>A	c.(448-450)Ctg>Atg	p.L150M	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	150	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGAGGCTAAACTGGAAGAATA	0.463																																						ENST00000377961.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						c.(448-450)Ctg>Atg		secretagogin, EF-hand calcium binding protein							136.0	138.0	137.0					6																	25670281		2203	4300	6503	SO:0001583	missense	10590					extracellular region|transport vesicle membrane	calcium ion binding	g.chr6:25670281C>A	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.448C>A	6.37:g.25670281C>A	ENSP00000367197:p.Leu150Met					SCGN_ENST00000334979.6_3'UTR	p.L150M	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN			6	616	+			150			EF-hand 4.		A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	ENST00000377961.2	37	c.448C>A	CCDS4561.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356514	0.82243	.	.	ENSG00000079689	ENST00000377961	T	0.72615	-0.67	5.6	5.6	0.85130	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.82162	0.4977	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83576	0.0115	10	0.72032	D	0.01	.	18.3956	0.90497	0.0:1.0:0.0:0.0	.	150	O76038	SEGN_HUMAN	M	150	ENSP00000367197:L150M	ENSP00000367197:L150M	L	+	1	2	SCGN	25778260	1.000000	0.71417	0.988000	0.46212	0.983000	0.72400	2.209000	0.42806	2.618000	0.88619	0.563000	0.77884	CTG		0.463	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1			97	533	1	0	2.44874e-31	1	2.70755e-31	97	533				
WDR45	11152	broad.mit.edu	37	X	48932556	48932556	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:48932556C>T	ENST00000376372.3	-	11	1170	c.989G>A	c.(988-990)gGg>gAg	p.G330E	PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000553851.1_Intron|WDR45_ENST00000465431.1_5'Flank|WDR45_ENST00000322995.8_Missense_Mutation_p.G341E|AF196779.12_ENST00000376358.3_Intron|WDR45_ENST00000473974.1_Nonsense_Mutation_p.W247*|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000396681.4_Missense_Mutation_p.G316E|WDR45_ENST00000356463.3_Missense_Mutation_p.G331E|WDR45_ENST00000485908.1_Missense_Mutation_p.G295E|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000376368.2_Missense_Mutation_p.G331E	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	330					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						GTGGAAGGTCCCATCTACGCA	0.537																																						ENST00000473974.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						c.(739-741)tgG>tgA		WD repeat domain 45							66.0	65.0	65.0					X																	48932556		2203	4300	6503	SO:0001583	missense	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48932556C>T	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.989G>A	X.37:g.48932556C>T	ENSP00000365551:p.Gly330Glu					WDR45_ENST00000396681.4_Missense_Mutation_p.G316E|WDR45_ENST00000376358.3_Intron|WDR45_ENST00000376368.2_Missense_Mutation_p.G331E|WDR45_ENST00000376372.3_Missense_Mutation_p.G330E|WDR45_ENST00000356463.3_Missense_Mutation_p.G331E|WDR45_ENST00000470270.1_Intron|WDR45_ENST00000322995.8_Missense_Mutation_p.G341E|WDR45_ENST00000485908.1_Missense_Mutation_p.G295E|WDR45_ENST00000553851.1_Intron	p.W247*			Q9Y484	WIPI4_HUMAN			9	879	-			247					A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Nonsense_Mutation	SNP	ENST00000376372.3	37	c.741G>A	CCDS35250.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.518097|4.518097	0.85495|0.85495	.|.	.|.	ENSG00000196998|ENSG00000196998	ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000376368;ENST00000396681|ENST00000486337;ENST00000367375;ENST00000473974;ENST00000475977	D;D;D;D;D;D|.	0.86627|.	-2.15;-2.15;-2.15;-2.15;-2.15;-2.15|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77445|.	0.4131|.	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.998;0.999;0.994|.	T|.	0.79050|.	-0.1962|.	10|.	0.87932|.	D|.	0|.	-13.1114|-13.1114	16.6575|16.6575	0.85232|0.85232	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	341;295;331;330|.	Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484|.	.;.;.;WIPI4_HUMAN|.	E|X	330;341;331;295;331;316|50;256;247;109	ENSP00000365551:G330E;ENSP00000365543:G341E;ENSP00000348848:G331E;ENSP00000419897:G295E;ENSP00000365546:G331E;ENSP00000379913:G316E|.	ENSP00000365543:G341E|.	G|W	-|-	2|3	0|0	WDR45|WDR45	48819500|48819500	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.234000|7.234000	0.78134|0.78134	2.392000|2.392000	0.81423|0.81423	0.600000|0.600000	0.82982|0.82982	GGG|TGG		0.537	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		20	291	0	0	0	1	0	20	291				
TSNARE1	203062	broad.mit.edu	37	8	143427196	143427196	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:143427196T>G	ENST00000307180.3	-	3	263	c.146A>C	c.(145-147)gAg>gCg	p.E49A	TSNARE1_ENST00000524325.1_Missense_Mutation_p.E49A|TSNARE1_ENST00000519651.1_Intron|TSNARE1_ENST00000520166.1_Missense_Mutation_p.E49A	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	49					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGCTTGCTCTCTGGCGACGG	0.597																																						ENST00000524325.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20						c.(145-147)gAg>gCg		t-SNARE domain containing 1							123.0	100.0	108.0					8																	143427196		2203	4300	6503	SO:0001583	missense	203062				vesicle-mediated transport	integral to membrane		g.chr8:143427196T>G			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.146A>C	8.37:g.143427196T>G	ENSP00000303437:p.Glu49Ala					TSNARE1_ENST00000307180.3_Missense_Mutation_p.E49A|TSNARE1_ENST00000520166.1_Missense_Mutation_p.E49A|TSNARE1_ENST00000519651.1_Intron	p.E49A			Q96NA8	TSNA1_HUMAN			3	321	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		49					B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	c.146A>C	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	T	11.70	1.717466	0.30413	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000520462;ENST00000518720	T;T;T;T;T	0.32988	2.35;2.34;2.35;1.48;1.43	2.62	2.62	0.31277	.	0.250633	0.20123	U	0.098772	T	0.19685	0.0473	L	0.27053	0.805	0.09310	N	1	P;P;P	0.46784	0.884;0.884;0.884	B;B;B	0.40659	0.336;0.336;0.336	T	0.10382	-1.0632	10	0.87932	D	0	-5.9914	7.1523	0.25618	0.0:0.0:0.0:1.0	.	49;49;49	B7ZLB0;Q96NA8;A0AVG3	.;TSNA1_HUMAN;.	A	49;49;49;49;65	ENSP00000428763:E49A;ENSP00000303437:E49A;ENSP00000427770:E49A;ENSP00000429626:E49A;ENSP00000430789:E65A	ENSP00000303437:E49A	E	-	2	0	TSNARE1	143425103	0.539000	0.26402	0.131000	0.22000	0.847000	0.48162	0.972000	0.29409	1.450000	0.47717	0.528000	0.53228	GAG		0.597	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_145003		22	329	0	0	0	1	0	22	329				
EML4	27436	broad.mit.edu	37	2	42511790	42511790	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:42511790G>T	ENST00000318522.5	+	9	1220	c.958G>T	c.(958-960)Gac>Tac	p.D320Y	EML4_ENST00000402711.2_Missense_Mutation_p.D262Y|EML4_ENST00000401738.3_Missense_Mutation_p.D331Y	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	320					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TATACATCCTGACAAAATTAG	0.378			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	0				NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(958-960)Gac>Tac		echinoderm microtubule associated protein like 4							166.0	155.0	158.0					2																	42511790		2203	4300	6503	SO:0001583	missense	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42511790G>T	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.958G>T	2.37:g.42511790G>T	ENSP00000320663:p.Asp320Tyr					EML4_ENST00000401738.3_Missense_Mutation_p.D331Y|EML4_ENST00000402711.2_Missense_Mutation_p.D262Y	p.D320Y	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			9	1220	+			320					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Missense_Mutation	SNP	ENST00000318522.5	37	c.958G>T	CCDS1807.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366057	0.82463	.	.	ENSG00000143924	ENST00000318522;ENST00000402711;ENST00000401738	T;T;T	0.57107	0.42;0.42;0.42	4.64	4.64	0.57946	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.75436	0.3849	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.80634	-0.1295	10	0.87932	D	0	-12.2515	17.8854	0.88852	0.0:0.0:1.0:0.0	.	262;320	B5MCW9;Q9HC35	.;EMAL4_HUMAN	Y	320;262;331	ENSP00000320663:D320Y;ENSP00000385059:D262Y;ENSP00000384939:D331Y	ENSP00000320663:D320Y	D	+	1	0	EML4	42365294	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.393000	0.97256	2.282000	0.76494	0.484000	0.47621	GAC		0.378	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		43	274	1	0	1.23103e-26	1	1.34474e-26	43	274				
MESDC1	59274	broad.mit.edu	37	15	81295381	81295381	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr15:81295381G>T	ENST00000267984.2	+	1	2087	c.769G>T	c.(769-771)Gca>Tca	p.A257S		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	257										endometrium(1)|lung(2)	3						CCTGGTGCAGGCAGTGAGCGC	0.736																																						ENST00000267984.2																			0				endometrium(1)|lung(2)	3						c.(769-771)Gca>Tca		mesoderm development candidate 1							5.0	6.0	6.0					15																	81295381		2085	4044	6129	SO:0001583	missense	59274							g.chr15:81295381G>T	AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.769G>T	15.37:g.81295381G>T	ENSP00000267984:p.Ala257Ser						p.A257S	NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN			1	2087	+			257						Missense_Mutation	SNP	ENST00000267984.2	37	c.769G>T	CCDS10316.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420368	0.25552	.	.	ENSG00000140406	ENST00000267984	T	0.07567	3.18	4.75	4.75	0.60458	.	0.068778	0.56097	D	0.000026	T	0.06962	0.0177	N	0.20986	0.625	0.51012	D	0.9999	B	0.15930	0.015	B	0.14023	0.01	T	0.25606	-1.0127	10	0.42905	T	0.14	-13.9108	12.7618	0.57370	0.0:0.0:0.7918:0.2082	.	257	Q9H1K6	MESD1_HUMAN	S	257	ENSP00000267984:A257S	ENSP00000267984:A257S	A	+	1	0	MESDC1	79082436	1.000000	0.71417	0.979000	0.43373	0.023000	0.10783	3.578000	0.53892	2.180000	0.69256	0.462000	0.41574	GCA		0.736	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		4	40	1	0	0.00909568	1	0.00912924	4	40				
DSE	29940	broad.mit.edu	37	6	116580008	116580008	+	Silent	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:116580008A>G	ENST00000540275.1	+	2	523	c.402A>G	c.(400-402)gcA>gcG	p.A134A	RP3-486I3.7_ENST00000448740.2_lincRNA			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	61					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTGACGATGCACACAGTCATG	0.552																																						ENST00000540275.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(400-402)gcA>gcG		dermatan sulfate epimerase																																				SO:0001819	synonymous_variant	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116580008A>G	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000540275.1:c.402A>G	6.37:g.116580008A>G							p.A134A			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	2	523	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	63					Q5R3K6	Silent	SNP	ENST00000540275.1	37	c.402A>G																																																																																					0.552	DSE-203	KNOWN	basic	protein_coding	protein_coding		NM_013352		7	157	0	0	0	1	0	7	157				
RHOBTB2	23221	broad.mit.edu	37	8	22864416	22864416	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:22864416C>G	ENST00000251822.6	+	5	1195	c.658C>G	c.(658-660)Cac>Gac	p.H220D	RHOBTB2_ENST00000522948.1_Missense_Mutation_p.H227D|RP11-875O11.1_ENST00000502083.2_RNA|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.H242D	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	220					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CTGGAAGTCCCACCTCCGCAA	0.652																																						ENST00000251822.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(658-660)Cac>Gac		Rho-related BTB domain containing 2							92.0	90.0	91.0					8																	22864416		2203	4300	6503	SO:0001583	missense	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22864416C>G	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.658C>G	8.37:g.22864416C>G	ENSP00000251822:p.His220Asp					RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.H227D|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.H242D|RP11-875O11.1_ENST00000523884.1_RNA	p.H220D	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	5	1195	+		Prostate(55;0.0513)|Breast(100;0.214)	220					A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	c.658C>G	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052210	0.75960	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.09538	2.97;2.98;2.98	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.32941	0.0846	M	0.67397	2.05	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.999;0.999;0.999	T	0.03394	-1.1041	10	0.72032	D	0.01	.	17.1413	0.86754	0.0:1.0:0.0:0.0	.	227;220;242	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	D	242;227;220	ENSP00000427926:H242D;ENSP00000429141:H227D;ENSP00000251822:H220D	ENSP00000251822:H220D	H	+	1	0	RHOBTB2	22920361	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.792000	0.85828	2.368000	0.80403	0.563000	0.77884	CAC		0.652	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			82	529	0	0	0	1	0	82	529				
PLB1	151056	broad.mit.edu	37	2	28849295	28849295	+	Splice_Site	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:28849295G>T	ENST00000327757.5	+	51	3624	c.3580G>T	c.(3580-3582)Gac>Tac	p.D1194Y	PLB1_ENST00000422425.2_Splice_Site_p.D1183Y|PLB1_ENST00000541605.1_Splice_Site_p.D159Y	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1194	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTCCCCTCAGGACATCAACCT	0.547																																						ENST00000422425.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.e50-1		phospholipase B1							124.0	105.0	111.0					2																	28849295		2203	4300	6503	SO:0001630	splice_region_variant	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28849295G>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.3580-1G>T	2.37:g.28849295G>T						PLB1_ENST00000327757.5_Splice_Site_p.D1194_splice|PLB1_ENST00000541605.1_Splice_Site_p.D159_splice	p.D1183_splice	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN			50	3591	+	Acute lymphoblastic leukemia(172;0.155)		1194			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Splice_Site	SNP	ENST00000327757.5	37	c.3546_splice	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964975	0.53507	.	.	ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000541605	T;T;T	0.15372	2.43;2.43;2.43	5.48	1.65	0.23941	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	0.593899	0.17524	N	0.171149	T	0.19248	0.0462	N	0.24115	0.695	0.29330	N	0.866772	D;D	0.62365	0.966;0.991	P;P	0.60541	0.627;0.876	T	0.09015	-1.0694	9	.	.	.	-5.1346	7.0461	0.25046	0.3801:0.0:0.6199:0.0	.	1183;1194	Q6P1J6-3;Q6P1J6	.;PLB1_HUMAN	Y	1194;1183;159	ENSP00000330442:D1194Y;ENSP00000416440:D1183Y;ENSP00000437426:D159Y	.	D	+	1	0	PLB1	28702799	0.999000	0.42202	0.989000	0.46669	0.685000	0.39939	0.871000	0.28023	0.026000	0.15269	0.561000	0.74099	GAC		0.547	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2		Missense_Mutation	33	246	1	0	3.11337e-16	1	3.29509e-16	33	246				
