#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
CHD1	1105	broad.mit.edu	37	5	98216807	98216807	+	Silent	SNP	T	T	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr5:98216807T>G	ENST00000284049.3	-	21	3182	c.3033A>C	c.(3031-3033)gtA>gtC	p.V1011V		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1011					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATTCATCTCCTACAGTTAAAG	0.294																																						ENST00000284049.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(3031-3033)gtA>gtC		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						71.0	75.0	74.0					5																	98216807		2203	4298	6501	SO:0001819	synonymous_variant	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98216807T>G	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.3033A>C	5.37:g.98216807T>G							p.V1011V	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	21	3182	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1011					Q17RZ3	Silent	SNP	ENST00000284049.3	37	c.3033A>C	CCDS34204.1																																																																																				0.294	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270		14	40	0	0	0	1	0	14	40				
UBR4	23352	broad.mit.edu	37	1	19489045	19489045	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:19489045C>T	ENST00000375254.3	-	35	4852	c.4825G>A	c.(4825-4827)Gcc>Acc	p.A1609T	UBR4_ENST00000375217.2_Missense_Mutation_p.A1609T|UBR4_ENST00000375226.2_Missense_Mutation_p.A1609T|UBR4_ENST00000375267.2_Missense_Mutation_p.A1609T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1609					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGCTCAGGGCATTCGTGACA	0.512																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(4825-4827)Gcc>Acc		ubiquitin protein ligase E3 component n-recognin 4							113.0	97.0	103.0					1																	19489045		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19489045C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4825G>A	1.37:g.19489045C>T	ENSP00000364403:p.Ala1609Thr					UBR4_ENST00000375254.3_Missense_Mutation_p.A1609T|UBR4_ENST00000375226.2_Missense_Mutation_p.A1609T|UBR4_ENST00000375217.2_Missense_Mutation_p.A1609T	p.A1609T			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	35	4828	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1609					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.4825G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	36	5.607544	0.96626	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	L	0.50333	1.59	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.78831	-0.2049	10	0.66056	D	0.02	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	1609	Q5T4S7	UBR4_HUMAN	T	1609;1609;1609;1609;319;825	ENSP00000364403:A1609T;ENSP00000364416:A1609T;ENSP00000364365:A1609T;ENSP00000364374:A1609T	ENSP00000364365:A1609T	A	-	1	0	UBR4	19361632	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.440000	0.80464	2.847000	0.97988	0.591000	0.81541	GCC		0.512	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		6	89	0	0	0	1	0	6	89				
ZBTB34	403341	broad.mit.edu	37	9	129641861	129641861	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr9:129641861C>G	ENST00000373452.2	+	1	235	c.171C>G	c.(169-171)ttC>ttG	p.F57L	ZBTB34_ENST00000319119.4_Missense_Mutation_p.F61L			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	57	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CCCCATATTTCCGGGACCATT	0.463																																						ENST00000319119.4																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(181-183)ttC>ttG		zinc finger and BTB domain containing 34							118.0	126.0	123.0					9																	129641861		2035	4176	6211	SO:0001583	missense	403341				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129641861C>G	DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.171C>G	9.37:g.129641861C>G	ENSP00000362551:p.Phe57Leu					ZBTB34_ENST00000373452.2_Missense_Mutation_p.F57L	p.F61L	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN			2	268	+			57			BTB.		Q38IA7|Q5VYE9	Missense_Mutation	SNP	ENST00000373452.2	37	c.183C>G	CCDS48023.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351494	0.61183	.	.	ENSG00000177125	ENST00000319119;ENST00000373452	D;D	0.84944	-1.92;-1.92	5.53	3.66	0.41972	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.85212	0.5645	M	0.74389	2.26	0.58432	D	0.999997	B	0.29301	0.241	B	0.35770	0.21	D	0.84215	0.0458	10	0.44086	T	0.13	.	12.298	0.54859	0.0:0.8035:0.0:0.1965	.	57	Q8NCN2	ZBT34_HUMAN	L	61;57	ENSP00000317534:F61L;ENSP00000362551:F57L	ENSP00000317534:F61L	F	+	3	2	ZBTB34	128681682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.036000	0.49767	1.463000	0.47967	0.655000	0.94253	TTC		0.463	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		6	97	0	0	0	1	0	6	97				
KRTAP5-1	387264	broad.mit.edu	37	11	1605854	1605854	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:1605854C>T	ENST00000382171.2	-	1	659	c.626G>A	c.(625-627)gGt>gAt	p.G209D	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	209	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACGGGCACACCGCAGCCGGA	0.662																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(625-627)gGt>gAt		keratin associated protein 5-1							75.0	83.0	80.0					11																	1605854		2202	4299	6501	SO:0001583	missense	387264					keratin filament		g.chr11:1605854C>T	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.626G>A	11.37:g.1605854C>T	ENSP00000371606:p.Gly209Asp					KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	p.G209D	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	659	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	209			8 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000382171.2	37	c.626G>A	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	c	6.627	0.484064	0.12581	.	.	ENSG00000205869	ENST00000382171	T	0.05081	3.5	3.78	2.84	0.33178	.	.	.	.	.	T	0.05686	0.0149	L	0.27053	0.805	0.09310	N	1	B	0.32160	0.358	B	0.29785	0.107	T	0.33548	-0.9864	9	0.72032	D	0.01	.	10.8656	0.46853	0.0:0.8063:0.1937:0.0	.	209	Q6L8H4	KRA51_HUMAN	D	209	ENSP00000371606:G209D	ENSP00000371606:G209D	G	-	2	0	KRTAP5-1	1562430	0.723000	0.28027	0.004000	0.12327	0.154000	0.21943	2.256000	0.43231	0.558000	0.29135	0.186000	0.17326	GGT		0.662	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		10	72	0	0	0	1	0	10	72				
ZC3H13	23091	broad.mit.edu	37	13	46542010	46542010	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr13:46542010T>A	ENST00000242848.4	-	15	4298	c.3950A>T	c.(3949-3951)gAt>gTt	p.D1317V	ZC3H13_ENST00000282007.3_Missense_Mutation_p.D1317V|ZC3H13_ENST00000378921.2_Missense_Mutation_p.D273V			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1317							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ctgcctcgtatctctcctctc	0.502																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(3949-3951)gAt>gTt		zinc finger CCCH-type containing 13							310.0	213.0	246.0					13																	46542010		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46542010T>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3950A>T	13.37:g.46542010T>A	ENSP00000242848:p.Asp1317Val					ZC3H13_ENST00000378921.2_Missense_Mutation_p.D273V|ZC3H13_ENST00000282007.3_Missense_Mutation_p.D1317V	p.D1317V			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	15	4298	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1317					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.3950A>T		.	.	.	.	.	.	.	.	.	.	T	13.89	2.373511	0.42105	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	T;T;T	0.35421	2.31;2.01;1.31	4.98	4.98	0.66077	.	0.108239	0.40064	N	0.001185	T	0.28366	0.0701	L	0.36672	1.1	0.80722	D	1	B;B	0.16802	0.011;0.019	B;B	0.18263	0.009;0.021	T	0.07462	-1.0771	10	0.42905	T	0.14	.	9.9729	0.41765	0.1513:0.0:0.0:0.8487	.	1317;1317	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	V	1317;273;1317	ENSP00000242848:D1317V;ENSP00000368201:D273V;ENSP00000282007:D1317V	ENSP00000242848:D1317V	D	-	2	0	ZC3H13	45440011	0.999000	0.42202	0.892000	0.35008	0.692000	0.40212	3.480000	0.53172	1.992000	0.58205	0.482000	0.46254	GAT		0.502	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		17	58	0	0	0	1	0	17	58				
RYR1	6261	broad.mit.edu	37	19	38976759	38976759	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr19:38976759G>A	ENST00000359596.3	+	34	5464	c.5464G>A	c.(5464-5466)Ggt>Agt	p.G1822S	RYR1_ENST00000355481.4_Missense_Mutation_p.G1822S|RYR1_ENST00000360985.3_Missense_Mutation_p.G1822S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1822	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.G1822C(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGTGCGCGACGGTGGGCAGCA	0.701																																						ENST00000355481.4																			1	Substitution - Missense(1)	p.G1822C(1)	lung(1)	NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5464-5466)Ggt>Agt		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						67.0	66.0	66.0					19																	38976759		2202	4293	6495	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976759G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5464G>A	19.37:g.38976759G>A	ENSP00000352608:p.Gly1822Ser					RYR1_ENST00000360985.3_Missense_Mutation_p.G1822S|RYR1_ENST00000359596.3_Missense_Mutation_p.G1822S	p.G1822S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5595	+	all_cancers(60;7.91e-06)		1822			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.5464G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929860	0.52759	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.72835	-0.69;-0.69;-0.69	3.7	3.7	0.42460	.	0.000000	0.64402	U	0.000003	T	0.71863	0.3390	L	0.33485	1.01	0.46542	D	0.99909	D;P	0.89917	1.0;0.909	D;P	0.91635	0.999;0.588	T	0.65907	-0.6054	10	0.14656	T	0.56	.	10.4488	0.44509	0.1008:0.0:0.8992:0.0	.	1822;1822	P21817-2;P21817	.;RYR1_HUMAN	S	1822	ENSP00000352608:G1822S;ENSP00000347667:G1822S;ENSP00000354254:G1822S	ENSP00000347667:G1822S	G	+	1	0	RYR1	43668599	1.000000	0.71417	0.084000	0.20598	0.774000	0.43823	5.449000	0.66619	1.886000	0.54624	0.585000	0.79938	GGT		0.701	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			13	66	0	0	0	1	0	13	66				
DNAH17	8632	broad.mit.edu	37	17	76462786	76462786	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr17:76462786G>A	ENST00000585328.1	-	56	9000	c.8876C>T	c.(8875-8877)gCg>gTg	p.A2959V	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.A2950V	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2950	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGACACCAGCGCATCTTCCGG	0.627																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(8848-8850)gCg>gTg		dynein, axonemal, heavy chain 17							37.0	44.0	42.0					17																	76462786		2124	4265	6389	SO:0001583	missense	8632							g.chr17:76462786G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8876C>T	17.37:g.76462786G>A	ENSP00000465516:p.Ala2959Val					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.A2959V	p.A2950V					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		56	8973	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.8849C>T		.	.	.	.	.	.	.	.	.	.	G	31	5.095008	0.94197	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.55930	0.49	5.07	5.07	0.68467	.	.	.	.	.	D	0.86665	0.5987	H	0.99927	4.965	0.54753	D	0.999989	.	.	.	.	.	.	D	0.93448	0.6799	7	0.72032	D	0.01	.	18.4655	0.90753	0.0:0.0:1.0:0.0	.	.	.	.	V	2959;2950	ENSP00000374490:A2950V	ENSP00000300671:A2959V	A	-	2	0	DNAH17	73974381	1.000000	0.71417	0.997000	0.53966	0.741000	0.42261	9.262000	0.95591	2.364000	0.80123	0.655000	0.94253	GCG		0.627	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	20	0	0	0	1	0	4	20				
VPS35	55737	broad.mit.edu	37	16	46694501	46694501	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr16:46694501T>G	ENST00000299138.7	-	17	2332	c.2274A>C	c.(2272-2274)gaA>gaC	p.E758D	RP11-93O14.2_ENST00000569353.1_RNA	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	758					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CTTCACTGGATTCAAGATTCG	0.408																																						ENST00000299138.7																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23						c.(2272-2274)gaA>gaC		vacuolar protein sorting 35 homolog (S. cerevisiae)							92.0	90.0	91.0					16																	46694501		2203	4300	6503	SO:0001583	missense	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46694501T>G	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.2274A>C	16.37:g.46694501T>G	ENSP00000299138:p.Glu758Asp						p.E758D	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN			17	2332	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	758					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	c.2274A>C	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	11.48	1.650887	0.29336	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.65732	-0.17	5.64	1.38	0.22167	.	0.044760	0.85682	D	0.000000	T	0.43299	0.1241	L	0.36672	1.1	0.58432	D	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.11446	-1.0587	10	0.18710	T	0.47	-22.1363	5.4343	0.16472	0.1254:0.5292:0.0:0.3454	.	758	Q96QK1	VPS35_HUMAN	D	758;624	ENSP00000299138:E758D	ENSP00000299138:E758D	E	-	3	2	VPS35	45252002	0.880000	0.30214	1.000000	0.80357	0.972000	0.66771	0.016000	0.13377	0.330000	0.23485	-0.624000	0.04008	GAA		0.408	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			15	69	0	0	0	1	0	15	69				
