#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
ORAI3	93129	broad.mit.edu	37	16	30960744	30960744	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr16:30960744C>G	ENST00000318663.4	+	1	358	c.134C>G	c.(133-135)tCg>tGg	p.S45W	ORAI3_ENST00000562699.1_Missense_Mutation_p.S45W|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000566237.1_Missense_Mutation_p.S45W	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	45					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						AGTCAGCACTCGCTGCGGGCG	0.697																																						ENST00000318663.4																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(133-135)tCg>tGg		ORAI calcium release-activated calcium modulator 3							8.0	10.0	9.0					16																	30960744		2063	4148	6211	SO:0001583	missense	93129					integral to membrane	protein binding	g.chr16:30960744C>G	BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"""ORAI calcium release-activated calcium modulators"""	28185	protein-coding gene	gene with protein product		610930	"""transmembrane protein 142C"""	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.134C>G	16.37:g.30960744C>G	ENSP00000322249:p.Ser45Trp					ORAI3_ENST00000562699.1_Missense_Mutation_p.S45W|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000566237.1_Missense_Mutation_p.S45W	p.S45W	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN			1	358	+			45					Q96BI8	Missense_Mutation	SNP	ENST00000318663.4	37	c.134C>G	CCDS10697.1	.	.	.	.	.	.	.	.	.	.	C	35	5.555463	0.96514	.	.	ENSG00000175938	ENST00000318663;ENST00000420438	T	0.48201	0.82	5.34	5.34	0.76211	.	0.000000	0.45126	D	0.000386	T	0.64875	0.2638	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67221	-0.5725	10	0.87932	D	0	-7.1226	15.9311	0.79659	0.0:1.0:0.0:0.0	.	45	Q9BRQ5	ORAI3_HUMAN	W	45	ENSP00000322249:S45W	ENSP00000322249:S45W	S	+	2	0	ORAI3	30868245	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.755000	0.85180	2.483000	0.83821	0.491000	0.48974	TCG		0.697	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255545.20	NM_152288		5	11	0	0	0	1	0	5	11				
KIAA0100	9703	broad.mit.edu	37	17	26955427	26955427	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:26955427A>C	ENST00000528896.2	-	24	4524	c.4450T>G	c.(4450-4452)Tct>Gct	p.S1484A	KIAA0100_ENST00000389003.3_Missense_Mutation_p.S1341A|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S1341A	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1484						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCCTCAGTAGAAAGATTACGT	0.468																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(4450-4452)Tct>Gct		KIAA0100							169.0	150.0	156.0					17																	26955427		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26955427A>C	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.4450T>G	17.37:g.26955427A>C	ENSP00000436773:p.Ser1484Ala					KIAA0100_ENST00000389003.3_Missense_Mutation_p.S1341A|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S1341A	p.S1484A	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			24	4524	-	Lung NSC(42;0.00431)		1484					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.4450T>G	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.661445	0.67700	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.38401	1.14;1.18	5.65	5.65	0.86999	.	0.106331	0.64402	D	0.000002	T	0.60025	0.2237	M	0.76574	2.34	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.61505	-0.7049	10	0.48119	T	0.1	.	15.8805	0.79201	1.0:0.0:0.0:0.0	.	1484	Q14667	K0100_HUMAN	A	1484;1454;1484;1341	ENSP00000436773:S1484A;ENSP00000446443:S1341A	ENSP00000005905:S1484A	S	-	1	0	KIAA0100	23979554	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.559000	0.90708	2.162000	0.67917	0.533000	0.62120	TCT		0.468	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		45	84	0	0	0	1	0	45	84				
BAG4	9530	broad.mit.edu	37	8	38067700	38067700	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr8:38067700C>T	ENST00000287322.4	+	5	1334	c.1063C>T	c.(1063-1065)Cat>Tat	p.H355Y	BAG4_ENST00000432471.2_Missense_Mutation_p.H319Y	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	355					cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				CACCAGTGACCATCCCAACAA	0.433																																						ENST00000287322.4																			0				breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11						c.(1063-1065)Cat>Tat		BCL2-associated athanogene 4							122.0	98.0	106.0					8																	38067700		2203	4300	6503	SO:0001583	missense	9530				anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity	g.chr8:38067700C>T	AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"""silencer of death domains"""	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.1063C>T	8.37:g.38067700C>T	ENSP00000287322:p.His355Tyr					BAG4_ENST00000432471.2_Missense_Mutation_p.H319Y	p.H355Y	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN			5	1334	+	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	355					B4E217|O95818	Missense_Mutation	SNP	ENST00000287322.4	37	c.1063C>T	CCDS6104.1	.	.	.	.	.	.	.	.	.	.	C	9.143	1.014330	0.19277	.	.	ENSG00000156735	ENST00000432471;ENST00000287322	T;T	0.68331	-0.32;-0.32	5.17	0.992	0.19819	.	1.050660	0.07394	N	0.889582	T	0.43122	0.1233	L	0.27053	0.805	0.09310	N	1	B;P	0.39282	0.261;0.666	B;B	0.28553	0.044;0.091	T	0.13548	-1.0505	10	0.05525	T	0.97	-3.974	9.4567	0.38758	0.2102:0.564:0.2257:0.0	.	319;355	B4E217;O95429	.;BAG4_HUMAN	Y	319;355	ENSP00000393298:H319Y;ENSP00000287322:H355Y	ENSP00000287322:H355Y	H	+	1	0	BAG4	38186857	0.001000	0.12720	0.058000	0.19502	0.724000	0.41520	0.203000	0.17315	0.598000	0.29829	0.644000	0.83932	CAT		0.433	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2	NM_004874		62	53	0	0	0	1	0	62	53				
PTGER2	5732	broad.mit.edu	37	14	52782091	52782091	+	Silent	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr14:52782091C>T	ENST00000245457.5	+	1	979	c.825C>T	c.(823-825)gtC>gtT	p.V275V	PTGER2_ENST00000557436.1_Silent_p.V20V	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	275					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	CCTTCGCCGTCTGCTCCTTGC	0.637																																						ENST00000245457.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(823-825)gtC>gtT		prostaglandin E receptor 2 (subtype EP2), 53kDa	Alprostadil(DB00770)|Iloprost(DB01088)						42.0	47.0	45.0					14																	52782091		2203	4298	6501	SO:0001819	synonymous_variant	5732					integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52782091C>T		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	9594	protein-coding gene	gene with protein product		176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.825C>T	14.37:g.52782091C>T						PTGER2_ENST00000557436.1_Silent_p.V20V	p.V275V	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN			1	979	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		275					D3DSC0|Q52LG8	Silent	SNP	ENST00000245457.5	37	c.825C>T	CCDS9708.1																																																																																				0.637	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1			23	61	0	0	0	1	0	23	61				
ELAC2	60528	broad.mit.edu	37	17	12915013	12915013	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:12915013C>T	ENST00000338034.4	-	7	885	c.646G>A	c.(646-648)Gag>Aag	p.E216K	ELAC2_ENST00000426905.3_Intron|ELAC2_ENST00000395962.2_Missense_Mutation_p.E197K|ELAC2_ENST00000609345.1_5'UTR	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	216					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						TCATTCGACTCGGAGTCTGAA	0.483																																						ENST00000338034.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23	GRCh37	CM012929	ELAC2	M		c.(646-648)Gag>Aag		elaC ribonuclease Z 2							186.0	158.0	167.0					17																	12915013		2203	4300	6503	SO:0001583	missense	60528				tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12915013C>T	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.646G>A	17.37:g.12915013C>T	ENSP00000337445:p.Glu216Lys					ELAC2_ENST00000395962.2_Missense_Mutation_p.E197K|ELAC2_ENST00000426905.3_Intron	p.E216K	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN			7	885	-			216					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	c.646G>A	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406378	0.25378	.	.	ENSG00000006744	ENST00000338034;ENST00000395962	T;T	0.63417	-0.04;-0.04	4.2	1.17	0.20885	.	0.821584	0.11334	N	0.574775	T	0.46619	0.1402	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.19935	0.012;0.04;0.028;0.024	B;B;B;B	0.09377	0.003;0.004;0.004;0.002	T	0.34453	-0.9828	10	0.06365	T	0.9	-0.5855	6.0517	0.19789	0.0:0.6826:0.0:0.3174	.	199;197;39;216	E9PGJ0;G5E9D5;E7ES68;Q9BQ52	.;.;.;RNZ2_HUMAN	K	216;197	ENSP00000337445:E216K;ENSP00000379291:E197K	ENSP00000337445:E216K	E	-	1	0	ELAC2	12855738	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.209000	0.17435	0.327000	0.23409	0.643000	0.83706	GAG		0.483	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			15	103	0	0	0	1	0	15	103				
FLG	2312	broad.mit.edu	37	1	152283461	152283461	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:152283461G>T	ENST00000368799.1	-	3	3936	c.3901C>A	c.(3901-3903)Cag>Aag	p.Q1301K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1301	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)			tctcttgactgctcccgagaa	0.542									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.(3901-3903)Cag>Aag		filaggrin							183.0	181.0	182.0					1																	152283461		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.chr1:152283461G>T	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.3901C>A	1.37:g.152283461G>T	ENSP00000357789:p.Gln1301Lys					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.Q1301K	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3936	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1301			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3901C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	6.928	0.541010	0.13250	.	.	ENSG00000143631	ENST00000368799	T	0.03330	3.97	2.98	1.93	0.25924	.	.	.	.	.	T	0.01320	0.0043	M	0.73962	2.25	0.09310	N	1	P	0.47762	0.9	B	0.38954	0.286	T	0.36359	-0.9751	9	0.05351	T	0.99	.	6.5999	0.22695	0.0:0.0:0.7153:0.2847	.	1301	P20930	FILA_HUMAN	K	1301	ENSP00000357789:Q1301K	ENSP00000357789:Q1301K	Q	-	1	0	FLG	150550085	0.000000	0.05858	0.003000	0.11579	0.052000	0.14988	0.175000	0.16762	1.670000	0.50864	0.299000	0.19835	CAG		0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		49	348	1	0	4.01344e-20	1	4.297e-20	49	348				
RPS6KA4	8986	broad.mit.edu	37	11	64129454	64129454	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:64129454C>T	ENST00000334205.4	+	8	951	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	RPS6KA4_ENST00000528057.1_Missense_Mutation_p.R296W|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.R296W	NM_003942.2	NP_003933.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	296	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|negative regulation of cytokine production (GO:0001818)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|mitogen-activated protein kinase p38 binding (GO:0048273)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						ACAAGAAGTCCGGAACCATCC	0.647																																						ENST00000528057.1																			0				breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						c.(886-888)Cgg>Tgg		ribosomal protein S6 kinase, 90kDa, polypeptide 4							55.0	66.0	62.0					11																	64129454		2201	4297	6498	SO:0001583	missense	8986				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity	g.chr11:64129454C>T	AJ010119	CCDS8073.1, CCDS73313.1	11q11-q13	2011-04-05	2002-08-29		ENSG00000162302	ENSG00000162302			10433	protein-coding gene	gene with protein product		603606	"""ribosomal protein S6 kinase, 90kD, polypeptide 4"""			9792677, 9687510	Standard	XM_005274379		Approved	RSK-B, MSK2	uc001oae.3	O75676	OTTHUMG00000046094	ENST00000334205.4:c.886C>T	11.37:g.64129454C>T	ENSP00000333896:p.Arg296Trp					RPS6KA4_ENST00000334205.4_Missense_Mutation_p.R296W|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.R296W	p.R296W	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN			8	974	+			296			Protein kinase 1.		A8K7Z8|O75585|Q53ES8	Missense_Mutation	SNP	ENST00000334205.4	37	c.886C>T	CCDS8073.1	.	.	.	.	.	.	.	.	.	.	N	20.2	3.949278	0.73787	.	.	ENSG00000162302	ENST00000528057;ENST00000334205;ENST00000294261;ENST00000530504	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	4.01	2.87	0.33458	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059870	0.64402	D	0.000004	T	0.56396	0.1982	L	0.59436	1.845	0.34701	D	0.726778	D;P;D;P	0.63880	0.993;0.86;0.962;0.953	P;B;P;P	0.52957	0.698;0.243;0.714;0.54	T	0.67612	-0.5626	10	0.87932	D	0	.	8.8252	0.35050	0.8039:0.1961:0.0:0.0	.	296;296;296;296	G3XAA9;E9PJN1;O75676;O75676-2	.;.;KS6A4_HUMAN;.	W	296;296;296;280	ENSP00000435580:R296W;ENSP00000333896:R296W;ENSP00000294261:R296W;ENSP00000432945:R280W	ENSP00000294261:R296W	R	+	1	2	RPS6KA4	63886030	0.995000	0.38212	0.992000	0.48379	0.833000	0.47200	3.549000	0.53681	0.515000	0.28320	-0.535000	0.04281	CGG		0.647	RPS6KA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106246.2	NM_003942		29	47	0	0	0	1	0	29	47				
HIST1H2BN	8341	broad.mit.edu	37	6	27806787	27806787	+	Silent	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr6:27806787C>G	ENST00000396980.3	+	1	348	c.348C>G	c.(346-348)acC>acG	p.T116T	HIST1H2BN_ENST00000606613.1_Silent_p.T116T|HIST1H2AK_ENST00000330180.2_5'Flank	NM_003520.3	NP_003511.1	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	116					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						CGGAGGGCACCAAGGCCGTCA	0.637																																						ENST00000606613.1																			0				central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						c.(346-348)acC>acG		histone cluster 1, H2bn							46.0	49.0	48.0					6																	27806787		2203	4299	6502	SO:0001819	synonymous_variant	8341				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27806787C>G	Z83336	CCDS4633.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000233822	ENSG00000233822		"""Histones / Replication-dependent"""	4749	protein-coding gene	gene with protein product		602801	"""H2B histone family, member D"", ""histone 1, H2bn"""	H2BFD		9439656, 12408966	Standard	NM_003520		Approved	H2B/d	uc003njv.3	Q99877	OTTHUMG00000016397	ENST00000396980.3:c.348C>G	6.37:g.27806787C>G						HIST1H2BN_ENST00000396980.3_Silent_p.T116T	p.T116T			Q99877	H2B1N_HUMAN			1	409	+			116					B2R5L4|Q494S8|Q96FB7	Silent	SNP	ENST00000396980.3	37	c.348C>G	CCDS4633.1																																																																																				0.637	HIST1H2BN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043840.2	NM_003520		31	74	0	0	0	1	0	31	74				
RHBDL3	162494	broad.mit.edu	37	17	30648107	30648107	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:30648107G>A	ENST00000269051.4	+	9	1088	c.1074G>A	c.(1072-1074)ctG>ctA	p.L358L	RHBDL3_ENST00000538145.1_Silent_p.L350L|RHBDL3_ENST00000536287.1_Silent_p.L260L	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	358						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TGGTGGTCCTGAGGAACTACG	0.607																																						ENST00000269051.4																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16						c.(1072-1074)ctG>ctA		rhomboid, veinlet-like 3 (Drosophila)							221.0	181.0	194.0					17																	30648107		2203	4300	6503	SO:0001819	synonymous_variant	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30648107G>A	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.1074G>A	17.37:g.30648107G>A						RHBDL3_ENST00000538145.1_Silent_p.L350L|RHBDL3_ENST00000536287.1_Silent_p.L260L	p.L358L	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN			9	1088	+		Breast(31;0.116)|Ovarian(249;0.182)	358					A6NMH1|Q495Y4|Q495Y5|Q495Y6	Silent	SNP	ENST00000269051.4	37	c.1074G>A	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456819	0.43634	.	.	ENSG00000141314	ENST00000431505	T	0.69926	-0.44	5.81	2.13	0.27403	.	.	.	.	.	T	0.56217	0.1970	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.56044	-0.8044	8	0.72032	D	0.01	.	9.7134	0.40258	0.1173:0.2466:0.6361:0.0	.	325	E9PD28	.	K	325	ENSP00000394849:E325K	ENSP00000394849:E325K	E	+	1	0	RHBDL3	27672220	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.503000	0.22610	0.738000	0.32606	0.551000	0.68910	GAG		0.607	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328		29	60	0	0	0	1	0	29	60				