DSE	29940	broad.mit.edu	37	6	116579984	116579984	+	Silent	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:116579984C>T	ENST00000540275.1	+	2	499	c.378C>T	c.(376-378)gaC>gaT	p.D126D	RP3-486I3.7_ENST00000448740.2_lincRNA			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	0					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AGGTGTATGACCTCGAAGGCA	0.577																																						ENST00000540275.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(376-378)gaC>gaT		dermatan sulfate epimerase																																				SO:0001819	synonymous_variant	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116579984C>T	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000540275.1:c.378C>T	6.37:g.116579984C>T							p.D126D			Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	2	499	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	55					Q5R3K6	Silent	SNP	ENST00000540275.1	37	c.378C>T																																																																																					0.577	DSE-203	KNOWN	basic	protein_coding	protein_coding		NM_013352		19	178	0	0	0	1	0	19	178				
MT-ND5	4540	broad.mit.edu	37	M	14139	14139	+	Silent	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:14139A>G	ENST00000361567.2	+	1	1803	c.1803A>G	c.(1801-1803)ctA>ctG	p.L601L	MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	0					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						ACCCTACTCCTAATCACATAA	0.398																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(1801-1803)ctA>ctG		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001819	synonymous_variant	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:14139A>G			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1803A>G	M.37:g.14139A>G							p.L601L			P03915	NU5M_HUMAN			1	1803	+			601					Q34773|Q8WCY3	Silent	SNP	ENST00000361567.2	37	c.1803A>G																																																																																					0.398	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		4	42	0	0	0	1	0	4	42				
SCAF8	22828	broad.mit.edu	37	6	155123170	155123170	+	Silent	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:155123170C>T	ENST00000367178.3	+	7	1248	c.672C>T	c.(670-672)gcC>gcT	p.A224A	SCAF8_ENST00000417268.1_Silent_p.A224A|SCAF8_ENST00000367186.4_Silent_p.A290A	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	224	Gln-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TTCTGCAGGCCCTAGATGCTG	0.443																																						ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(670-672)gcC>gcT		SR-related CTD-associated factor 8							82.0	83.0	83.0					6																	155123170		2203	4300	6503	SO:0001819	synonymous_variant	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155123170C>T	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.672C>T	6.37:g.155123170C>T						SCAF8_ENST00000367186.4_Silent_p.A290A|SCAF8_ENST00000417268.1_Silent_p.A224A	p.A224A	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			7	1248	+			224			Gln-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP	ENST00000367178.3	37	c.672C>T	CCDS5247.1																																																																																				0.443	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		81	276	0	0	0	1	0	81	276				
WDR83	84292	broad.mit.edu	37	19	12786384	12786384	+	Silent	SNP	G	G	A	rs142130654	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:12786384G>A	ENST00000418543.3	+	11	1195	c.846G>A	c.(844-846)tcG>tcA	p.S282S	WDR83_ENST00000242796.4_Silent_p.S282S	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	282					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)				breast(2)|large_intestine(1)|lung(1)	4						TGGTGCAGTCGCTGGCCTACC	0.657											OREG0025272	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0	0.0	5008	,	,		15677	0.001		0.001	False		,,,				2504	0.0					ENST00000418543.3																			0				breast(2)|large_intestine(1)|lung(1)	4						c.(844-846)tcG>tcA		WD repeat domain 83		G	,	0,4406		0,0,2203	52.0	47.0	49.0		846,846	-11.8	0.5	19	dbSNP_134	49	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous	WDR83	NM_001099737.2,NM_032332.3	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	282/316,282/316	12786384	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	84292				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		g.chr19:12786384G>A	AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"""WD repeat domain containing"""	32672	protein-coding gene	gene with protein product	"""MAPK organizer 1"""					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.846G>A	19.37:g.12786384G>A			OREG0025272	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	682	WDR83_ENST00000242796.4_Silent_p.S282S	p.S282S	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN			11	1195	+			282					B2RAF1|Q53FT6	Silent	SNP	ENST00000418543.3	37	c.846G>A	CCDS12275.1																																																																																				0.657	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403648.1	NM_032332		33	226	0	0	0	1	0	33	226				
LHB	3972	broad.mit.edu	37	19	49520322	49520322	+	Splice_Site	SNP	A	A	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:49520322A>C	ENST00000221421.2	-	1	15		c.e1+1		CTB-60B18.10_ENST00000600007.1_lincRNA	NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide						cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|male gonad development (GO:0008584)|peptide hormone processing (GO:0016486)|progesterone biosynthetic process (GO:0006701)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CTGTAGTCTTACCTGGAGCAT	0.602																																						ENST00000221421.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.e1+1		luteinizing hormone beta polypeptide	Lutropin alfa(DB00044)|Menotropins(DB00032)						243.0	198.0	213.0					19																	49520322		2203	4300	6503	SO:0001630	splice_region_variant	3972				cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49520322A>C		CCDS12748.1	19q13.3	2013-02-26				ENSG00000104826		"""Endogenous ligands"""	6584	protein-coding gene	gene with protein product	"""lutropin, beta chain"", ""interstitial cell stimulating hormone, beta chain"", ""luteinizing hormone beta subunit"""	152780				1191677	Standard	NM_000894		Approved	LSH-B, CGB4, hLHB	uc002plt.3	P01229		ENST00000221421.2:c.15+1T>G	19.37:g.49520322A>C								NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	1	15	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)						Q9UDI0	Splice_Site	SNP	ENST00000221421.2	37		CCDS12748.1	.	.	.	.	.	.	.	.	.	.	A	10.98	1.505370	0.26949	.	.	ENSG00000104826	ENST00000221421	.	.	.	3.82	3.82	0.43975	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1486	0.36948	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LHB	54212134	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	2.488000	0.45276	1.736000	0.51660	0.379000	0.24179	.		0.602	LHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466246.1	NM_000894	Intron	80	921	0	0	0	1	0	80	921				
CSPP1	79848	broad.mit.edu	37	8	68062034	68062034	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:68062034G>C	ENST00000262210.5	+	16	2008	c.1977G>C	c.(1975-1977)atG>atC	p.M659I	CSPP1_ENST00000412460.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	694					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGAATAGGATGCACAGACAAA	0.328																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(1975-1977)atG>atC		centrosome and spindle pole associated protein 1							197.0	191.0	193.0					8																	68062034		1834	4086	5920	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68062034G>C	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1977G>C	8.37:g.68062034G>C	ENSP00000262210:p.Met659Ile					CSPP1_ENST00000412460.1_Intron	p.M659I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		16	2008	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	694					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.1977G>C	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428415	0.83667	.	.	ENSG00000104218	ENST00000262210;ENST00000389042	T	0.75821	-0.97	5.96	5.96	0.96718	.	0.000000	0.53938	U	0.000057	D	0.83193	0.5201	L	0.43152	1.355	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.75484	0.986;0.986;0.986	T	0.83223	-0.0067	10	0.66056	D	0.02	-10.4183	20.0142	0.97474	0.0:0.0:1.0:0.0	.	659;694;694	Q1MSJ5-1;Q1MSJ5;F8W7C3	.;CSPP1_HUMAN;.	I	659;694	ENSP00000262210:M659I	ENSP00000262210:M659I	M	+	3	0	CSPP1	68224588	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.094000	0.76944	2.831000	0.97527	0.650000	0.86243	ATG		0.328	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		111	851	0	0	0	1	0	111	851				
ZSWIM5	57643	broad.mit.edu	37	1	45486422	45486422	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:45486422G>T	ENST00000359600.5	-	12	2693	c.2488C>A	c.(2488-2490)Cag>Aag	p.Q830K		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	830						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATGTGCTTCTGTATTGCTTCC	0.448																																						ENST00000359600.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(2488-2490)Cag>Aag		zinc finger, SWIM-type containing 5							266.0	258.0	260.0					1																	45486422		1944	4143	6087	SO:0001583	missense	57643						zinc ion binding	g.chr1:45486422G>T	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.2488C>A	1.37:g.45486422G>T	ENSP00000352614:p.Gln830Lys						p.Q830K	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN			12	2693	-	Acute lymphoblastic leukemia(166;0.155)		830					Q5SXQ9	Missense_Mutation	SNP	ENST00000359600.5	37	c.2488C>A	CCDS41319.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.028140	0.93518	.	.	ENSG00000162415	ENST00000359600	T	0.49720	0.77	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.69278	0.3093	M	0.79258	2.445	0.80722	D	1	D	0.58620	0.983	D	0.63488	0.915	T	0.69468	-0.5137	10	0.48119	T	0.1	-12.8264	19.6388	0.95749	0.0:0.0:1.0:0.0	.	830	Q9P217	ZSWM5_HUMAN	K	830	ENSP00000352614:Q830K	ENSP00000352614:Q830K	Q	-	1	0	ZSWIM5	45259009	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.173000	0.94815	2.815000	0.96918	0.561000	0.74099	CAG		0.448	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581		160	990	1	0	4.16832e-71	1	4.66577e-71	160	990				
GOLGA2P9	440518	broad.mit.edu	37	19	22785299	22785299	+	RNA	SNP	T	T	G	rs11670278	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:22785299T>G	ENST00000599738.1	+	0	0				AC011467.1_ENST00000408863.1_RNA|CTC-457E21.3_ENST00000600260.1_RNA|RN7SL860P_ENST00000473738.2_RNA																							CCCTGCAGGGTGCCATGGAGA	0.632													G|||	1469	0.293331	0.4834	0.2565	5008	,	,		16838	0.2679		0.1431	False		,,,				2504	0.2434					ENST00000600260.1																			0																																																			0							g.chr19:22785299T>G																													19.37:g.22785299T>G								NR_033899.1						0	1475	+									RNA	SNP	ENST00000599738.1	37																																																																																						0.632	CTC-457E21.6-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000464575.1			8	121	0	0	0	1	0	8	121				
KLK8	11202	broad.mit.edu	37	19	51503919	51503919	+	Intron	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:51503919G>A	ENST00000600767.1	-	4	560				KLK8_ENST00000291726.7_Intron|KLK9_ENST00000250366.6_Intron|KLK8_ENST00000391806.2_Silent_p.V42V|KLK9_ENST00000376832.4_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000598195.1_5'Flank|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000347619.4_Intron			O60259	KLK8_HUMAN	kallikrein-related peptidase 8						cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GGTTCAAATGGACACACGGCA	0.587																																						ENST00000391806.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15						c.(124-126)gtC>gtT		kallikrein-related peptidase 8							77.0	77.0	77.0					19																	51503919		2203	4300	6503	SO:0001627	intron_variant	11202				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	g.chr19:51503919G>A	AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6369	protein-coding gene	gene with protein product		605644	"""kallikrein 8 (neuropsin/ovasin)"""	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.71-80C>T	19.37:g.51503919G>A						KLK8_ENST00000291726.7_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000376832.4_Intron|KLK9_ENST00000250366.6_Intron|KLK8_ENST00000600767.1_Intron|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000347619.4_Intron	p.V42V			O60259	KLK8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)	3	206	-		all_neural(266;0.026)	23			Peptidase S1.		Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Silent	SNP	ENST00000600767.1	37	c.126C>T	CCDS12813.1																																																																																				0.587	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465032.2	NM_007196		38	401	0	0	0	1	0	38	401				
DYM	54808	broad.mit.edu	37	18	46783384	46783384	+	Missense_Mutation	SNP	T	T	A	rs61758455		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr18:46783384T>A	ENST00000269445.6	-	13	1913	c.1456A>T	c.(1456-1458)Atc>Ttc	p.I486F	DYM_ENST00000442713.2_Missense_Mutation_p.I296F	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	486					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						ATTTACCTGATGATCCTCTGG	0.403																																						ENST00000269445.6																			0				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1456-1458)Atc>Ttc		dymeclin							119.0	100.0	106.0					18																	46783384		2203	4300	6503	SO:0001583	missense	54808					Golgi apparatus		g.chr18:46783384T>A	AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1456A>T	18.37:g.46783384T>A	ENSP00000269445:p.Ile486Phe					DYM_ENST00000442713.2_Missense_Mutation_p.I296F	p.I486F	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN			13	1913	-			486					A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Missense_Mutation	SNP	ENST00000269445.6	37	c.1456A>T	CCDS11937.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.953857	0.73902	.	.	ENSG00000141627	ENST00000418472;ENST00000442713;ENST00000269445	D;D	0.85258	-1.96;-1.96	5.54	4.38	0.52667	.	0.044822	0.85682	D	0.000000	D	0.87067	0.6085	L	0.45137	1.4	0.80722	D	1	D;P;D;D	0.64830	0.991;0.926;0.993;0.994	P;P;D;P	0.63192	0.858;0.46;0.912;0.892	D	0.85578	0.1238	10	0.45353	T	0.12	.	10.5173	0.44898	0.0:0.0775:0.0:0.9225	.	296;40;308;486	Q7RTS9-2;A5XEI3;Q9NXS9;Q7RTS9	.;.;.;DYM_HUMAN	F	91;296;486	ENSP00000395942:I296F;ENSP00000269445:I486F	ENSP00000269445:I486F	I	-	1	0	DYM	45037382	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.925000	0.70062	0.933000	0.37291	0.533000	0.62120	ATC		0.403	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255912.3	NM_017653		34	181	0	0	0	1	0	34	181				
MT-ND4	4538	broad.mit.edu	37	M	12007	12007	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:12007G>A	ENST00000361381.2	+	1	1248	c.1248G>A	c.(1246-1248)tgG>tgA	p.W416*	MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TR_ENST00000387439.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	416					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						ACAACACAATGGGGCTCACTC	0.448																																						ENST00000361381.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						c.(1246-1248)tgG>tgA		mitochondrially encoded NADH dehydrogenase 4																																				SO:0001587	stop_gained	4538							g.chrM:12007G>A			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.1248G>A	M.37:g.12007G>A	ENSP00000354961:p.Trp416*						p.416_416ins*							1	1248	+								Q6RL39|Q6RQN9|Q8HNR8	Nonsense_Mutation	SNP	ENST00000361381.2	37	c.1248G>A																																																																																					0.448	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035		5	68	0	0	0	1	0	5	68				