KMT2D	8085	broad.mit.edu	37	12	49420990	49420990	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr12:49420990G>C	ENST00000301067.7	-	48	14758	c.14759C>G	c.(14758-14760)cCc>cGc	p.P4920R		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4920	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGGTGCCAAGGGGGAAGGGGG	0.627																																						ENST00000301067.7																			0											c.(14758-14760)cCc>cGc		lysine (K)-specific methyltransferase 2D							37.0	43.0	41.0					12																	49420990		1848	4046	5894	SO:0001583	missense	8085							g.chr12:49420990G>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14759C>G	12.37:g.49420990G>C	ENSP00000301067:p.Pro4920Arg						p.P4920R	NM_003482.3	NP_003473.3					48	14758	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.14759C>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	9.162	1.019044	0.19355	.	.	ENSG00000167548	ENST00000301067	T	0.81078	-1.45	4.21	3.32	0.38043	.	0.000000	0.33916	N	0.004430	D	0.84906	0.5576	L	0.52011	1.625	0.47094	D	0.999314	D	0.76494	0.999	D	0.70716	0.97	D	0.85544	0.1217	10	0.87932	D	0	.	11.2213	0.48857	0.0921:0.0:0.9079:0.0	.	4920	O14686	MLL2_HUMAN	R	4920	ENSP00000301067:P4920R	ENSP00000301067:P4920R	P	-	2	0	MLL2	47707257	.	.	0.999000	0.59377	0.998000	0.95712	.	.	1.128000	0.42052	0.650000	0.86243	CCC		0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			7	48	0	0	0	1	0	7	48				
PLCB4	5332	broad.mit.edu	37	20	9370528	9370528	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr20:9370528T>G	ENST00000378493.1	+	13	1176	c.1161T>G	c.(1159-1161)gaT>gaG	p.D387E	PLCB4_ENST00000414679.2_Missense_Mutation_p.D387E|PLCB4_ENST00000378473.3_Missense_Mutation_p.D387E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.D387E|PLCB4_ENST00000278655.4_Missense_Mutation_p.D387E|PLCB4_ENST00000334005.3_Missense_Mutation_p.D387E			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	387	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTTAAAGGATGTAATTCAAG	0.333																																						ENST00000378501.2																			0				NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						c.(1159-1161)gaT>gaG		phospholipase C, beta 4							90.0	88.0	89.0					20																	9370528		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9370528T>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1161T>G	20.37:g.9370528T>G	ENSP00000367754:p.Asp387Glu					PLCB4_ENST00000414679.2_Missense_Mutation_p.D387E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.D387E|PLCB4_ENST00000378473.3_Missense_Mutation_p.D387E|PLCB4_ENST00000378493.1_Missense_Mutation_p.D387E|PLCB4_ENST00000278655.4_Missense_Mutation_p.D387E	p.D387E	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN			13	1176	+			387			PI-PLC X-box.		B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.1161T>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	T	19.27	3.795684	0.70452	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.65	5.65	0.86999	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.145288	0.64402	D	0.000008	T	0.51753	0.1693	L	0.42529	1.33	0.58432	D	0.999994	P;P;B;P	0.44241	0.829;0.568;0.361;0.67	B;B;B;B	0.38296	0.16;0.27;0.23;0.205	T	0.54682	-0.8257	10	0.41790	T	0.15	.	10.988	0.47532	0.0:0.0726:0.0:0.9274	.	387;234;387;387	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	E	387;387;387;387;387;223	ENSP00000334105:D387E;ENSP00000367734:D387E;ENSP00000278655:D387E;ENSP00000367754:D387E;ENSP00000367762:D387E;ENSP00000390616:D223E	ENSP00000278655:D387E	D	+	3	2	PLCB4	9318528	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.284000	0.51708	2.139000	0.66308	0.533000	0.62120	GAT		0.333	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			12	72	0	0	0	1	0	12	72				
FAM126B	285172	broad.mit.edu	37	2	201846387	201846387	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr2:201846387C>T	ENST00000418596.3	-	12	1386	c.1199G>A	c.(1198-1200)cGa>cAa	p.R400Q	AC005037.3_ENST00000413848.1_RNA|AC005037.3_ENST00000332935.6_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	400						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TACTGAATCTCGAGGGCTCTC	0.483																																						ENST00000418596.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(1198-1200)cGa>cAa		family with sequence similarity 126, member B							105.0	104.0	104.0					2																	201846387		2203	4300	6503	SO:0001583	missense	285172					intracellular		g.chr2:201846387C>T	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1199G>A	2.37:g.201846387C>T	ENSP00000393667:p.Arg400Gln					AC005037.3_ENST00000413848.1_RNA	p.R400Q	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN			12	1386	-			400					B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	c.1199G>A	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208301	0.39003	.	.	ENSG00000155744	ENST00000418596	T	0.78003	-1.14	5.76	5.76	0.90799	.	0.628982	0.15721	N	0.247909	T	0.75817	0.3901	L	0.50333	1.59	0.47778	D	0.999517	D;D	0.59767	0.986;0.962	B;B	0.42495	0.389;0.267	T	0.74325	-0.3702	10	0.28530	T	0.3	-7.3086	19.9664	0.97271	0.0:1.0:0.0:0.0	.	206;400	B3KUG1;Q8IXS8	.;F126B_HUMAN	Q	400	ENSP00000393667:R400Q	ENSP00000393667:R400Q	R	-	2	0	FAM126B	201554632	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.152000	0.64882	2.718000	0.92993	0.655000	0.94253	CGA		0.483	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		16	29	0	0	0	1	0	16	29				
GALNT15	117248	broad.mit.edu	37	3	16252698	16252698	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr3:16252698G>A	ENST00000339732.5	+	5	1650	c.1147G>A	c.(1147-1149)Gac>Aac	p.D383N	GALNT15_ENST00000437509.1_Missense_Mutation_p.D383N	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	383	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TGGAGCGTATGACTCTCTTAT	0.547																																						ENST00000339732.5																			0											c.(1147-1149)Gac>Aac		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15							161.0	132.0	142.0					3																	16252698		2203	4300	6503	SO:0001583	missense	117248							g.chr3:16252698G>A	AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1147G>A	3.37:g.16252698G>A	ENSP00000344260:p.Asp383Asn					GALNT15_ENST00000437509.1_Missense_Mutation_p.D383N	p.D383N	NM_054110.4	NP_473451.3					5	1650	+								A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Missense_Mutation	SNP	ENST00000339732.5	37	c.1147G>A	CCDS33711.1	.	.	.	.	.	.	.	.	.	.	G	34	5.379967	0.95945	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	T;T	0.65549	-0.16;-0.16	5.92	5.92	0.95590	.	0.048377	0.85682	D	0.000000	T	0.79293	0.4421	M	0.88241	2.94	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	T	0.82967	-0.0194	10	0.87932	D	0	.	19.9157	0.97061	0.0:0.0:1.0:0.0	.	383	Q8N3T1	GLTL2_HUMAN	N	383	ENSP00000344260:D383N;ENSP00000395873:D383N	ENSP00000344260:D383N	D	+	1	0	GALNTL2	16227702	1.000000	0.71417	0.946000	0.38457	0.819000	0.46315	8.621000	0.90949	2.813000	0.96785	0.561000	0.74099	GAC		0.547	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346483.2	NM_054110		17	59	0	0	0	1	0	17	59				
OPRM1	4988	broad.mit.edu	37	6	154412384	154412384	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr6:154412384C>T	ENST00000330432.7	+	3	1178	c.941C>T	c.(940-942)aCg>aTg	p.T314M	OPRM1_ENST00000428397.2_Missense_Mutation_p.T314M|OPRM1_ENST00000414028.2_Missense_Mutation_p.T314M|OPRM1_ENST00000435918.2_Missense_Mutation_p.T314M|OPRM1_ENST00000522236.1_Missense_Mutation_p.T214M|OPRM1_ENST00000337049.4_Missense_Mutation_p.T314M|OPRM1_ENST00000518759.1_Missense_Mutation_p.T233M|OPRM1_ENST00000419506.2_Missense_Mutation_p.T314M|OPRM1_ENST00000434900.2_Missense_Mutation_p.T407M|OPRM1_ENST00000452687.2_Missense_Mutation_p.T314M|OPRM1_ENST00000524163.1_Missense_Mutation_p.T314M|OPRM1_ENST00000520708.1_Missense_Mutation_p.T214M|OPRM1_ENST00000360422.4_Missense_Mutation_p.T314M|OPRM1_ENST00000522555.1_Missense_Mutation_p.T214M|OPRM1_ENST00000229768.5_Missense_Mutation_p.T314M	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	314					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CCAGAAACTACGTTCCAGACT	0.463																																						ENST00000414028.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(940-942)aCg>aTg		opioid receptor, mu 1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)						142.0	153.0	149.0					6																	154412384		2179	4295	6474	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412384C>T	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.941C>T	6.37:g.154412384C>T	ENSP00000328264:p.Thr314Met					OPRM1_ENST00000419506.2_Missense_Mutation_p.T314M|OPRM1_ENST00000518759.1_Missense_Mutation_p.T233M|OPRM1_ENST00000360422.4_Missense_Mutation_p.T314M|OPRM1_ENST00000522236.1_Missense_Mutation_p.T214M|OPRM1_ENST00000435918.2_Missense_Mutation_p.T314M|OPRM1_ENST00000520708.1_Missense_Mutation_p.T214M|OPRM1_ENST00000524163.1_Missense_Mutation_p.T314M|OPRM1_ENST00000229768.5_Missense_Mutation_p.T314M|OPRM1_ENST00000337049.4_Missense_Mutation_p.T314M|OPRM1_ENST00000452687.2_Missense_Mutation_p.T314M|OPRM1_ENST00000428397.2_Missense_Mutation_p.T314M|OPRM1_ENST00000522555.1_Missense_Mutation_p.T214M|OPRM1_ENST00000434900.2_Missense_Mutation_p.T407M|OPRM1_ENST00000330432.7_Missense_Mutation_p.T314M	p.T314M	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	991	+		Ovarian(120;0.196)	314					B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.941C>T	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485575	0.44147	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.86	5.86	0.93980	GPCR, rhodopsin-like superfamily (1);	0.267599	0.42294	D	0.000725	T	0.36635	0.0974	L	0.46885	1.475	0.33567	D	0.59813	D;P;P;D;D;P;P;P;D;D;P;P	0.61697	0.99;0.956;0.956;0.982;0.984;0.827;0.653;0.956;0.964;0.978;0.956;0.956	P;P;P;P;P;P;B;P;P;P;P;P	0.58013	0.624;0.592;0.592;0.702;0.831;0.513;0.39;0.56;0.715;0.673;0.673;0.473	T	0.26985	-1.0087	10	0.49607	T	0.09	.	13.3896	0.60816	0.0:0.9284:0.0:0.0716	.	314;314;314;314;407;233;214;314;314;314;314;314	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	M	407;214;233;314;314;314;314;314;314;314;314;314;314;214;214	ENSP00000394624:T407M;ENSP00000430876:T214M;ENSP00000430260:T233M;ENSP00000328264:T314M;ENSP00000353598:T314M;ENSP00000411903:T314M;ENSP00000410497:T314M;ENSP00000229768:T314M;ENSP00000403549:T314M;ENSP00000430097:T314M;ENSP00000399359:T314M;ENSP00000413752:T314M;ENSP00000338381:T314M;ENSP00000429719:T214M;ENSP00000429373:T214M	ENSP00000229768:T314M	T	+	2	0	OPRM1	154454077	0.937000	0.31787	0.855000	0.33649	0.664000	0.39144	2.302000	0.43637	2.774000	0.95407	0.650000	0.86243	ACG		0.463	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914		19	75	0	0	0	1	0	19	75				
GPC4	2239	broad.mit.edu	37	X	132437323	132437323	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chrX:132437323T>A	ENST00000370828.3	-	8	1863	c.1339A>T	c.(1339-1341)Aac>Tac	p.N447Y	GPC4_ENST00000535467.1_Missense_Mutation_p.N377Y	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	447					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					ACCTCTGGGTTGTTGCCCTGG	0.443																																						ENST00000370828.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1339-1341)Aac>Tac		glypican 4							179.0	137.0	151.0					X																	132437323		2203	4300	6503	SO:0001583	missense	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132437323T>A	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.1339A>T	X.37:g.132437323T>A	ENSP00000359864:p.Asn447Tyr					GPC4_ENST00000535467.1_Missense_Mutation_p.N377Y	p.N447Y	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN			8	1863	-	Acute lymphoblastic leukemia(192;0.000127)		447					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	c.1339A>T	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.999361	0.74818	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.58210	0.35;0.35	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.77212	0.4097	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82436	-0.0458	10	0.87932	D	0	-14.0574	13.9179	0.63911	0.0:0.0:0.0:1.0	.	447	O75487	GPC4_HUMAN	Y	447;441;377	ENSP00000359864:N447Y;ENSP00000444959:N377Y	ENSP00000359864:N447Y	N	-	1	0	GPC4	132264989	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	8.040000	0.89188	1.883000	0.54544	0.486000	0.48141	AAC		0.443	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		3	49	0	0	0	1	0	3	49				
ITPR3	3710	broad.mit.edu	37	6	33657844	33657844	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr6:33657844G>A	ENST00000374316.5	+	52	7961	c.6901G>A	c.(6901-6903)Gtg>Atg	p.V2301M	ITPR3_ENST00000605930.1_Missense_Mutation_p.V2301M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2301					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GGTGAGCTTCGTGGGCAACCG	0.572																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(6901-6903)Gtg>Atg		inositol 1,4,5-trisphosphate receptor, type 3							147.0	123.0	131.0					6																	33657844		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33657844G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6901G>A	6.37:g.33657844G>A	ENSP00000363435:p.Val2301Met					ITPR3_ENST00000605930.1_Missense_Mutation_p.V2301M	p.V2301M			Q14573	ITPR3_HUMAN			52	7961	+			2301					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.6901G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706863	0.89018	.	.	ENSG00000096433	ENST00000374316	D	0.98531	-4.98	5.4	5.4	0.78164	Ion transport (1);	0.124557	0.53938	D	0.000057	D	0.98027	0.9350	L	0.42529	1.33	0.80722	D	1	D;D	0.76494	0.999;0.99	D;P	0.78314	0.991;0.894	D	0.97344	0.9959	10	0.28530	T	0.3	-30.4791	19.1858	0.93644	0.0:0.0:1.0:0.0	.	2301;1971	Q14573;Q59ES2	ITPR3_HUMAN;.	M	2301	ENSP00000363435:V2301M	ENSP00000363435:V2301M	V	+	1	0	ITPR3	33765822	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.004000	0.88535	2.559000	0.86315	0.462000	0.41574	GTG		0.572	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		3	62	0	0	0	1	0	3	62				