SIK3	23387	broad.mit.edu	37	11	116747727	116747727	+	Silent	SNP	C	C	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:116747727C>A	ENST00000292055.4	-	7	758	c.723G>T	c.(721-723)gtG>gtT	p.V241V	SIK3_ENST00000375300.1_Silent_p.V299V|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000542607.1_Silent_p.V241V|SIK3_ENST00000446921.2_Silent_p.V299V|SIK3_ENST00000434315.2_Silent_p.V140V	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TGGGATCTAACACCAACATAT	0.542																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(895-897)gtG>gtT		SIK family kinase 3							123.0	101.0	109.0					11																	116747727		2201	4296	6497	SO:0001819	synonymous_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116747727C>A	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.723G>T	11.37:g.116747727C>A						SIK3_ENST00000292055.4_Silent_p.V241V|SIK3_ENST00000542607.1_Silent_p.V241V|SIK3_ENST00000446921.2_Silent_p.V299V|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000434315.2_Silent_p.V140V	p.V299V			Q9Y2K2	SIK3_HUMAN			7	902	-			241			UBA.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Silent	SNP	ENST00000292055.4	37	c.897G>T	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	C	9.963	1.223318	0.22457	.	.	ENSG00000160584	ENST00000445177;ENST00000446921;ENST00000413553	T;T	0.65732	-0.17;-0.17	5.45	2.4	0.29515	.	0.000000	0.37304	U	0.002141	T	0.62732	0.2452	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62067	-0.6932	7	0.87932	D	0	.	3.6159	0.08077	0.12:0.517:0.221:0.142	.	.	.	.	F	293;264;202	ENSP00000391295:V293F;ENSP00000414347:V202F	ENSP00000414347:V202F	V	-	1	0	SIK3	116252937	0.508000	0.26154	1.000000	0.80357	0.988000	0.76386	-0.249000	0.08842	0.666000	0.31087	0.655000	0.94253	GTT		0.542	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		22	13	1	0	1.22574e-08	1	1.27762e-08	22	13				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	67	1	0	0.00198382	1	0.0020145	5	67				
ANKRD30B	374860	broad.mit.edu	37	18	14784471	14784471	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr18:14784471G>A	ENST00000358984.4	+	14	1789	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E537K|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	537										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GCCTGCCGTTGAAATGCAAAA	0.303																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1609-1611)Gaa>Aaa		ankyrin repeat domain 30B							130.0	99.0	108.0					18																	14784471		692	1589	2281	SO:0001583	missense	374860							g.chr18:14784471G>A	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1609G>A	18.37:g.14784471G>A	ENSP00000351875:p.Glu537Lys					ANKRD30B_ENST00000447268.2_Missense_Mutation_p.E537K|ANKRD30B_ENST00000579292.1_Intron	p.E537K	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			14	1789	+			537					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1609G>A	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	0.015	-1.558092	0.00910	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.08102	3.13;3.13	1.23	0.319	0.15873	.	.	.	.	.	T	0.04092	0.0114	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.44817	-0.9303	9	0.25106	T	0.35	.	3.7739	0.08652	0.2569:0.0:0.7431:0.0	.	537	F8WAG3	.	K	537	ENSP00000351875:E537K;ENSP00000399031:E537K	ENSP00000351875:E537K	E	+	1	0	ANKRD30B	14774471	0.004000	0.15560	0.008000	0.14137	0.003000	0.03518	0.762000	0.26503	0.097000	0.17492	-1.269000	0.01422	GAA		0.303	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		17	42	0	0	0	1	0	17	42				
OR4C15	81309	broad.mit.edu	37	11	55322004	55322004	+	Silent	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:55322004T>C	ENST00000314644.2	+	1	222	c.222T>C	c.(220-222)aaT>aaC	p.N74N		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	20						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(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AGAATCCAAATGTTCAGGAAA	0.408										HNSCC(20;0.049)																												ENST00000314644.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(220-222)aaT>aaC		olfactory receptor, family 4, subfamily C, member 15							122.0	124.0	123.0					11																	55322004		2201	4296	6497	SO:0001819	synonymous_variant	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322004T>C	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.222T>C	11.37:g.55322004T>C		HNSCC(20;0.049)					p.N74N	NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN			1	222	+			20					Q6IFE2	Silent	SNP	ENST00000314644.2	37	c.222T>C	CCDS31501.1																																																																																				0.408	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		57	101	0	0	0	1	0	57	101				
IGLV5-45	28781	broad.mit.edu	37	22	22730872	22730872	+	RNA	SNP	T	T	G	rs544176906		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr22:22730872T>G	ENST00000390296.2	+	0	395									immunoglobulin lambda variable 5-45																		CAGCAGCGCTTCTCACAGTGA	0.463													T|||	1	0.000199681	0.0	0.0	5008	,	,		17440	0.0		0.001	False		,,,				2504	0.0					ENST00000390296.2																			0																				119.0	114.0	115.0					22																	22730872		1928	4147	6075			28781							g.chr22:22730872T>G	Z73670		22q11.2	2012-02-08			ENSG00000211650	ENSG00000211650		"""Immunoglobulins / IGL locus"""	5924	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151054		22.37:g.22730872T>G														0	395	+									RNA	SNP	ENST00000390296.2	37																																																																																						0.463	IGLV5-45-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321114.2	NG_000002		5	166	0	0	0	1	0	5	166				
NBEAL1	65065	broad.mit.edu	37	2	204053284	204053284	+	Silent	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:204053284C>G	ENST00000449802.1	+	44	7041	c.6708C>G	c.(6706-6708)ctC>ctG	p.L2236L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2236	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TAGAGGCACTCAACGTTTTCT	0.338																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(6706-6708)ctC>ctG		neurobeachin-like 1							137.0	134.0	135.0					2																	204053284		1844	4090	5934	SO:0001819	synonymous_variant	65065						binding	g.chr2:204053284C>G	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6708C>G	2.37:g.204053284C>G							p.L2236L	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			44	7041	+			2236			BEACH.		A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	ENST00000449802.1	37	c.6708C>G	CCDS46495.1																																																																																				0.338	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			4	125	0	0	0	1	0	4	125				
PSME4	23198	broad.mit.edu	37	2	54093970	54093970	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:54093970G>A	ENST00000404125.1	-	45	5366	c.5311C>T	c.(5311-5313)Ctt>Ttt	p.L1771F	PSME4_ENST00000421748.2_Missense_Mutation_p.L915F|PSME4_ENST00000476586.1_5'UTR	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1771					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGACTAGAAAGAACACATGCA	0.448																																						ENST00000404125.1																			0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(5311-5313)Ctt>Ttt		proteasome (prosome, macropain) activator subunit 4							138.0	116.0	124.0					2																	54093970		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54093970G>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.5311C>T	2.37:g.54093970G>A	ENSP00000384211:p.Leu1771Phe					PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Missense_Mutation_p.L915F	p.L1771F	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		45	5366	-			1771					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.5311C>T	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077126	0.76415	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.66460	-0.21;-0.21	5.81	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79592	0.4472	M	0.84683	2.71	0.80722	D	1	D;D;D;D	0.76494	0.996;0.999;0.999;0.998	D;D;D;D	0.71184	0.953;0.961;0.961;0.972	T	0.80531	-0.1341	10	0.56958	D	0.05	-26.6646	6.5623	0.22493	0.2796:0.0:0.7204:0.0	.	1146;915;915;1771	Q14997-2;Q14997-3;F8WB44;Q14997	.;.;.;PSME4_HUMAN	F	915;1771	ENSP00000410830:L915F;ENSP00000384211:L1771F	ENSP00000384211:L1771F	L	-	1	0	PSME4	53947474	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	4.518000	0.60510	2.748000	0.94277	0.462000	0.41574	CTT		0.448	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		9	45	0	0	0	1	0	9	45				
TNS1	7145	broad.mit.edu	37	2	218683106	218683106	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:218683106T>A	ENST00000171887.4	-	24	4089	c.3637A>T	c.(3637-3639)Agc>Tgc	p.S1213C	TNS1_ENST00000419504.1_Missense_Mutation_p.S1200C|TNS1_ENST00000430930.1_Missense_Mutation_p.S1192C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1213					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGGTGATGGCTCAAACTGGGA	0.657																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(3637-3639)Agc>Tgc		tensin 1							51.0	50.0	50.0					2																	218683106		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218683106T>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3637A>T	2.37:g.218683106T>A	ENSP00000171887:p.Ser1213Cys					TNS1_ENST00000430930.1_Missense_Mutation_p.S1192C|TNS1_ENST00000419504.1_Missense_Mutation_p.S1200C	p.S1213C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	24	4089	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1213					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.3637A>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.894405	0.52121	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.92048	-2.96;2.06;-2.95;-2.96	4.71	4.71	0.59529	.	0.463790	0.21861	N	0.068039	D	0.92473	0.7610	L	0.40543	1.245	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.76071	0.987;0.987;0.965	D	0.91078	0.4897	10	0.45353	T	0.12	.	6.9163	0.24361	0.0:0.1004:0.0:0.8996	.	1213;1192;1200	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	C	1213;351;1200;1192	ENSP00000171887:S1213C;ENSP00000394171:S351C;ENSP00000408724:S1200C;ENSP00000406016:S1192C	ENSP00000171887:S1213C	S	-	1	0	TNS1	218391351	1.000000	0.71417	0.965000	0.40720	0.978000	0.69477	1.949000	0.40313	1.984000	0.57885	0.460000	0.39030	AGC		0.657	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		27	38	0	0	0	1	0	27	38				
APAF1	317	broad.mit.edu	37	12	99056236	99056236	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr12:99056236C>T	ENST00000551964.1	+	6	1449	c.713C>T	c.(712-714)tCt>tTt	p.S238F	APAF1_ENST00000339433.3_Missense_Mutation_p.S238F|APAF1_ENST00000357310.1_Missense_Mutation_p.S238F|APAF1_ENST00000333991.1_Missense_Mutation_p.S238F|APAF1_ENST00000547045.1_Missense_Mutation_p.S238F|APAF1_ENST00000550527.1_Missense_Mutation_p.S227F|APAF1_ENST00000552268.1_Missense_Mutation_p.S238F|APAF1_ENST00000359972.2_Missense_Mutation_p.S227F|APAF1_ENST00000549007.1_Missense_Mutation_p.S238F	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	238	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	taaattaGGTCTCTCTTGATC	0.328																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(712-714)tCt>tTt		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						80.0	79.0	79.0					12																	99056236		2202	4299	6501	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99056236C>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.713C>T	12.37:g.99056236C>T	ENSP00000448165:p.Ser238Phe					APAF1_ENST00000550527.1_Missense_Mutation_p.S227F|APAF1_ENST00000549007.1_Missense_Mutation_p.S238F|APAF1_ENST00000551964.1_Missense_Mutation_p.S238F|APAF1_ENST00000547045.1_Missense_Mutation_p.S238F|APAF1_ENST00000359972.2_Missense_Mutation_p.S227F|APAF1_ENST00000339433.3_Missense_Mutation_p.S238F|APAF1_ENST00000333991.1_Missense_Mutation_p.S238F|APAF1_ENST00000552268.1_Missense_Mutation_p.S238F	p.S238F	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			6	1290	+			238			NB-ARC.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.713C>T	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.002570	0.54254	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	5.77	4.88	0.63580	NB-ARC (1);	0.148621	0.64402	D	0.000006	T	0.75910	0.3914	N	0.04335	-0.225	0.47245	D	0.999367	D;D;D;D;P	0.89917	0.999;0.999;1.0;0.984;0.759	D;D;D;D;P	0.80764	0.992;0.993;0.994;0.958;0.484	T	0.72782	-0.4189	10	0.10111	T	0.7	-5.9155	15.3243	0.74147	0.0:0.7356:0.2644:0.0	.	238;238;227;238;227	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	F	238;227;238;238;238;238;227;238;238	ENSP00000448165:S238F;ENSP00000353059:S227F;ENSP00000349862:S238F;ENSP00000341830:S238F;ENSP00000334558:S238F;ENSP00000448826:S238F;ENSP00000448449:S227F;ENSP00000449791:S238F;ENSP00000448161:S238F	ENSP00000334558:S238F	S	+	2	0	APAF1	97580367	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	3.049000	0.49869	1.442000	0.47568	-0.150000	0.13652	TCT		0.328	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		21	30	0	0	0	1	0	21	30				
LRRC3B	116135	broad.mit.edu	37	3	26751887	26751887	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr3:26751887C>G	ENST00000396641.2	+	2	1316	c.724C>G	c.(724-726)Ctg>Gtg	p.L242V	AC114877.3_ENST00000446601.1_lincRNA|LRRC3B_ENST00000456208.2_Missense_Mutation_p.L242V|LRRC3B_ENST00000417744.1_Missense_Mutation_p.L242V	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	242						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CTTGAAATCCCTGCCAAGCAG	0.438																																						ENST00000396641.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						c.(724-726)Ctg>Gtg		leucine rich repeat containing 3B							75.0	72.0	73.0					3																	26751887		2203	4300	6503	SO:0001583	missense	116135					integral to membrane		g.chr3:26751887C>G	AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.724C>G	3.37:g.26751887C>G	ENSP00000379880:p.Leu242Val					LRRC3B_ENST00000456208.2_Missense_Mutation_p.L242V|LRRC3B_ENST00000417744.1_Missense_Mutation_p.L242V	p.L242V	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN			2	1316	+			242					Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	c.724C>G	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185256	0.57909	.	.	ENSG00000179796	ENST00000396641;ENST00000417744;ENST00000456208	T;T;T	0.66280	-0.2;-0.2;-0.2	5.74	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.78078	0.4227	M	0.78637	2.42	0.58432	D	0.999999	D	0.89917	1.0	D	0.68353	0.957	T	0.81493	-0.0908	10	0.87932	D	0	-7.5066	13.9703	0.64235	0.0:0.9276:0.0:0.0724	.	242	Q96PB8	LRC3B_HUMAN	V	242	ENSP00000379880:L242V;ENSP00000406370:L242V;ENSP00000394940:L242V	ENSP00000379880:L242V	L	+	1	2	LRRC3B	26726891	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.020000	0.57189	1.572000	0.49736	0.563000	0.77884	CTG		0.438	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2	NM_052953		17	11	0	0	0	1	0	17	11				
OR10G8	219869	broad.mit.edu	37	11	123901206	123901206	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:123901206G>A	ENST00000431524.1	+	1	910	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAGGAACAAGGAGGTGAAGAA	0.478																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(877-879)Gag>Aag		olfactory receptor, family 10, subfamily G, member 8							106.0	100.0	102.0					11																	123901206		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123901206G>A	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.877G>A	11.37:g.123901206G>A	ENSP00000389072:p.Glu293Lys						p.E293K	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	910	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	293					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.877G>A	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312664	0.40895	.	.	ENSG00000234560	ENST00000431524	T	0.38077	1.16	2.91	1.99	0.26369	.	0.166270	0.28257	N	0.016003	T	0.29882	0.0747	L	0.46741	1.465	0.34585	D	0.714924	P	0.46395	0.877	B	0.40741	0.339	T	0.47407	-0.9120	10	0.72032	D	0.01	.	9.629	0.39768	0.1092:0.0:0.8908:0.0	.	293	Q8NGN5	O10G8_HUMAN	K	293	ENSP00000389072:E293K	ENSP00000389072:E293K	E	+	1	0	OR10G8	123406416	1.000000	0.71417	0.997000	0.53966	0.375000	0.29983	8.161000	0.89655	0.545000	0.28902	-0.262000	0.10625	GAG		0.478	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		41	41	0	0	0	1	0	41	41				