BSX	390259	broad.mit.edu	37	11	122850021	122850021	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:122850021G>C	ENST00000343035.2	-	2	455	c.407C>G	c.(406-408)tCc>tGc	p.S136C		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	136					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		TTCTGGCGTGGACAGGTAGCG	0.657																																						ENST00000343035.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(406-408)tCc>tGc		brain-specific homeobox							63.0	74.0	70.0					11																	122850021		2080	4203	6283	SO:0001583	missense	390259							g.chr11:122850021G>C		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.407C>G	11.37:g.122850021G>C	ENSP00000344285:p.Ser136Cys						p.S136C	NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	2	455	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	136						Missense_Mutation	SNP	ENST00000343035.2	37	c.407C>G	CCDS41728.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604204	0.87157	.	.	ENSG00000188909	ENST00000343035	D	0.96522	-4.04	5.22	4.25	0.50352	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.053098	0.85682	D	0.000000	D	0.97632	0.9224	M	0.77712	2.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96636	0.9470	10	0.25751	T	0.34	.	15.2252	0.73345	0.0:0.1409:0.8591:0.0	.	136	Q3C1V8	BSH_HUMAN	C	136	ENSP00000344285:S136C	ENSP00000344285:S136C	S	-	2	0	BSX	122355231	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.525000	0.73795	2.454000	0.82982	0.655000	0.94253	TCC		0.657	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		24	459	0	0	0	1	0	24	459				
TRAV16	28667	broad.mit.edu	37	14	22458938	22458938	+	RNA	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:22458938C>T	ENST00000390444.1	+	0	90									T cell receptor alpha variable 16																		AGAAGCTCCTCTCTGTCTTTA	0.483																																						ENST00000390444.1																			0																				47.0	46.0	46.0					14																	22458938		1837	4078	5915			0							g.chr14:22458938C>T	AE000659		14q11.2	2012-02-07			ENSG00000211796	ENSG00000211796		"""T cell receptors / TRA locus"""	12112	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV16S1, TCRAV9S1			OTTHUMG00000170642		14.37:g.22458938C>T														0	90	+									RNA	SNP	ENST00000390444.1	37																																																																																						0.483	TRAV16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409890.1	NG_001332		16	77	0	0	0	1	0	16	77				
MT-CO1	4512	broad.mit.edu	37	M	6827	6827	+	Silent	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:6827T>C	ENST00000361624.2	+	1	924	c.924T>C	c.(922-924)gcT>gcC	p.A308A	MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	308					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TTCACCTCCGCTACCATAATC	0.463																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(922-924)gcT>gcC		mitochondrially encoded cytochrome c oxidase I																																				SO:0001819	synonymous_variant	4512							g.chrM:6827T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.924T>C	M.37:g.6827T>C							p.308_308insA							1	924	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.924T>C																																																																																					0.463	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		5	77	0	0	0	1	0	5	77				
NLRP5	126206	broad.mit.edu	37	19	56565133	56565133	+	Silent	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:56565133C>T	ENST00000390649.3	+	13	3258	c.3258C>T	c.(3256-3258)tgC>tgT	p.C1086C		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1086					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGCGCTGTGCGAGGGACTGA	0.622																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(3256-3258)tgC>tgT		NLR family, pyrin domain containing 5							95.0	99.0	98.0					19																	56565133		2101	4218	6319	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56565133C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3258C>T	19.37:g.56565133C>T							p.C1086C	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	13	3258	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	1086					A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.3258C>T	CCDS12938.1																																																																																				0.622	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		47	308	0	0	0	1	0	47	308				
RPLP0P6	220717	broad.mit.edu	37	2	38709678	38709678	+	lincRNA	SNP	C	C	T	rs372176824		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:38709678C>T	ENST00000417039.1	-	0	696																											TGTCTGCAGACTGGCTACCCA	0.512																																						ENST00000417039.1																			0																																																			0							g.chr2:38709678C>T																													2.37:g.38709678C>T														0	696	-									RNA	SNP	ENST00000417039.1	37																																																																																						0.512	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			39	288	0	0	0	1	0	39	288				
ARID2	196528	broad.mit.edu	37	12	46245520	46245520	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:46245520G>C	ENST00000334344.6	+	15	3786	c.3614G>C	c.(3613-3615)gGa>gCa	p.G1205A	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.G815A|ARID2_ENST00000422737.1_Missense_Mutation_p.G1056A	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1205					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACCATGAGCGGAACGCAGACA	0.483			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3613-3615)gGa>gCa		AT rich interactive domain 2 (ARID, RFX-like)							69.0	64.0	66.0					12																	46245520		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245520G>C		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3614G>C	12.37:g.46245520G>C	ENSP00000335044:p.Gly1205Ala					ARID2_ENST00000444670.1_Missense_Mutation_p.G815A|ARID2_ENST00000422737.1_Missense_Mutation_p.G1056A|ARID2_ENST00000479608.1_3'UTR	p.G1205A	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3786	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1205					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.3614G>C	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	5.049	0.194686	0.09599	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.33865	1.39	6.17	6.17	0.99709	.	0.101926	0.64402	D	0.000003	T	0.32010	0.0815	L	0.27053	0.805	0.80722	D	1	P;P;P	0.46859	0.885;0.885;0.817	P;P;B	0.45753	0.492;0.492;0.23	T	0.02813	-1.1107	10	0.06099	T	0.92	-8.32	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1205;815;1205	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	A	1205;322;322;1056;815	ENSP00000335044:G1205A	ENSP00000335044:G1205A	G	+	2	0	ARID2	44531787	1.000000	0.71417	0.869000	0.34112	0.004000	0.04260	7.071000	0.76770	2.941000	0.99782	0.655000	0.94253	GGA		0.483	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		50	249	0	0	0	1	0	50	249				
UBE2Q1	55585	broad.mit.edu	37	1	154525225	154525225	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:154525225C>G	ENST00000292211.4	-	6	880	c.801G>C	c.(799-801)caG>caC	p.Q267H	UBE2Q1-AS1_ENST00000441613.1_RNA|UBE2Q1_ENST00000497453.1_5'UTR	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	267					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTTTGAAACTCTGTGATCGGT	0.572																																						ENST00000292211.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16						c.(799-801)caG>caC		ubiquitin-conjugating enzyme E2Q family member 1							59.0	63.0	62.0					1																	154525225		2203	4300	6503	SO:0001583	missense	55585						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:154525225C>G	AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.801G>C	1.37:g.154525225C>G	ENSP00000292211:p.Gln267His					UBE2Q1_ENST00000497453.1_5'UTR	p.Q267H	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		6	880	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		267					B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	ENST00000292211.4	37	c.801G>C	CCDS1069.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493961	0.44352	.	.	ENSG00000160714	ENST00000292211	.	.	.	5.18	4.19	0.49359	Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	M	0.62723	1.935	0.42318	D	0.992249	B	0.22851	0.076	B	0.21546	0.035	T	0.55566	-0.8121	9	0.66056	D	0.02	-10.7848	9.0263	0.36232	0.0:0.8603:0.0:0.1397	.	267	Q7Z7E8	UB2Q1_HUMAN	H	267	.	ENSP00000292211:Q267H	Q	-	3	2	UBE2Q1	152791849	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.740000	0.47418	2.701000	0.92244	0.563000	0.77884	CAG		0.572	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090704.1	NM_017582		20	465	0	0	0	1	0	20	465				
CTD-2066L21.3	0	broad.mit.edu	37	5	33162435	33162435	+	lincRNA	SNP	A	A	G	rs573754241	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:33162435A>G	ENST00000510327.1	-	0	346																											TGTGCAGGGAAGTAACAAGAA	0.537																																						ENST00000510327.1																			0																																																			0							g.chr5:33162435A>G																													5.37:g.33162435A>G														0	346	-									RNA	SNP	ENST00000510327.1	37																																																																																						0.537	CTD-2066L21.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366718.1			13	265	0	0	0	1	0	13	265				
CELA3A	10136	broad.mit.edu	37	1	22331987	22331987	+	Silent	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:22331987C>T	ENST00000290122.3	+	3	196	c.177C>T	c.(175-177)ggC>ggT	p.G59G	RN7SL768P_ENST00000584415.1_RNA|CELA3A_ENST00000374663.1_Silent_p.G59G	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	59	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACACGTGTGGCGGTAGCCTCA	0.622											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000290122.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(175-177)ggC>ggT		chymotrypsin-like elastase family, member 3A							89.0	103.0	98.0					1																	22331987		2197	4300	6497	SO:0001819	synonymous_variant	10136							g.chr1:22331987C>T	D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.177C>T	1.37:g.22331987C>T			OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	755	CELA3A_ENST00000374663.1_Silent_p.G59G	p.G59G	NM_005747.4	NP_005738.4					3	196	+								B1AQ53|Q9BRW4	Silent	SNP	ENST00000290122.3	37	c.177C>T	CCDS220.1																																																																																				0.622	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1	NM_005747		51	504	0	0	0	1	0	51	504				
ZHX1	11244	broad.mit.edu	37	8	124267697	124267697	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:124267697C>T	ENST00000522655.1	-	3	1030	c.490G>A	c.(490-492)Gag>Aag	p.E164K	ZHX1_ENST00000395571.3_Missense_Mutation_p.E164K|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.E164K|ZHX1_ENST00000522595.1_5'Flank			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	164					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TCTGCTTGCTCTGCATTCTCC	0.323																																						ENST00000395571.3																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(490-492)Gag>Aag		zinc fingers and homeoboxes 1							106.0	105.0	105.0					8																	124267697		2201	4300	6501	SO:0001583	missense	11244				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:124267697C>T	AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.490G>A	8.37:g.124267697C>T	ENSP00000428821:p.Glu164Lys					ZHX1_ENST00000522655.1_Missense_Mutation_p.E164K|ZHX1_ENST00000297857.2_Missense_Mutation_p.E164K|ZHX1-C8ORF76_ENST00000357082.4_Intron	p.E164K	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1107	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		164					Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	c.490G>A	CCDS6342.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492037	0.26774	.	.	ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655	T;T;T	0.55234	0.53;0.53;0.53	5.51	5.51	0.81932	.	0.252609	0.31989	N	0.006746	T	0.51244	0.1663	.	.	.	0.46499	D	0.99907	B	0.23058	0.079	B	0.21917	0.037	T	0.49716	-0.8910	9	0.66056	D	0.02	-15.5127	19.4207	0.94720	0.0:1.0:0.0:0.0	.	164	Q9UKY1	ZHX1_HUMAN	K	164	ENSP00000297857:E164K;ENSP00000378938:E164K;ENSP00000428821:E164K	ENSP00000297857:E164K	E	-	1	0	ZHX1	124336878	0.999000	0.42202	0.940000	0.37924	0.155000	0.21991	5.457000	0.66672	2.581000	0.87130	0.555000	0.69702	GAG		0.323	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			29	636	0	0	0	1	0	29	636				
MT-CO2	4513	broad.mit.edu	37	M	8027	8027	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:8027G>A	ENST00000361739.1	+	1	442	c.442G>A	c.(442-444)Gcc>Acc	p.A148T	MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-ND4_ENST00000361381.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TR_ENST00000387439.1_RNA			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	148			A -> T. {ECO:0000269|PubMed:8277847}.		cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						TCCCGATTGAAGCCCCCATTC	0.468																																						ENST00000361739.1																			0				endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						c.(442-444)Gcc>Acc		mitochondrially encoded cytochrome c oxidase II																																				SO:0001583	missense	4513							g.chrM:8027G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.442G>A	M.37:g.8027G>A	ENSP00000354876:p.Ala148Thr						p.A148T							1	442	+								Q37526	Missense_Mutation	SNP	ENST00000361739.1	37	c.442G>A																																																																																					0.468	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024029		11	85	0	0	0	1	0	11	85				
NEK10	152110	broad.mit.edu	37	3	27297832	27297832	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:27297832T>C	ENST00000429845.2	-	24	2407	c.2045A>G	c.(2044-2046)gAa>gGa	p.E682G	NEK10_ENST00000341435.5_Missense_Mutation_p.E682G|NEK10_ENST00000357467.2_Missense_Mutation_p.E79G			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	682	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTTACTGTTTTCTTGTTTTTG	0.358																																						ENST00000429845.2																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2044-2046)gAa>gGa		NIMA-related kinase 10							122.0	117.0	119.0					3																	27297832		2202	4300	6502	SO:0001583	missense	152110						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr3:27297832T>C	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2045A>G	3.37:g.27297832T>C	ENSP00000395849:p.Glu682Gly					NEK10_ENST00000357467.2_Missense_Mutation_p.E79G|NEK10_ENST00000341435.5_Missense_Mutation_p.E682G	p.E682G			Q6ZWH5	NEK10_HUMAN			24	2407	-			682			Protein kinase.		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Missense_Mutation	SNP	ENST00000429845.2	37	c.2045A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.50|15.50	2.852640|2.852640	0.51270|0.51270	.|.	.|.	ENSG00000163491|ENSG00000163491	ENST00000357467;ENST00000341435|ENST00000424275	T;T|.	0.66638|.	-0.22;-0.22|.	4.96|4.96	4.96|4.96	0.65561|0.65561	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	.|.	.|.	.|.	.|.	T|T	0.58061|0.58061	0.2096|0.2096	L|L	0.41961|0.41961	1.31|1.31	0.39166|0.39166	D|D	0.962504|0.962504	B;B|.	0.26635|.	0.155;0.042|.	B;B|.	0.18871|.	0.022;0.023|.	T|T	0.58707|0.58707	-0.7589|-0.7589	9|5	0.48119|.	T|.	0.1|.	.|.	12.4529|12.4529	0.55686|0.55686	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	682;79|.	Q6ZWH5;Q8N774|.	NEK10_HUMAN;.|.	G|E	79;682|169	ENSP00000350059:E79G;ENSP00000343847:E682G|.	ENSP00000343847:E682G|.	E|K	-|-	2|1	0|0	NEK10|NEK10	27272836|27272836	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.508000|5.508000	0.67006|0.67006	1.984000|1.984000	0.57885|0.57885	0.482000|0.482000	0.46254|0.46254	GAA|AAA		0.358	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534		12	117	0	0	0	1	0	12	117				