SDHB	6390	broad.mit.edu	37	1	17355219	17355219	+	Missense_Mutation	SNP	G	G	A	rs121917755		TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:17355219G>A	ENST00000375499.3	-	4	449	c.299C>T	c.(298-300)tCt>tTt	p.S100F		NM_003000.2	NP_002991.2	P21912	SDHB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	100	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.		S -> F (in pheochromocytoma; absence of expression in tumor cells indicating complete loss of SDHB function). {ECO:0000269|PubMed:17634472}.		aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)|ubiquinone binding (GO:0048039)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	CATTGCACAAGAGCCACAGAT	0.468			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome																													ENST00000375499.3			yes	Rec		Familial paraganglioma	1	1p36.1-p35	6390	"""Mis, N, F"""	"""succinate dehydrogenase complex, subunit B, iron sulfur (Ip)"""			O		"""paraganglioma, pheochromocytoma"""			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10						c.(298-300)tCt>tTt		succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	Succinic acid(DB00139)						219.0	181.0	194.0					1																	17355219		2203	4300	6503	SO:0001583	missense	6390	Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding	g.chr1:17355219G>A	U17248	CCDS176.1	1p36.1-p35	2014-09-17			ENSG00000117118	ENSG00000117118	1.3.99.1	"""Mitochondrial respiratory chain complex / Complex II"""	10681	protein-coding gene	gene with protein product		185470		SDH1, SDH			Standard	NM_003000		Approved		uc001bae.3	P21912	OTTHUMG00000002289	ENST00000375499.3:c.299C>T	1.37:g.17355219G>A	ENSP00000364649:p.Ser100Phe						p.S100F	NM_003000.2	NP_002991.2	P21912	DHSB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	4	449	-		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	100		S -> F (in pheochromocytoma; absence of expression in tumor cells indicating complete loss of SDHB function).	2Fe-2S ferredoxin-type.		B2R545|Q0QEY7|Q9NQ12	Missense_Mutation	SNP	ENST00000375499.3	37	c.299C>T	CCDS176.1	.	.	.	.	.	.	.	.	.	.	G	33	5.209374	0.95069	.	.	ENSG00000117118	ENST00000375499	D	0.99129	-5.46	6.17	6.17	0.99709	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99736	0.9896	H	0.99859	4.855	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97084	0.9786	9	0.87932	D	0	-21.0619	19.4432	0.94831	0.0:0.0:1.0:0.0	.	100	P21912	DHSB_HUMAN	F	100	ENSP00000364649:S100F	ENSP00000364649:S100F	S	-	2	0	SDHB	17227806	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.045000	0.93812	2.941000	0.99782	0.655000	0.94253	TCT		0.468	SDHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006603.1	NM_003000		8	100	0	0	0	1	0	8	100				
TCF7L2	6934	broad.mit.edu	37	10	114925329	114925329	+	Silent	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr10:114925329C>T	ENST00000355995.4	+	15	1965	c.1458C>T	c.(1456-1458)tgC>tgT	p.C486C	TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000545257.1_Silent_p.C486C|TCF7L2_ENST00000542695.1_Silent_p.C202C|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000543371.1_Silent_p.C469C|TCF7L2_ENST00000355717.4_Missense_Mutation_p.A469V|TCF7L2_ENST00000536810.1_Silent_p.C469C|TCF7L2_ENST00000369389.1_Missense_Mutation_p.A156V|TCF7L2_ENST00000352065.5_3'UTR|TCF7L2_ENST00000538897.1_Missense_Mutation_p.A462V|TCF7L2_ENST00000369397.4_Silent_p.C463C			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	486	Promoter-specific activation domain.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		AAAAAAAGTGCGTTCGCTACA	0.527			T	VTI1A	colorectal																																	ENST00000355717.4				Dom	yes		10	10q25.3	6934	T	transcription factor 7-like 2			E	VTI1A		colorectal	VTI1A/TCF7L2(8)	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41						c.(1405-1407)gCg>gTg		transcription factor 7-like 2 (T-cell specific, HMG-box)							98.0	106.0	103.0					10																	114925329		2203	4300	6503	SO:0001819	synonymous_variant	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114925329C>T	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1458C>T	10.37:g.114925329C>T						TCF7L2_ENST00000538897.1_Missense_Mutation_p.A462V|TCF7L2_ENST00000355995.4_Silent_p.C486C|TCF7L2_ENST00000369397.4_Silent_p.C463C|TCF7L2_ENST00000542695.1_Silent_p.C202C|TCF7L2_ENST00000545257.1_Silent_p.C486C|TCF7L2_ENST00000352065.5_3'UTR|TCF7L2_ENST00000543371.1_Silent_p.C469C|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000369389.1_Missense_Mutation_p.A156V|TCF7L2_ENST00000536810.1_Silent_p.C469C	p.A469V	NM_001146283.1|NM_001146286.1|NM_001198530.1	NP_001139755.1|NP_001139758.1|NP_001185459.1	Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	13	1913	+		Breast(234;0.058)|Colorectal(252;0.0615)	0			Promoter-specific activation domain.		B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37	c.1406C>T		.	.	.	.	.	.	.	.	.	.	C	26.7	4.760660	0.89932	.	.	ENSG00000148737	ENST00000355717;ENST00000538897;ENST00000369389	D;D;D	0.99207	-5.54;-5.53;-5.56	5.47	5.47	0.80525	.	.	.	.	.	D	0.98738	0.9576	.	.	.	0.80722	D	1	D;B;B;B;D;B;B	0.62365	0.991;0.021;0.021;0.029;0.958;0.108;0.035	P;B;B;B;B;B;B	0.47162	0.54;0.003;0.005;0.01;0.27;0.017;0.007	D	0.99844	1.1064	8	0.59425	D	0.04	-18.1715	19.3381	0.94329	0.0:1.0:0.0:0.0	.	361;422;388;445;439;469;435	B4DWD5;B4DRJ8;C6ZRK2;B9X074;C6ZRK1;F8W7T5;Q9NQB0-10	.;.;.;.;.;.;.	V	469;462;156	ENSP00000347949:A469V;ENSP00000446172:A462V;ENSP00000358396:A156V	ENSP00000347949:A469V	A	+	2	0	TCF7L2	114915319	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.765000	0.68834	2.558000	0.86282	0.655000	0.94253	GCG		0.527	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756		5	112	0	0	0	1	0	5	112				
IGSF10	285313	broad.mit.edu	37	3	151165279	151165279	+	Silent	SNP	A	A	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr3:151165279A>G	ENST00000282466.3	-	4	2489	c.2490T>C	c.(2488-2490)gaT>gaC	p.D830D		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	830					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCATAGGACTATCAGATATTG	0.433																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(2488-2490)gaT>gaC		immunoglobulin superfamily, member 10							150.0	155.0	154.0					3																	151165279		2203	4300	6503	SO:0001819	synonymous_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151165279A>G	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2490T>C	3.37:g.151165279A>G							p.D830D	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	2489	-			830					Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	c.2490T>C	CCDS3160.1																																																																																				0.433	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		6	119	0	0	0	1	0	6	119				
RNF144A	9781	broad.mit.edu	37	2	7179870	7179870	+	Silent	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr2:7179870C>T	ENST00000320892.6	+	9	1300	c.858C>T	c.(856-858)gaC>gaT	p.D286D		NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	286					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		GTAAAGGTGACGACGACCCGT	0.582																																						ENST00000320892.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25						c.(856-858)gaC>gaT		ring finger protein 144A							124.0	102.0	110.0					2																	7179870		2203	4300	6503	SO:0001819	synonymous_variant	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7179870C>T	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.858C>T	2.37:g.7179870C>T							p.D286D	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	9	1300	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	286					D6W4Y6|Q585H5	Silent	SNP	ENST00000320892.6	37	c.858C>T	CCDS1657.1																																																																																				0.582	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		6	53	0	0	0	1	0	6	53				
C11orf73	51501	broad.mit.edu	37	11	86055702	86055702	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:86055702C>T	ENST00000278483.3	+	4	704	c.478C>T	c.(478-480)Cag>Tag	p.Q160*	C11orf73_ENST00000530208.1_3'UTR|C11orf73_ENST00000533986.1_Nonsense_Mutation_p.Q160*	NM_016401.3	NP_057485.2	Q53FT3	HIKES_HUMAN	chromosome 11 open reading frame 73	160					cellular response to heat (GO:0034605)|Golgi organization (GO:0007030)|lung development (GO:0030324)|protein import into nucleus (GO:0006606)|protein transport (GO:0015031)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	Hsp70 protein binding (GO:0030544)|protein transporter activity (GO:0008565)			kidney(1)|large_intestine(1)|urinary_tract(1)	3		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)				TGCTGTCTCTCAGGCCCAGAT	0.358																																						ENST00000533986.1																			0				kidney(1)|large_intestine(1)|urinary_tract(1)	3						c.(478-480)Cag>Tag		chromosome 11 open reading frame 73							82.0	78.0	79.0					11																	86055702		2202	4299	6501	SO:0001587	stop_gained	51501					cytoplasm		g.chr11:86055702C>T	BC015991	CCDS8275.1	11q14.2	2013-03-12			ENSG00000149196	ENSG00000149196			26938	protein-coding gene	gene with protein product		614908				11042152, 22541429	Standard	NM_016401		Approved	HSPC138, HSPC179, Hikeshi, OPI10	uc001pbu.3	Q53FT3	OTTHUMG00000167212	ENST00000278483.3:c.478C>T	11.37:g.86055702C>T	ENSP00000278483:p.Gln160*					C11orf73_ENST00000530208.1_3'UTR|C11orf73_ENST00000278483.3_Nonsense_Mutation_p.Q160*	p.Q160*			Q53FT3	CK073_HUMAN			4	716	+		Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556)	160					Q8WVE8|Q9NVQ2|Q9NZZ1|Q9P022|Q9P0N1	Nonsense_Mutation	SNP	ENST00000278483.3	37	c.478C>T	CCDS8275.1	.	.	.	.	.	.	.	.	.	.	C	37	6.474987	0.97598	.	.	ENSG00000149196	ENST00000533986;ENST00000278483	.	.	.	5.95	5.95	0.96441	.	0.051612	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.8925	20.0128	0.97467	0.0:1.0:0.0:0.0	.	.	.	.	X	160	.	.	Q	+	1	0	C11orf73	85733350	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.174000	0.77620	2.827000	0.97445	0.650000	0.86243	CAG		0.358	C11orf73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393747.1	NM_016401		5	70	0	0	0	1	0	5	70				
LTBP2	4053	broad.mit.edu	37	14	75022226	75022226	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr14:75022226T>C	ENST00000261978.4	-	4	1387	c.1001A>G	c.(1000-1002)gAg>gGg	p.E334G	CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000556690.1_Missense_Mutation_p.E334G|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	334					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGAGGGGTGCTCCAGAGGTAC	0.632																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1000-1002)gAg>gGg		latent transforming growth factor beta binding protein 2							95.0	87.0	90.0					14																	75022226		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75022226T>C		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.1001A>G	14.37:g.75022226T>C	ENSP00000261978:p.Glu334Gly					CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.E334G	p.E334G	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	4	1387	-			334					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.1001A>G	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	t	3.197	-0.164535	0.06502	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.79141	-1.23;-1.24	4.7	0.873	0.19118	.	0.925490	0.08846	N	0.885149	T	0.59238	0.2179	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.38779	-0.9645	10	0.11485	T	0.65	.	7.5637	0.27866	0.0:0.2796:0.0:0.7204	.	334	Q14767	LTBP2_HUMAN	G	334	ENSP00000261978:E334G;ENSP00000451477:E334G	ENSP00000261978:E334G	E	-	2	0	LTBP2	74091979	0.866000	0.29940	0.220000	0.23810	0.096000	0.18686	0.359000	0.20233	0.305000	0.22832	0.454000	0.30748	GAG		0.632	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		10	62	0	0	0	1	0	10	62				
SLC22A15	55356	broad.mit.edu	37	1	116569559	116569559	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:116569559C>T	ENST00000369503.4	+	5	774	c.644C>T	c.(643-645)gCc>gTc	p.A215V	SLC22A15_ENST00000369502.1_Missense_Mutation_p.A215V	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	215					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GCCCAATATGCCCTGTTAGGA	0.478																																						ENST00000369503.4																			0				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17						c.(643-645)gCc>gTc		solute carrier family 22, member 15							204.0	187.0	192.0					1																	116569559		1908	4109	6017	SO:0001583	missense	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116569559C>T	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.644C>T	1.37:g.116569559C>T	ENSP00000358515:p.Ala215Val					SLC22A15_ENST00000369502.1_Missense_Mutation_p.A215V	p.A215V	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	5	774	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	215					A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	c.644C>T	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792053	0.90453	.	.	ENSG00000163393	ENST00000369503;ENST00000369502	T;T	0.76316	-1.01;0.32	4.92	4.92	0.64577	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.82797	0.5115	L	0.58428	1.81	0.80722	D	1	P;D	0.53151	0.872;0.958	P;P	0.61397	0.888;0.85	D	0.83770	0.0219	10	0.66056	D	0.02	.	18.6782	0.91537	0.0:1.0:0.0:0.0	.	215;215	Q8IZD6;Q8IZD6-2	S22AF_HUMAN;.	V	215	ENSP00000358515:A215V;ENSP00000358514:A215V	ENSP00000358514:A215V	A	+	2	0	SLC22A15	116371082	1.000000	0.71417	0.998000	0.56505	0.533000	0.34776	4.306000	0.59117	2.710000	0.92621	0.563000	0.77884	GCC		0.478	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		4	134	0	0	0	1	0	4	134				