TRAF7	84231	broad.mit.edu	37	16	2226127	2226127	+	Silent	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr16:2226127C>T	ENST00000326181.6	+	19	1956	c.1824C>T	c.(1822-1824)atC>atT	p.I608I		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	608					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						TGGCGGTCATCTCGACGCCAG	0.667																																						ENST00000326181.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						c.(1822-1824)atC>atT		TNF receptor-associated factor 7, E3 ubiquitin protein ligase							48.0	48.0	48.0					16																	2226127		2195	4300	6495	SO:0001819	synonymous_variant	84231				activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:2226127C>T	AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.1824C>T	16.37:g.2226127C>T							p.I608I	NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN			19	1956	+			608					Q9H073	Silent	SNP	ENST00000326181.6	37	c.1824C>T	CCDS10461.1																																																																																				0.667	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250762.1	NM_032271		15	20	0	0	0	1	0	15	20				
KLHL22	84861	broad.mit.edu	37	22	20819551	20819551	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr22:20819551C>T	ENST00000328879.4	-	4	862	c.706G>A	c.(706-708)Gag>Aag	p.E236K	KLHL22_ENST00000440659.2_Missense_Mutation_p.E93K	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	236					cell division (GO:0051301)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein monoubiquitination (GO:0006513)	centrosome (GO:0005813)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|polar microtubule (GO:0005827)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TTTGGGGGCTCGTGCAGCGAG	0.602																																						ENST00000328879.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20						c.(706-708)Gag>Aag		kelch-like family member 22							35.0	33.0	34.0					22																	20819551		2203	4300	6503	SO:0001583	missense	84861				cell division	Cul3-RING ubiquitin ligase complex		g.chr22:20819551C>T		CCDS13780.1	22q11.21	2013-01-30	2013-01-30		ENSG00000099910	ENSG00000099910		"""Kelch-like"", ""BTB/POZ domain containing"""	25888	protein-coding gene	gene with protein product			"""kelch-like 22 (Drosophila)"""			12477932	Standard	NM_032775		Approved	FLJ14360, KELCHL	uc002zsl.2	Q53GT1	OTTHUMG00000150778	ENST00000328879.4:c.706G>A	22.37:g.20819551C>T	ENSP00000331682:p.Glu236Lys					KLHL22_ENST00000440659.2_Missense_Mutation_p.E93K	p.E236K	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		4	862	-	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	236					A8K3Q4|A8MTV3|B7Z2G1|D3DX30|Q96B68|Q96KC6	Missense_Mutation	SNP	ENST00000328879.4	37	c.706G>A	CCDS13780.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357160	0.82243	.	.	ENSG00000099910	ENST00000328879;ENST00000440659;ENST00000451553;ENST00000444967	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.32	5.32	0.75619	BTB/Kelch-associated (2);	0.113365	0.64402	D	0.000007	T	0.72211	0.3432	M	0.66939	2.045	0.58432	D	0.999999	D;D	0.62365	0.991;0.981	P;P	0.50825	0.651;0.574	T	0.70901	-0.4746	10	0.29301	T	0.29	.	16.477	0.84135	0.0:1.0:0.0:0.0	.	93;236	B7Z2G1;Q53GT1	.;KLH22_HUMAN	K	236;93;159;268	ENSP00000331682:E236K;ENSP00000405521:E93K;ENSP00000400095:E159K;ENSP00000403999:E268K	ENSP00000331682:E236K	E	-	1	0	KLHL22	19149551	1.000000	0.71417	0.866000	0.34008	0.954000	0.61252	7.187000	0.77730	2.483000	0.83821	0.655000	0.94253	GAG		0.602	KLHL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320045.2	NM_032775		9	49	0	0	0	1	0	9	49				
MAP3K6	9064	broad.mit.edu	37	1	27687322	27687322	+	Missense_Mutation	SNP	T	T	C	rs371702909		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:27687322T>C	ENST00000493901.1	-	16	2167	c.1928A>G	c.(1927-1929)tAt>tGt	p.Y643C	MAP3K6_ENST00000357582.2_Missense_Mutation_p.Y643C|MAP3K6_ENST00000374040.3_Missense_Mutation_p.Y635C	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	643					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGTACTCATAATCAAACTG	0.687																																						ENST00000374040.3																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(1903-1905)tAt>tGt		mitogen-activated protein kinase kinase kinase 6		T	CYS/TYR	0,4396		0,0,2198	22.0	25.0	24.0		1928	4.4	1.0	1		24	1,8589		0,1,4294	no	missense	MAP3K6	NM_004672.3	194	0,1,6492	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	643/1289	27687322	1,12985	2198	4295	6493	SO:0001583	missense	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27687322T>C	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.1928A>G	1.37:g.27687322T>C	ENSP00000419591:p.Tyr643Cys					MAP3K6_ENST00000493901.1_Missense_Mutation_p.Y643C|MAP3K6_ENST00000357582.2_Missense_Mutation_p.Y643C	p.Y635C			O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	14	2164	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	643					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	c.1904A>G	CCDS299.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.5|24.5	4.540544|4.540544	0.85917|0.85917	0.0|0.0	1.16E-4|1.16E-4	ENSG00000142733|ENSG00000142733	ENST00000472410|ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582	.|T;T;T	.|0.71461	.|-0.57;-0.57;-0.57	4.38|4.38	4.38|4.38	0.52667|0.52667	.|.	.|.	.|.	.|.	.|.	D|D	0.82986|0.82986	0.5156|0.5156	M|M	0.78049|0.78049	2.395|2.395	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	D|D	0.85404|0.85404	0.1133|0.1133	5|9	.|0.87932	.|D	.|0	.|.	12.7103|12.7103	0.57086|0.57086	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|635;643	.|O95382-3;O95382	.|.;M3K6_HUMAN	V|C	367|635;643;366;643	.|ENSP00000363152:Y635C;ENSP00000419591:Y643C;ENSP00000350195:Y643C	.|ENSP00000350195:Y643C	M|Y	-|-	1|2	0|0	MAP3K6|MAP3K6	27559909|27559909	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	7.439000|7.439000	0.80444|0.80444	1.853000|1.853000	0.53794|0.53794	0.459000|0.459000	0.35465|0.35465	ATG|TAT		0.687	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		16	24	0	0	0	1	0	16	24				
CELSR2	1952	broad.mit.edu	37	1	109801519	109801519	+	Missense_Mutation	SNP	C	C	G	rs369399127		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:109801519C>G	ENST00000271332.3	+	2	3837	c.3776C>G	c.(3775-3777)tCc>tGc	p.S1259C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1259	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATCGCCTCCTCCTCCGTGCTC	0.687																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(3775-3777)tCc>tGc		cadherin, EGF LAG seven-pass G-type receptor 2							39.0	35.0	36.0					1																	109801519		2201	4300	6501	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109801519C>G	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3776C>G	1.37:g.109801519C>G	ENSP00000271332:p.Ser1259Cys						p.S1259C	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	2	3837	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1259			EGF-like 1; calcium-binding.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.3776C>G	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.964248	0.34659	.	.	ENSG00000143126	ENST00000271332	T	0.37584	1.19	4.54	3.63	0.41609	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.06690	0.0171	N	0.03608	-0.345	0.33077	D	0.536072	B	0.10296	0.003	B	0.08055	0.003	T	0.09662	-1.0664	9	0.66056	D	0.02	.	6.857	0.24046	0.2857:0.629:0.0:0.0853	.	1259	Q9HCU4	CELR2_HUMAN	C	1259	ENSP00000271332:S1259C	ENSP00000271332:S1259C	S	+	2	0	CELSR2	109603042	0.001000	0.12720	1.000000	0.80357	0.889000	0.51656	1.720000	0.38022	1.275000	0.44379	0.462000	0.41574	TCC		0.687	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		14	18	0	0	0	1	0	14	18				
RNF115	27246	broad.mit.edu	37	1	145682086	145682086	+	Silent	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:145682086T>C	ENST00000369291.5	+	5	696	c.492T>C	c.(490-492)ccT>ccC	p.P164P		NM_014455.2	NP_055270.1			ring finger protein 115											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						CTCCACACCCTTTTTCCTGGT	0.363																																						ENST00000369291.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(490-492)ccT>ccC		ring finger protein 115							197.0	190.0	193.0					1																	145682086		2203	4300	6503	SO:0001819	synonymous_variant	27246				protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:145682086T>C	AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"""RING-type (C3HC4) zinc fingers"""	18154	protein-coding gene	gene with protein product			"""zinc finger protein 364"""	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.492T>C	1.37:g.145682086T>C							p.P164P	NM_014455.2	NP_055270.1	Q9Y4L5	RN115_HUMAN			5	696	+			164						Silent	SNP	ENST00000369291.5	37	c.492T>C	CCDS922.1																																																																																				0.363	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2	NM_014455		5	228	0	0	0	1	0	5	228				
IGHV2-70	28454	broad.mit.edu	37	14	107178825	107178825	+	RNA	SNP	G	G	A	rs61740711	byFrequency	TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr14:107178825G>A	ENST00000390634.2	-	0	427									immunoglobulin heavy variable 2-70																		TGTGGTATCCGTGCACAATAA	0.537																																						ENST00000390634.2																			0															G		1,3993		0,1,1996	226.0	162.0	183.0			-3.2	0.0	14	dbSNP_129	183	0,8322		0,0,4161	no	intergenic				0,1,6157	AA,AG,GG		0.0,0.025,0.0081			107178825	1,12315	1997	4161	6158			28454							g.chr14:107178825G>A	L21969		14q32.33	2012-02-08			ENSG00000211974	ENSG00000211974		"""Immunoglobulins / IGH locus"""	5577	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151870		14.37:g.107178825G>A														0	427	-									RNA	SNP	ENST00000390634.2	37																																																																																						0.537	IGHV2-70-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324215.1	NG_001019		32	227	0	0	0	1	0	32	227				
BSND	7809	broad.mit.edu	37	1	55472843	55472843	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:55472843G>T	ENST00000371265.4	+	3	700	c.446G>T	c.(445-447)gGt>gTt	p.G149V		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	149					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GGAGGAGAAGGTGGCCCTGGC	0.607																																					Ovarian(191;1657 2078 22894 42033 48899)	ENST00000371265.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(445-447)gGt>gTt		Bartter syndrome, infantile, with sensorineural deafness (Barttin)							91.0	82.0	85.0					1																	55472843		2203	4300	6503	SO:0001583	missense	7809					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		g.chr1:55472843G>T	AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"""deafness, autosomal recessive 73"", ""Bartter syndrome, infantile, with sensorineural deafness (Barttin)"""	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.446G>T	1.37:g.55472843G>T	ENSP00000360312:p.Gly149Val						p.G149V	NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN			3	700	+			149					Q6NT28	Missense_Mutation	SNP	ENST00000371265.4	37	c.446G>T	CCDS602.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842786	0.51057	.	.	ENSG00000162399	ENST00000371265	T	0.70869	-0.52	3.69	1.81	0.25067	.	0.318671	0.23021	N	0.052844	T	0.76891	0.4051	M	0.63428	1.95	0.20403	N	0.999907	D	0.67145	0.996	D	0.65323	0.934	T	0.65619	-0.6124	10	0.72032	D	0.01	-5.3017	7.7801	0.29060	0.1917:0.0:0.8083:0.0	.	149	Q8WZ55	BSND_HUMAN	V	149	ENSP00000360312:G149V	ENSP00000360312:G149V	G	+	2	0	BSND	55245431	0.848000	0.29623	0.002000	0.10522	0.273000	0.26683	3.273000	0.51623	0.544000	0.28883	0.478000	0.44815	GGT		0.607	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176		29	54	1	0	5.77227e-19	1	6.14669e-19	29	54				
SP9	100131390	broad.mit.edu	37	2	175201969	175201969	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:175201969C>G	ENST00000394967.2	+	2	1303	c.1156C>G	c.(1156-1158)Cac>Gac	p.H386D	AC018470.1_ENST00000595354.1_Silent_p.V61V	NM_001145250.1	NP_001138722.1	P0CG40	SP9_HUMAN	Sp9 transcription factor	386					embryonic limb morphogenesis (GO:0030326)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(1)	1						TCTGCGGACTCACACGGGCGA	0.662																																						ENST00000394967.2																			0				lung(1)	1						c.(1156-1158)Cac>Gac		Sp9 transcription factor							25.0	28.0	27.0					2																	175201969		692	1591	2283	SO:0001583	missense	100131390				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:175201969C>G		CCDS46453.1	2q31.1	2013-01-08	2012-12-07		ENSG00000217236	ENSG00000217236		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	30690	protein-coding gene	gene with protein product	"""zinc finger protein 990"""		"""Sp9 transcription factor homolog (mouse)"""				Standard	NM_001145250		Approved	ZNF990	uc010zem.1	P0CG40	OTTHUMG00000150371	ENST00000394967.2:c.1156C>G	2.37:g.175201969C>G	ENSP00000378418:p.His386Asp					AC018470.1_ENST00000595354.1_Silent_p.V61V	p.H386D	NM_001145250.1	NP_001138722.1	P0CG40	SP9_HUMAN			2	1303	+			386						Missense_Mutation	SNP	ENST00000394967.2	37	c.1156C>G	CCDS46453.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516557	0.85495	.	.	ENSG00000217236	ENST00000394967	T	0.67698	-0.28	3.18	3.18	0.36537	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85362	0.5679	H	0.94964	3.605	0.50171	D	0.999857	D	0.89917	1.0	D	0.97110	1.0	D	0.89266	0.3601	9	0.87932	D	0	.	13.0509	0.58954	0.0:1.0:0.0:0.0	.	386	P0CG40	SP9_HUMAN	D	386	ENSP00000378418:H386D	ENSP00000378418:H386D	H	+	1	0	SP9	174910215	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.278000	0.65592	1.582000	0.49881	0.407000	0.27541	CAC		0.662	SP9-001	NOVEL	not_organism_supported|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317878.1	NM_001145250		3	9	0	0	0	1	0	3	9				
AMBRA1	55626	broad.mit.edu	37	11	46564345	46564345	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:46564345G>A	ENST00000458649.2	-	7	1640	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*	AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.R408*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.R408*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.R408*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.R408*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.R318*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.R318*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	408					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GCTATTTCTCGGTGATACCTA	0.612																																						ENST00000458649.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39						c.(1222-1224)Cga>Tga		autophagy/beclin-1 regulator 1							69.0	76.0	73.0					11																	46564345		2201	4299	6500	SO:0001587	stop_gained	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46564345G>A	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1222C>T	11.37:g.46564345G>A	ENSP00000415327:p.Arg408*					AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.R408*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.R408*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.R408*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.R318*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.R318*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.R408*	p.R408*			Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	7	1640	-			408					A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Nonsense_Mutation	SNP	ENST00000458649.2	37	c.1222C>T		.	.	.	.	.	.	.	.	.	.	G	39	7.344792	0.98224	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	.	.	.	5.85	4.91	0.64330	.	0.067075	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6293	0.68645	0.0:0.0:0.8487:0.1513	.	.	.	.	X	318;318;408;408;408;318;408;408	.	ENSP00000298834:R408X	R	-	1	2	AMBRA1	46520921	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.416000	0.44644	1.415000	0.47037	0.563000	0.77884	CGA		0.612	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749		43	29	0	0	0	1	0	43	29				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	52	0	0	0	1	0	4	52				