NTMT1	28989	broad.mit.edu	37	9	132395107	132395107	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr9:132395107T>A	ENST00000372486.1	+	2	474	c.125T>A	c.(124-126)aTc>aAc	p.I42N	NTMT1_ENST00000372481.3_Missense_Mutation_p.I42N|NTMT1_ENST00000486391.2_Intron|NTMT1_ENST00000459968.2_Missense_Mutation_p.I42N|NTMT1_ENST00000372483.4_Missense_Mutation_p.I42N|NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000372480.1_Missense_Mutation_p.I42N			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	42					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										AGCATCGACATCAACAGCTCC	0.567																																						ENST00000372486.1																			0											c.(124-126)aTc>aAc		N-terminal Xaa-Pro-Lys N-methyltransferase 1							157.0	140.0	146.0					9																	132395107		2203	4300	6503	SO:0001583	missense	28989							g.chr9:132395107T>A	AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"""chromosome 9 open reading frame 32"", ""methyltransferase like 11A"""	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.125T>A	9.37:g.132395107T>A	ENSP00000361564:p.Ile42Asn					NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000372481.3_Missense_Mutation_p.I42N|NTMT1_ENST00000372483.4_Missense_Mutation_p.I42N|NTMT1_ENST00000459968.2_Missense_Mutation_p.I42N|NTMT1_ENST00000372480.1_Missense_Mutation_p.I42N|NTMT1_ENST00000486391.2_Intron	p.I42N							2	474	+								A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Missense_Mutation	SNP	ENST00000372486.1	37	c.125T>A	CCDS35160.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.651900	0.88056	.	.	ENSG00000148335	ENST00000372486;ENST00000372483;ENST00000372481;ENST00000372480	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.15	5.15	0.70609	.	0.190467	0.43919	D	0.000514	T	0.60586	0.2280	M	0.89904	3.07	0.58432	D	0.999998	D;D	0.76494	0.999;0.994	D;D	0.65443	0.935;0.927	T	0.69687	-0.5078	10	0.66056	D	0.02	8.0E-4	13.8086	0.63248	0.0:0.0:0.0:1.0	.	42;42	Q9BV86-2;Q9BV86	.;NTM1A_HUMAN	N	42	ENSP00000361564:I42N;ENSP00000361561:I42N;ENSP00000361559:I42N;ENSP00000361558:I42N	ENSP00000361558:I42N	I	+	2	0	METTL11A	131434928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.160000	0.71862	1.954000	0.56735	0.459000	0.35465	ATC		0.567	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064		108	569	0	0	0	1	0	108	569				
STK4	6789	broad.mit.edu	37	20	43703792	43703792	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr20:43703792A>T	ENST00000372806.3	+	11	1534	c.1439A>T	c.(1438-1440)aAg>aTg	p.K480M	STK4_ENST00000499879.2_Missense_Mutation_p.K425M|STK4_ENST00000372801.1_3'UTR	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	480	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				ATAGAGGCTAAGAAGAGACGG	0.562																																					GBM(187;1039 2137 11798 21916 33213)	ENST00000372806.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(1438-1440)aAg>aTg		serine/threonine kinase 4							41.0	41.0	41.0					20																	43703792		2203	4300	6503	SO:0001583	missense	6789				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	g.chr20:43703792A>T		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.1439A>T	20.37:g.43703792A>T	ENSP00000361892:p.Lys480Met					STK4_ENST00000499879.2_Missense_Mutation_p.K425M|STK4_ENST00000372801.1_3'UTR	p.K480M	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN			11	1534	+		Myeloproliferative disorder(115;0.0122)	480			SARAH.		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	c.1439A>T	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.900543	0.92035	.	.	ENSG00000101109	ENST00000372806;ENST00000499879	T;T	0.79454	-1.27;-0.4	5.99	5.99	0.97316	SARAH domain (1);SARAH (1);	0.000000	0.85682	D	0.000000	D	0.89068	0.6610	M	0.82193	2.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90456	0.4442	10	0.87932	D	0	.	16.4892	0.84195	1.0:0.0:0.0:0.0	.	425;480	F5H5B4;Q13043	.;STK4_HUMAN	M	480;425	ENSP00000361892:K480M;ENSP00000443514:K425M	ENSP00000361892:K480M	K	+	2	0	STK4	43137206	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	8.893000	0.92498	2.296000	0.77279	0.533000	0.62120	AAG		0.562	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282		10	211	0	0	0	1	0	10	211				
OR6Y1	391112	broad.mit.edu	37	1	158517108	158517108	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:158517108G>T	ENST00000302617.3	-	1	787	c.788C>A	c.(787-789)aCc>aAc	p.T263N		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					ACGGGCATAGGTGAAAAGTGT	0.483																																						ENST00000302617.3																			0				NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						c.(787-789)aCc>aAc		olfactory receptor, family 6, subfamily Y, member 1							201.0	191.0	194.0					1																	158517108		2203	4300	6503	SO:0001583	missense	391112				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158517108G>T	BK004192	CCDS30899.1	1q23.1	2012-08-09			ENSG00000197532	ENSG00000197532		"""GPCR / Class A : Olfactory receptors"""	14823	protein-coding gene	gene with protein product				OR6Y2			Standard	NM_001005189		Approved		uc010pil.2	Q8NGX8	OTTHUMG00000019629	ENST00000302617.3:c.788C>A	1.37:g.158517108G>T	ENSP00000304807:p.Thr263Asn						p.T263N	NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN			1	787	-	all_hematologic(112;0.0378)		263					Q6IFS0	Missense_Mutation	SNP	ENST00000302617.3	37	c.788C>A	CCDS30899.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625712	0.46840	.	.	ENSG00000197532	ENST00000302617	T	0.00145	8.67	5.34	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000574	T	0.00109	0.0003	L	0.35542	1.07	0.23649	N	0.997204	D	0.89917	1.0	D	0.79108	0.992	T	0.54186	-0.8331	10	0.41790	T	0.15	.	9.8124	0.40831	0.1588:0.0:0.8412:0.0	.	263	Q8NGX8	OR6Y1_HUMAN	N	263	ENSP00000304807:T263N	ENSP00000304807:T263N	T	-	2	0	OR6Y1	156783732	0.009000	0.17119	0.996000	0.52242	0.943000	0.58893	0.043000	0.13971	2.763000	0.94921	0.655000	0.94253	ACC		0.483	OR6Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051844.1	NM_001005189		98	608	1	0	9.86815e-39	1	1.09557e-38	98	608				
LINC01317	104355287	broad.mit.edu	37	2	33952621	33952621	+	lincRNA	SNP	G	G	A	rs11684598	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:33952621G>A	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							CTTCGGTGGCGTAAGCCACAC	0.647													G|||	2228	0.444888	0.3366	0.5951	5008	,	,		17498	0.4425		0.4761	False		,,,				2504	0.455					ENST00000366209.2																			0																																																			0							g.chr2:33952621G>A																													2.37:g.33952621G>A						MYADML_ENST00000474610.1_RNA								0	68	+									RNA	SNP	ENST00000366209.2	37																																																																																						0.647	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1			6	153	0	0	0	1	0	6	153				
CTSF	8722	broad.mit.edu	37	11	66331559	66331559	+	Splice_Site	SNP	C	C	T			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:66331559C>T	ENST00000310325.5	-	12	1489	c.1380G>A	c.(1378-1380)aaG>aaA	p.K460K	ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA|CTSF_ENST00000533168.1_5'Flank	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	460				SDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASSAV VD -> EFRCLSCIQPGHRQGWDHSISGPLEGK (in Ref. 9). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAAGACTCACCTTCTCACCCC	0.612																																						ENST00000310325.5																			0				endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.e12+1		cathepsin F							68.0	62.0	64.0					11																	66331559		2200	4295	6495	SO:0001630	splice_region_variant	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66331559C>T	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.1380+1G>A	11.37:g.66331559C>T							p.K460_splice	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN			12	1489	-			460	SDVPFWAIKNSWGTDWGEKGYYYLHRGSGACGVNTMASSAV VD -> EFRCLSCIQPGHRQGWDHSISGPLEGK (in Ref. 9).				B2R964|O95240|Q9NSU4|Q9UKQ5	Splice_Site	SNP	ENST00000310325.5	37	c.1380_splice	CCDS8144.1																																																																																				0.612	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793	Silent	14	112	0	0	0	1	0	14	112				
FAM180A	389558	broad.mit.edu	37	7	135418815	135418815	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr7:135418815G>C	ENST00000338588.3	-	3	695	c.430C>G	c.(430-432)Cag>Gag	p.Q144E	FAM180A_ENST00000435869.1_Intron|FAM180A_ENST00000415751.1_Missense_Mutation_p.Q144E	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	144						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						ATGTCCTTCTGATGGCCGTGG	0.607																																						ENST00000338588.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						c.(430-432)Cag>Gag		family with sequence similarity 180, member A							107.0	91.0	96.0					7																	135418815		2203	4300	6503	SO:0001583	missense	389558					extracellular region		g.chr7:135418815G>C	AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.430C>G	7.37:g.135418815G>C	ENSP00000342336:p.Gln144Glu					FAM180A_ENST00000415751.1_Missense_Mutation_p.Q144E	p.Q144E	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN			3	695	-			144					B2RP85	Missense_Mutation	SNP	ENST00000338588.3	37	c.430C>G	CCDS5841.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458856	0.84317	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.32753	1.44;1.44	5.65	5.65	0.86999	.	0.053099	0.85682	D	0.000000	T	0.53642	0.1809	M	0.72894	2.215	0.53688	D	0.999978	D	0.67145	0.996	D	0.76071	0.987	T	0.42015	-0.9476	10	0.19147	T	0.46	-11.6415	17.225	0.86967	0.0:0.0:1.0:0.0	.	144	Q6UWF9	F180A_HUMAN	E	144	ENSP00000342336:Q144E;ENSP00000395467:Q144E	ENSP00000342336:Q144E	Q	-	1	0	FAM180A	135069355	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	8.517000	0.90555	2.677000	0.91161	0.561000	0.74099	CAG		0.607	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	NM_205855		39	281	0	0	0	1	0	39	281				
MT-ND2	4536	broad.mit.edu	37	M	1888	1888	+	5'Flank	SNP	G	G	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrM:1888G>A	ENST00000361453.3	+	0	0				MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						TTTGCAAGGAGAGCCAAAGCT	0.398																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chrM:1888G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.1888G>A	Exception_encountered							NR_039705.1						0	218	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.398	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		14	110	0	0	0	1	0	14	110				
MCEMP1	199675	broad.mit.edu	37	19	7743463	7743463	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:7743463A>G	ENST00000333598.3	+	5	914	c.460A>G	c.(460-462)Att>Gtt	p.I154V	TRAPPC5_ENST00000596148.1_5'Flank|CTD-3214H19.16_ENST00000597959.1_Missense_Mutation_p.D26G|TRAPPC5_ENST00000317378.5_5'Flank|TRAPPC5_ENST00000426877.2_5'Flank|C19orf59_ENST00000597445.1_Missense_Mutation_p.I111V	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN		154						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						CAGGAGCAAGATTGATAGATT	0.522											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333598.3																			0				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						c.(460-462)Att>Gtt		chromosome 19 open reading frame 59							140.0	137.0	138.0					19																	7743463		2203	4300	6503	SO:0001583	missense	199675					integral to membrane		g.chr19:7743463A>G																												ENST00000333598.3:c.460A>G	19.37:g.7743463A>G	ENSP00000329920:p.Ile154Val		OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	C19orf59_ENST00000597445.1_Missense_Mutation_p.I111V|CTD-3214H19.16_ENST00000597959.1_Missense_Mutation_p.D26G	p.I154V	NM_174918.2	NP_777578.2	Q8IX19	MCEM1_HUMAN			5	914	+			154					Q8IX20	Missense_Mutation	SNP	ENST00000333598.3	37	c.460A>G	CCDS12183.1	.	.	.	.	.	.	.	.	.	.	G	0.096	-1.159286	0.01686	.	.	ENSG00000183019	ENST00000333598	T	0.25749	1.78	2.97	-1.59	0.08453	.	1.091820	0.07270	N	0.868924	T	0.08758	0.0217	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37384	-0.9708	10	0.09590	T	0.72	-3.8449	7.6052	0.28097	0.6562:0.0:0.3438:0.0	.	154	Q8IX19	MCEM1_HUMAN	V	154	ENSP00000329920:I154V	ENSP00000329920:I154V	I	+	1	0	C19orf59	7649463	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.282000	0.08445	-0.582000	0.05929	-0.119000	0.15052	ATT		0.522	C19orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461248.1			43	236	0	0	0	1	0	43	236				
TIMP1	7076	broad.mit.edu	37	X	47446054	47446054	+	Silent	SNP	G	G	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:47446054G>C	ENST00000218388.4	+	6	758	c.588G>C	c.(586-588)ctG>ctC	p.L196L	SYN1_ENST00000295987.7_Intron|SYN1_ENST00000340666.4_Intron|MIR4769_ENST00000584126.1_RNA|TIMP1_ENST00000377017.1_Silent_p.L132L	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	196					aging (GO:0007568)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of trophoblast cell migration (GO:1901164)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell proliferation (GO:0008284)|regulation of integrin-mediated signaling pathway (GO:2001044)|response to cytokine (GO:0034097)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	cytokine activity (GO:0005125)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|large_intestine(2)	3						AGCCAGGGCTGTGCACCTGGC	0.612																																						ENST00000218388.4																			0				endometrium(1)|large_intestine(2)	3						c.(586-588)ctG>ctC		TIMP metallopeptidase inhibitor 1							72.0	57.0	63.0					X																	47446054		2203	4300	6503	SO:0001819	synonymous_variant	7076				erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding	g.chrX:47446054G>C		CCDS14281.1	Xp11.3-p11.23	2008-07-29	2005-08-08		ENSG00000102265	ENSG00000102265			11820	protein-coding gene	gene with protein product		305370	"""tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor)"""	TIMP, CLGI			Standard	XM_005272645		Approved	EPO	uc004dif.3	P01033	OTTHUMG00000021447	ENST00000218388.4:c.588G>C	X.37:g.47446054G>C						SYN1_ENST00000295987.7_Intron|SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000377017.1_Silent_p.L132L	p.L196L	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN			6	758	+			196					Q14252|Q9UCU1	Silent	SNP	ENST00000218388.4	37	c.588G>C	CCDS14281.1	.	.	.	.	.	.	.	.	.	.	G	8.460	0.855188	0.17106	.	.	ENSG00000102265	ENST00000445623	.	.	.	5.23	2.08	0.27032	.	.	.	.	.	T	0.52725	0.1752	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45026	-0.9289	4	.	.	.	.	6.0618	0.19842	0.1181:0.2872:0.5947:0.0	.	.	.	.	S	154	.	.	C	+	2	0	TIMP1	47330998	0.949000	0.32298	0.940000	0.37924	0.878000	0.50629	0.087000	0.14958	0.928000	0.37168	0.523000	0.50628	TGT		0.612	TIMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056423.1	NM_003254		12	201	0	0	0	1	0	12	201				