TGM6	343641	broad.mit.edu	37	20	2384362	2384362	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr20:2384362G>A	ENST00000202625.2	+	9	1290	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q	TGM6_ENST00000381423.1_Missense_Mutation_p.R410Q	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	410					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GATGAGAGCCGGGAGCGTGTA	0.577																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(1228-1230)cGg>cAg		transglutaminase 6	L-Glutamine(DB00130)						118.0	103.0	108.0					20																	2384362		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2384362G>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1229G>A	20.37:g.2384362G>A	ENSP00000202625:p.Arg410Gln					TGM6_ENST00000381423.1_Missense_Mutation_p.R410Q	p.R410Q	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			9	1290	+			410					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.1229G>A	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	0.120	-1.126269	0.01770	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.72942	-0.7;-0.7	4.84	2.64	0.31445	.	0.503753	0.20705	N	0.087198	T	0.46112	0.1376	N	0.17312	0.475	0.21105	N	0.99979	B;B	0.22414	0.069;0.022	B;B	0.15052	0.012;0.005	T	0.22836	-1.0205	10	0.08837	T	0.75	-13.0667	7.0257	0.24938	0.3067:0.0:0.6933:0.0	.	410;410	O95932-2;O95932	.;TGM3L_HUMAN	Q	410	ENSP00000202625:R410Q;ENSP00000370831:R410Q	ENSP00000202625:R410Q	R	+	2	0	TGM6	2332362	0.007000	0.16637	0.973000	0.42090	0.271000	0.26615	0.477000	0.22196	0.632000	0.30432	0.549000	0.68633	CGG		0.577	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		4	64	0	0	0	1	0	4	64				
ZRANB1	54764	broad.mit.edu	37	10	126672053	126672053	+	Silent	SNP	A	A	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr10:126672053A>G	ENST00000359653.4	+	8	2075	c.1704A>G	c.(1702-1704)gaA>gaG	p.E568E	ZRANB1_ENST00000471421.1_3'UTR	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	568	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TGTTGTGGGAACAGAGTTTTT	0.483																																						ENST00000359653.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1702-1704)gaA>gaG		zinc finger, RAN-binding domain containing 1							204.0	186.0	192.0					10																	126672053		2203	4300	6503	SO:0001819	synonymous_variant	54764				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr10:126672053A>G	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1704A>G	10.37:g.126672053A>G						ZRANB1_ENST00000471421.1_3'UTR	p.E568E	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	8	2075	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	568			OTU.|TRAF-binding.		B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Silent	SNP	ENST00000359653.4	37	c.1704A>G	CCDS7642.1																																																																																				0.483	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		17	86	0	0	0	1	0	17	86				
TBC1D2	55357	broad.mit.edu	37	9	100962536	100962536	+	Splice_Site	SNP	G	G	A	rs201387462	byFrequency	TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr9:100962536G>A	ENST00000375064.1	-	12	2616	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C	TBC1D2_ENST00000375063.1_Splice_Site_p.R400W|TBC1D2_ENST00000375066.5_Splice_Site_p.R849W|TBC1D2_ENST00000342112.5_Splice_Site_p.R642W	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	860					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTTCCTCACCGGCTGTTGGAG	0.537													G|||	7	0.00139776	0.0	0.0	5008	,	,		12791	0.0		0.0	False		,,,				2504	0.0072					ENST00000375066.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.e12+1		TBC1 domain family, member 2							66.0	58.0	61.0					9																	100962536		2203	4300	6503	SO:0001630	splice_region_variant	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:100962536G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.2579+1C>T	9.37:g.100962536G>A						TBC1D2_ENST00000375064.1_Splice_Site_p.R860_splice|TBC1D2_ENST00000375063.1_Splice_Site_p.R400_splice|TBC1D2_ENST00000342112.5_Splice_Site_p.R642_splice	p.R849_splice	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	12	2636	-		Myeloproliferative disorder(762;0.0255)	860					B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Splice_Site	SNP	ENST00000375064.1	37	c.2546_splice		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.25|18.25	3.583516|3.583516	0.65992|0.65992	.|.	.|.	ENSG00000095383|ENSG00000095383	ENST00000375064|ENST00000375066;ENST00000342112;ENST00000375063	T|T;T;T	0.20881|0.23147	2.04|1.92;1.92;1.92	4.53|4.53	1.35|1.35	0.21983|0.21983	.|Rab-GAP/TBC domain (1);	0.133866|0.133866	0.48286|0.48286	D|N	0.000191|0.000191	T|T	0.38983|0.38983	0.1061|0.1061	M|M	0.64997|0.64997	1.995|1.995	0.47065|0.47065	D|D	0.999307|0.999307	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.72625	.|0.952;0.978	T|T	0.19063|0.19063	-1.0317|-1.0317	8|10	0.87932|0.87932	D|D	0|0	.|.	3.9478|3.9478	0.09355|0.09355	0.0887:0.1346:0.535:0.2417|0.0887:0.1346:0.535:0.2417	.|.	.|860;849	.|Q9BYX2;Q9BYX2-2	.|TBD2A_HUMAN;.	C|W	860|849;642;400	ENSP00000364205:R860C|ENSP00000364207:R849W;ENSP00000341567:R642W;ENSP00000364203:R400W	ENSP00000364205:R860C|ENSP00000341567:R642W	R|R	-|-	1|1	0|2	TBC1D2|TBC1D2	100002357|100002357	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.940000|0.940000	0.58332|0.58332	2.983000|2.983000	0.49345|0.49345	0.441000|0.441000	0.26529|0.26529	0.511000|0.511000	0.50034|0.50034	CGC|CGG		0.537	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421	Missense_Mutation	8	18	0	0	0	1	0	8	18				
CHL1	10752	broad.mit.edu	37	3	436435	436435	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr3:436435C>A	ENST00000256509.2	+	24	3616	c.2974C>A	c.(2974-2976)Ccc>Acc	p.P992T	CHL1_ENST00000397491.2_Missense_Mutation_p.P976T	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCCATCAAAGCCCAGCTGGCA	0.393																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(2974-2976)Ccc>Acc		cell adhesion molecule L1-like							83.0	80.0	81.0					3																	436435		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:436435C>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2974C>A	3.37:g.436435C>A	ENSP00000256509:p.Pro992Thr					CHL1_ENST00000397491.2_Missense_Mutation_p.P976T	p.P992T	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	24	3616	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	976			Fibronectin type-III 4.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.2974C>A	CCDS2556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.005|0.005	-2.214557|-2.214557	0.00289|0.00289	.|.	.|.	ENSG00000134121|ENSG00000134121	ENST00000256509;ENST00000397491|ENST00000445697	T;T|.	0.47177|.	0.85;0.85|.	5.58|5.58	3.03|3.03	0.35002|0.35002	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.268769|.	0.38492|.	N|.	0.001673|.	T|T	0.04363|0.04363	0.0120|0.0120	N|N	0.00085|0.00085	-2.2|-2.2	0.19575|0.19575	N|N	0.999963|0.999963	B;B;B|.	0.11235|.	0.004;0.004;0.001|.	B;B;B|.	0.12156|.	0.002;0.0;0.007|.	T|T	0.37663|0.37663	-0.9696|-0.9696	10|5	0.02654|.	T|.	1|.	.|.	5.7293|5.7293	0.18030|0.18030	0.0:0.5248:0.2714:0.2038|0.0:0.5248:0.2714:0.2038	.|.	976;976;992|.	B3KX75;O00533;O00533-2|.	.;CHL1_HUMAN;.|.	T|R	992;976|178	ENSP00000256509:P992T;ENSP00000380628:P976T|.	ENSP00000256509:P992T|.	P|S	+|+	1|3	0|2	CHL1|CHL1	411435|411435	0.319000|0.319000	0.24607|0.24607	0.192000|0.192000	0.23308|0.23308	0.167000|0.167000	0.22549|0.22549	1.060000|1.060000	0.30530|0.30530	0.343000|0.343000	0.23821|0.23821	0.591000|0.591000	0.81541|0.81541	CCC|AGC		0.393	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		12	48	1	0	2.61681e-11	1	2.72896e-11	12	48				
FOXA1	3169	broad.mit.edu	37	14	38061231	38061231	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr14:38061231A>T	ENST00000250448.2	-	2	819	c.758T>A	c.(757-759)aTg>aAg	p.M253K	FOXA1_ENST00000540786.1_Missense_Mutation_p.M220K|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	253					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.M253R(2)|p.M253K(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTTCTCGAACATGTTGCCGGA	0.687																																						ENST00000250448.2																			4	Substitution - Missense(4)	p.M253R(2)|p.M253K(2)	prostate(4)	breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(757-759)aTg>aAg		forkhead box A1							26.0	26.0	26.0					14																	38061231		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding	g.chr14:38061231A>T	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.758T>A	14.37:g.38061231A>T	ENSP00000250448:p.Met253Lys					FOXA1_ENST00000540786.1_Missense_Mutation_p.M220K|FOXA1_ENST00000545425.2_5'UTR	p.M253K	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	819	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		253					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.758T>A	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.472339	0.84533	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95103	-3.61;-3.61	3.92	3.92	0.45320	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.96651	0.8907	M	0.77486	2.375	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.96875	0.9642	10	0.87932	D	0	.	11.8486	0.52399	1.0:0.0:0.0:0.0	.	253	P55317	FOXA1_HUMAN	K	253;220	ENSP00000250448:M253K;ENSP00000440178:M220K	ENSP00000250448:M253K	M	-	2	0	FOXA1	37130982	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.933000	0.92911	1.648000	0.50643	0.329000	0.21502	ATG		0.687	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			4	34	0	0	0	1	0	4	34				
KCNK17	89822	broad.mit.edu	37	6	39272357	39272357	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr6:39272357G>A	ENST00000373231.4	-	3	659	c.427C>T	c.(427-429)Ctc>Ttc	p.L143F	KCNK17_ENST00000453413.2_Missense_Mutation_p.L143F	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	143					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						ACGAGGTTGAGTGGGATCCCC	0.637																																						ENST00000453413.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						c.(427-429)Ctc>Ttc		potassium channel, subfamily K, member 17							144.0	144.0	144.0					6																	39272357		2203	4300	6503	SO:0001583	missense	89822					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39272357G>A	AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.427C>T	6.37:g.39272357G>A	ENSP00000362328:p.Leu143Phe					KCNK17_ENST00000373231.4_Missense_Mutation_p.L143F	p.L143F	NM_001135111.1	NP_001128583.1	Q96T54	KCNKH_HUMAN			3	567	-			143					E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	c.427C>T	CCDS4842.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173077	0.57584	.	.	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.36340	1.26;1.26	4.79	3.91	0.45181	Ion transport 2 (1);	0.000000	0.40469	N	0.001094	T	0.38480	0.1042	L	0.49699	1.58	0.36795	D	0.885057	D;D	0.89917	0.999;1.0	D;D	0.97110	0.978;1.0	T	0.32241	-0.9914	10	0.49607	T	0.09	.	10.3851	0.44134	0.1785:0.0:0.8215:0.0	.	143;143	E9PB46;Q96T54	.;KCNKH_HUMAN	F	143	ENSP00000362328:L143F;ENSP00000401271:L143F	ENSP00000362328:L143F	L	-	1	0	KCNK17	39380335	1.000000	0.71417	0.987000	0.45799	0.721000	0.41392	3.923000	0.56469	0.444000	0.26612	-1.134000	0.01955	CTC		0.637	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460		15	102	0	0	0	1	0	15	102				
KMT2D	8085	broad.mit.edu	37	12	49420696	49420696	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr12:49420696G>A	ENST00000301067.7	-	48	15052	c.15053C>T	c.(15052-15054)aCa>aTa	p.T5018I		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5018					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCGCAAGGCTGTGCCAAGCTG	0.627																																						ENST00000301067.7																			0											c.(15052-15054)aCa>aTa		lysine (K)-specific methyltransferase 2D							57.0	61.0	60.0					12																	49420696		2160	4266	6426	SO:0001583	missense	8085							g.chr12:49420696G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15053C>T	12.37:g.49420696G>A	ENSP00000301067:p.Thr5018Ile						p.T5018I	NM_003482.3	NP_003473.3					48	15052	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.15053C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.534882	0.27475	.	.	ENSG00000167548	ENST00000301067	T	0.78003	-1.14	4.34	4.34	0.51931	.	0.000000	0.37530	N	0.002042	T	0.63558	0.2521	N	0.11698	0.16	0.40019	D	0.975388	B	0.25521	0.128	B	0.22386	0.039	T	0.66913	-0.5803	10	0.87932	D	0	.	16.1502	0.81611	0.0:0.0:1.0:0.0	.	5018	O14686	MLL2_HUMAN	I	5018	ENSP00000301067:T5018I	ENSP00000301067:T5018I	T	-	2	0	MLL2	47706963	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.140000	0.64807	2.425000	0.82216	0.655000	0.94253	ACA		0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			6	54	0	0	0	1	0	6	54				
DPY19L2P2	349152	broad.mit.edu	37	7	102825947	102825947	+	RNA	SNP	A	A	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr7:102825947A>G	ENST00000312132.4	-	0	3750							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ACAGCTTGACACTTGCCATTG	0.373																																						ENST00000312132.4																			0																																																			0							g.chr7:102825947A>G	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102825947A>G														0	3750	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.373	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		4	68	0	0	0	1	0	4	68				
ASB15	142685	broad.mit.edu	37	7	123269122	123269122	+	Silent	SNP	T	T	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr7:123269122T>C	ENST00000451558.1	+	12	1595	c.1074T>C	c.(1072-1074)gtT>gtC	p.V358V	ASB15_ENST00000451215.1_Silent_p.V358V|ASB15_ENST00000275699.3_Silent_p.V358V|ASB15_ENST00000540573.1_Silent_p.V358V|ASB15_ENST00000434204.1_Silent_p.V358V			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	358					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						ATTTTGGCGTTTCTAATAATG	0.453																																						ENST00000451558.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						c.(1072-1074)gtT>gtC		ankyrin repeat and SOCS box containing 15							151.0	137.0	142.0					7																	123269122		2203	4300	6503	SO:0001819	synonymous_variant	142685				intracellular signal transduction			g.chr7:123269122T>C	AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1074T>C	7.37:g.123269122T>C						ASB15_ENST00000275699.3_Silent_p.V358V|ASB15_ENST00000540573.1_Silent_p.V358V|ASB15_ENST00000451215.1_Silent_p.V358V|ASB15_ENST00000434204.1_Silent_p.V358V	p.V358V			Q8WXK1	ASB15_HUMAN			12	1595	+			358					Q3ZCP3|Q3ZCP5|Q68D37	Silent	SNP	ENST00000451558.1	37	c.1074T>C	CCDS34742.1																																																																																				0.453	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			46	73	0	0	0	1	0	46	73				