CBFA2T2	9139	broad.mit.edu	37	20	32162040	32162040	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr20:32162040A>G	ENST00000346541.3	+	2	571	c.34A>G	c.(34-36)Ata>Gta	p.I12V	CBFA2T2_ENST00000344201.3_Intron|CBFA2T2_ENST00000397800.1_Intron|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.I12V|CBFA2T2_ENST00000492345.1_5'UTR|CBFA2T2_ENST00000342704.6_Intron|CBFA2T2_ENST00000397798.2_5'UTR	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	12					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CTTGAAAGAAATACAGGTCCT	0.368																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(34-36)Ata>Gta		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							131.0	124.0	126.0					20																	32162040		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32162040A>G	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.34A>G	20.37:g.32162040A>G	ENSP00000262653:p.Ile12Val					CBFA2T2_ENST00000375279.2_Missense_Mutation_p.I12V|CBFA2T2_ENST00000344201.3_Intron|CBFA2T2_ENST00000342704.5_Intron|CBFA2T2_ENST00000397800.1_Intron|CBFA2T2_ENST00000397798.2_5'UTR	p.I12V	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN			2	571	+			12					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.34A>G	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	a	6.687	0.495303	0.12762	.	.	ENSG00000078699	ENST00000375279;ENST00000346541;ENST00000454955	T;T	0.42513	0.97;0.97	2.44	-4.89	0.03103	.	.	.	.	.	T	0.14356	0.0347	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.30679	-0.9970	9	0.02654	T	1	.	5.0542	0.14524	0.5719:0.1673:0.2608:0.0	.	12	O43439	MTG8R_HUMAN	V	12	ENSP00000364428:I12V;ENSP00000262653:I12V	ENSP00000262653:I12V	I	+	1	0	CBFA2T2	31625701	0.019000	0.18553	0.000000	0.03702	0.118000	0.20060	-0.238000	0.08977	-1.304000	0.02329	-0.340000	0.08031	ATA		0.368	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		30	61	0	0	0	1	0	30	61				
SLFN13	146857	broad.mit.edu	37	17	33769076	33769076	+	Silent	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:33769076G>C	ENST00000285013.6	-	5	1703	c.1428C>G	c.(1426-1428)ctC>ctG	p.L476L	SLFN13_ENST00000542635.1_Silent_p.L476L|SLFN13_ENST00000533791.1_Silent_p.L476L|SLFN13_ENST00000534689.1_Silent_p.L158L|SLFN13_ENST00000526861.1_Silent_p.L476L|SLFN13_ENST00000360502.2_Silent_p.L158L	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	476						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CCTGCTCCCTGAGAATGGTGT	0.557																																						ENST00000285013.6																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31						c.(1426-1428)ctC>ctG		schlafen family member 13							146.0	125.0	132.0					17																	33769076		2203	4300	6503	SO:0001819	synonymous_variant	146857					intracellular	ATP binding	g.chr17:33769076G>C	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1428C>G	17.37:g.33769076G>C						SLFN13_ENST00000533791.1_Silent_p.L476L|SLFN13_ENST00000542635.1_Silent_p.L476L|SLFN13_ENST00000526861.1_Silent_p.L476L|SLFN13_ENST00000360502.2_Silent_p.L158L|SLFN13_ENST00000534689.1_Silent_p.L158L	p.L476L	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	5	1703	-			476					E1P645|Q658M1|Q6ZS51|Q96A81	Silent	SNP	ENST00000285013.6	37	c.1428C>G	CCDS32620.1																																																																																				0.557	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682		18	87	0	0	0	1	0	18	87				
WNK3	65267	broad.mit.edu	37	X	54265389	54265389	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chrX:54265389G>A	ENST00000375159.2	-	17	3794	c.3795C>T	c.(3793-3795)agC>agT	p.S1265S	WNK3_ENST00000375169.3_Intron|WNK3_ENST00000354646.2_Silent_p.S1265S			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1265					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AGGATTTCTTGCTAATAGGAT	0.453																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3793-3795)agC>agT		WNK lysine deficient protein kinase 3							77.0	68.0	71.0					X																	54265389		2203	4300	6503	SO:0001819	synonymous_variant	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54265389G>A	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.3795C>T	X.37:g.54265389G>A						WNK3_ENST00000375169.3_Intron|WNK3_ENST00000375159.2_Silent_p.S1265S	p.S1265S	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			18	4233	-			1247					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	ENST00000375159.2	37	c.3795C>T	CCDS14357.1																																																																																				0.453	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		23	8	0	0	0	1	0	23	8				
ACPT	93650	broad.mit.edu	37	19	51295006	51295006	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr19:51295006G>A	ENST00000270593.1	+	4	397	c.397G>A	c.(397-399)Gag>Aag	p.E133K	ACPT_ENST00000270594.3_Intron|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	133						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AGGGAGCCCCGAGGCCCGCTG	0.692																																						ENST00000270593.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11						c.(397-399)Gag>Aag		acid phosphatase, testicular							24.0	27.0	26.0					19																	51295006		2203	4297	6500	SO:0001583	missense	93650					integral to membrane	acid phosphatase activity	g.chr19:51295006G>A	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.397G>A	19.37:g.51295006G>A	ENSP00000270593:p.Glu133Lys					ACPT_ENST00000270594.3_Intron	p.E133K	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	4	397	+		all_neural(266;0.057)	133					C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	ENST00000270593.1	37	c.397G>A	CCDS12802.1	.	.	.	.	.	.	.	.	.	.	g	14.44	2.535416	0.45176	.	.	ENSG00000142513	ENST00000270593	T	0.29397	1.57	4.87	3.81	0.43845	.	0.146717	0.44902	D	0.000410	T	0.16557	0.0398	N	0.17838	0.53	0.46609	D	0.999129	P	0.39903	0.694	B	0.37550	0.253	T	0.03852	-1.0998	10	0.07644	T	0.81	-23.2594	11.8196	0.52230	0.0931:0.0:0.9069:0.0	.	133	Q9BZG2	PPAT_HUMAN	K	133	ENSP00000270593:E133K	ENSP00000270593:E133K	E	+	1	0	ACPT	55986818	0.979000	0.34478	0.663000	0.29738	0.029000	0.11900	3.306000	0.51881	2.435000	0.82474	0.591000	0.81541	GAG		0.692	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068		18	28	0	0	0	1	0	18	28				
NSD1	64324	broad.mit.edu	37	5	176637762	176637762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr5:176637762C>T	ENST00000439151.2	+	5	2407	c.2362C>T	c.(2362-2364)Cga>Tga	p.R788*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.R685*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R519*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R519*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	788					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCCCAAGTTCCGAAGTATAAA	0.413			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	GRCh37	CM052298	NSD1	M		c.(2362-2364)Cga>Tga		nuclear receptor binding SET domain protein 1							58.0	59.0	58.0					5																	176637762		2203	4300	6503	SO:0001587	stop_gained	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176637762C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2362C>T	5.37:g.176637762C>T	ENSP00000395929:p.Arg788*	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Nonsense_Mutation_p.R685*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.R519*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.R519*	p.R788*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	2407	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	788					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.2362C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038611	0.93630	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.35	4.43	0.53597	.	0.130764	0.34110	N	0.004248	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5912	0.56443	0.2315:0.7685:0.0:0.0	.	.	.	.	X	519;519;788;519;685	.	.	R	+	1	2	NSD1	176570368	0.766000	0.28496	0.996000	0.52242	0.533000	0.34776	0.998000	0.29744	2.656000	0.90262	0.655000	0.94253	CGA		0.413	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		27	10	0	0	0	1	0	27	10				
CLTCL1	8218	broad.mit.edu	37	22	19188991	19188991	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr22:19188991C>T	ENST00000263200.10	-	23	3686	c.3614G>A	c.(3613-3615)tGt>tAt	p.C1205Y	CLTCL1_ENST00000427926.1_Missense_Mutation_p.C1205Y|CLTCL1_ENST00000353891.5_Missense_Mutation_p.C1205Y|CLTCL1_ENST00000442042.2_5'UTR	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1205	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CTCCTCGTAACAGCGGTCTCC	0.493			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3613-3615)tGt>tAt		clathrin, heavy chain-like 1							79.0	83.0	82.0					22																	19188991		1964	4174	6138	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19188991C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3614G>A	22.37:g.19188991C>T	ENSP00000445677:p.Cys1205Tyr					CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Missense_Mutation_p.C1205Y|CLTCL1_ENST00000427926.1_Missense_Mutation_p.C1205Y	p.C1205Y	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			23	3686	-	Colorectal(54;0.0993)		1205			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.3614G>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260474	0.59431	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.32023	1.47;1.47;1.47	3.33	3.33	0.38152	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64594	0.2612	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;1.0	T	0.77096	-0.2714	10	0.87932	D	0	-8.0769	14.834	0.70169	0.0:1.0:0.0:0.0	.	1205;1205	P53675-2;P53675	.;CLH2_HUMAN	Y	1205	ENSP00000439662:C1205Y;ENSP00000445677:C1205Y;ENSP00000441158:C1205Y	ENSP00000445677:C1205Y	C	-	2	0	CLTCL1	17568991	1.000000	0.71417	0.993000	0.49108	0.520000	0.34377	6.846000	0.75399	1.668000	0.50843	0.491000	0.48974	TGT		0.493	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		24	59	0	0	0	1	0	24	59				
OR2M3	127062	broad.mit.edu	37	1	248366710	248366710	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:248366710T>A	ENST00000456743.1	+	1	379	c.341T>A	c.(340-342)cTt>cAt	p.L114H		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GAGTGCTTTCTTTTGGCTGTT	0.448																																						ENST00000456743.1																			0				endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(340-342)cTt>cAt		olfactory receptor, family 2, subfamily M, member 3							239.0	245.0	243.0					1																	248366710		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366710T>A		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.341T>A	1.37:g.248366710T>A	ENSP00000389625:p.Leu114His						p.L114H	NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	379	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		114					B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.341T>A	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.135271	0.37728	.	.	ENSG00000228198	ENST00000456743	T	0.00594	6.33	2.36	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27113	U	0.020866	T	0.04861	0.0131	H	0.97940	4.11	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.09862	-1.0655	10	0.87932	D	0	.	10.1219	0.42625	0.0:0.0:0.0:1.0	.	114	Q8NG83	OR2M3_HUMAN	H	114	ENSP00000389625:L114H	ENSP00000389625:L114H	L	+	2	0	OR2M3	246433333	0.031000	0.19500	0.002000	0.10522	0.021000	0.10359	2.442000	0.44873	1.083000	0.41159	0.333000	0.21579	CTT		0.448	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		5	411	0	0	0	1	0	5	411				
NXF4	55999	broad.mit.edu	37	X	101823395	101823395	+	RNA	SNP	G	G	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chrX:101823395G>T	ENST00000360035.2	+	0	3148					NR_002216.1				nuclear RNA export factor 4 pseudogene											endometrium(2)|lung(8)	10						CAGCACGAAGGAGACCCAGAG	0.527																																						ENST00000360035.2																			0				endometrium(2)|lung(8)	10																																														55999							g.chrX:101823395G>T	AK124700		Xq22	2005-01-24			ENSG00000196970	ENSG00000196970			8074	pseudogene	pseudogene		300318	"""nuclear RNA export factor 4"""			11566096	Standard	NR_002216		Approved		uc004ejf.1		OTTHUMG00000039695		X.37:g.101823395G>T								NR_002216.1						0	3148	+									RNA	SNP	ENST00000360035.2	37																																																																																						0.527	NXF4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000095720.1			6	1	1	0	0.00116845	1	0.00119266	6	1				
ZFC3H1	196441	broad.mit.edu	37	12	72057258	72057258	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr12:72057258T>C	ENST00000378743.3	-	1	491	c.133A>G	c.(133-135)Agc>Ggc	p.S45G	THAP2_ENST00000308086.2_5'UTR|THAP2_ENST00000547843.1_5'Flank|ZFC3H1_ENST00000549407.1_5'Flank|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S45G|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S45G	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGCCGCCGCTGCTGCTGCTG	0.637											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(133-135)Agc>Ggc		zinc finger, C3H1-type containing							52.0	64.0	60.0					12																	72057258		2075	4216	6291	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057258T>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.133A>G	12.37:g.72057258T>C	ENSP00000368017:p.Ser45Gly		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S45G|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S45G	p.S45G	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	491	-			45			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.133A>G	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	8.666	0.901632	0.17760	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.33216	1.42	4.99	3.84	0.44239	.	0.217636	0.37012	N	0.002291	T	0.14614	0.0353	N	0.14661	0.345	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.08046	-1.0741	10	0.10636	T	0.68	.	7.4373	0.27162	0.0:0.0974:0.0:0.9026	.	45;45;45	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	G	45	ENSP00000368017:S45G	ENSP00000368017:S45G	S	-	1	0	ZFC3H1	70343525	0.460000	0.25776	0.997000	0.53966	0.947000	0.59692	1.015000	0.29963	0.926000	0.37118	0.455000	0.32223	AGC		0.637	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		4	150	0	0	0	1	0	4	150				
ZNF165	7718	broad.mit.edu	37	6	28056881	28056881	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr6:28056881G>C	ENST00000377325.1	+	4	1647	c.1091G>C	c.(1090-1092)aGa>aCa	p.R364T	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	364					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGGCATCAGAGAATCCACACT	0.433																																						ENST00000377325.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1090-1092)aGa>aCa		zinc finger protein 165							55.0	56.0	56.0					6																	28056881		2203	4300	6503	SO:0001583	missense	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28056881G>C	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.1091G>C	6.37:g.28056881G>C	ENSP00000366542:p.Arg364Thr						p.R364T	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN			4	1647	+			364						Missense_Mutation	SNP	ENST00000377325.1	37	c.1091G>C	CCDS4643.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550431	0.45383	.	.	ENSG00000197279	ENST00000377325	T	0.25414	1.8	3.04	2.15	0.27550	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15219	0.0367	M	0.83603	2.65	0.22531	N	0.999011	P	0.46621	0.881	B	0.42062	0.374	T	0.17868	-1.0355	9	0.87932	D	0	.	4.0564	0.09818	0.1254:0.0:0.5134:0.3611	.	364	P49910	ZN165_HUMAN	T	364	ENSP00000366542:R364T	ENSP00000366542:R364T	R	+	2	0	ZNF165	28164860	0.000000	0.05858	1.000000	0.80357	0.972000	0.66771	-0.069000	0.11542	0.625000	0.30304	0.585000	0.79938	AGA		0.433	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	NM_003447		29	48	0	0	0	1	0	29	48				
TET3	200424	broad.mit.edu	37	2	74274180	74274180	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:74274180A>T	ENST00000409262.3	+	1	731	c.731A>T	c.(730-732)cAg>cTg	p.Q244L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	244					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCCACCCCCCAGGCTTCTTGC	0.587																																						ENST00000409262.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(730-732)cAg>cTg		tet methylcytosine dioxygenase 3							46.0	49.0	48.0					2																	74274180		2024	4183	6207	SO:0001583	missense	200424						metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:74274180A>T		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.731A>T	2.37:g.74274180A>T	ENSP00000386869:p.Gln244Leu						p.Q244L	NM_144993.1	NP_659430.1	O43151	TET3_HUMAN			1	731	+			244					A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	c.731A>T	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	A	10.52	1.372445	0.24857	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.24350	1.86;2.7	4.45	3.27	0.37495	.	.	.	.	.	T	0.13586	0.0329	N	0.08118	0	0.27078	N	0.963151	B	0.23735	0.09	B	0.21360	0.034	T	0.18524	-1.0334	9	0.38643	T	0.18	.	10.3319	0.43827	0.6894:0.3106:0.0:0.0	.	244	O43151	TET3_HUMAN	L	286;244;244	ENSP00000307803:Q286L;ENSP00000386869:Q244L	ENSP00000233310:Q244L	Q	+	2	0	TET3	74127688	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.235000	0.32671	1.003000	0.39130	0.459000	0.35465	CAG		0.587	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4			58	36	0	0	0	1	0	58	36				