BRD4	23476	broad.mit.edu	37	19	15354198	15354198	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:15354198C>G	ENST00000263377.2	-	14	2903	c.2682G>C	c.(2680-2682)ttG>ttC	p.L894F		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	894					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GTGTTTGGGTCAAGGCTGGTG	0.682			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(2680-2682)ttG>ttC		bromodomain containing 4							9.0	11.0	11.0					19																	15354198		2173	4280	6453	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15354198C>G	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2682G>C	19.37:g.15354198C>G	ENSP00000263377:p.Leu894Phe						p.L894F	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		14	2903	-			894					O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.2682G>C	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	c	3.540	-0.093932	0.07053	.	.	ENSG00000141867	ENST00000263377	T	0.36157	1.27	4.34	3.26	0.37387	.	0.000000	0.36002	N	0.002844	T	0.32164	0.0820	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	P	0.56278	0.795	T	0.08229	-1.0732	10	0.56958	D	0.05	-13.9508	5.6884	0.17815	0.3:0.4573:0.2427:0.0	.	894	O60885	BRD4_HUMAN	F	894	ENSP00000263377:L894F	ENSP00000263377:L894F	L	-	3	2	BRD4	15215198	0.998000	0.40836	0.826000	0.32828	0.102000	0.19082	0.756000	0.26419	1.945000	0.56424	0.556000	0.70494	TTG		0.682	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		5	65	0	0	0	1	0	5	65				
CDCP2	200008	broad.mit.edu	37	1	54605517	54605517	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:54605517delT	ENST00000371330.1	-	4	1873	c.1026delA	c.(1024-1026)ccafs	p.P343fs	CDCP2_ENST00000530059.1_5'UTR|RP11-446E24.4_ENST00000525949.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	343	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						AGGTCACGGGTGGTGGCAGGT	0.632																																						ENST00000371330.1																			0				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						c.(1024-1026)ccfs		CUB domain containing protein 2							46.0	49.0	48.0					1																	54605517		2203	4300	6503	SO:0001589	frameshift_variant	200008					extracellular region		g.chr1:54605517delT		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.1026delA	1.37:g.54605517delT	ENSP00000360381:p.Pro343fs					CDCP2_ENST00000530059.1_5'UTR	p.P343fs	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN			4	1873	-			343			CUB 3.		Q6ZWJ3	Frame_Shift_Del	DEL	ENST00000371330.1	37	c.1026delA	CCDS588.2																																																																																				0.632	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		43	270						43	270	---	---	---	---
KCNC4	3749	broad.mit.edu	37	1	110768648	110768664	+	Frame_Shift_Del	DEL	CTGGCCTCACCCAACCC	CTGGCCTCACCCAACCC	-	rs371019224		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:110768648_110768664delCTGGCCTCACCCAACCC	ENST00000369787.3	+	3	1694_1710	c.1667_1683delCTGGCCTCACCCAACCC	c.(1666-1683)gctggcctcacccaacccfs	p.AGLTQP556fs	KCNC4_ENST00000413138.3_Frame_Shift_Del_p.AGLTQP556fs|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Frame_Shift_Del_p.AGLTQP556fs	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	556					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAGGAGGGAGCTGGCCTCACCCAACCCCTGGCCTCCT	0.641																																						ENST00000369787.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(1666-1683)gfs		potassium voltage-gated channel, Shaw-related subfamily, member 4																																				SO:0001589	frameshift_variant	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110768648_110768664delCTGGCCTCACCCAACCC	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1667_1683delCTGGCCTCACCCAACCC	1.37:g.110768648_110768664delCTGGCCTCACCCAACCC	ENSP00000358802:p.Ala556fs					KCNC4_ENST00000413138.3_Frame_Shift_Del_p.AGLTQP556fs|KCNC4_ENST00000438661.2_Frame_Shift_Del_p.AGLTQP556fs|KCNC4_ENST00000412512.2_Intron	p.AGLTQP556fs	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	3	1694_1710	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	556					Q3MIM4|Q5TBI6	Frame_Shift_Del	DEL	ENST00000369787.3	37	c.1667_1683delCTGGCCTCACCCAACCC	CCDS821.1																																																																																				0.641	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574		51	300						51	300	---	---	---	---
SRGAP2B	647135	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G	rs368205479|rs371276355		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108							P0DMP2	SRG2B_HUMAN	SLIT-ROBO Rho GTPase activating protein 2B						nervous system development (GO:0007399)												tcgctcacgctggagctgtaga	0.535																																						ENST00000467933.1																			0																																																			0							g.chr1:144043905_144043906insG		CCDS72854.1	1q21.1	2014-07-10	2013-02-13	2012-05-08	ENSG00000196369	ENSG00000196369			35237	protein-coding gene	gene with protein product		614703	"""SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2"", ""SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)"""	SRGAP2P2		22559943, 22559944	Standard	NM_001271870		Approved		uc010oxm.1	P0DMP2	OTTHUMG00000041442		1.37:g.144043907_144043907dupG														0	1108	+									RNA	INS	ENST00000467933.1	37																																																																																						0.535	SRGAP2B-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352915.1	NM_001271870		9	91						9	91	---	---	---	---
OTUD7B	56957	broad.mit.edu	37	1	149920861	149920869	+	Splice_Site	DEL	CCTGGCTTA	CCTGGCTTA	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:149920861_149920869delCCTGGCTTA	ENST00000369135.4	-	10	1533		c.e10+1			NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B						mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			AAAGACTAGGCCTGGCTTACCTGGCCAAT	0.498																																						ENST00000369135.3																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.e10+1		OTU domain containing 7B																																				SO:0001630	splice_region_variant	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149920861_149920869delCCTGGCTTA	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1238+1TAAGCCAGG>-	1.37:g.149920861_149920869delCCTGGCTTA								NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		10	1533	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)							B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Splice_Site	DEL	ENST00000369135.4	37		CCDS41389.1																																																																																				0.498	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205	Intron	26	353						26	353	---	---	---	---
RPL31P11	641311	broad.mit.edu	37	1	161654767	161654768	+	RNA	INS	-	-	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:161654767_161654768insC	ENST00000426558.1	-	0	274_275					NR_002595.1				ribosomal protein L31 pseudogene 11																		TATGGGACATTCTTATTCCTTT	0.465																																						ENST00000426558.1																			0																																																			0							g.chr1:161654767_161654768insC			1q23.3	2010-06-16			ENSG00000213075	ENSG00000213075			35849	pseudogene	pseudogene						19123937	Standard	NR_002595		Approved		uc001gbc.3		OTTHUMG00000034536		1.37:g.161654768_161654768dupC								NR_002595.1						0	274_275	-									RNA	INS	ENST00000426558.1	37																																																																																						0.465	RPL31P11-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347090.2	NR_002595		7	192						7	192	---	---	---	---
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	GAG	-	rs543977738		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:201843998_201844000delGAG	ENST00000361565.4	+	22	2941_2943	c.2872_2874delGAG	c.(2872-2874)gagdel	p.E962del		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	962					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2872-2874)del		importin 9				1,4265		0,1,2132						-9.5	0.1			127	2,8252		0,2,4125	no	coding	IPO9	NM_018085.4		0,3,6257	A1A1,A1R,RR		0.0242,0.0234,0.024				3,12517				SO:0001651	inframe_deletion	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201843998_201844000delGAG	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2872_2874delGAG	1.37:g.201844007_201844009delGAG	ENSP00000354742:p.Glu962del						p.E962del	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			22	2941_2943	+			962					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	In_Frame_Del	DEL	ENST00000361565.4	37	c.2872_2874delGAG	CCDS1415.1																																																																																				0.443	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		8	602						8	602	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204438072	204438072	+	Frame_Shift_Del	DEL	G	G	-	rs115574296		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr1:204438072delG	ENST00000367187.3	-	3	1415	c.859delC	c.(859-861)cgcfs	p.R287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Del_p.R287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCATAGGTGCGGGGGGGCACC	0.622																																						ENST00000367187.3																			1	Deletion - Frameshift(1)	p.R287fs*92(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(859-861)gcfs		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							57.0	65.0	62.0					1																	204438072		2203	4300	6503	SO:0001589	frameshift_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438072delG	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.859delC	1.37:g.204438072delG	ENSP00000356155:p.Arg287fs					PIK3C2B_ENST00000424712.2_Frame_Shift_Del_p.R287fs	p.R287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	1415	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		287			Interaction with GRB2.		O95666|Q5SW99	Frame_Shift_Del	DEL	ENST00000367187.3	37	c.859delC	CCDS1446.1																																																																																				0.622	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		8	699						8	699	---	---	---	---
HIBCH	26275	broad.mit.edu	37	2	191161629	191161629	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr2:191161629delT	ENST00000359678.5	-	3	423	c.129delA	c.(127-129)aaafs	p.K43fs	HIBCH_ENST00000392332.3_Frame_Shift_Del_p.K43fs	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	43					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCGTGCAACCTTTTTTTTCCA	0.353																																						ENST00000392332.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13						c.(127-129)aafs		3-hydroxyisobutyryl-CoA hydrolase							116.0	104.0	108.0					2																	191161629		2203	4300	6503	SO:0001589	frameshift_variant	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191161629delT	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.129delA	2.37:g.191161629delT	ENSP00000352706:p.Lys43fs					HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs	p.K43fs			Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		3	268	-			43					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Frame_Shift_Del	DEL	ENST00000359678.5	37	c.129delA	CCDS2304.1																																																																																				0.353	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			7	339						7	339	---	---	---	---
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	927	Poly-His.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2779-2784)cat>ca		ELKS/RAB6-interacting/CAST family member 2																																				SO:0001651	inframe_deletion	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55733470_55733472delTGG	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2781_2783delCCA	3.37:g.55733479_55733481delTGG	ENSP00000288221:p.His932del						p.HH931del	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	16	3036_3038	-			931			Poly-His.		Q2T9F6|Q86TK4	In_Frame_Del	DEL	ENST00000288221.6	37	c.2781_2783delCCA	CCDS46851.1																																																																																				0.502	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		11	1103						11	1103	---	---	---	---
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:87027857_87027859delCTC	ENST00000398399.2	-	2	583_585	c.220_222delGAG	c.(220-222)gagdel	p.E74del	VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502																																						ENST00000398399.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19						c.(220-222)del		vestigial like 3 (Drosophila)				1,38,3879		0,0,1,6,26,1926						5.1	1.0			64	3,85,7944		0,0,3,22,41,3950	no	codingComplex	VGLL3	NM_016206.2		0,0,4,28,67,5876	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0956,0.9954,1.0628				4,123,11823				SO:0001651	inframe_deletion	389136				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:87027857_87027859delCTC	AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.220_222delGAG	3.37:g.87027866_87027868delCTC	ENSP00000381436:p.Glu74del					VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	p.E74del	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)	2	583_585	-	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	74						In_Frame_Del	DEL	ENST00000398399.2	37	c.220_222delGAG	CCDS43110.1																																																																																				0.502	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352805.1	NM_016206		7	324						7	324	---	---	---	---
GOLIM4	27333	broad.mit.edu	37	3	167747642	167747644	+	In_Frame_Del	DEL	CTG	CTG	-	rs61743912|rs370119073	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr3:167747642_167747644delCTG	ENST00000470487.1	-	10	2046_2048	c.1357_1359delCAG	c.(1357-1359)cagdel	p.Q453del	GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	453	Gln-rich.|Glu-rich.				transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTTGCCACctgctgctgctgc	0.64																																						ENST00000470487.1																			0				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1357-1359)del		golgi integral membrane protein 4																																				SO:0001651	inframe_deletion	27333				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		g.chr3:167747642_167747644delCTG	U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.1357_1359delCAG	3.37:g.167747651_167747653delCTG	ENSP00000417354:p.Gln453del					GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del	p.Q453del	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN			10	2046_2048	-			453			Gln-rich.|Glu-rich.			In_Frame_Del	DEL	ENST00000470487.1	37	c.1357_1359delCAG	CCDS3204.1																																																																																				0.640	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2			7	289						7	289	---	---	---	---