ZNF521	25925	broad.mit.edu	37	18	22805204	22805204	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr18:22805204G>A	ENST00000361524.3	-	4	2826	c.2678C>T	c.(2677-2679)gCa>gTa	p.A893V	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.A673V|ZNF521_ENST00000538137.2_Missense_Mutation_p.A893V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	893					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGTGTAGGCTGCCCCACAAAT	0.512			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(2677-2679)gCa>gTa		zinc finger protein 521							118.0	111.0	113.0					18																	22805204		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805204G>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2678C>T	18.37:g.22805204G>A	ENSP00000354794:p.Ala893Val					ZNF521_ENST00000538137.2_Missense_Mutation_p.A893V|ZNF521_ENST00000584787.1_Missense_Mutation_p.A673V	p.A893V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	2826	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		893					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.2678C>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510642	0.44660	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.27890	1.64;1.64	5.83	5.83	0.93111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.60547	0.2277	M	0.79123	2.44	0.54753	D	0.999982	D	0.89917	1.0	D	0.87578	0.998	T	0.61530	-0.7044	10	0.66056	D	0.02	-20.8964	20.1184	0.97949	0.0:0.0:1.0:0.0	.	893	Q96K83	ZN521_HUMAN	V	893;927;893	ENSP00000354794:A893V;ENSP00000382352:A893V	ENSP00000354794:A893V	A	-	2	0	ZNF521	21059202	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	9.476000	0.97823	2.769000	0.95229	0.655000	0.94253	GCA		0.512	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		4	51	0	0	0	1	0	4	51				
TENM4	26011	broad.mit.edu	37	11	78380595	78380595	+	Silent	SNP	G	G	C	rs577179110	byFrequency	TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:78380595G>C	ENST00000278550.7	-	32	7257	c.6795C>G	c.(6793-6795)ggC>ggG	p.G2265G		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2265					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										AGATATCACCGCCCCGCTGCC	0.602																																						ENST00000278550.7																			0											c.(6793-6795)ggC>ggG		teneurin transmembrane protein 4							139.0	146.0	144.0					11																	78380595		2166	4261	6427	SO:0001819	synonymous_variant	26011							g.chr11:78380595G>C	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.6795C>G	11.37:g.78380595G>C							p.G2265G	NM_001098816.2	NP_001092286.2					32	7257	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.6795C>G	CCDS44688.1																																																																																				0.602	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			5	141	0	0	0	1	0	5	141				
KIAA2022	340533	broad.mit.edu	37	X	73963818	73963818	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chrX:73963818T>A	ENST00000055682.6	-	3	1185	c.574A>T	c.(574-576)Aat>Tat	p.N192Y		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	192					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TATTTCATATTTTCTCCAGCA	0.458																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(574-576)Aat>Tat		KIAA2022							63.0	54.0	57.0					X																	73963818		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73963818T>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.574A>T	X.37:g.73963818T>A	ENSP00000055682:p.Asn192Tyr					KIAA2022_ENST00000055682.5_Missense_Mutation_p.N192Y	p.N192Y			Q5QGS0	K2022_HUMAN			3	1225	-			192					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.574A>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	T	14.34	2.505390	0.44558	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32988	1.43;1.43	6.08	4.93	0.64822	.	1.064610	0.07219	N	0.860460	T	0.33673	0.0871	L	0.36672	1.1	0.28078	N	0.932308	P	0.40875	0.731	B	0.44224	0.444	T	0.25572	-1.0128	10	0.72032	D	0.01	-10.4157	10.6878	0.45854	0.0:0.0745:0.0:0.9255	.	192	Q5QGS0	K2022_HUMAN	Y	192	ENSP00000362567:N192Y;ENSP00000055682:N192Y	ENSP00000055682:N192Y	N	-	1	0	KIAA2022	73880543	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.919000	0.40015	2.044000	0.60594	0.486000	0.48141	AAT		0.458	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		5	36	0	0	0	1	0	5	36				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662																																						ENST00000391413.2																			4	Substitution - Missense(4)	p.M93V(4)	endometrium(3)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(277-279)Atg>Gtg		keratin associated protein 4-11							6.0	10.0	8.0					17																	39274291		651	1556	2207	SO:0001583	missense	653240					keratin filament		g.chr17:39274291T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.277A>G	17.37:g.39274291T>C	ENSP00000375232:p.Met93Val						p.M93V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	315	-		Breast(137;0.000496)	93			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.277A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.199029	0.01581	.	.	ENSG00000212721	ENST00000391413	T	0.00580	6.43	4.25	-4.9	0.03094	.	.	.	.	.	T	0.00109	0.0003	N	0.00040	-2.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	9	0.02654	T	1	.	0.4739	0.00536	0.3479:0.2455:0.1203:0.2863	.	93	Q9BYQ6	KR411_HUMAN	V	93	ENSP00000375232:M93V	ENSP00000375232:M93V	M	-	1	0	KRTAP4-11	36527817	.	.	0.012000	0.15200	0.010000	0.07245	.	.	-1.319000	0.02286	-1.132000	0.01976	ATG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	46	0	0	0	1	0	4	46				
ANPEP	290	broad.mit.edu	37	15	90348339	90348339	+	Silent	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr15:90348339G>A	ENST00000300060.6	-	4	1180	c.867C>T	c.(865-867)taC>taT	p.Y289Y	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	289	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GCTTCTCCACGTAGTCGAACT	0.567																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(865-867)taC>taT		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						260.0	216.0	231.0					15																	90348339		2200	4299	6499	SO:0001819	synonymous_variant	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90348339G>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.867C>T	15.37:g.90348339G>A							p.Y289Y	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		4	1180	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		289			Interaction with HCoV-229E.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	c.867C>T	CCDS10356.1																																																																																				0.567	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			16	79	0	0	0	1	0	16	79				
TM7SF3	51768	broad.mit.edu	37	12	27152541	27152541	+	Silent	SNP	C	C	T	rs201828931		TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr12:27152541C>T	ENST00000343028.4	-	3	540	c.315G>A	c.(313-315)caG>caA	p.Q105Q	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	105						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TGCATGTACTCTGCTCTGGTC	0.473																																						ENST00000343028.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(313-315)caG>caA		transmembrane 7 superfamily member 3							157.0	138.0	145.0					12																	27152541		2203	4300	6503	SO:0001819	synonymous_variant	51768					integral to membrane|plasma membrane		g.chr12:27152541C>T	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.315G>A	12.37:g.27152541C>T						TM7SF3_ENST00000542667.1_5'UTR	p.Q105Q	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN			3	540	-	Colorectal(261;0.0847)		105					B3KMZ3|Q9NUS4	Silent	SNP	ENST00000343028.4	37	c.315G>A	CCDS8710.1																																																																																				0.473	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		12	30	0	0	0	1	0	12	30				
PCDHGA9	56107	broad.mit.edu	37	5	140783254	140783254	+	Silent	SNP	G	G	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr5:140783254G>T	ENST00000573521.1	+	1	735	c.735G>T	c.(733-735)cgG>cgT	p.R245R	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	245	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCTCAACGGATTTACCGAG	0.557																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(733-735)cgG>cgT									45.0	50.0	49.0					5																	140783254		1994	4168	6162	SO:0001819	synonymous_variant	0							g.chr5:140783254G>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.735G>T	5.37:g.140783254G>T						PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron	p.R245R	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	735	+								A2RU65|Q9Y5C9	Silent	SNP	ENST00000573521.1	37	c.735G>T	CCDS58981.1																																																																																				0.557	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		12	72	1	0	9.31168e-06	1	9.57398e-06	12	72				
TTL	150465	broad.mit.edu	37	2	113260632	113260632	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr2:113260632C>A	ENST00000233336.6	+	5	940	c.749C>A	c.(748-750)tCa>tAa	p.S250*		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	250	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)|microtubule cytoskeleton organization (GO:0000226)|regulation of axon extension (GO:0030516)		ATP binding (GO:0005524)|tubulin-tyrosine ligase activity (GO:0004835)			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		AAAGAGTATTCAAAGAACTAC	0.383			T	ETV6	ALL																																	ENST00000233336.5				Dom	yes		2	2q13	150465	T	tubulin tyrosine ligase			L	ETV6		ALL		0				breast(1)|large_intestine(2)|ovary(1)	4						c.(748-750)tCa>tAa		tubulin tyrosine ligase							112.0	113.0	113.0					2																	113260632		2203	4300	6503	SO:0001587	stop_gained	150465				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr2:113260632C>A		CCDS2096.1	2q13	2010-04-21			ENSG00000114999	ENSG00000114999	6.3.2.25		21586	protein-coding gene	gene with protein product		608291				11431336	Standard	NM_153712		Approved	MGC46235	uc002thu.3	Q8NG68	OTTHUMG00000131316	ENST00000233336.6:c.749C>A	2.37:g.113260632C>A	ENSP00000233336:p.Ser250*						p.S250*	NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)	5	940	+		Ovarian(717;0.024)	250			TTL.		Q585T3|Q7Z302|Q8N426	Nonsense_Mutation	SNP	ENST00000233336.6	37	c.749C>A	CCDS2096.1	.	.	.	.	.	.	.	.	.	.	C	39	7.637401	0.98403	.	.	ENSG00000114999	ENST00000233336	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3835	0.90459	0.0:1.0:0.0:0.0	.	.	.	.	X	250	.	ENSP00000233336:S250X	S	+	2	0	TTL	112977103	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	7.368000	0.79567	2.628000	0.89032	0.655000	0.94253	TCA		0.383	TTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254085.2	NM_153712		6	90	1	0	0.00116845	1	0.00116845	6	90				
STARD13	90627	broad.mit.edu	37	13	33703513	33703513	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr13:33703513C>T	ENST00000336934.5	-	5	1417	c.1301G>A	c.(1300-1302)gGc>gAc	p.G434D	STARD13_ENST00000399365.3_Missense_Mutation_p.G316D|STARD13_ENST00000255486.4_Missense_Mutation_p.G426D	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	434					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTGCTCTCTGCCCAGGGAGAT	0.567																																						ENST00000336934.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(1300-1302)gGc>gAc		StAR-related lipid transfer (START) domain containing 13							43.0	45.0	44.0					13																	33703513		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33703513C>T	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1301G>A	13.37:g.33703513C>T	ENSP00000338785:p.Gly434Asp					STARD13_ENST00000255486.4_Missense_Mutation_p.G426D|STARD13_ENST00000399365.3_Missense_Mutation_p.G316D	p.G434D	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	1417	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	434					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.1301G>A	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.623726	0.00820	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.06933	3.24;3.25;3.25	5.73	4.89	0.63831	.	0.141820	0.64402	D	0.000004	T	0.11750	0.0286	M	0.71581	2.175	0.80722	D	1	B;B;B;B	0.21520	0.057;0.007;0.009;0.007	B;B;B;B	0.27608	0.081;0.029;0.013;0.019	T	0.05954	-1.0854	10	0.13853	T	0.58	.	11.7598	0.51896	0.0:0.8585:0.0:0.1415	.	426;399;434;426	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	D	316;426;434;426	ENSP00000382300:G316D;ENSP00000255486:G426D;ENSP00000338785:G434D	ENSP00000255486:G426D	G	-	2	0	STARD13	32601513	1.000000	0.71417	0.986000	0.45419	0.037000	0.13140	3.382000	0.52463	1.425000	0.47237	0.655000	0.94253	GGC		0.567	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		3	31	0	0	0	1	0	3	31				