MTA2	9219	broad.mit.edu	37	11	62365526	62365526	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:62365526G>C	ENST00000278823.2	-	6	849	c.460C>G	c.(460-462)Caa>Gaa	p.Q154E	MTA2_ENST00000527204.1_5'UTR|MTA2_ENST00000524902.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	154	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						ATCTCAGCTTGGTATTTGCAA	0.478																																						ENST00000278823.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						c.(460-462)Caa>Gaa		metastasis associated 1 family, member 2							161.0	155.0	157.0					11																	62365526		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62365526G>C	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.460C>G	11.37:g.62365526G>C	ENSP00000278823:p.Gln154Glu					MTA2_ENST00000527204.1_5'UTR|MTA2_ENST00000524902.1_5'UTR	p.Q154E	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN			6	849	-			154			ELM2.		Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.460C>G	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600324	0.87055	.	.	ENSG00000149480	ENST00000278823	D	0.96619	-4.07	5.73	4.79	0.61399	ELM2 domain (2);	0.054825	0.85682	D	0.000000	D	0.96445	0.8840	M	0.90082	3.085	0.80722	D	1	B	0.16396	0.017	B	0.16722	0.016	D	0.94911	0.8065	10	0.87932	D	0	-9.9116	13.6357	0.62221	0.0:0.0:0.844:0.156	.	154	O94776	MTA2_HUMAN	E	154	ENSP00000278823:Q154E	ENSP00000278823:Q154E	Q	-	1	0	MTA2	62122102	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.835000	0.99442	1.374000	0.46228	0.655000	0.94253	CAA		0.478	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		110	193	0	0	0	1	0	110	193				
PCDH9	5101	broad.mit.edu	37	13	67802354	67802354	+	Silent	SNP	G	G	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr13:67802354G>T	ENST00000377865.2	-	1	353	c.219C>A	c.(217-219)gcC>gcA	p.A73A	PCDH9_ENST00000456367.1_Silent_p.A73A|PCDH9_ENST00000377861.3_Silent_p.A73A|PCDH9_ENST00000544246.1_Silent_p.A73A|PCDH9_ENST00000328454.5_Silent_p.A73A			Q9HC56	PCDH9_HUMAN	protocadherin 9	73	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCACCAAAGGGGCATCCCCAG	0.483																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(217-219)gcC>gcA		protocadherin 9							66.0	63.0	64.0					13																	67802354		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802354G>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.219C>A	13.37:g.67802354G>T						PCDH9_ENST00000328454.5_Silent_p.A73A|PCDH9_ENST00000377861.3_Silent_p.A73A|PCDH9_ENST00000456367.1_Silent_p.A73A|PCDH9_ENST00000377865.2_Silent_p.A73A	p.A73A	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	910	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	73			Cadherin 1.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.219C>A	CCDS9444.1																																																																																				0.483	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		23	36	1	0	2.27731e-05	1	2.36121e-05	23	36				
C7orf60	154743	broad.mit.edu	37	7	112579780	112579780	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:112579780T>C	ENST00000297145.4	-	1	191	c.26A>G	c.(25-27)aAt>aGt	p.N9S	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	9							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						ACGAGCAGTATTTCGGCCGCC	0.721																																						ENST00000297145.4																			0				breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(25-27)aAt>aGt		chromosome 7 open reading frame 60							13.0	15.0	15.0					7																	112579780		1832	4061	5893	SO:0001583	missense	154743							g.chr7:112579780T>C		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.26A>G	7.37:g.112579780T>C	ENSP00000297145:p.Asn9Ser						p.N9S	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN			1	191	-			9					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.26A>G	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.827185	0.00584	.	.	ENSG00000164603	ENST00000297145	.	.	.	4.93	2.16	0.27623	.	0.669239	0.13858	N	0.357919	T	0.14614	0.0353	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32428	-0.9907	9	0.06494	T	0.89	3.4963	6.7154	0.23300	0.0:0.7081:0.0:0.2919	.	9	Q1RMZ1	CG060_HUMAN	S	9	.	ENSP00000297145:N9S	N	-	2	0	C7orf60	112367016	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.698000	0.25571	0.300000	0.22699	-0.403000	0.06358	AAT		0.721	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		19	77	0	0	0	1	0	19	77				
ELMO3	79767	broad.mit.edu	37	16	67237418	67237418	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr16:67237418T>C	ENST00000360833.1	+	18	2047	c.1990T>C	c.(1990-1992)Ttc>Ctc	p.F664L	ELMO3_ENST00000477898.1_Missense_Mutation_p.F515L|ELMO3_ENST00000393997.2_Missense_Mutation_p.F681L|MIR328_ENST00000385213.1_RNA			Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	628	PH.				apoptotic process (GO:0006915)|phagocytosis (GO:0006909)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TGAGTTGGCCTTCTCAATCAG	0.647																																						ENST00000393997.2																			0				cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18						c.(2041-2043)Ttc>Ctc		engulfment and cell motility 3							87.0	91.0	90.0					16																	67237418		2189	4296	6485	SO:0001583	missense	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67237418T>C		CCDS10833.2	16q22.1	2010-03-18	2006-01-20		ENSG00000102890	ENSG00000102890		"""Engulfment and cell motility proteins"""	17289	protein-coding gene	gene with protein product		606422	"""engulfment and cell motility 3 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_024712		Approved	FLJ13824, CED12, ELMO-3, CED-12	uc002esa.3	Q96BJ8	OTTHUMG00000133570	ENST00000360833.1:c.1990T>C	16.37:g.67237418T>C	ENSP00000354077:p.Phe664Leu					ELMO3_ENST00000477898.1_Missense_Mutation_p.F515L|ELMO3_ENST00000360833.1_Missense_Mutation_p.F664L	p.F681L	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	19	2098	+		Ovarian(137;0.0563)	628					B4DV86|Q9H8A5	Missense_Mutation	SNP	ENST00000360833.1	37	c.2041T>C		.	.	.	.	.	.	.	.	.	.	T	17.11	3.304832	0.60305	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.80123	-1.34;-1.34	5.02	5.02	0.67125	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	D	0.89315	0.6680	M	0.80332	2.49	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.78314	0.99;0.991;0.991	D	0.90789	0.4685	10	0.87932	D	0	-19.4166	13.5846	0.61921	0.0:0.0:0.0:1.0	.	628;664;681	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	L	664;681	ENSP00000354077:F664L;ENSP00000377566:F681L	ENSP00000354077:F664L	F	+	1	0	ELMO3	65794919	1.000000	0.71417	0.998000	0.56505	0.590000	0.36582	4.323000	0.59221	1.904000	0.55121	0.459000	0.35465	TTC		0.647	ELMO3-001	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000257667.2	NM_024712		18	44	0	0	0	1	0	18	44				
ANO5	203859	broad.mit.edu	37	11	22283839	22283839	+	Missense_Mutation	SNP	G	G	A	rs538406891		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:22283839G>A	ENST00000324559.8	+	16	2112	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	CTD-3064C13.1_ENST00000526935.1_RNA	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	599					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGGAGAAGTGAAGAGGTAAG	0.353																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1795-1797)Gaa>Aaa		anoctamin 5							95.0	95.0	95.0					11																	22283839		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22283839G>A	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1795G>A	11.37:g.22283839G>A	ENSP00000315371:p.Glu599Lys						p.E599K	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			16	2112	+			599						Missense_Mutation	SNP	ENST00000324559.8	37	c.1795G>A	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	34	5.384509	0.95967	.	.	ENSG00000171714	ENST00000324559	T	0.65364	-0.15	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.84279	0.5437	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85565	0.1230	10	0.62326	D	0.03	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	599	Q75V66	ANO5_HUMAN	K	599	ENSP00000315371:E599K	ENSP00000315371:E599K	E	+	1	0	ANO5	22240415	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	9.855000	0.99526	2.873000	0.98535	0.561000	0.74099	GAA		0.353	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		20	29	0	0	0	1	0	20	29				
IGLV3-12	28802	broad.mit.edu	37	22	23115056	23115056	+	RNA	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr22:23115056G>A	ENST00000390313.2	+	0	337									immunoglobulin lambda variable 3-12																		TCAGGTGTGGGACAGTAGTAG	0.592																																						ENST00000390313.2																			0																				49.0	50.0	50.0					22																	23115056		2067	4211	6278			28802							g.chr22:23115056G>A	Z73658		22q11.2	2012-02-08			ENSG00000211667	ENSG00000211667		"""Immunoglobulins / IGL locus"""	5898	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151233		22.37:g.23115056G>A														0	337	+									RNA	SNP	ENST00000390313.2	37																																																																																						0.592	IGLV3-12-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321838.1	NG_000002		16	29	0	0	0	1	0	16	29				
SEC24B	10427	broad.mit.edu	37	4	110442743	110442743	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr4:110442743G>A	ENST00000265175.5	+	14	2524	c.2469G>A	c.(2467-2469)ctG>ctA	p.L823L	SEC24B_ENST00000504968.2_Silent_p.L853L|SEC24B_ENST00000399100.2_Silent_p.L788L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	823					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAGGACTTCTGCAATCCAGAG	0.373																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2467-2469)ctG>ctA		SEC24 family member B							60.0	52.0	55.0					4																	110442743		1846	4100	5946	SO:0001819	synonymous_variant	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110442743G>A	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.2469G>A	4.37:g.110442743G>A						SEC24B_ENST00000399100.2_Silent_p.L788L|SEC24B_ENST00000504968.2_Silent_p.L853L	p.L823L	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	14	2524	+		Hepatocellular(203;0.217)	823					B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	ENST00000265175.5	37	c.2469G>A	CCDS47124.1																																																																																				0.373	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			19	31	0	0	0	1	0	19	31				
TLR4	7099	broad.mit.edu	37	9	120475583	120475583	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr9:120475583C>G	ENST00000355622.6	+	3	1278	c.1177C>G	c.(1177-1179)Caa>Gaa	p.Q393E	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.Q353E	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	393					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TTGCTGTTCTCAAAGTGATTT	0.388																																						ENST00000355622.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						c.(1177-1179)Caa>Gaa		toll-like receptor 4							52.0	54.0	54.0					9																	120475583		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475583C>G	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1177C>G	9.37:g.120475583C>G	ENSP00000363089:p.Gln393Glu					TLR4_ENST00000394487.4_Missense_Mutation_p.Q353E|TLR4_ENST00000472304.1_3'UTR	p.Q393E	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN			3	1278	+			393					A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.1177C>G	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.964062	0.00461	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.00940	5.52;5.52	5.7	-7.51	0.01346	.	3.116660	0.00589	N	0.000340	T	0.00695	0.0023	N	0.12746	0.255	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.48091	-0.9065	10	0.30078	T	0.28	.	7.9053	0.29759	0.0767:0.3019:0.4796:0.1418	.	393	O00206	TLR4_HUMAN	E	353;393	ENSP00000377997:Q353E;ENSP00000363089:Q393E	ENSP00000363089:Q393E	Q	+	1	0	TLR4	119515404	0.000000	0.05858	0.001000	0.08648	0.207000	0.24258	-2.603000	0.00890	-1.170000	0.02769	-0.157000	0.13467	CAA		0.388	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		34	84	0	0	0	1	0	34	84				
ZNF586	54807	broad.mit.edu	37	19	58301696	58301696	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr19:58301696C>T	ENST00000598183.1	+	2	267	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Missense_Mutation_p.L31F			Q9NXT0	ZN586_HUMAN	zinc finger protein 586	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAATGGAGTCTTCTTAATGA	0.468																																						ENST00000598183.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15						c.(91-93)Ctt>Ttt		zinc finger protein 586							345.0	305.0	317.0					19																	58301696		876	1991	2867	SO:0001583	missense	54807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58301696C>T	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000598183.1:c.91C>T	19.37:g.58301696C>T	ENSP00000471663:p.Leu31Phe					ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Missense_Mutation_p.L31F	p.L31F			Q9NXT0	ZN586_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	267	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	31			KRAB.		A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	ENST00000598183.1	37	c.91C>T		.	.	.	.	.	.	.	.	.	.	C	13.98	2.397710	0.42512	.	.	ENSG00000083828	ENST00000430084;ENST00000308137	.	.	.	3.1	0.689	0.18033	.	.	.	.	.	T	0.48277	0.1491	.	.	.	.	.	.	.	.	.	.	.	.	T	0.58064	-0.7702	4	0.66056	D	0.02	.	7.5537	0.27812	0.4625:0.5375:0.0:0.0	.	.	.	.	F	31	.	ENSP00000308355:L31F	L	+	1	0	ZNF586	62993508	0.061000	0.20836	0.000000	0.03702	0.513000	0.34164	0.627000	0.24506	0.136000	0.18733	0.306000	0.20318	CTT		0.468	ZNF586-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000466824.1	NM_017652		11	246	0	0	0	1	0	11	246				
LURAP1L	286343	broad.mit.edu	37	9	12775944	12775944	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr9:12775944C>A	ENST00000319264.3	+	1	925	c.230C>A	c.(229-231)cCa>cAa	p.P77Q	RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	NM_203403.1	NP_981948.1	Q8IV03	LUR1L_HUMAN	leucine rich adaptor protein 1-like	80	Ser-rich.																TCGTCCTCCCCAACCTCTGGC	0.657																																						ENST00000319264.3																			0											c.(229-231)cCa>cAa		leucine rich adaptor protein 1-like							16.0	11.0	13.0					9																	12775944		2193	4293	6486	SO:0001583	missense	286343							g.chr9:12775944C>A	AK095824	CCDS6473.1	9p22.3	2012-02-01	2012-02-01	2012-02-01	ENSG00000153714	ENSG00000153714			31452	protein-coding gene	gene with protein product	"""similar to DNA segment, Chr 4, Brigham & Womens Genetics 0951 expressed"""		"""chromosome 9 open reading frame 150"""	C9orf150		12766061	Standard	NM_203403		Approved	MGC46502, FLJ38505, bA3L8.2	uc003zkw.3	Q8IV03	OTTHUMG00000019557	ENST00000319264.3:c.230C>A	9.37:g.12775944C>A	ENSP00000321026:p.Pro77Gln					LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	p.P77Q	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN			1	925	+			80			Ser-rich.		Q5VZX7|Q8N923|Q8NCG2	Missense_Mutation	SNP	ENST00000319264.3	37	c.230C>A	CCDS6473.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272533	0.59649	.	.	ENSG00000153714	ENST00000319264	T	0.44083	0.93	5.1	4.19	0.49359	.	0.698421	0.12986	N	0.422877	T	0.46600	0.1401	L	0.29908	0.895	0.28959	N	0.889928	D	0.71674	0.998	D	0.66351	0.943	T	0.27400	-1.0075	10	0.18710	T	0.47	.	9.8963	0.41320	0.0:0.9038:0.0:0.0962	.	80	Q8IV03	CI150_HUMAN	Q	77	ENSP00000321026:P77Q	ENSP00000321026:P77Q	P	+	2	0	C9orf150	12765944	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.604000	0.46274	1.135000	0.42183	0.484000	0.47621	CCA		0.657	LURAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051730.1	NM_203403		5	3	1	0	0.014758	1	0.0149094	5	3				