ZNF876P	642280	broad.mit.edu	37	4	212236	212236	+	RNA	DEL	A	A	-	rs80061878		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:212236delA	ENST00000356347.3	+	0	172					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										ctaaaaatacaaaaaaaaaaa	0.493																																						ENST00000356347.3																			0																																																			0							g.chr4:212236delA	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.212236delA								NR_027481.1						0	172	+									RNA	DEL	ENST00000356347.3	37																																																																																						0.493	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		5	9						5	9	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126408614	126408614	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr4:126408614delA	ENST00000394329.3	+	16	12944	c.12931delA	c.(12931-12933)aaafs	p.K4311fs	FAT4_ENST00000335110.5_Frame_Shift_Del_p.K2552fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4311	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCTAATTGGGAAAAATGGAAC	0.403																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(12931-12933)aafs		FAT atypical cadherin 4							82.0	83.0	83.0					4																	126408614		2203	4300	6503	SO:0001589	frameshift_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126408614delA	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12931delA	4.37:g.126408614delA	ENSP00000377862:p.Lys4311fs					FAT4_ENST00000335110.5_Frame_Shift_Del_p.K2552fs	p.K4311fs	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			16	12944	+			4311			Laminin G-like 2.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Frame_Shift_Del	DEL	ENST00000394329.3	37	c.12931delA	CCDS3732.3																																																																																				0.403	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		8	677						8	677	---	---	---	---
CTD-2066L21.3	0	broad.mit.edu	37	5	33162470	33162470	+	lincRNA	DEL	G	G	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:33162470delG	ENST00000510327.1	-	0	346																											GGTTGGACGTGGGGGAATTTC	0.527																																						ENST00000510327.1																			0																																																			0							g.chr5:33162470delG																													5.37:g.33162470delG														0	346	-									RNA	DEL	ENST00000510327.1	37																																																																																						0.527	CTD-2066L21.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366718.1			23	327						23	327	---	---	---	---
CTD-2066L21.3	0	broad.mit.edu	37	5	33162627	33162627	+	lincRNA	DEL	T	T	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:33162627delT	ENST00000510327.1	-	0	346																											AGTGGTAAGATGTCCCACTAC	0.473																																						ENST00000510327.1																			0																																																			0							g.chr5:33162627delT																													5.37:g.33162627delT														0	346	-									RNA	DEL	ENST00000510327.1	37																																																																																						0.473	CTD-2066L21.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366718.1			10	181						10	181	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149216457	149216459	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr5:149216457_149216459delGGA	ENST00000309241.5	+	8	2471_2473	c.2439_2441delGGA	c.(2437-2442)ggggag>ggg	p.E818del	PPARGC1B_ENST00000403750.1_In_Frame_Del_p.E754del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.E779del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.E818del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	818	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			aggaagaaggggaggaggaggag	0.606																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2437-2442)ggg>gg		peroxisome proliferator-activated receptor gamma, coactivator 1 beta																																				SO:0001651	inframe_deletion	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216457_149216459delGGA	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2439_2441delGGA	5.37:g.149216466_149216468delGGA	ENSP00000312649:p.Glu818del					PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del	p.GE813del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2471_2473	+			813			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	In_Frame_Del	DEL	ENST00000309241.5	37	c.2439_2441delGGA	CCDS4298.1																																																																																				0.606	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		13	539						13	539	---	---	---	---
GCM1	8521	broad.mit.edu	37	6	52996784	52996811	+	Splice_Site	DEL	TAACTAACTCAAAAATCCAACCTGGAAA	TAACTAACTCAAAAATCCAACCTGGAAA	-	rs374003490		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr6:52996784_52996811delTAACTAACTCAAAAATCCAACCTGGAAA	ENST00000259803.7	-	4	646_653	c.435_442delTTTCCAGGTTGGATTTTTGAGTTAGTTA	c.(433-444)tttttccaggtt>tttt	p.FQV146fs		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	146					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.?(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					AACTCTCACGTAACTAACTCAAAAATCCAACCTGGAAAAATATAAAGC	0.518																																						ENST00000259803.7																			1	Unknown(1)	p.?(1)	ovary(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24						c.e4+1		glial cells missing homolog 1 (Drosophila)																																				SO:0001630	splice_region_variant	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52996784_52996811delTAACTAACTCAAAAATCCAACCTGGAAA	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.441+1TTTCCAGGTTGGATTTTTGAGTTAGTTA>-	6.37:g.52996784_52996811delTAACTAACTCAAAAATCCAACCTGGAAA							p.F145_splice	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN			4	646_653	-	Lung NSC(77;0.0755)		145					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Splice_Site	DEL	ENST00000259803.7	37	c.441_splice	CCDS4950.1																																																																																				0.518	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1		Frame_Shift_Del	8	161						8	161	---	---	---	---
KLHL38	340359	broad.mit.edu	37	8	124664765	124664792	+	Frame_Shift_Del	DEL	GCTGGGGGCCAACTGGCTCTGCAAGTAC	GCTGGGGGCCAACTGGCTCTGCAAGTAC	-	rs200378303|rs7387544|rs372636699	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr8:124664765_124664792delGCTGGGGGCCAACTGGCTCTGCAAGTAC	ENST00000325995.7	-	1	398_425	c.375_402delGTACTTGCAGAGCCAGTTGGCCCCCAGC	c.(373-402)tcgtacttgcagagccagttggcccccagcfs	p.SYLQSQLAPS125fs	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	125								p.S134R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCAGGCAGTTGCTGGGGGCCAACTGGCTCTGCAAGTACGAGGAGCAGG	0.575																																						ENST00000325995.7																			1	Substitution - Missense(1)	p.S134R(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(373-402)tcfs		kelch-like family member 38																																				SO:0001589	frameshift_variant	340359							g.chr8:124664765_124664792delGCTGGGGGCCAACTGGCTCTGCAAGTAC		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.375_402delGTACTTGCAGAGCCAGTTGGCCCCCAGC	8.37:g.124664765_124664792delGCTGGGGGCCAACTGGCTCTGCAAGTAC	ENSP00000321475:p.Ser125fs					CTD-2552K11.2_ENST00000524355.1_RNA	p.SYLQSQLAPS125fs	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN			1	398_425	-			125					A0PK12	Frame_Shift_Del	DEL	ENST00000325995.7	37	c.375_402delGTACTTGCAGAGCCAGTTGGCCCCCAGC	CCDS43766.1																																																																																				0.575	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			15	279						15	279	---	---	---	---
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-	rs377505007		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:281553_281555delGAG	ENST00000312165.5	+	4	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_ENST00000534750.1_In_Frame_Del_p.E611del	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.67																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1819-1821)del		NLR family, pyrin domain containing 6																																				SO:0001651	inframe_deletion	171389					cytoplasm	ATP binding	g.chr11:281553_281555delGAG	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1819_1821delGAG	11.37:g.281562_281564delGAG	ENSP00000309767:p.Glu611del					NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del	p.E611del	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2024_2026	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	In_Frame_Del	DEL	ENST00000312165.5	37	c.1819_1821delGAG	CCDS7693.1																																																																																				0.670	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		7	563						7	563	---	---	---	---
RARRES3	5920	broad.mit.edu	37	11	63313709	63313709	+	Frame_Shift_Del	DEL	A	A	-	rs547099153		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:63313709delA	ENST00000255688.3	+	4	524	c.476delA	c.(475-477)caafs	p.Q159fs	RARRES3_ENST00000354445.2_Frame_Shift_Del_p.Q159fs|RARRES3_ENST00000537871.1_3'UTR	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	159					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						AGGAGATACCAAAAAAAAGCG	0.537																																						ENST00000255688.3																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(475-477)cafs		retinoic acid receptor responder (tazarotene induced) 3							111.0	127.0	122.0					11																	63313709		1948	4123	6071	SO:0001589	frameshift_variant	5920				lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	g.chr11:63313709delA		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.476delA	11.37:g.63313709delA	ENSP00000255688:p.Gln159fs					RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Frame_Shift_Del_p.Q159fs	p.Q159fs	NM_004585.3	NP_004576.2	Q9UL19	TIG3_HUMAN			4	524	+			159					B2R599|B4DDW2|E7ENZ7|O95200	Frame_Shift_Del	DEL	ENST00000255688.3	37	c.476delA	CCDS41662.1																																																																																				0.537	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1			7	758						7	758	---	---	---	---
SSH3	54961	broad.mit.edu	37	11	67076881	67076899	+	Frame_Shift_Del	DEL	TTGAACATGGCCCGGGAGA	TTGAACATGGCCCGGGAGA	-	rs201014608|rs200425789|rs371608162|rs74859815	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:67076881_67076899delTTGAACATGGCCCGGGAGA	ENST00000308127.4	+	11	1253_1271	c.1075_1093delTTGAACATGGCCCGGGAGA	c.(1075-1095)ttgaacatggcccgggagattfs	p.LNMAREI359fs	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Frame_Shift_Del_p.LNMAREI359fs|SSH3_ENST00000308298.7_Intron	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	359	Tyrosine-protein phosphatase.				protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CACCCACATCTTGAACATGGCCCGGGAGATTGACAACTT	0.635																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1075-1095)ttfs		slingshot protein phosphatase 3																																				SO:0001589	frameshift_variant	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67076881_67076899delTTGAACATGGCCCGGGAGA	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.1075_1093delTTGAACATGGCCCGGGAGA	11.37:g.67076881_67076899delTTGAACATGGCCCGGGAGA	ENSP00000312081:p.Leu359fs					SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Frame_Shift_Del_p.LNMAREI359fs|SSH3_ENST00000308298.7_Intron	p.LNMAREI359fs	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		11	1253_1271	+			359			Tyrosine-protein phosphatase.		Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Frame_Shift_Del	DEL	ENST00000308127.4	37	c.1075_1093delTTGAACATGGCCCGGGAGA	CCDS8157.1																																																																																				0.635	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		24	415						24	415	---	---	---	---
MRPL48	51642	broad.mit.edu	37	11	73555970	73555980	+	Frame_Shift_Del	DEL	CCCAGTATGTT	CCCAGTATGTT	-	rs528945216		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr11:73555970_73555980delCCCAGTATGTT	ENST00000310614.7	+	5	976_986	c.320_330delCCCAGTATGTT	c.(319-330)gcccagtatgttfs	p.AQYV107fs	MRPL48_ENST00000314282.7_Frame_Shift_Del_p.AQYV8fs|MRPL48_ENST00000535529.1_Frame_Shift_Del_p.AQYV89fs|MRPL48_ENST00000398483.3_Frame_Shift_Del_p.AQYV8fs|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000411840.2_Frame_Shift_Del_p.AQYV8fs	NM_016055.5	NP_057139.1	Q96GC5	RM48_HUMAN	mitochondrial ribosomal protein L48	107						mitochondrial ribosome (GO:0005761)				kidney(1)	1						GAGAGTTATGCCCAGTATGTTCACAACCTCT	0.403																																						ENST00000314282.7																			0				kidney(1)	1						c.(22-33)gfs		mitochondrial ribosomal protein L48																																				SO:0001589	frameshift_variant	51642				translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	g.chr11:73555970_73555980delCCCAGTATGTT	AF151876	CCDS44676.1	11q13.4	2012-09-13			ENSG00000175581	ENSG00000175581		"""Mitochondrial ribosomal proteins / large subunits"""	16653	protein-coding gene	gene with protein product		611853				10810093	Standard	NM_016055		Approved	CGI-118	uc001ouh.4	Q96GC5	OTTHUMG00000168048	ENST00000310614.7:c.320_330delCCCAGTATGTT	11.37:g.73555970_73555980delCCCAGTATGTT	ENSP00000308717:p.Ala107fs					MRPL48_ENST00000310614.7_Frame_Shift_Del_p.AQYV107fs|MRPL48_ENST00000398483.3_Frame_Shift_Del_p.AQYV8fs|MRPL48_ENST00000411840.2_Frame_Shift_Del_p.AQYV8fs|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000535529.1_Frame_Shift_Del_p.AQYV89fs	p.AQYV8fs			Q96GC5	RM48_HUMAN			2	1374_1384	+			107					B4DN34|Q49AK7|Q4U2Q4|Q9P091|Q9Y5J0	Frame_Shift_Del	DEL	ENST00000310614.7	37	c.23_33delCCCAGTATGTT	CCDS44676.1																																																																																				0.403	MRPL48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397733.1	NM_016055		40	241						40	241	---	---	---	---
PHC1	1911	broad.mit.edu	37	12	9087018	9087032	+	In_Frame_Del	DEL	ATTCTCACCCACATC	ATTCTCACCCACATC	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:9087018_9087032delATTCTCACCCACATC	ENST00000543824.1	+	11	2529_2543	c.2197_2211delATTCTCACCCACATC	c.(2197-2211)attctcacccacatcdel	p.ILTHI733del	PHC1_ENST00000433083.2_In_Frame_Del_p.ILTHI688del|PHC1_ENST00000544916.1_In_Frame_Del_p.ILTHI733del|PHC1_ENST00000536844.1_In_Frame_Del_p.ILTHI339del			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	733					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GAAGCCCCAGATTCTCACCCACATCATTGAAGGCT	0.544																																						ENST00000433083.2																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(2062-2076)del		polyhomeotic homolog 1 (Drosophila)																																				SO:0001651	inframe_deletion	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9087018_9087032delATTCTCACCCACATC	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2197_2211delATTCTCACCCACATC	12.37:g.9087018_9087032delATTCTCACCCACATC	ENSP00000440674:p.Ile733_Ile737del					PHC1_ENST00000544916.1_In_Frame_Del_p.ILTHI733del|PHC1_ENST00000536844.1_In_Frame_Del_p.ILTHI339del|PHC1_ENST00000543824.1_In_Frame_Del_p.ILTHI733del	p.ILTHI688del			P78364	PHC1_HUMAN			9	2207_2221	+			733					D3DUV4|Q8WVM3|Q9BU63	In_Frame_Del	DEL	ENST00000543824.1	37	c.2062_2076delATTCTCACCCACATC	CCDS8597.1																																																																																				0.544	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		8	507						8	507	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56558379	56558381	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:56558379_56558381delAGG	ENST00000267064.4	-	27	3360_3362	c.3274_3276delCCT	c.(3274-3276)cctdel	p.P1092del	SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000550164.1_In_Frame_Del_p.P1123del|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000394023.3_Intron	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1092	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGATGGAGCAGGAGGAGGAGGA	0.591																																						ENST00000550164.1																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3367-3369)del		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001651	inframe_deletion	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558379_56558381delAGG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3274_3276delCCT	12.37:g.56558388_56558390delAGG	ENSP00000267064:p.Pro1092del					SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron	p.P1123del			Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		28	3381_3383	-			1092	HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694).		Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	In_Frame_Del	DEL	ENST00000267064.4	37	c.3367_3369delCCT	CCDS8907.1																																																																																				0.591	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			7	216						7	216	---	---	---	---