BDKRB1	623	broad.mit.edu	37	14	96730362	96730362	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr14:96730362G>C	ENST00000216629.6	+	3	949	c.343G>C	c.(343-345)Ggg>Cgg	p.G115R	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Missense_Mutation_p.G115R	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	115					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TGTCATCAACGGGGTCATCAA	0.572																																						ENST00000216629.6																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16						c.(343-345)Ggg>Cgg		bradykinin receptor B1							81.0	79.0	79.0					14																	96730362		2203	4300	6503	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730362G>C	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.343G>C	14.37:g.96730362G>C	ENSP00000216629:p.Gly115Arg					RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Missense_Mutation_p.G115R	p.G115R	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	949	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	115					A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	c.343G>C	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052484	0.36181	.	.	ENSG00000100739	ENST00000216629;ENST00000553356	T;T	0.37752	1.18;1.18	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.397501	0.24808	N	0.035425	T	0.64713	0.2623	M	0.88512	2.96	0.23889	N	0.996558	D;D	0.76494	0.999;0.999	D;D	0.71656	0.956;0.974	T	0.62905	-0.6755	10	0.72032	D	0.01	-22.8159	13.6725	0.62434	0.0765:0.0:0.9235:0.0	.	115;115	G3V4Y2;P46663	.;BKRB1_HUMAN	R	115	ENSP00000216629:G115R;ENSP00000452064:G115R	ENSP00000216629:G115R	G	+	1	0	BDKRB1	95800115	0.000000	0.05858	0.188000	0.23233	0.300000	0.27592	0.338000	0.19858	2.589000	0.87451	0.555000	0.69702	GGG		0.572	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1			18	80	0	0	0	1	0	18	80				
FAM133A	286499	broad.mit.edu	37	X	92964856	92964856	+	Silent	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chrX:92964856G>A	ENST00000355813.5	+	4	964	c.438G>A	c.(436-438)acG>acA	p.T146T	FAM133A_ENST00000322139.4_Silent_p.T146T|FAM133A_ENST00000538690.1_Silent_p.T146T|FAM133A_ENST00000332647.4_Silent_p.T146T	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	146	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAAGCTCTACGCATGAATCAG	0.368																																						ENST00000538690.1																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						c.(436-438)acG>acA		family with sequence similarity 133, member A							30.0	26.0	27.0					X																	92964856		2200	4296	6496	SO:0001819	synonymous_variant	286499							g.chrX:92964856G>A	AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"""cancer/testis antigen 115"""						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.438G>A	X.37:g.92964856G>A						FAM133A_ENST00000332647.4_Silent_p.T146T|FAM133A_ENST00000355813.5_Silent_p.T146T|FAM133A_ENST00000322139.4_Silent_p.T146T	p.T146T	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN			5	999	+			146			Lys-rich.|Ser-rich.			Silent	SNP	ENST00000355813.5	37	c.438G>A	CCDS14466.1																																																																																				0.368	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057452.1	NM_173698		5	8	0	0	0	1	0	5	8				
KIRREL3	84623	broad.mit.edu	37	11	126432745	126432745	+	Missense_Mutation	SNP	G	G	A	rs119462978		TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:126432745G>A	ENST00000525144.2	-	2	367	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	KIRREL3_ENST00000533026.2_5'UTR|KIRREL3_ENST00000525704.2_Missense_Mutation_p.R40W|KIRREL3-AS1_ENST00000548204.1_RNA|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R40W	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	40			R -> W (in MRD4). {ECO:0000269|PubMed:19012874}.		hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTCATTCTCCGAAACTTGTCC	0.547																																						ENST00000525144.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	GRCh37	CM086843	KIRREL3	M	rs119462978	c.(118-120)Cgg>Tgg		kin of IRRE like 3 (Drosophila)		G	TRP/ARG,TRP/ARG	0,3888		0,0,1944	120.0	114.0	116.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	118,118	5.5	1.0	11	dbSNP_132	116	2,8286		0,2,4142	no	missense,missense	KIRREL3	NM_001161707.1,NM_032531.3	101,101	0,2,6086	AA,AG,GG		0.0241,0.0,0.0164	probably-damaging,probably-damaging	40/601,40/779	126432745	2,12174	1944	4144	6088	SO:0001583	missense	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126432745G>A	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.118C>T	11.37:g.126432745G>A	ENSP00000435466:p.Arg40Trp					KIRREL3_ENST00000525704.2_Missense_Mutation_p.R40W|KIRREL3_ENST00000533026.2_5'UTR|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R40W|KIRREL3-AS1_ENST00000548204.1_RNA	p.R40W	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	2	367	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	40		R -> W (in MRD4).			Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	ENST00000525144.2	37	c.118C>T	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.349507	0.82132	0.0	2.41E-4	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.72167	-0.63;-0.4;-0.5	5.47	5.47	0.80525	.	0.000000	0.52532	D	0.000071	T	0.70605	0.3243	N	0.08118	0	0.80722	A	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.992;0.993;0.973	T	0.74722	-0.3569	9	0.37606	T	0.19	.	17.5197	0.87783	0.0:0.0:1.0:0.0	.	40;40;40	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	W	40	ENSP00000435466:R40W;ENSP00000434081:R40W;ENSP00000435094:R40W	ENSP00000435466:R40W	R	-	1	2	KIRREL3	125937955	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.408000	0.59761	2.569000	0.86673	0.650000	0.86243	CGG		0.547	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		12	36	0	0	0	1	0	12	36				
UBXN2B	137886	broad.mit.edu	37	8	59343160	59343160	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr8:59343160G>T	ENST00000399598.2	+	3	393	c.271G>T	c.(271-273)Gag>Tag	p.E91*	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	91						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						ACTTTTCAAAGAGGCAAGGGA	0.363																																						ENST00000399598.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(271-273)Gag>Tag		UBX domain protein 2B							66.0	64.0	65.0					8																	59343160		1845	4096	5941	SO:0001587	stop_gained	137886					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus		g.chr8:59343160G>T	AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"""UBX domain containing"""	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.271G>T	8.37:g.59343160G>T	ENSP00000382507:p.Glu91*					UBXN2B_ENST00000522978.1_3'UTR	p.E91*	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN			3	393	+			91					B3KWZ3	Nonsense_Mutation	SNP	ENST00000399598.2	37	c.271G>T	CCDS43741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.408354|6.408354	0.97542|0.97542	.|.	.|.	ENSG00000215114|ENSG00000215114	ENST00000399598|ENST00000521796	.|.	.|.	.|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.000000|.	0.45126|.	U|.	0.000395|.	.|T	.|0.76248	.|0.3961	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73418	.|-0.3989	.|3	0.02654|.	T|.	1|.	-17.4385|-17.4385	18.7597|18.7597	0.91845|0.91845	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	91|36	.|.	ENSP00000382507:E91X|.	E|R	+|+	1|2	0|0	UBXN2B|UBXN2B	59505714|59505714	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	6.332000|6.332000	0.72934|0.72934	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.363	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619		15	39	1	0	2.31682e-05	1	2.349e-05	15	39				
DYNC1H1	1778	broad.mit.edu	37	14	102482692	102482692	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr14:102482692C>G	ENST00000360184.4	+	37	7644	c.7480C>G	c.(7480-7482)Ctg>Gtg	p.L2494V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2494					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATAGCGATATCTGGTTTATGC	0.408																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(7480-7482)Ctg>Gtg		dynein, cytoplasmic 1, heavy chain 1							49.0	49.0	49.0					14																	102482692		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102482692C>G	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7480C>G	14.37:g.102482692C>G	ENSP00000348965:p.Leu2494Val						p.L2494V	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			37	7644	+			2494					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.7480C>G	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.197669	0.38806	.	.	ENSG00000197102	ENST00000360184	T	0.36520	1.25	5.54	2.7	0.31948	.	0.000000	0.64402	D	0.000001	T	0.38214	0.1032	M	0.76574	2.34	0.58432	D	0.999998	P	0.45011	0.848	B	0.39971	0.315	T	0.44832	-0.9302	10	0.66056	D	0.02	.	11.7584	0.51888	0.0:0.7421:0.0:0.2579	.	2494	Q14204	DYHC1_HUMAN	V	2494	ENSP00000348965:L2494V	ENSP00000348965:L2494V	L	+	1	2	DYNC1H1	101552445	0.708000	0.27876	0.943000	0.38184	0.701000	0.40568	1.080000	0.30779	0.823000	0.34589	0.561000	0.74099	CTG		0.408	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		6	49	0	0	0	1	0	6	49				
DPY19L2P2	349152	broad.mit.edu	37	7	102825946	102825946	+	RNA	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr7:102825946C>T	ENST00000312132.4	-	0	3751							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										GACAGCTTGACACTTGCCATT	0.373																																						ENST00000312132.4																			0																																																			0							g.chr7:102825946C>T	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102825946C>T														0	3751	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.373	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		4	69	0	0	0	1	0	4	69				
OR10T2	128360	broad.mit.edu	37	1	158369196	158369196	+	Silent	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:158369196G>A	ENST00000334438.1	-	1	60	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AGCTCCCCCAGGCTGGAGAAA	0.468																																						ENST00000334438.1																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(61-63)Ctg>Ttg		olfactory receptor, family 10, subfamily T, member 2							33.0	37.0	36.0					1																	158369196		2203	4300	6503	SO:0001819	synonymous_variant	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158369196G>A	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.61C>T	1.37:g.158369196G>A							p.L21L	NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN			1	60	-	all_hematologic(112;0.0378)		21					Q6IF98	Silent	SNP	ENST00000334438.1	37	c.61C>T	CCDS30895.1																																																																																				0.468	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		4	27	0	0	0	1	0	4	27				
HCN1	348980	broad.mit.edu	37	5	45695903	45695903	+	Missense_Mutation	SNP	A	A	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr5:45695903A>C	ENST00000303230.4	-	1	350	c.293T>G	c.(292-294)tTc>tGc	p.F98C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	98	Involved in subunit assembly. {ECO:0000250}.				apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CATGGAGGTGAACTGCCTCTG	0.682																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(292-294)tTc>tGc		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							26.0	29.0	28.0					5																	45695903		2195	4279	6474	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45695903A>C	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.293T>G	5.37:g.45695903A>C	ENSP00000307342:p.Phe98Cys						p.F98C	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			1	350	-			98			Involved in subunit assembly (By similarity).			Missense_Mutation	SNP	ENST00000303230.4	37	c.293T>G	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.274296	0.80580	.	.	ENSG00000164588	ENST00000303230	T	0.80304	-1.36	4.18	4.18	0.49190	Ion transport N-terminal (1);	0.000000	0.48767	D	0.000174	D	0.88562	0.6470	M	0.78637	2.42	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.90033	0.4136	10	0.87932	D	0	.	13.0467	0.58931	1.0:0.0:0.0:0.0	.	98	O60741	HCN1_HUMAN	C	98	ENSP00000307342:F98C	ENSP00000307342:F98C	F	-	2	0	HCN1	45731660	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.500000	0.90498	1.732000	0.51606	0.379000	0.24179	TTC		0.682	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		9	38	0	0	0	1	0	9	38				
PRKAA2	5563	broad.mit.edu	37	1	57161715	57161715	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:57161715A>G	ENST00000371244.4	+	6	737	c.671A>G	c.(670-672)aAg>aGg	p.K224R		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	224	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	ACGTTATTTAAGAAGATCCGA	0.463																																						ENST00000371244.4																			0				breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(670-672)aAg>aGg		protein kinase, AMP-activated, alpha 2 catalytic subunit							302.0	300.0	300.0					1																	57161715		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57161715A>G	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.671A>G	1.37:g.57161715A>G	ENSP00000360290:p.Lys224Arg						p.K224R	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			6	737	+			224			Protein kinase.		Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.671A>G	CCDS605.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.557797	0.45590	.	.	ENSG00000162409	ENST00000371244	T	0.64618	-0.11	5.98	5.98	0.97165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	N	0.11651	0.15	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.37776	-0.9691	10	0.14252	T	0.57	-20.5928	16.4622	0.84064	1.0:0.0:0.0:0.0	.	224	P54646	AAPK2_HUMAN	R	224	ENSP00000360290:K224R	ENSP00000360290:K224R	K	+	2	0	PRKAA2	56934303	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.962000	0.93254	2.289000	0.77006	0.533000	0.62120	AAG		0.463	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		11	275	0	0	0	1	0	11	275				