ZNF646	9726	broad.mit.edu	37	16	31092273	31092273	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr16:31092273C>T	ENST00000394979.2	+	1	5051	c.4628C>T	c.(4627-4629)tCa>tTa	p.S1543L	ZNF646_ENST00000300850.5_Missense_Mutation_p.S1543L			O15015	ZN646_HUMAN	zinc finger protein 646	1543					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TACTGCCAGTCAGGCAGCCTC	0.542																																						ENST00000394979.2																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						c.(4627-4629)tCa>tTa		zinc finger protein 646							73.0	81.0	78.0					16																	31092273		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31092273C>T	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.4628C>T	16.37:g.31092273C>T	ENSP00000378429:p.Ser1543Leu					ZNF646_ENST00000300850.5_Missense_Mutation_p.S1543L	p.S1543L			O15015	ZN646_HUMAN			1	5051	+			1543					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.4628C>T		.	.	.	.	.	.	.	.	.	.	C	4.256	0.046470	0.08243	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.28069	1.63;1.63	5.79	3.83	0.44106	.	.	.	.	.	T	0.23289	0.0563	L	0.28504	0.86	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.17653	-1.0362	9	0.44086	T	0.13	-0.8639	9.9734	0.41768	0.0:0.7857:0.1381:0.0763	.	1543	O15015-2	.	L	1543	ENSP00000300850:S1543L;ENSP00000378429:S1543L	ENSP00000300850:S1543L	S	+	2	0	ZNF646	30999774	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.336000	0.19823	0.787000	0.33731	0.650000	0.86243	TCA		0.542	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		40	53	0	0	0	1	0	40	53				
SMARCA4	6597	broad.mit.edu	37	19	11151981	11151981	+	Splice_Site	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr19:11151981A>G	ENST00000429416.3	+	31	4451		c.e31-1		SMARCA4_ENST00000541122.2_Missense_Mutation_p.K1360R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.K1360R|SMARCA4_ENST00000450717.3_Missense_Mutation_p.K1360R|SMARCA4_ENST00000444061.3_Splice_Site|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000358026.2_Splice_Site|SMARCA4_ENST00000413806.3_Missense_Mutation_p.K1360R|SMARCA4_ENST00000590574.1_Splice_Site|SMARCA4_ENST00000344626.4_Splice_Site	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4						aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTGACCCTGAAGGCCATCGAG	0.632			"""F, N, Mis"""		NSCLC																																	ENST00000413806.3				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(4078-4080)aAg>aGg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							56.0	65.0	62.0					19																	11151981		2202	4299	6501	SO:0001630	splice_region_variant	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11151981A>G	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4171-1A>G	19.37:g.11151981A>G						SMARCA4_ENST00000358026.2_Splice_Site|SMARCA4_ENST00000450717.3_Missense_Mutation_p.K1360R|SMARCA4_ENST00000541122.2_Missense_Mutation_p.K1360R|SMARCA4_ENST00000429416.3_Splice_Site|SMARCA4_ENST00000344626.4_Splice_Site|SMARCA4_ENST00000444061.3_Splice_Site|SMARCA4_ENST00000589677.1_Missense_Mutation_p.K1360R|SMARCA4_ENST00000590574.1_Splice_Site	p.K1360R	NM_001128845.1|NM_001128847.1	NP_001122317.1|NP_001122319.1	P51532	SMCA4_HUMAN			28	4079	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1390			Poly-Glu.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.4079A>G	CCDS12253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.0|21.0	4.075065|4.075065	0.76415|0.76415	.|.	.|.	ENSG00000127616|ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000344626;ENST00000541122;ENST00000444061|ENST00000421844;ENST00000450717;ENST00000413806	.|D;D	.|0.86627	.|-2.15;-2.15	4.38|4.38	4.38|4.38	0.52667|0.52667	.|.	.|.	.|.	.|.	.|.	.|T	.|0.78780	.|0.4337	.|.	.|.	.|.	0.44104|0.44104	D|D	0.99687|0.99687	.|B;B	.|0.12013	.|0.005;0.004	.|B;B	.|0.17979	.|0.02;0.006	.|T	.|0.71876	.|-0.4460	.|8	.|0.18276	.|T	.|0.48	.|.	11.5741|11.5741	0.50852|0.50852	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1360;1360	.|B1A8Z6;B1A8Z5	.|.;.	.|R	-1|1424;1360;1360	.|ENSP00000397783:K1360R;ENSP00000414727:K1360R	.|ENSP00000414727:K1360R	.|K	+|+	.|2	.|0	SMARCA4|SMARCA4	11012981|11012981	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.983000|8.983000	0.93477|0.93477	1.842000|1.842000	0.53543|0.53543	0.383000|0.383000	0.25322|0.25322	.|AAG		0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	Intron	29	72	0	0	0	1	0	29	72				
VPS13C	54832	broad.mit.edu	37	15	62212349	62212349	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr15:62212349T>A	ENST00000261517.5	-	57	7467	c.7394A>T	c.(7393-7395)gAg>gTg	p.E2465V	VPS13C_ENST00000395898.3_Missense_Mutation_p.E2422V|VPS13C_ENST00000249837.3_Missense_Mutation_p.E2422V|VPS13C_ENST00000395896.4_Missense_Mutation_p.E2465V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCTGGCATACTCCAGTTCCAA	0.423																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(7393-7395)gAg>gTg		vacuolar protein sorting 13 homolog C (S. cerevisiae)							109.0	106.0	107.0					15																	62212349		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62212349T>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.7394A>T	15.37:g.62212349T>A	ENSP00000261517:p.Glu2465Val					VPS13C_ENST00000395896.4_Missense_Mutation_p.E2465V|VPS13C_ENST00000249837.3_Missense_Mutation_p.E2422V|VPS13C_ENST00000395898.3_Missense_Mutation_p.E2422V	p.E2465V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			57	7467	-			2465						Missense_Mutation	SNP	ENST00000261517.5	37	c.7394A>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.679246	0.88542	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.48201	0.82;0.82;0.99	5.56	5.56	0.83823	.	0.218410	0.45606	D	0.000351	T	0.61098	0.2320	M	0.72118	2.19	0.80722	D	1	B;P;B;P	0.48911	0.059;0.917;0.125;0.865	B;P;B;P	0.52386	0.061;0.697;0.09;0.501	T	0.65940	-0.6046	10	0.72032	D	0.01	.	15.7083	0.77602	0.0:0.0:0.0:1.0	.	2422;2465;2422;2465	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	V	2422;2465;2465;2465	ENSP00000249837:E2422V;ENSP00000261517:E2465V;ENSP00000379233:E2465V	ENSP00000249837:E2422V	E	-	2	0	VPS13C	59999641	1.000000	0.71417	0.982000	0.44146	0.802000	0.45316	5.866000	0.69590	2.106000	0.64143	0.528000	0.53228	GAG		0.423	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		34	73	0	0	0	1	0	34	73				
MCM2	4171	broad.mit.edu	37	3	127323763	127323763	+	Missense_Mutation	SNP	G	G	A	rs190889381		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr3:127323763G>A	ENST00000265056.7	+	4	681	c.437G>A	c.(436-438)cGc>cAc	p.R146H		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	146	Interaction with KAT7. {ECO:0000250}.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)	p.R146H(1)		ovary(3)|skin(2)|stomach(1)	6						GACGAGGAGCGCCCTGCCCGC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		15344	0.0		0.001	False		,,,				2504	0.0					ENST00000265056.7																			1	Substitution - Missense(1)	p.R146H(1)	endometrium(1)	ovary(3)|skin(2)|stomach(1)	6						c.(436-438)cGc>cAc		minichromosome maintenance complex component 2							33.0	32.0	32.0					3																	127323763		2201	4299	6500	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127323763G>A	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.437G>A	3.37:g.127323763G>A	ENSP00000265056:p.Arg146His						p.R146H	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN			4	681	+			146			Interaction with MYST2 (By similarity).		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.437G>A	CCDS3043.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	17.91|17.91	3.505179|3.505179	0.64410|0.64410	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000491422|ENST00000265056;ENST00000539922;ENST00000543142	.|T	.|0.22945	.|1.93	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.408690	.|0.25830	.|N	.|0.028037	T|T	0.50343|0.50343	0.1610|0.1610	M|M	0.76170|0.76170	2.325|2.325	0.80722|0.80722	D|D	1|1	.|P;D;D	.|0.65815	.|0.954;0.964;0.995	.|P;B;P	.|0.60886	.|0.557;0.289;0.88	T|T	0.51694|0.51694	-0.8673|-0.8673	5|10	.|0.54805	.|T	.|0.06	-28.2586|-28.2586	18.9442|18.9442	0.92615|0.92615	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|127;16;146	.|F5H1E9;B4DSV5;P49736	.|.;.;MCM2_HUMAN	T|H	9|146;50;127	.|ENSP00000265056:R146H	.|ENSP00000265056:R146H	A|R	+|+	1|2	0|0	MCM2|MCM2	128806453|128806453	1.000000|1.000000	0.71417|0.71417	0.935000|0.935000	0.37517|0.37517	0.892000|0.892000	0.51952|0.51952	7.124000|7.124000	0.77185|0.77185	2.466000|2.466000	0.83321|0.83321	0.591000|0.591000	0.81541|0.81541	GCC|CGC		0.647	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			26	14	0	0	0	1	0	26	14				
RAB35	11021	broad.mit.edu	37	12	120535128	120535128	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr12:120535128A>G	ENST00000229340.5	-	6	715	c.527T>C	c.(526-528)cTg>cCg	p.L176P	RAB35_ENST00000432953.2_5'UTR|RAB35_ENST00000534951.1_Silent_p.P134P|RAB35_ENST00000543364.1_5'UTR	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	176					antigen processing and presentation (GO:0019882)|cellular response to nerve growth factor stimulus (GO:1990090)|cytokinesis (GO:0000910)|endosomal transport (GO:0016197)|GTP catabolic process (GO:0006184)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|protein localization (GO:0008104)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cell projection membrane (GO:0031253)|clathrin-coated endocytic vesicle (GO:0045334)|coated pit (GO:0005905)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		CTGTTTTGCCAGGTTGTCTTT	0.547																																						ENST00000229340.5																			0				endometrium(1)|ovary(1)	2						c.(526-528)cTg>cCg		RAB35, member RAS oncogene family							202.0	199.0	200.0					12																	120535128		2073	4213	6286	SO:0001583	missense	11021				cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding	g.chr12:120535128A>G	X79781	CCDS41846.1, CCDS53836.1	12q24	2008-07-28			ENSG00000111737	ENSG00000111737		"""RAB, member RAS oncogene"""	9774	protein-coding gene	gene with protein product		604199					Standard	NM_001167606		Approved	H-ray	uc009zww.2	Q15286	OTTHUMG00000169159	ENST00000229340.5:c.527T>C	12.37:g.120535128A>G	ENSP00000229340:p.Leu176Pro					RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000432953.2_5'UTR|RAB35_ENST00000534951.1_Silent_p.P134P	p.L176P	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.248)	6	715	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		176					B2R6E0|B4E390	Missense_Mutation	SNP	ENST00000229340.5	37	c.527T>C	CCDS41846.1	.	.	.	.	.	.	.	.	.	.	A	13.45	2.241311	0.39598	.	.	ENSG00000111737	ENST00000229340;ENST00000538903	T;T	0.79554	-1.28;-1.28	5.07	5.07	0.68467	.	0.082617	0.48767	D	0.000163	T	0.62319	0.2418	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59332	-0.7474	9	0.02654	T	1	.	14.8353	0.70177	1.0:0.0:0.0:0.0	.	176	Q15286	RAB35_HUMAN	P	176;160	ENSP00000229340:L176P;ENSP00000443994:L160P	ENSP00000229340:L176P	L	-	2	0	RAB35	119019511	1.000000	0.71417	0.736000	0.30914	0.944000	0.59088	8.932000	0.92897	1.915000	0.55452	0.460000	0.39030	CTG		0.547	RAB35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402599.2			15	41	0	0	0	1	0	15	41				
PGBD3	267004	broad.mit.edu	37	10	50724174	50724174	+	Silent	SNP	C	C	T	rs565662180		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr10:50724174C>T	ENST00000374127.3	-	2	1188	c.987G>A	c.(985-987)gcG>gcA	p.A329A	PGBD3_ENST00000603152.1_Silent_p.A797A|PGBD3_ENST00000508005.2_Silent_p.A329A|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000515869.1_Silent_p.A797A|ERCC6-PGBD3_ENST00000447839.2_Silent_p.A797A	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	329										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						GGACAAGTGACGCACCGACAC	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		22023	0.0		0.0	False		,,,				2504	0.001					ENST00000515869.1																			0											c.(2389-2391)gcG>gcA									62.0	59.0	60.0					10																	50724174		2202	4299	6501	SO:0001819	synonymous_variant	101243544							g.chr10:50724174C>T	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.987G>A	10.37:g.50724174C>T						PGBD3_ENST00000374127.3_Silent_p.A329A|PGBD3_ENST00000508005.2_Silent_p.A329A|ERCC6-PGBD3_ENST00000447839.2_Silent_p.A797A|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000603152.1_Silent_p.A797A	p.A797A	NM_001277059.1	NP_001263988.1					6	2511	-								B3KQC4|Q5W0M0|Q6PIH0	Silent	SNP	ENST00000374127.3	37	c.2391G>A	CCDS7230.1																																																																																				0.433	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			36	65	0	0	0	1	0	36	65				
OR4N5	390437	broad.mit.edu	37	14	20612098	20612098	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr14:20612098A>C	ENST00000333629.1	+	1	204	c.204A>C	c.(202-204)ttA>ttC	p.L68F	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ACTTGGCCTTACTGGATGCAT	0.478																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(202-204)ttA>ttC		olfactory receptor, family 4, subfamily N, member 5							180.0	184.0	182.0					14																	20612098		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612098A>C		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.204A>C	14.37:g.20612098A>C	ENSP00000332110:p.Leu68Phe						p.L68F	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	204	+	all_cancers(95;0.00108)		68					Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.204A>C	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	A	0.050	-1.253324	0.01457	.	.	ENSG00000184394	ENST00000333629	T	0.00363	7.82	3.99	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	0.149997	0.31301	N	0.007900	T	0.00109	0.0003	N	0.02345	-0.59	0.22629	N	0.998917	B	0.02656	0.0	B	0.01281	0.0	T	0.38866	-0.9641	10	0.02654	T	1	.	5.0783	0.14644	0.1664:0.6442:0.0:0.1894	.	68	Q8IXE1	OR4N5_HUMAN	F	68	ENSP00000332110:L68F	ENSP00000332110:L68F	L	+	3	2	OR4N5	19681938	0.000000	0.05858	0.998000	0.56505	0.792000	0.44763	-1.488000	0.02308	0.119000	0.18210	-0.778000	0.03378	TTA		0.478	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			5	151	0	0	0	1	0	5	151				
WDR17	116966	broad.mit.edu	37	4	177071286	177071286	+	Nonsense_Mutation	SNP	C	C	T	rs371649006		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr4:177071286C>T	ENST00000280190.4	+	16	2368	c.2212C>T	c.(2212-2214)Caa>Taa	p.Q738*	WDR17_ENST00000508596.1_Nonsense_Mutation_p.Q714*|WDR17_ENST00000393643.2_Nonsense_Mutation_p.Q714*|WDR17_ENST00000507824.2_Nonsense_Mutation_p.Q721*			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	738										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TGCTAATTCTCAAGTGAAAAA	0.338																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(2140-2142)Caa>Taa		WD repeat domain 17		C	stop/GLN,stop/GLN	0,4404		0,0,2202	77.0	82.0	80.0		2212,2140	5.4	0.0	4		80	2,8592	2.2+/-6.3	0,2,4295	no	stop-gained,stop-gained	WDR17	NM_170710.4,NM_181265.3	,	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	,	738/1323,714/1284	177071286	2,12996	2202	4297	6499	SO:0001587	stop_gained	116966							g.chr4:177071286C>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2212C>T	4.37:g.177071286C>T	ENSP00000280190:p.Gln738*					WDR17_ENST00000508596.1_Nonsense_Mutation_p.Q714*|WDR17_ENST00000507824.2_Nonsense_Mutation_p.Q721*|WDR17_ENST00000280190.4_Nonsense_Mutation_p.Q738*	p.Q714*	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	15	2392	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	738					E7EQX0|Q0QD35	Nonsense_Mutation	SNP	ENST00000280190.4	37	c.2140C>T	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	C	36	5.851169	0.97023	0.0	2.33E-4	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.	.	.	5.41	5.41	0.78517	.	0.231211	0.32687	N	0.005764	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-2.6348	14.0824	0.64932	0.1506:0.8494:0.0:0.0	.	.	.	.	X	714;714;738;721	.	ENSP00000280190:Q738X	Q	+	1	0	WDR17	177308280	0.882000	0.30256	0.018000	0.16275	0.244000	0.25665	2.562000	0.45914	2.531000	0.85337	0.557000	0.71058	CAA		0.338	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			30	66	0	0	0	1	0	30	66				
MT-CO3	4514	broad.mit.edu	37	M	9770	9770	+	Silent	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chrM:9770T>C	ENST00000362079.2	+	1	564	c.564T>C	c.(562-564)atT>atC	p.I188I	MT-ND4L_ENST00000361335.1_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA			P00414	COX3_HUMAN	mitochondrially encoded cytochrome c oxidase III	188					aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						CCCTTCACCATTTCCGACGGC	0.448																																						ENST00000362079.2																			0				breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						c.(562-564)atT>atC		mitochondrially encoded cytochrome c oxidase III																																				SO:0001819	synonymous_variant	4514							g.chrM:9770T>C			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938		"""Mitochondrial respiratory chain complex / Complex IV"""	7422	protein-coding gene	gene with protein product		516050	"""cytochrome c oxidase III"""	MTCO3			Standard			Approved	COX3, COIII, CO3		P00414		ENST00000362079.2:c.564T>C	M.37:g.9770T>C							p.188_188insI							1	564	+								Q14Y83	Missense_Mutation	SNP	ENST00000362079.2	37	c.564T>C																																																																																					0.448	MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024032		14	6	0	0	0	1	0	14	6				