SNRNP35	11066	broad.mit.edu	37	12	123950763	123950764	+	Frame_Shift_Del	DEL	GA	GA	-	rs140314616		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr12:123950763_123950764delGA	ENST00000526639.2	+	2	1255_1256	c.676_677delGA	c.(676-678)gagfs	p.E226fs	SNRNP35_ENST00000412157.2_Frame_Shift_Del_p.E231fs|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Frame_Shift_Del_p.E226fs	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	226	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E226*(1)		NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						CAATGACTGGGAGAGAGAGAGG	0.554																																						ENST00000526639.2																			1	Substitution - Nonsense(1)	p.E226*(1)	NS(1)	NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						c.(676-678)gfs		small nuclear ribonucleoprotein 35kDa (U11/U12)																																				SO:0001589	frameshift_variant	11066				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding	g.chr12:123950763_123950764delGA	BC054034	CCDS9249.1, CCDS45005.1	12q24.31	2013-02-12				ENSG00000184209		"""RNA binding motif (RRM) containing"""	30852	protein-coding gene	gene with protein product	"""U1 snRNP binding protein homolog"""					10520751, 8889548	Standard	XM_005253545		Approved	U1SNRNPBP	uc001ufb.1	Q16560		ENST00000526639.2:c.676_677delGA	12.37:g.123950771_123950772delGA	ENSP00000432595:p.Glu226fs					SNRNP35_ENST00000412157.2_Frame_Shift_Del_p.E231fs|SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Frame_Shift_Del_p.E226fs	p.E226fs	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN			2	1255_1256	+			226			Arg-rich.		A8K262|Q5XKN9	Frame_Shift_Del	DEL	ENST00000526639.2	37	c.676_677delGA	CCDS9249.1																																																																																				0.554	SNRNP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395197.2	NM_007020		7	344						7	344	---	---	---	---
MIR4500HG	642345	broad.mit.edu	37	13	88157968	88157969	+	lincRNA	DEL	AG	AG	-	rs372187504		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr13:88157968_88157969delAG	ENST00000436290.2	-	0	233					NR_033829.1				MIR4500 host gene (non-protein coding)																		acagagaggcagagagagagag	0.45																																						ENST00000436290.2																			0																																																			0							g.chr13:88157968_88157969delAG			13q31.2	2012-10-16			ENSG00000228824	ENSG00000228824		"""Long non-coding RNAs"""	42773	non-coding RNA	RNA, long non-coding							Standard	NR_033829		Approved		uc001vlm.2		OTTHUMG00000017166		13.37:g.88157978_88157979delAG								NR_033829.1						0	233	-									RNA	DEL	ENST00000436290.2	37																																																																																						0.450	MIR4500HG-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000045413.2			2	4						2	4	---	---	---	---
COCH	1690	broad.mit.edu	37	14	31355263	31355270	+	Frame_Shift_Del	DEL	GCTGTACA	GCTGTACA	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:31355263_31355270delGCTGTACA	ENST00000396618.3	+	11	1278_1285	c.1222_1229delGCTGTACA	c.(1222-1230)gctgtacagfs	p.AVQ408fs	RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000475087.1_Frame_Shift_Del_p.AVQ408fs|RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000382493.4_Frame_Shift_Del_p.AVQ259fs|RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000216361.4_Frame_Shift_Del_p.AVQ408fs|COCH_ENST00000460581.2_Frame_Shift_Del_p.AVQ296fs	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	408	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CAAGATAGCTGCTGTACAGTTTACTTAT	0.442																																						ENST00000460581.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19						c.(886-894)gfs		cochlin																																				SO:0001589	frameshift_variant	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31355263_31355270delGCTGTACA		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1222_1229delGCTGTACA	14.37:g.31355263_31355270delGCTGTACA	ENSP00000379862:p.Ala408fs					RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Frame_Shift_Del_p.AVQ408fs|COCH_ENST00000475087.1_Frame_Shift_Del_p.AVQ408fs|COCH_ENST00000396618.3_Frame_Shift_Del_p.AVQ408fs|COCH_ENST00000382493.4_Frame_Shift_Del_p.AVQ259fs	p.AVQ296fs			O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	9	1432_1439	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		408			VWFA 1.		A8K9K9|D3DS84|Q96IU6	Frame_Shift_Del	DEL	ENST00000396618.3	37	c.886_893delGCTGTACA	CCDS9640.1																																																																																				0.442	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		38	417						38	417	---	---	---	---
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	GAG	-	rs139532153		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:89629149_89629151delGAG	ENST00000345097.4	-	7	1196_1198	c.1080_1082delCTC	c.(1078-1083)tcctca>tca	p.360_361SS>S	FOXN3_ENST00000557258.1_In_Frame_Del_p.338_339SS>S|FOXN3_ENST00000261302.5_In_Frame_Del_p.360_361SS>S|FOXN3_ENST00000555353.1_In_Frame_Del_p.338_339SS>S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	360					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.65																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1078-1083)tca>tc		forkhead box N3			,	89,4171		9,71,2050					,	-2.3	1.0			26	192,8028		26,140,3944	no	coding,coding	FOXN3	NM_005197.3,NM_001085471.1	,	35,211,5994	A1A1,A1R,RR		2.3358,2.0892,2.2516	,	,		281,12199				SO:0001651	inframe_deletion	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89629149_89629151delGAG		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1080_1082delCTC	14.37:g.89629158_89629160delGAG	ENSP00000343288:p.Ser361del					FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del	p.SS360del	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			7	1196_1198	-			360					Q96II7|Q9UIE7	In_Frame_Del	DEL	ENST00000345097.4	37	c.1080_1082delCTC	CCDS41977.1																																																																																				0.650	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		8	274						8	274	---	---	---	---
CHGA	1113	broad.mit.edu	37	14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-	rs371215355|rs575196921	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)gagdel	p.E236del	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	236					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AAAGAGAgaagaggaggaggagg	0.645														31	0.0061901	0.0197	0.0029	5008	,	,		19158	0.001		0.0	False		,,,				2504	0.002				Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	ENST00000216492.5																			0				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8						c.(685-687)del		chromogranin A (parathyroid secretory protein 1)																																				SO:0001651	inframe_deletion	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93397924_93397926delGAG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.685_687delGAG	14.37:g.93397933_93397935delGAG	ENSP00000216492:p.Glu236del					CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	p.E236del	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	6	965_967	+		all_cancers(154;0.0843)	236					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	In_Frame_Del	DEL	ENST00000216492.5	37	c.685_687delGAG	CCDS9906.1																																																																																				0.645	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		7	219						7	219	---	---	---	---
DDX24	57062	broad.mit.edu	37	14	94545821	94545823	+	In_Frame_Del	DEL	CCT	CCT	-	rs371331758		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr14:94545821_94545823delCCT	ENST00000330836.5	-	2	397_399	c.266_268delAGG	c.(265-270)gaggga>gga	p.E89del	DDX24_ENST00000555054.1_In_Frame_Del_p.E46del|IFI27L1_ENST00000555523.1_5'Flank|IFI27L1_ENST00000557066.1_5'Flank|IFI27L1_ENST00000393115.3_5'Flank|IFI27L1_ENST00000557218.1_5'Flank|DDX24_ENST00000544005.1_Intron|IFI27L1_ENST00000554544.1_5'Flank|IFI27L1_ENST00000556381.1_5'Flank|IFI27L1_ENST00000553664.1_5'Flank	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	89	Poly-Glu.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTAGACTTTCCCTCCTCCTCCTC	0.443																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(265-270)gga>g		DEAD (Asp-Glu-Ala-Asp) box helicase 24																																				SO:0001651	inframe_deletion	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94545821_94545823delCCT	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.266_268delAGG	14.37:g.94545830_94545832delCCT	ENSP00000328690:p.Glu89del					DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del	p.EG89del	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	2	397_399	-		all_cancers(154;0.12)	89			Poly-Glu.		E7EMJ4|Q4V9L5	In_Frame_Del	DEL	ENST00000330836.5	37	c.266_268delAGG	CCDS9918.1																																																																																				0.443	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		9	818						9	818	---	---	---	---
GOLGA8DP	100132979	broad.mit.edu	37	15	22709778	22709779	+	RNA	DEL	TC	TC	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr15:22709778_22709779delTC	ENST00000314246.8	-	0	1069				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CATGCTACCATCTCTCTCTCTG	0.535																																						ENST00000314246.8																			0																																																			0							g.chr15:22709778_22709779delTC			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709786_22709787delTC														0	1069	-									RNA	DEL	ENST00000314246.8	37																																																																																						0.535	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		8	1237						8	1237	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23312380	23312380	+	RNA	DEL	T	T	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr15:23312380delT	ENST00000560464.1	-	0	3118									hect domain and RLD 2 pseudogene 2																		TGTTAttttcttttttttttt	0.398																																						ENST00000560464.1																			0																																																			0							g.chr15:23312380delT	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23312380delT														0	3118	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.398	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			8	53						8	53	---	---	---	---
RP11-23E10.4	0	broad.mit.edu	37	16	33365793	33365793	+	RNA	DEL	T	T	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr16:33365793delT	ENST00000568520.1	-	0	84																											TTTCTCTCCCTTATGGCTTCT	0.368																																						ENST00000568520.1																			0																																																			0							g.chr16:33365793delT																													16.37:g.33365793delT														0	84	-									RNA	DEL	ENST00000568520.1	37																																																																																						0.368	RP11-23E10.4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432134.1			3	4						3	4	---	---	---	---
RP11-51O6.1	0	broad.mit.edu	37	16	61089598	61089599	+	RNA	INS	-	-	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr16:61089598_61089599insC	ENST00000591758.1	-	0	269_270																											TAGCACCACCAGAAGTCTCAAC	0.426																																						ENST00000591758.1																			0																																																			0							g.chr16:61089598_61089599insC																													16.37:g.61089598_61089599insC														0	269_270	-									RNA	INS	ENST00000591758.1	37																																																																																						0.426	RP11-51O6.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000460612.1			7	333						7	333	---	---	---	---
NPIPB15	440348	broad.mit.edu	37	16	74425400	74425402	+	In_Frame_Del	DEL	CAA	CAA	-	rs370078939		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr16:74425400_74425402delCAA	ENST00000429990.1	+	7	850_852	c.754_756delCAA	c.(754-756)caadel	p.Q253del				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	253	Pro-rich.					extracellular region (GO:0005576)											TCCTCCAACTCAACAACATTCTA	0.517																																						ENST00000429990.1																			0											c.(754-756)del		nuclear pore complex interacting protein family, member B15																																				SO:0001651	inframe_deletion	440348							g.chr16:74425400_74425402delCAA	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.754_756delCAA	16.37:g.74425403_74425405delCAA	ENSP00000411140:p.Gln253del						p.Q253del							7	850_852	+								C9J9U8	In_Frame_Del	DEL	ENST00000429990.1	37	c.754_756delCAA																																																																																					0.517	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	NM_001018059		11	473						11	473	---	---	---	---
KRT16P1	729252	broad.mit.edu	37	17	18345812	18345812	+	RNA	DEL	G	G	-	rs199685110|rs567720363	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:18345812delG	ENST00000581027.1	+	0	1012									keratin 16 pseudogene 1																		AGGCTCCTGAGGCTCCCCGGC	0.617													gg|GG|G|deletion	2049	0.409145	0.4849	0.3919	5008	,	,		21751	0.4335		0.3022	False		,,,				2504	0.4039					ENST00000580052.1																			0																																																			0							g.chr17:18345812delG			17p11.2	2012-08-13	2010-02-25	2010-02-25	ENSG00000214856	ENSG00000214856			6420	pseudogene	pseudogene			"""keratin 14 pseudogene"""	KRT14P			Standard	NR_073414		Approved		uc010vya.2		OTTHUMG00000059249		17.37:g.18345812delG														0	43	+									RNA	DEL	ENST00000581027.1	37																																																																																						0.617	KRT16P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000446576.1	NG_007001		5	8						5	8	---	---	---	---