FLG	2312	broad.mit.edu	37	1	152281367	152281367	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:152281367A>G	ENST00000368799.1	-	3	6030	c.5995T>C	c.(5995-5997)Tca>Cca	p.S1999P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1999	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCACTTGATCTTGCCTGT	0.562									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5995-5997)Tca>Cca		filaggrin							627.0	497.0	541.0					1																	152281367		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281367A>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5995T>C	1.37:g.152281367A>G	ENSP00000357789:p.Ser1999Pro					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S1999P	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6030	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1999			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5995T>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	a	11.12	1.544959	0.27652	.	.	ENSG00000143631	ENST00000368799	T	0.06449	3.3	3.67	-2.93	0.05598	.	.	.	.	.	T	0.02727	0.0082	M	0.66939	2.045	0.09310	N	1	B	0.28713	0.22	B	0.33295	0.161	T	0.36817	-0.9732	9	0.30078	T	0.28	.	9.5222	0.39143	0.3287:0.0:0.6713:0.0	.	1999	P20930	FILA_HUMAN	P	1999	ENSP00000357789:S1999P	ENSP00000357789:S1999P	S	-	1	0	FLG	150547991	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.421000	0.07053	-0.661000	0.05345	0.477000	0.44152	TCA		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		97	519	0	0	0	1	0	97	519				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	40	0	0	0	1	0	4	40				
THEMIS2	9473	broad.mit.edu	37	1	28212408	28212408	+	Missense_Mutation	SNP	T	T	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:28212408T>G	ENST00000373921.3	+	6	1911	c.1907T>G	c.(1906-1908)cTt>cGt	p.L636R	THEMIS2_ENST00000373927.3_3'UTR|THEMIS2_ENST00000492877.1_3'UTR|THEMIS2_ENST00000328928.7_Missense_Mutation_p.L507R|THEMIS2_ENST00000373925.1_3'UTR	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	636	Asp/Glu-rich.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GAAGAAATACTTGAGCAATTT	0.438																																						ENST00000373921.3																			0											c.(1906-1908)cTt>cGt		thymocyte selection associated family member 2							94.0	94.0	94.0					1																	28212408		1921	4131	6052	SO:0001583	missense	9473							g.chr1:28212408T>G	AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1907T>G	1.37:g.28212408T>G	ENSP00000363031:p.Leu636Arg					THEMIS2_ENST00000373925.1_3'UTR|THEMIS2_ENST00000373927.3_3'UTR|THEMIS2_ENST00000328928.7_Missense_Mutation_p.L507R|THEMIS2_ENST00000492877.1_3'UTR	p.L636R	NM_001105556.1	NP_001099026.1					6	1911	+								A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	ENST00000373921.3	37	c.1907T>G	CCDS41290.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.48|13.48	2.249374|2.249374	0.39797|0.39797	.|.	.|.	ENSG00000130775|ENSG00000130775	ENST00000328928;ENST00000373921|ENST00000456990	T;T|T	0.22743|0.22743	1.94;1.95|1.94	3.92|3.92	-5.52|-5.52	0.02560|0.02560	.|.	4.986860|4.986860	0.00628|0.00628	N|N	0.000476|0.000476	T|T	0.13756|0.13756	0.0333|0.0333	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;B;B|.	0.11235|.	0.004;0.0;0.002|.	B;B;B|.	0.08055|.	0.003;0.001;0.002|.	T|T	0.11641|0.11641	-1.0579|-1.0579	10|8	0.49607|0.22706	T|T	0.09|0.39	8.3833|8.3833	1.8448|1.8448	0.03157|0.03157	0.1469:0.3675:0.2363:0.2493|0.1469:0.3675:0.2363:0.2493	.|.	507;440;636|.	Q5TEJ8-5;Q5TEJ8-6;Q5TEJ8|.	.;.;THMS2_HUMAN|.	R|V	507;636|384	ENSP00000329862:L507R;ENSP00000363031:L636R|ENSP00000398049:L384V	ENSP00000329862:L507R|ENSP00000398049:L384V	L|L	+|+	2|1	0|2	C1orf38|C1orf38	28084995|28084995	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.036000|0.036000	0.12997|0.12997	-3.030000|-3.030000	0.00638|0.00638	-1.086000|-1.086000	0.03084|0.03084	0.454000|0.454000	0.30748|0.30748	CTT|TTG		0.438	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011148.1	NM_004848		13	53	0	0	0	1	0	13	53				
MORN3	283385	broad.mit.edu	37	12	122107369	122107369	+	Silent	SNP	T	T	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr12:122107369T>C	ENST00000355329.3	-	1	191	c.21A>G	c.(19-21)ccA>ccG	p.P7P		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	7						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CCGACTTTTTTGGGCACTTAG	0.617																																						ENST00000355329.3																			0				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9						c.(19-21)ccA>ccG		MORN repeat containing 3							120.0	114.0	116.0					12																	122107369		2203	4300	6503	SO:0001819	synonymous_variant	283385							g.chr12:122107369T>C	BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.21A>G	12.37:g.122107369T>C							p.P7P	NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)	1	191	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		7					Q86YQ9	Silent	SNP	ENST00000355329.3	37	c.21A>G	CCDS31917.1																																																																																				0.617	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402154.1	NM_173855		7	89	0	0	0	1	0	7	89				
KLHDC9	126823	broad.mit.edu	37	1	161069373	161069373	+	Intron	SNP	T	T	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr1:161069373T>A	ENST00000368011.4	+	3	829				PFDN2_ENST00000468311.1_5'Flank|KLHDC9_ENST00000490724.2_Intron|KLHDC9_ENST00000392192.2_Missense_Mutation_p.F231Y	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9											lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGACAGTCCTTTCTTTCTCCC	0.507																																						ENST00000392192.2																			0				lung(5)|upper_aerodigestive_tract(1)	6						c.(691-693)tTt>tAt		kelch domain containing 9							243.0	248.0	246.0					1																	161069373		2203	4300	6503	SO:0001627	intron_variant	126823							g.chr1:161069373T>A	BC022077	CCDS30919.1, CCDS41425.1	1q23.3	2008-02-05			ENSG00000162755	ENSG00000162755			28489	protein-coding gene	gene with protein product	"""kelch/ankyrin repeat containing cyclin A1 interacting protein"""					15159402	Standard	NM_152366		Approved	KARCA1	uc001fxr.3	Q8NEP7	OTTHUMG00000031479	ENST00000368011.4:c.688-15T>A	1.37:g.161069373T>A						KLHDC9_ENST00000490724.2_Intron|KLHDC9_ENST00000368011.4_Intron	p.F231Y	NM_001007255.2	NP_001007256.1	Q8NEP7	KLDC9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		3	834	+	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		0					Q5SY56|Q6NXT9|Q6PKN4|Q8N5E1|Q8NA16	Missense_Mutation	SNP	ENST00000368011.4	37	c.692T>A	CCDS30919.1	.	.	.	.	.	.	.	.	.	.	T	1.010	-0.688258	0.03328	.	.	ENSG00000162755	ENST00000392192	T	0.47528	0.84	4.67	3.51	0.40186	.	.	.	.	.	T	0.08133	0.0203	.	.	.	0.09310	N	1	B	0.29716	0.255	B	0.32393	0.145	T	0.32613	-0.9900	8	0.02654	T	1	.	7.1384	0.25541	0.0:0.1036:0.0:0.8964	.	231	Q8NEP7-2	.	Y	231	ENSP00000376030:F231Y	ENSP00000376030:F231Y	F	+	2	0	KLHDC9	159335997	0.000000	0.05858	0.243000	0.24186	0.112000	0.19704	-0.038000	0.12144	1.964000	0.57103	0.533000	0.62120	TTT		0.507	KLHDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077092.1	NM_152366		19	309	0	0	0	1	0	19	309				
TYW1	55253	broad.mit.edu	37	7	66563653	66563653	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr7:66563653T>C	ENST00000359626.5	+	12	1674	c.1510T>C	c.(1510-1512)Tgt>Cgt	p.C504R		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	504					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ACTCCACCAGTGTAAAATTTC	0.453																																						ENST00000359626.5																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(1510-1512)Tgt>Cgt		tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)							106.0	101.0	102.0					7																	66563653		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66563653T>C	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1510T>C	7.37:g.66563653T>C	ENSP00000352645:p.Cys504Arg						p.C504R	NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN			12	1674	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	504					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.1510T>C	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	T	0.546	-0.851309	0.02651	.	.	ENSG00000198874	ENST00000359626	D	0.91011	-2.77	3.9	-2.13	0.07144	Radical SAM (1);	0.513199	0.20458	U	0.091953	T	0.49830	0.1580	N	0.00031	-2.595	0.38511	D	0.948467	B	0.02656	0.0	B	0.04013	0.001	T	0.60291	-0.7292	10	0.02654	T	1	.	4.3547	0.11172	0.1999:0.5068:0.0:0.2933	.	504	Q9NV66	TYW1_HUMAN	R	504	ENSP00000352645:C504R	ENSP00000352645:C504R	C	+	1	0	TYW1	66201088	0.000000	0.05858	0.966000	0.40874	0.950000	0.60333	0.341000	0.19909	-0.227000	0.09884	-0.461000	0.05368	TGT		0.453	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		4	70	0	0	0	1	0	4	70				
LMAN1L	79748	broad.mit.edu	37	15	75114226	75114226	+	Silent	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr15:75114226C>T	ENST00000309664.5	+	10	1255	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	LMAN1L_ENST00000379709.3_Silent_p.S360S|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	372						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCACCTCTCCATGTCACTCA	0.612																																						ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1114-1116)tcC>tcT		lectin, mannose-binding, 1 like							77.0	70.0	73.0					15																	75114226		2197	4296	6493	SO:0001819	synonymous_variant	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75114226C>T	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1116C>T	15.37:g.75114226C>T						RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Silent_p.S360S	p.S372S	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			10	1255	+			372					Q6UWN2	Silent	SNP	ENST00000309664.5	37	c.1116C>T	CCDS10270.1																																																																																				0.612	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			8	41	0	0	0	1	0	8	41				
OSGIN2	734	broad.mit.edu	37	8	90933337	90933337	+	Silent	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr8:90933337C>T	ENST00000297438.2	+	5	781	c.426C>T	c.(424-426)agC>agT	p.S142S	OSGIN2_ENST00000451899.2_Silent_p.S186S|OSGIN2_ENST00000520659.1_Silent_p.S186S	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	142					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGACAATCAGCTTTGGAAGTT	0.328																																						ENST00000451899.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17						c.(556-558)agC>agT		oxidative stress induced growth inhibitor family member 2							115.0	132.0	126.0					8																	90933337		2203	4300	6503	SO:0001819	synonymous_variant	734				germ cell development|meiosis			g.chr8:90933337C>T	AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.426C>T	8.37:g.90933337C>T						OSGIN2_ENST00000297438.2_Silent_p.S142S|OSGIN2_ENST00000520659.1_Silent_p.S186S	p.S186S	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		5	818	+			142						Silent	SNP	ENST00000297438.2	37	c.558C>T	CCDS6248.1																																																																																				0.328	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375691.1	NM_004337		6	156	0	0	0	1	0	6	156				
SYNE1	23345	broad.mit.edu	37	6	152676065	152676065	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr6:152676065A>T	ENST00000367255.5	-	67	11256	c.10655T>A	c.(10654-10656)gTg>gAg	p.V3552E	SYNE1_ENST00000341594.5_Missense_Mutation_p.V3523E|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3559E|SYNE1_ENST00000448038.1_Missense_Mutation_p.V3559E|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3552E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3552					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGTGTGCAGCACTGAGTTCAA	0.542										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(10654-10656)gTg>gAg		spectrin repeat containing, nuclear envelope 1							125.0	128.0	127.0					6																	152676065		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152676065A>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.10655T>A	6.37:g.152676065A>T	ENSP00000356224:p.Val3552Glu	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.V3559E|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3523E|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3552E|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3559E	p.V3552E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	67	11256	-		Ovarian(120;0.0955)	3552					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.10655T>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	13.16	2.154764	0.38021	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.57436	0.4;1.12;0.4;1.12;0.4	5.22	-3.28	0.05033	.	0.671320	0.13481	N	0.384704	T	0.28134	0.0694	L	0.50333	1.59	0.09310	N	0.999998	P;P;P;P	0.43938	0.822;0.822;0.822;0.785	B;B;B;P	0.45276	0.358;0.358;0.358;0.475	T	0.30909	-0.9962	10	0.62326	D	0.03	.	7.9663	0.30100	0.4309:0.1239:0.4452:0.0	.	3552;3552;3552;3559	B7ZBC3;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	E	3552;3559;3552;3559;3523	ENSP00000356224:V3552E;ENSP00000396024:V3559E;ENSP00000265368:V3552E;ENSP00000390975:V3559E;ENSP00000341887:V3523E	ENSP00000265368:V3552E	V	-	2	0	SYNE1	152717758	0.141000	0.22595	0.136000	0.22124	0.935000	0.57460	2.318000	0.43779	-0.775000	0.04584	-0.379000	0.06801	GTG		0.542	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		7	92	0	0	0	1	0	7	92				