DEFB110	245913	broad.mit.edu	37	6	49986803	49986803	+	Silent	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr6:49986803A>G	ENST00000371148.2	-	2	136	c.91T>C	c.(91-93)Ttg>Ctg	p.L31L	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	31					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					TCTCTCCTCAAGTCCAAGCTA	0.373																																						ENST00000371148.2																			0				endometrium(1)|lung(1)|ovary(1)	3						c.(91-93)Ttg>Ctg		defensin, beta 110 locus							165.0	153.0	157.0					6																	49986803		2203	4300	6503	SO:0001819	synonymous_variant	245913				defense response to bacterium	extracellular region		g.chr6:49986803A>G	DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"""Defensins, beta"""	18091	protein-coding gene	gene with protein product			"""defensin, beta 110"""			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000371148.2:c.91T>C	6.37:g.49986803A>G						DEFB110_ENST00000393660.2_Intron	p.L31L	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN			2	136	-	Lung NSC(77;0.042)		31					Q30KR0	Silent	SNP	ENST00000371148.2	37	c.91T>C	CCDS34475.1																																																																																				0.373	DEFB110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359664.1	NM_001037728		27	65	0	0	0	1	0	27	65				
GABRQ	55879	broad.mit.edu	37	X	151821393	151821393	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chrX:151821393G>A	ENST00000370306.2	+	9	1568	c.1548G>A	c.(1546-1548)ggG>ggA	p.G516G		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	516					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCCCCAGTGGGAAGCCCATGC	0.552																																						ENST00000370306.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52						c.(1546-1548)ggG>ggA		gamma-aminobutyric acid (GABA) A receptor, theta							81.0	68.0	73.0					X																	151821393		2203	4300	6503	SO:0001819	synonymous_variant	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151821393G>A	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1548G>A	X.37:g.151821393G>A							p.G516G	NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN			9	1568	+	Acute lymphoblastic leukemia(192;6.56e-05)		516					A6NFN1|Q32MB4|Q9NZK8	Silent	SNP	ENST00000370306.2	37	c.1548G>A	CCDS14707.1																																																																																				0.552	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		27	11	0	0	0	1	0	27	11				
ZNF780A	284323	broad.mit.edu	37	19	40581235	40581235	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr19:40581235G>C	ENST00000595687.2	-	6	1323	c.1114C>G	c.(1114-1116)Ctt>Gtt	p.L372V	ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.L372V|ZNF780A_ENST00000594395.1_Missense_Mutation_p.L373V|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.L373V|ZNF780A_ENST00000450241.2_Missense_Mutation_p.L338V	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGGTTGAGAAGACTAAAGGCC	0.423																																						ENST00000450241.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1012-1014)Ctt>Gtt		zinc finger protein 780A							105.0	107.0	107.0					19																	40581235		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581235G>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1114C>G	19.37:g.40581235G>C	ENSP00000472189:p.Leu372Val					ZNF780A_ENST00000340963.5_Missense_Mutation_p.L372V|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Missense_Mutation_p.L372V|ZNF780A_ENST00000455521.1_Missense_Mutation_p.L373V|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.L373V	p.L338V			O75290	Z780A_HUMAN			6	1323	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		372					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1012C>G	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	G	2.475	-0.320970	0.05386	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.35605	1.3;1.3	1.62	0.257	0.15574	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33381	0.0861	N	0.20304	0.555	0.09310	N	1	P;D	0.69078	0.956;0.997	P;D	0.78314	0.899;0.991	T	0.21518	-1.0243	9	0.16420	T	0.52	.	2.7348	0.05237	0.2132:0.313:0.4738:0.0	.	373;372	E9PB48;O75290	.;Z780A_HUMAN	V	372;373;372	ENSP00000400997:L373V;ENSP00000341507:L372V	ENSP00000341507:L372V	L	-	1	0	ZNF780A	45273075	0.000000	0.05858	0.002000	0.10522	0.094000	0.18550	-4.268000	0.00263	-0.069000	0.12931	0.313000	0.20887	CTT		0.423	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		66	94	0	0	0	1	0	66	94				
MKRN1	23608	broad.mit.edu	37	7	140154946	140154946	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:140154946G>A	ENST00000255977.2	-	7	1409	c.1185C>T	c.(1183-1185)ggC>ggT	p.G395G	MKRN1_ENST00000474576.1_Silent_p.G331G|MKRN1_ENST00000437223.2_Silent_p.G129G	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	395				GR -> AG (in Ref. 1; AAF17487). {ECO:0000305}.	protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CCTCTCTACGGCCATCAGGGT	0.473																																						ENST00000255977.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(1183-1185)ggC>ggT		makorin ring finger protein 1							133.0	131.0	131.0					7																	140154946		2203	4300	6503	SO:0001819	synonymous_variant	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140154946G>A	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.1185C>T	7.37:g.140154946G>A						MKRN1_ENST00000437223.2_Silent_p.G129G|MKRN1_ENST00000474576.1_Silent_p.G331G	p.G395G	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN			7	1409	-	Melanoma(164;0.00956)		395	GR -> AG (in Ref. 1; AAF17487).				A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Silent	SNP	ENST00000255977.2	37	c.1185C>T	CCDS5860.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416062	0.42817	.	.	ENSG00000133606	ENST00000463142	.	.	.	5.0	4.09	0.47781	.	.	.	.	.	T	0.72011	0.3408	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74805	-0.3540	5	0.62326	D	0.03	.	12.5507	0.56225	0.0833:0.0:0.9167:0.0	.	.	.	.	V	48	.	ENSP00000417346:A48V	A	-	2	0	MKRN1	139801415	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.165000	0.31822	1.262000	0.44165	0.650000	0.86243	GCC		0.473	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		63	60	0	0	0	1	0	63	60				
YIPF4	84272	broad.mit.edu	37	2	32517253	32517253	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:32517253T>A	ENST00000238831.4	+	3	487	c.241T>A	c.(241-243)Ttg>Atg	p.L81M		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	81						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					taGGGAAGAATTGGACATTGA	0.294																																						ENST00000238831.3																			0				kidney(2)|lung(3)|prostate(3)|skin(1)	9						c.(241-243)Ttg>Atg		Yip1 domain family, member 4							62.0	61.0	61.0					2																	32517253		2202	4300	6502	SO:0001583	missense	84272					endoplasmic reticulum|integral to membrane	protein binding	g.chr2:32517253T>A	AK098486	CCDS1781.1	2p22.3	2008-02-05			ENSG00000119820	ENSG00000119820		"""Yip1 domain family"""	28145	protein-coding gene	gene with protein product						12477932	Standard	NM_032312		Approved	MGC11061, FinGER4	uc002rok.3	Q9BSR8	OTTHUMG00000128452	ENST00000238831.4:c.241T>A	2.37:g.32517253T>A	ENSP00000238831:p.Leu81Met						p.L81M	NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN			3	487	+	Acute lymphoblastic leukemia(172;0.155)		81						Missense_Mutation	SNP	ENST00000238831.4	37	c.241T>A	CCDS1781.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.981421	0.74474	.	.	ENSG00000119820	ENST00000238831	T	0.63913	-0.07	5.65	3.29	0.37713	.	0.067867	0.64402	D	0.000009	T	0.76485	0.3994	M	0.83953	2.67	0.54753	D	0.999988	D	0.69078	0.997	D	0.81914	0.995	T	0.77122	-0.2704	10	0.87932	D	0	.	7.283	0.26322	0.0:0.2963:0.0:0.7037	.	81	Q9BSR8	YIPF4_HUMAN	M	81	ENSP00000238831:L81M	ENSP00000238831:L81M	L	+	1	2	YIPF4	32370757	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.901000	0.39838	1.081000	0.41110	0.528000	0.53228	TTG		0.294	YIPF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250250.3	NM_032312		24	33	0	0	0	1	0	24	33				
ZNF133	7692	broad.mit.edu	37	20	18297457	18297457	+	Silent	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr20:18297457C>T	ENST00000316358.4	+	4	2059	c.1962C>T	c.(1960-1962)ctC>ctT	p.L654L	RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000538547.1_Silent_p.L559L|ZNF133_ENST00000401790.1_Silent_p.L654L|ZNF133_ENST00000396026.3_Silent_p.L657L|ZNF133_ENST00000535822.1_Silent_p.L559L|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000402618.2_Silent_p.L591L|ZNF133_ENST00000377671.3_Silent_p.L653L	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	654					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						TATACTCTCTCTGAAGGCAAA	0.493																																						ENST00000377671.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1957-1959)ctC>ctT		zinc finger protein 133							40.0	41.0	41.0					20																	18297457		2201	4300	6501	SO:0001819	synonymous_variant	7692					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:18297457C>T	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.1962C>T	20.37:g.18297457C>T						ZNF133_ENST00000401790.1_Silent_p.L654L|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000535822.1_Silent_p.L559L|ZNF133_ENST00000396026.3_Silent_p.L657L|ZNF133_ENST00000316358.4_Silent_p.L654L|ZNF133_ENST00000538547.1_Silent_p.L559L|ZNF133_ENST00000402618.2_Silent_p.L591L	p.L653L	NM_001083330.1|NM_003434.4	NP_001076799.1|NP_003425.2	P52736	ZN133_HUMAN			7	2518	+			654					A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Silent	SNP	ENST00000316358.4	37	c.1959C>T																																																																																					0.493	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		4	45	0	0	0	1	0	4	45				
TUBB8P7	197331	broad.mit.edu	37	16	90162579	90162579	+	RNA	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr16:90162579C>T	ENST00000564451.1	+	0	1932				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		AGGAGTATGCCGAGGAGGAGG	0.512																																						ENST00000567960.1																			0																																																			197331							g.chr16:90162579C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162579C>T						TUBB8P7_ENST00000564451.1_RNA								0	1315	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.512	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	168	0	0	0	1	0	5	168				
TRAPPC8	22878	broad.mit.edu	37	18	29410790	29410790	+	Silent	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr18:29410790C>T	ENST00000283351.4	-	29	4571	c.4236G>A	c.(4234-4236)tcG>tcA	p.S1412S	TRAPPC8_ENST00000582539.1_Silent_p.S1358S	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1412					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TAACTTGGTCCGATAACTTGG	0.413																																						ENST00000283351.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(4234-4236)tcG>tcA		trafficking protein particle complex 8							105.0	87.0	93.0					18																	29410790		2203	4300	6503	SO:0001819	synonymous_variant	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29410790C>T	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.4236G>A	18.37:g.29410790C>T						TRAPPC8_ENST00000582539.1_Silent_p.S1358S	p.S1412S	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN			29	4571	-			1412					A0JP15|B3KME5|Q9H0L2	Silent	SNP	ENST00000283351.4	37	c.4236G>A	CCDS11901.1																																																																																				0.413	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		34	59	0	0	0	1	0	34	59				
SHC4	399694	broad.mit.edu	37	15	49170407	49170407	+	Intron	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr15:49170407G>C	ENST00000332408.4	-	4	1269				EID1_ENST00000530028.2_Missense_Mutation_p.E12Q|EID1_ENST00000560490.1_Missense_Mutation_p.E12Q|EID1_ENST00000558295.1_3'UTR|SHC4_ENST00000396535.3_5'Flank|SHC4_ENST00000537958.1_5'Flank	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CGAGCTGTATGAAGAGAGCAG	0.587																																						ENST00000530028.2																			0				liver(1)|prostate(1)	2						c.(34-36)Gaa>Caa		EP300 interacting inhibitor of differentiation 1							114.0	118.0	117.0					15																	49170407		2119	4242	6361	SO:0001627	intron_variant	23741				cell cycle|cell differentiation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyltransferase binding|histone acetyltransferase regulator activity|transcription corepressor activity	g.chr15:49170407G>C	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.840+6037C>G	15.37:g.49170407G>C						EID1_ENST00000560490.1_Missense_Mutation_p.E12Q|EID1_ENST00000558295.1_3'UTR|SHC4_ENST00000332408.4_Intron	p.E12Q	NM_014335.2	NP_055150.1	Q9Y6B2	EID1_HUMAN		all cancers(107;2.73e-08)|GBM - Glioblastoma multiforme(94;9.58e-07)	1	325	+		all_lung(180;0.00455)	12					Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	c.34G>C	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	G	8.331	0.826445	0.16749	.	.	ENSG00000255302	ENST00000530028	T	0.39997	1.05	4.1	3.15	0.36227	.	.	.	.	.	T	0.52419	0.1733	L	0.44542	1.39	0.22819	N	0.998696	D	0.76494	0.999	D	0.80764	0.994	T	0.30446	-0.9978	9	0.44086	T	0.13	.	9.1104	0.36723	0.0:0.0:0.7823:0.2177	.	12	Q9Y6B2	EID1_HUMAN	Q	12	ENSP00000431162:E12Q	ENSP00000431162:E12Q	E	+	1	0	EID1	46957699	0.996000	0.38824	0.505000	0.27651	0.013000	0.08279	2.302000	0.43637	1.268000	0.44264	0.650000	0.86243	GAA		0.587	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		6	135	0	0	0	1	0	6	135				
C5	727	broad.mit.edu	37	9	123782264	123782264	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr9:123782264T>C	ENST00000223642.1	-	12	1525	c.1496A>G	c.(1495-1497)tAt>tGt	p.Y499C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	499					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	CAAGTAATTATAGTGAGTTAT	0.348																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1495-1497)tAt>tGt		complement component 5	Eculizumab(DB01257)						78.0	80.0	79.0					9																	123782264		2203	4300	6503	SO:0001583	missense	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123782264T>C	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.1496A>G	9.37:g.123782264T>C	ENSP00000223642:p.Tyr499Cys						p.Y499C	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	12	1525	-			499					Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	c.1496A>G	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.742452	0.69418	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.63255	-0.03	6.07	6.07	0.98685	Alpha-2-macroglobulin, N-terminal 2 (1);	0.234644	0.44688	D	0.000426	T	0.80602	0.4654	M	0.82923	2.615	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.83394	0.0019	10	0.87932	D	0	.	14.3816	0.66914	0.0:0.0:0.0:1.0	.	570;499	Q59GS8;P01031	.;CO5_HUMAN	C	499;570	ENSP00000223642:Y499C	ENSP00000223642:Y499C	Y	-	2	0	C5	122822085	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.320000	0.51991	2.326000	0.78906	0.533000	0.62120	TAT		0.348	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		20	27	0	0	0	1	0	20	27				
STT3B	201595	broad.mit.edu	37	3	31658513	31658513	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr3:31658513G>A	ENST00000295770.2	+	7	1278	c.1069G>A	c.(1069-1071)Gta>Ata	p.V357I	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	357					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						CTTTTTGGGTGTATCACTAGC	0.393																																						ENST00000295770.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						c.(1069-1071)Gta>Ata		STT3B, subunit of the oligosaccharyltransferase complex (catalytic)							213.0	213.0	213.0					3																	31658513		2203	4300	6503	SO:0001583	missense	201595				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:31658513G>A	AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.1069G>A	3.37:g.31658513G>A	ENSP00000295770:p.Val357Ile					STT3B_ENST00000453168.1_3'UTR	p.V357I	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN			7	1278	+			357					Q96JZ4|Q96KY7	Missense_Mutation	SNP	ENST00000295770.2	37	c.1069G>A	CCDS2650.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614293	0.46631	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.40694	0.1127	N	0.21324	0.655	0.58432	D	0.999998	B	0.20368	0.044	B	0.22152	0.038	T	0.24799	-1.0150	9	0.08381	T	0.77	-13.398	13.0976	0.59202	0.0771:0.0:0.9229:0.0	.	357	Q8TCJ2	STT3B_HUMAN	I	357	.	ENSP00000295770:V357I	V	+	1	0	STT3B	31633517	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	6.783000	0.75078	2.438000	0.82558	0.561000	0.74099	GTA		0.393	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862		77	53	0	0	0	1	0	77	53				