RNF135	84282	broad.mit.edu	37	17	29325974	29325984	+	Frame_Shift_Del	DEL	GCCAGCTCTCT	GCCAGCTCTCT	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:29325974_29325984delGCCAGCTCTCT	ENST00000328381.5	+	5	1937_1947	c.1064_1074delGCCAGCTCTCT	c.(1063-1074)agccagctctctfs	p.SQLS355fs	RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	355	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				AAGGGGACTAGCCAGCTCTCTGCATGGCACA	0.573																																						ENST00000328381.5																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10						c.(1063-1074)afs		ring finger protein 135																																				SO:0001589	frameshift_variant	84282				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:29325974_29325984delGCCAGCTCTCT	AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"""RING-type (C3HC4) zinc fingers"""	21158	protein-coding gene	gene with protein product	"""riplet"""	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.1064_1074delGCCAGCTCTCT	17.37:g.29325974_29325984delGCCAGCTCTCT	ENSP00000328340:p.Ser355fs					RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR	p.SQLS355fs	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN			5	1937_1947	+		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)	355			B30.2/SPRY.		A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Frame_Shift_Del	DEL	ENST00000328381.5	37	c.1064_1074delGCCAGCTCTCT	CCDS11262.1																																																																																				0.573	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256342.3	NM_032322		35	308						35	308	---	---	---	---
WIPF2	147179	broad.mit.edu	37	17	38421174	38421176	+	In_Frame_Del	DEL	CTC	CTC	-	rs151273872	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr17:38421174_38421176delCTC	ENST00000323571.4	+	5	986_988	c.746_748delCTC	c.(745-750)gctcct>gct	p.P254del	WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_In_Frame_Del_p.P254del|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_In_Frame_Del_p.P254del|WIPF2_ENST00000536600.1_Intron	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	254	Poly-Pro.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CAGTCTCTGGCTCCTCCTCCTCC	0.596										HNSCC(43;0.11)																												ENST00000323571.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						c.(745-750)gct>g		WAS/WASL interacting protein family, member 2																																				SO:0001651	inframe_deletion	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38421174_38421176delCTC	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.746_748delCTC	17.37:g.38421183_38421185delCTC	ENSP00000320924:p.Pro254del	HNSCC(43;0.11)				WIPF2_ENST00000583130.1_In_Frame_Del_p.AP249del|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_In_Frame_Del_p.AP249del	p.AP249del	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN			5	986_988	+			249					A8K0L3|Q658J8|Q71RE1|Q8TE44	In_Frame_Del	DEL	ENST00000323571.4	37	c.746_748delCTC	CCDS11364.1																																																																																				0.596	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		7	1163						7	1163	---	---	---	---
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del|RP11-773H22.4_ENST00000588211.1_RNA	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|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)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		7	284						7	284	---	---	---	---
ZNF812	729648	broad.mit.edu	37	19	9801486	9801489	+	Frame_Shift_Del	DEL	AGTG	AGTG	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:9801486_9801489delAGTG	ENST00000457674.2	-	5	1208_1211	c.690_693delCACT	c.(688-693)ttcactfs	p.FT230fs	ZNF812_ENST00000536819.1_5'UTR	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN	zinc finger protein 812	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1						GAGAAAAATTAGTGAAGGATTTCC	0.353																																						ENST00000457674.2																			0				ovary(1)	1						c.(688-693)ttfs		zinc finger protein 812																																				SO:0001589	frameshift_variant	729648				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9801486_9801489delAGTG		CCDS54215.1	19p13.2	2014-04-02			ENSG00000224689	ENSG00000224689		"""Zinc fingers, C2H2-type"", ""-"""	33242	protein-coding gene	gene with protein product							Standard	NM_001199814		Approved		uc021uop.1	P0C7V5	OTTHUMG00000167867	ENST00000457674.2:c.690_693delCACT	19.37:g.9801486_9801489delAGTG	ENSP00000395629:p.Phe230fs					ZNF812_ENST00000536819.1_5'UTR	p.FT230fs	NM_001199814.1	NP_001186743.1	P0C7V5	ZN812_HUMAN			5	1208_1211	-			230						Frame_Shift_Del	DEL	ENST00000457674.2	37	c.690_693delCACT	CCDS54215.1																																																																																				0.353	ZNF812-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396726.1			19	186						19	186	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-	rs151129136		TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:38882864_38882866delCCT	ENST00000338502.4	+	3	462_464	c.359_361delCCT	c.(358-363)ccctcc>ccc	p.S128del	SPRED3_ENST00000587013.1_In_Frame_Del_p.S172del|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000586301.1_In_Frame_Del_p.S128del	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	128	Ser-rich.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645																																						ENST00000587013.1																			0				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9						c.(490-495)ccc>c		sprouty-related, EVH1 domain containing 3			,	401,4,3395		26,0,349,0,4,1521					,	3.3	0.9		dbSNP_134	44	1035,11,6892		107,0,821,1,9,3031	no	codingComplex,codingComplex	SPRED3	NM_001042522.1,NM_001039616.1	,	133,0,1170,1,13,4552	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1771,10.6579,12.3616	,	,		1436,15,10287				SO:0001651	inframe_deletion	399473				multicellular organismal development			g.chr19:38882864_38882866delCCT		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.359_361delCCT	19.37:g.38882873_38882875delCCT	ENSP00000345405:p.Ser128del					SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR	p.PS164del			Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	569_571	+	all_cancers(60;3.4e-06)		120					Q2MJR1	In_Frame_Del	DEL	ENST00000338502.4	37	c.491_493delCCT	CCDS42560.1																																																																																				0.645	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		9	128						9	128	---	---	---	---
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:47935681_47935683delTCC	ENST00000236877.6	-	9	2525_2527	c.2130_2132delGGA	c.(2128-2133)gaggac>gac	p.E710del	SLC8A2_ENST00000542837.1_In_Frame_Del_p.E466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.E173del|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	710					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616																																						ENST00000236877.6																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31						c.(2128-2133)gac>ga		solute carrier family 8 (sodium/calcium exchanger), member 2																																				SO:0001651	inframe_deletion	6543				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr19:47935681_47935683delTCC	AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.2130_2132delGGA	19.37:g.47935690_47935692delTCC	ENSP00000236877:p.Glu710del					SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del	p.ED710del	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)	9	2525_2527	-		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)	710					B4DYQ9	In_Frame_Del	DEL	ENST00000236877.6	37	c.2130_2132delGGA	CCDS33065.1																																																																																				0.616	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466997.1			21	759						21	759	---	---	---	---
EPS8L1	54869	broad.mit.edu	37	19	55597500	55597501	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:55597500_55597501insA	ENST00000201647.6	+	16	1646_1647	c.1590_1591insA	c.(1591-1593)atcfs	p.I531fs	EPS8L1_ENST00000588359.1_Frame_Shift_Ins_p.I217fs|EPS8L1_ENST00000245618.5_Frame_Shift_Ins_p.I404fs|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000540810.1_Frame_Shift_Ins_p.I467fs	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	531	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TGCCCTACAACATCCTGACACC	0.629																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1588-1593)aatcctfs		EPS8-like 1																																				SO:0001589	frameshift_variant	54869					cytoplasm		g.chr19:55597500_55597501insA	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1591dupA	19.37:g.55597501_55597501dupA	ENSP00000201647:p.Ile531fs					EPS8L1_ENST00000245618.5_Frame_Shift_Ins_p.NP403fs|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000540810.1_Frame_Shift_Ins_p.NP466fs|EPS8L1_ENST00000588359.1_Frame_Shift_Ins_p.NP216fs	p.NP530fs	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	16	1646_1647	+			530			SH3.		Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Frame_Shift_Ins	INS	ENST00000201647.6	37	c.1590_1591insA	CCDS12914.1																																																																																				0.629	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		22	492						22	492	---	---	---	---
DNAAF3	352909	broad.mit.edu	37	19	55670960	55670961	+	In_Frame_Ins	INS	-	-	AGA			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr19:55670960_55670961insAGA	ENST00000524407.2	-	11	1211_1212	c.1178_1179insTCT	c.(1177-1179)ctc>ctTCTc	p.393_393L>LL	DNAAF3_ENST00000587789.2_5'UTR|DNAAF3_ENST00000527223.2_In_Frame_Ins_p.460_460L>LL|TNNI3_ENST00000588882.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000455045.1_In_Frame_Ins_p.339_339L>LL|TNNI3_ENST00000590463.1_5'Flank|DNAAF3_ENST00000391720.4_In_Frame_Ins_p.440_440L>LL|TNNI3_ENST00000344887.5_5'Flank|CTD-2587H24.4_ENST00000587871.1_In_Frame_Ins_p.54_55insS			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	393					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											GCTCAGGGATGAGAAGATGGAC	0.599																																						ENST00000527223.2																			0											c.(1378-1380)cat>cTCTat		dynein, axonemal, assembly factor 3																																				SO:0001652	inframe_insertion	352909							g.chr19:55670960_55670961insAGA	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.1176_1178dupTCT	19.37:g.55670964_55670966dupAGA	ENSP00000432046:p.Leu393dup					CTD-2587H24.4_ENST00000587871.1_In_Frame_Ins_p.54_55SS>SLS|DNAAF3_ENST00000391720.4_In_Frame_Ins_p.440_440H>LY|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000524407.2_In_Frame_Ins_p.393_393H>LY|DNAAF3_ENST00000455045.1_In_Frame_Ins_p.339_339H>LY|DNAAF3_ENST00000587789.2_5'UTR	p.460_460H>LY	NM_001256714.1	NP_001243643.1	Q8N9W5	CS051_HUMAN			11	1380_1381	-			393					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	In_Frame_Ins	INS	ENST00000524407.2	37	c.1379_1380insTCT	CCDS59422.1																																																																																				0.599	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		9	813						9	813	---	---	---	---
DGCR5	26220	broad.mit.edu	37	22	19001654	19001655	+	RNA	DEL	AA	AA	-	rs79891328|rs533985498	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr22:19001654_19001655delAA	ENST00000440005.2	+	0	684				DGCR5_ENST00000424407.1_RNA					DiGeorge syndrome critical region gene 5 (non-protein coding)																		actctatatcaaaaaaaaaaaa	0.446																																						ENST00000440005.2																			0																																																			0							g.chr22:19001654_19001655delAA	X91348		22q11	2012-10-16	2008-08-13		ENSG00000237517	ENSG00000237517		"""Long non-coding RNAs"""	16757	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 37"", ""long intergenic non-protein coding RNA 37"""					8659529	Standard	NR_002733		Approved	NCRNA00037, LINC00037	uc021wku.1		OTTHUMG00000149977		22.37:g.19001664_19001665delAA						DGCR5_ENST00000424407.1_RNA								0	684	+									RNA	DEL	ENST00000440005.2	37																																																																																						0.446	DGCR5-001	KNOWN	basic	antisense	antisense	OTTHUMT00000314911.3	NR_002733		2	4						2	4	---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chr22:30742328_30742330delCTG	ENST00000215793.8	-	3	518_520	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606																																						ENST00000215793.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(364-366)del		splicing factor 3a, subunit 1, 120kDa																																				SO:0001651	inframe_deletion	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30742328_30742330delCTG	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.364_366delCAG	22.37:g.30742337_30742339delCTG	ENSP00000215793:p.Gln122del					SF3A1_ENST00000439242.1_Intron	p.Q122del	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN			3	518_520	-			122			Poly-Gln.		E9PAW1	In_Frame_Del	DEL	ENST00000215793.8	37	c.364_366delCAG	CCDS13875.1																																																																																				0.606	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		8	677						8	677	---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111090417	111090418	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:111090417_111090418insC	ENST00000262839.2	-	6	2542_2543	c.1624_1625insG	c.(1624-1626)tatfs	p.Y542fs		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	542					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCTGGTTTCATAATAGAAGTAA	0.441																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1624-1626)tgafs		transient receptor potential cation channel, subfamily C, member 5																																				SO:0001589	frameshift_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111090417_111090418insC	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1624_1625insG	X.37:g.111090417_111090418insC	ENSP00000262839:p.Tyr542fs						p.*542fs	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			6	2542_2543	-			542					B2RP53|O75233|Q5JXY8|Q9Y514	Frame_Shift_Ins	INS	ENST00000262839.2	37	c.1624_1625insG	CCDS14561.1																																																																																				0.441	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		7	486						7	486	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-7918-01A-11D-2154-08	TCGA-HZ-7918-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37fb4f51-7109-4ef2-9ef5-9524ff4162dd	c38bb93b-3f01-430e-8066-dad94b77cb5a	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433																																						ENST00000370357.4																			2	Substitution - coding silent(2)	p.A229A(2)	lung(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(685-687)del		PAS domain containing 1																																				SO:0001651	inframe_deletion	139135					nucleus	signal transducer activity	g.chrX:150817142_150817144delGCT	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.685_687delGCT	X.37:g.150817151_150817153delGCT	ENSP00000359382:p.Ala236del						p.A236del	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			9	930_932	+	Acute lymphoblastic leukemia(192;6.56e-05)		236			Poly-Ala.		Q3MNE0|Q69HD7|Q8N7X9	In_Frame_Del	DEL	ENST00000370357.4	37	c.685_687delGCT	CCDS35431.1																																																																																				0.433	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		8	518						8	518	---	---	---	---