FOLR3	2352	broad.mit.edu	37	11	71850740	71850740	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:71850740C>G	ENST00000445078.2	+	5	794	c.723C>G	c.(721-723)aaC>aaG	p.N241K	FOLR3_ENST00000456237.1_Missense_Mutation_p.N243K|FOLR3_ENST00000442948.2_Missense_Mutation_p.N200K			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	199					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	AGGTCAGCAACTATAGTCGAG	0.602																																						ENST00000445078.2																			0				large_intestine(3)|lung(8)|prostate(2)	13						c.(721-723)aaC>aaG		folate receptor 3 (gamma)	Folic Acid(DB00158)						39.0	42.0	41.0					11																	71850740		2200	4293	6493	SO:0001583	missense	2352				folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71850740C>G	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.723C>G	11.37:g.71850740C>G	ENSP00000390338:p.Asn241Lys					FOLR3_ENST00000456237.1_Missense_Mutation_p.N243K|FOLR3_ENST00000442948.2_Missense_Mutation_p.N200K	p.N241K			P41439	FOLR3_HUMAN			5	794	+			199					J3KQ90|Q05C14	Missense_Mutation	SNP	ENST00000445078.2	37	c.723C>G		.	.	.	.	.	.	.	.	.	.	N	7.166	0.586661	0.13749	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	T;T;T	0.75821	-0.97;-0.97;-0.97	2.94	0.921	0.19403	Folate receptor-like (1);	0.631900	0.12841	U	0.434860	T	0.68732	0.3033	.	.	.	0.09310	N	1	P;B	0.43938	0.822;0.343	B;P	0.48982	0.341;0.597	T	0.57376	-0.7822	8	.	.	.	.	2.5451	0.04735	0.2337:0.4981:0.0:0.2682	.	243;199	E9PGT2;P41439	.;FOLR3_HUMAN	K	241;243;200	ENSP00000390338:N241K;ENSP00000399235:N243K;ENSP00000411161:N200K	.	N	+	3	2	FOLR3	71528388	0.000000	0.05858	0.488000	0.27440	0.009000	0.06853	-0.498000	0.06420	0.088000	0.17205	0.467000	0.42956	AAC		0.602	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000396739.1	NM_000804		4	44	0	0	0	1	0	4	44				
IL18RAP	8807	broad.mit.edu	37	2	103063567	103063567	+	Silent	SNP	C	C	T			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr2:103063567C>T	ENST00000264260.2	+	10	1699	c.1110C>T	c.(1108-1110)acC>acT	p.T370T	IL18RAP_ENST00000409369.1_Silent_p.T228T	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	370					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CCATCGGGACCCTGGTGGCCG	0.587																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1108-1110)acC>acT		interleukin 18 receptor accessory protein							158.0	160.0	160.0					2																	103063567		2203	4300	6503	SO:0001819	synonymous_variant	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103063567C>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1110C>T	2.37:g.103063567C>T						IL18RAP_ENST00000409369.1_Silent_p.T228T	p.T370T	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			10	1699	+			370					B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	c.1110C>T	CCDS2061.1																																																																																				0.587	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		5	167	0	0	0	1	0	5	167				
CD248	57124	broad.mit.edu	37	11	66082816	66082816	+	Silent	SNP	G	G	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr11:66082816G>A	ENST00000311330.3	-	1	1699	c.1683C>T	c.(1681-1683)ctC>ctT	p.L561L	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	561	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GCTGGGCACCGAGGGTGGTGA	0.622																																						ENST00000311330.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						c.(1681-1683)ctC>ctT		CD248 molecule, endosialin	Cefalotin(DB00456)						91.0	101.0	98.0					11																	66082816		2200	4295	6495	SO:0001819	synonymous_variant	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66082816G>A	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1683C>T	11.37:g.66082816G>A						RP11-867G23.13_ENST00000534065.1_RNA	p.L561L	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN			1	1699	-			561			Pro-rich.		Q2M2V5|Q3SX55|Q96KB6	Silent	SNP	ENST00000311330.3	37	c.1683C>T	CCDS8134.1																																																																																				0.622	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		6	58	0	0	0	1	0	6	58				
TRIP12	9320	broad.mit.edu	37	2	230656648	230656649	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr2:230656648_230656649delTC	ENST00000283943.5	-	28	4301_4302	c.4123_4124delGA	c.(4123-4125)gaafs	p.E1375fs	TRIP12_ENST00000389044.4_Frame_Shift_Del_p.E1423fs|TRIP12_ENST00000389045.3_Frame_Shift_Del_p.E1105fs	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1375					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATCTGTGGATTCTCTTTCATCT	0.396																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(4123-4125)afs		thyroid hormone receptor interactor 12																																				SO:0001589	frameshift_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230656648_230656649delTC	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.4123_4124delGA	2.37:g.230656650_230656651delTC	ENSP00000283943:p.Glu1375fs					TRIP12_ENST00000389045.3_Frame_Shift_Del_p.E1105fs|TRIP12_ENST00000389044.4_Frame_Shift_Del_p.E1423fs	p.E1375fs	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	28	4301_4302	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	1375					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Frame_Shift_Del	DEL	ENST00000283943.5	37	c.4123_4124delGA	CCDS33391.1																																																																																				0.396	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		16	98						16	98	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64532452	64532452	+	RNA	DEL	T	T	-	rs545307202|rs397890951	byFrequency	TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr7:64532452delT	ENST00000426828.1	+	0	1228				SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		atgcccagccttttttttttt	0.408													|||unknown(HR)	2890	0.577077	0.5333	0.7089	5008	,	,		11284	0.4891		0.6193	False		,,,				2504	0.59					ENST00000426828.1																			0																																																			0							g.chr7:64532452delT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64532452delT								NR_033416.1						0	1228	+									RNA	DEL	ENST00000426828.1	37																																																																																						0.408	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			2	4						2	4	---	---	---	---
AZGP1P1	646282	broad.mit.edu	37	7	99578706	99578706	+	RNA	DEL	A	A	-	rs199656890		TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr7:99578706delA	ENST00000425474.1	+	0	87					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		cttagtttacagtgaaaacaa	0.522																																						ENST00000425474.1																			0																																																			0							g.chr7:99578706delA	AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99578706delA								NR_036679.1						0	87	+									RNA	DEL	ENST00000425474.1	37																																																																																						0.522	AZGP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344467.1			5	6						5	6	---	---	---	---
AHCYL2	23382	broad.mit.edu	37	7	128865041	128865042	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr7:128865041_128865042insC	ENST00000325006.3	+	1	178_179	c.124_125insC	c.(124-126)gccfs	p.A42fs	AHCYL2_ENST00000446544.2_Frame_Shift_Ins_p.A42fs	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	42					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GGGCGCCATGGCCCCCCCGGCG	0.787																																					Pancreas(160;1736 1964 29875 40941 45605)	ENST00000325006.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(124-126)cccfs		adenosylhomocysteinase-like 2																																				SO:0001589	frameshift_variant	23382				one-carbon metabolic process		adenosylhomocysteinase activity	g.chr7:128865041_128865042insC	AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.131dupC	7.37:g.128865048_128865048dupC	ENSP00000315931:p.Ala42fs					AHCYL2_ENST00000446544.2_Frame_Shift_Ins_p.P42fs	p.P42fs	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN			1	178_179	+			42					B4DIZ5|D9N155|O94917	Frame_Shift_Ins	INS	ENST00000325006.3	37	c.124_125insC	CCDS5812.1																																																																																				0.787	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354065.1			2	4						2	4	---	---	---	---
ZNF598	90850	broad.mit.edu	37	16	2049882	2049883	+	In_Frame_Ins	INS	-	-	TCC	rs61746014|rs377495742|rs370831505|rs141374045	byFrequency	TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr16:2049882_2049883insTCC	ENST00000563630.1	-	9	1744_1745	c.1502_1503insGGA	c.(1501-1503)gac>gaGGAc	p.500_501insE	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000562103.1_In_Frame_Ins_p.500_501insE|ZNF598_ENST00000431526.1_In_Frame_Ins_p.555_556insE			Q86UK7	ZN598_HUMAN	zinc finger protein 598	555							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E555_D556insE(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCGGGCCGCCGTCCTCCTCCTC	0.703														518	0.103435	0.0061	0.1801	5008	,	,		13556	0.0387		0.1501	False		,,,				2504	0.1994					ENST00000563630.1																			1	Insertion - In frame(1)	p.E555_D556insE(1)	kidney(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(1501-1503)ggg>gGGAgg		zinc finger protein 598																																				SO:0001652	inframe_insertion	90850					intracellular	zinc ion binding	g.chr16:2049882_2049883insTCC	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1500_1502dupGGA	16.37:g.2049889_2049891dupTCC	ENSP00000455882:p.Glu500_Glu500dup					ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR|ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR	p.501_502insR			Q86UK7	ZN598_HUMAN			9	1744_1745	-			556					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	In_Frame_Ins	INS	ENST00000563630.1	37	c.1502_1503insGGA																																																																																					0.703	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		3	6						3	6	---	---	---	---
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327																																						ENST00000565421.1																			0																																																			0							g.chr16:53404542_53404543insA																													16.37:g.53404545_53404545dupA														0	410	-									RNA	INS	ENST00000565421.1	37																																																																																						0.327	RP11-44F14.1-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000422364.2			7	23						7	23	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438																																						ENST00000429810.2																			0																																																			0							g.chr16:74372915delT																													16.37:g.74372915delT														0	1404	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.438	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			3	2						3	2	---	---	---	---
BRD4	23476	broad.mit.edu	37	19	15349706	15349708	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr19:15349706_15349708delGCT	ENST00000263377.2	-	19	4087_4089	c.3866_3868delAGC	c.(3865-3870)cagcgc>cgc	p.Q1289del	AC004257.3_ENST00000602793.1_lincRNA	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1289	C-terminal (CTD) region.|Poly-Gln.				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)			tgctcctggcgctgctgctgctg	0.709			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.(3865-3870)cgc>c		bromodomain containing 4				65,3995		3,59,1968						-7.0	0.0			9	158,7724		6,146,3789	no	coding	BRD4	NM_058243.2		9,205,5757	A1A1,A1R,RR		2.0046,1.601,1.8674				223,11719				SO:0001651	inframe_deletion	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.chr19:15349706_15349708delGCT	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.3866_3868delAGC	19.37:g.15349715_15349717delGCT	ENSP00000263377:p.Gln1289del						p.QR1289del	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)		19	4087_4089	-			1289			Poly-Gln.		O60433|Q4G0X8|Q86YS8|Q96PD3	In_Frame_Del	DEL	ENST00000263377.2	37	c.3866_3868delAGC	CCDS12328.1																																																																																				0.709	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		2	4						2	4	---	---	---	---
AC008132.13	0	broad.mit.edu	37	22	18842473	18842473	+	Intron	DEL	G	G	-	rs66480106	byFrequency	TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chr22:18842473delG	ENST00000412938.1	+	4	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													?|GGGG|GGG|unsure	2225	0.444289	0.2716	0.4467	5008	,	,		25744	0.5079		0.5099	False		,,,				2504	0.5429					ENST00000412938.1																			0																																																	SO:0001627	intron_variant	0							g.chr22:18842473delG																												ENST00000412938.1:c.2209-830G>-	22.37:g.18842473delG														0	2208	+									RNA	DEL	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			6	7						6	7	---	---	---	---
MECP2	4204	broad.mit.edu	37	X	153363076	153363078	+	5'UTR	DEL	CCT	CCT	-			TCGA-KK-A8IB-01A-11D-A364-08	TCGA-KK-A8IB-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4f0563c-2660-42eb-aa93-bbe35d095334	5c82813e-861d-4893-bc6c-9cc3c0dba6c3	g.chrX:153363076_153363078delCCT	ENST00000303391.6	-	0	134_136				MECP2_ENST00000407218.1_5'UTR|MECP2_ENST00000453960.2_In_Frame_Del_p.15_16GG>G	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2						adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCCTCGCCTCCTCCTCCTC	0.778																																						ENST00000453960.2																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(43-48)ggc>gg		methyl CpG binding protein 2 (Rett syndrome)			,	22,8,1503		2,0,16,2,2,4,0,613,257					,	3.9	1.0			5	66,8,3449		1,0,34,30,2,1,3,1282,850	no	utr-5,codingComplex	MECP2	NM_004992.3,NM_001110792.1	,	3,0,50,32,4,5,3,1895,1107	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		2.1005,1.9569,2.057	,	,		88,16,4952				SO:0001623	5_prime_UTR_variant	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153363076_153363078delCCT	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.-116AGG>-	X.37:g.153363085_153363087delCCT						MECP2_ENST00000303391.6_5'UTR|MECP2_ENST00000407218.1_5'UTR	p.GG15del	NM_001110792.1	NP_001104262.1	P51608	MECP2_HUMAN			1	99_101	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		0					O15233|Q6QHH9|Q7Z384	In_Frame_Del	DEL	ENST00000303391.6	37	c.45_47delAGG	CCDS14741.1																																																																																				0.778	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		2	4						2	4	---	---	---	---