UNC5C	8633	broad.mit.edu	37	4	96127854	96127854	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr4:96127854C>A	ENST00000453304.1	-	11	2175	c.1827G>T	c.(1825-1827)atG>atT	p.M609I		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	609	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CGCAGTGATGCATAGTGAGGA	0.582																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1825-1827)atG>atT		unc-5 homolog C (C. elegans)							89.0	80.0	83.0					4																	96127854		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96127854C>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1827G>T	4.37:g.96127854C>A	ENSP00000406022:p.Met609Ile						p.M609I	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	11	2175	-		Hepatocellular(203;0.114)	609			ZU5.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.1827G>T	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	4.024	0.001981	0.07819	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796	T;T	0.38240	1.15;1.15	5.28	3.51	0.40186	ZU5 (3);	0.256423	0.45361	D	0.000362	T	0.17662	0.0424	N	0.12422	0.21	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.002	T	0.07028	-1.0794	10	0.07030	T	0.85	.	10.5848	0.45275	0.0:0.7938:0.134:0.0721	.	609;609	A8K385;O95185	.;UNC5C_HUMAN	I	609;568;628	ENSP00000406022:M609I;ENSP00000426924:M628I	ENSP00000328673:M568I	M	-	3	0	UNC5C	96346877	1.000000	0.71417	0.966000	0.40874	0.312000	0.27988	0.868000	0.27982	0.680000	0.31366	0.563000	0.77884	ATG		0.582	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		33	71	1	0	6.84511e-11	1	7.1728e-11	33	71				
LAMB4	22798	broad.mit.edu	37	7	107698328	107698328	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:107698328A>G	ENST00000388781.3	-	24	3411	c.3328T>C	c.(3328-3330)Tgc>Cgc	p.C1110R	LAMB4_ENST00000205386.4_Missense_Mutation_p.C1110R|LAMB4_ENST00000388780.3_Missense_Mutation_p.C1110R	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1110	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CACTCACTGCAACGTTTCCCG	0.443																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(3328-3330)Tgc>Cgc		laminin, beta 4							89.0	77.0	81.0					7																	107698328		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107698328A>G	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3328T>C	7.37:g.107698328A>G	ENSP00000373433:p.Cys1110Arg					LAMB4_ENST00000205386.4_Missense_Mutation_p.C1110R|LAMB4_ENST00000388780.3_Missense_Mutation_p.C1110R	p.C1110R	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			24	3411	-			1110			Laminin EGF-like 12.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.3328T>C	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.317081	0.60524	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4	4.9	3.72	0.42706	EGF-like, laminin (4);EGF-like region, conserved site (1);	0.000000	0.56097	D	0.000029	D	0.97648	0.9229	H	0.97465	4.01	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.966	D	0.97420	1.0008	10	0.87932	D	0	.	10.9108	0.47108	0.8593:0.0:0.0:0.1407	.	1110;1110	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	R	1110;1110;136;1110	ENSP00000205386:C1110R;ENSP00000373433:C1110R;ENSP00000416562:C136R;ENSP00000373432:C1110R	ENSP00000205386:C1110R	C	-	1	0	LAMB4	107485564	0.998000	0.40836	0.034000	0.17996	0.930000	0.56654	6.783000	0.75078	0.863000	0.35553	0.455000	0.32223	TGC		0.443	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		7	62	0	0	0	1	0	7	62				
VPS26A	9559	broad.mit.edu	37	10	70928349	70928349	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr10:70928349C>G	ENST00000373382.1	+	9	1485	c.832C>G	c.(832-834)Ctt>Gtt	p.L278V	VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000395098.1_Intron|VPS26A_ENST00000489794.1_Intron|VPS26A_ENST00000546041.1_Missense_Mutation_p.L261V|VPS26A_ENST00000541711.1_Missense_Mutation_p.L167V|VPS26A_ENST00000263559.6_Missense_Mutation_p.L278V			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	278					retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|vesicle (GO:0031982)	protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GAATTTAGTGCTTGTTGATGA	0.398																																					Colon(90;545 1358 4729 6702 16773)	ENST00000373382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						c.(832-834)Ctt>Gtt		vacuolar protein sorting 26 homolog A (S. pombe)							92.0	95.0	94.0					10																	70928349		2203	4300	6503	SO:0001583	missense	9559				retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity	g.chr10:70928349C>G	AF054179	CCDS7286.1, CCDS41536.1	10q21.1	2007-01-12	2007-01-12	2005-10-11	ENSG00000122958	ENSG00000122958			12711	protein-coding gene	gene with protein product		605506	"""vacuolar protein sorting 26 (yeast homolog)"", ""vacuolar protein sorting 26 (yeast)"", ""vacuolar protein sorting 26 homolog A (yeast)"""	VPS26		1638986, 9653160	Standard	NM_004896		Approved	Hbeta58, PEP8A	uc001jpb.3	O75436	OTTHUMG00000018376	ENST00000373382.1:c.832C>G	10.37:g.70928349C>G	ENSP00000362480:p.Leu278Val					VPS26A_ENST00000546041.1_Missense_Mutation_p.L261V|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000541711.1_Missense_Mutation_p.L167V|VPS26A_ENST00000395098.1_Intron|VPS26A_ENST00000489794.1_Intron|VPS26A_ENST00000263559.6_Missense_Mutation_p.L278V	p.L278V			O75436	VP26A_HUMAN			9	1485	+			278					A8MZ56|B2RDD3|Q8TBH4|Q9H982	Missense_Mutation	SNP	ENST00000373382.1	37	c.832C>G	CCDS7286.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426364	0.83667	.	.	ENSG00000122958	ENST00000373382;ENST00000263559;ENST00000546041;ENST00000541711	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.80363	0.4609	M	0.90814	3.15	0.80722	D	1	P;D	0.57899	0.803;0.981	D;D	0.65684	0.918;0.937	T	0.81918	-0.0713	9	0.40728	T	0.16	-16.6327	12.8773	0.57998	0.0:0.9211:0.0:0.0789	.	261;278	F5H4L7;O75436	.;VP26A_HUMAN	V	278;278;261;167	.	ENSP00000263559:L278V	L	+	1	0	VPS26A	70598355	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.040000	0.70980	2.448000	0.82819	0.557000	0.71058	CTT		0.398	VPS26A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048403.1	NM_004896		15	60	0	0	0	1	0	15	60				
LMTK2	22853	broad.mit.edu	37	7	97823045	97823045	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:97823045G>C	ENST00000297293.5	+	11	3561	c.3268G>C	c.(3268-3270)Gag>Cag	p.E1090Q		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1090					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGTGACCCCTGAGACGTTCAC	0.602																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(3268-3270)Gag>Cag		lemur tyrosine kinase 2							46.0	42.0	43.0					7																	97823045		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97823045G>C	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3268G>C	7.37:g.97823045G>C	ENSP00000297293:p.Glu1090Gln						p.E1090Q	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	3561	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		1090					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.3268G>C	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.680298	0.00751	.	.	ENSG00000164715	ENST00000297293	T	0.78126	-1.15	5.37	3.3	0.37823	.	0.614700	0.17961	N	0.156188	T	0.45597	0.1350	N	0.01146	-0.985	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.31558	-0.9939	10	0.08381	T	0.77	.	9.6455	0.39865	0.1748:0.5841:0.2411:0.0	.	1090	Q8IWU2	LMTK2_HUMAN	Q	1090	ENSP00000297293:E1090Q	ENSP00000297293:E1090Q	E	+	1	0	LMTK2	97660981	0.280000	0.24249	0.811000	0.32455	0.059000	0.15707	0.729000	0.26028	1.413000	0.46997	-0.134000	0.14843	GAG		0.602	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		29	70	0	0	0	1	0	29	70				
CELA2A	63036	broad.mit.edu	37	1	15783637	15783637	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:15783637G>C	ENST00000359621.4	+	2	122	c.97G>C	c.(97-99)Gaa>Caa	p.E33Q	CELA2A_ENST00000497590.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	33	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						GGTTGGCGGTGAAGAAGCGAG	0.582																																						ENST00000359621.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						c.(97-99)Gaa>Caa		chymotrypsin-like elastase family, member 2A							107.0	99.0	102.0					1																	15783637		2203	4300	6503	SO:0001583	missense	63036				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15783637G>C		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.97G>C	1.37:g.15783637G>C	ENSP00000352639:p.Glu33Gln					CELA2A_ENST00000497590.1_3'UTR	p.E33Q	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN			2	122	+			33			Peptidase S1.		B2R5I4|Q14243	Missense_Mutation	SNP	ENST00000359621.4	37	c.97G>C	CCDS157.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.137387	0.37728	.	.	ENSG00000142615	ENST00000375924;ENST00000359621	D	0.88818	-2.43	4.28	3.36	0.38483	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.121545	0.34110	N	0.004251	T	0.81654	0.4868	N	0.21282	0.65	0.30573	N	0.763305	B	0.22683	0.073	B	0.28465	0.09	T	0.78671	-0.2113	10	0.52906	T	0.07	.	10.9408	0.47273	0.0:0.4831:0.5169:0.0	.	33	P08217	CEL2A_HUMAN	Q	33	ENSP00000352639:E33Q	ENSP00000352639:E33Q	E	+	1	0	CELA2A	15656224	0.994000	0.37717	0.964000	0.40570	0.958000	0.62258	1.651000	0.37302	1.140000	0.42260	0.650000	0.86243	GAA		0.582	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		21	45	0	0	0	1	0	21	45				
POLE	5426	broad.mit.edu	37	12	133235883	133235883	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr12:133235883C>G	ENST00000320574.5	-	26	3316	c.3273G>C	c.(3271-3273)gaG>gaC	p.E1091D	POLE_ENST00000535270.1_Missense_Mutation_p.E1064D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1091					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GCCCTCACCTCTCCGTGACAG	0.657								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(3271-3273)gaG>gaC	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							37.0	35.0	36.0					12																	133235883		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133235883C>G		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3273G>C	12.37:g.133235883C>G	ENSP00000322570:p.Glu1091Asp					POLE_ENST00000535270.1_Missense_Mutation_p.E1064D	p.E1091D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	26	3316	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1091					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.3273G>C	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110378	0.56398	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000536445;ENST00000376577	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	5.84	4.95	0.65309	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.28632	0.0709	L	0.49455	1.56	0.58432	D	0.999999	P;P	0.45011	0.848;0.769	P;P	0.51324	0.536;0.666	T	0.01814	-1.1268	10	0.66056	D	0.02	.	14.9568	0.71120	0.0:0.9318:0.0:0.0682	.	1064;1091	F5H1D6;Q07864	.;DPOE1_HUMAN	D	1091;1102;1064;871;68;1026	ENSP00000322570:E1091D;ENSP00000406383:E1102D;ENSP00000445753:E1064D;ENSP00000442519:E871D	ENSP00000322570:E1091D	E	-	3	2	POLE	131745956	1.000000	0.71417	0.999000	0.59377	0.513000	0.34164	3.116000	0.50399	1.491000	0.48482	0.644000	0.83932	GAG		0.657	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		9	19	0	0	0	1	0	9	19				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	70	0	0	0	1	0	5	70				
PIP5K1B	8395	broad.mit.edu	37	9	71606093	71606093	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr9:71606093G>A	ENST00000265382.3	+	15	1845	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K	PIP5K1B_ENST00000541509.1_Intron	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	514					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TACCTTGGAAGAGGGGACCAT	0.433																																						ENST00000265382.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.(1540-1542)Gag>Aag		phosphatidylinositol-4-phosphate 5-kinase, type I, beta							139.0	126.0	131.0					9																	71606093		2203	4300	6503	SO:0001583	missense	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71606093G>A	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.1540G>A	9.37:g.71606093G>A	ENSP00000265382:p.Glu514Lys					PIP5K1B_ENST00000541509.1_Intron	p.514_514insK	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN		Lung(182;0.133)	15	1845	+			0					A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	ENST00000265382.3	37	c.1540G>A	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019854	0.75275	.	.	ENSG00000107242	ENST00000377290;ENST00000265382	T	0.27402	1.67	6.17	6.17	0.99709	.	.	.	.	.	T	0.17831	0.0428	N	0.08118	0	0.35308	D	0.783626	B	0.10296	0.003	B	0.06405	0.002	T	0.17289	-1.0374	9	0.10902	T	0.67	.	17.7962	0.88572	0.0:0.0:1.0:0.0	.	514	O14986	PI51B_HUMAN	K	514	ENSP00000265382:E514K	ENSP00000265382:E514K	E	+	1	0	PIP5K1B	70795913	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.085000	0.71343	2.941000	0.99782	0.655000	0.94253	GAG		0.433	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		25	58	0	0	0	1	0	25	58				
PCLO	27445	broad.mit.edu	37	7	82785327	82785327	+	Silent	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:82785327A>G	ENST00000333891.9	-	2	967	c.630T>C	c.(628-630)ccT>ccC	p.P210P	PCLO_ENST00000423517.2_Silent_p.P210P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTGTTGTAAAGGAGGTTTTA	0.458																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(628-630)ccT>ccC		piccolo presynaptic cytomatrix protein							126.0	120.0	122.0					7																	82785327		1907	4107	6014	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82785327A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.630T>C	7.37:g.82785327A>G						PCLO_ENST00000333891.8_Silent_p.P210P	p.P210P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			2	967	-			210			Gln-rich.|Pro-rich.			Silent	SNP	ENST00000333891.9	37	c.630T>C	CCDS47630.1																																																																																				0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		10	33	0	0	0	1	0	10	33				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			80862							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		5	87	0	0	0	1	0	5	87				
FOCAD	54914	broad.mit.edu	37	9	20978364	20978364	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr9:20978364G>C	ENST00000380249.1	+	39	4652	c.4288G>C	c.(4288-4290)Gaa>Caa	p.E1430Q	FOCAD_ENST00000605086.1_Missense_Mutation_p.E866Q|FOCAD_ENST00000338382.6_Missense_Mutation_p.E1430Q	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1430				E -> D (in Ref. 6; AAH01246). {ECO:0000305}.		focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											ACTGTGCCTTGAAATTATGGT	0.423																																						ENST00000380249.1																			0											c.(4288-4290)Gaa>Caa		focadhesin							72.0	65.0	67.0					9																	20978364		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20978364G>C	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4288G>C	9.37:g.20978364G>C	ENSP00000369599:p.Glu1430Gln					FOCAD_ENST00000338382.6_Missense_Mutation_p.E1430Q|FOCAD_ENST00000605086.1_Missense_Mutation_p.E866Q	p.E1430Q	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			39	4652	+			1430	E -> D (in Ref. 6; AAH01246).				D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.4288G>C	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208396	0.39003	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.25250	1.81;1.81	6.06	4.1	0.47936	.	0.478858	0.23969	N	0.042790	T	0.17704	0.0425	L	0.32530	0.975	0.34374	D	0.692372	P	0.35192	0.489	B	0.34138	0.176	T	0.25152	-1.0140	10	0.24483	T	0.36	-20.5133	9.3844	0.38333	0.0718:0.2753:0.6529:0.0	.	1430	Q5VW36	K1797_HUMAN	Q	1430	ENSP00000369599:E1430Q;ENSP00000344307:E1430Q	ENSP00000344307:E1430Q	E	+	1	0	KIAA1797	20968364	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.980000	0.40618	1.553000	0.49476	0.655000	0.94253	GAA		0.423	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		11	10	0	0	0	1	0	11	10				
ANKS3	124401	broad.mit.edu	37	16	4750894	4750894	+	Intron	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr16:4750894T>C	ENST00000304283.4	-	11	1579				ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000450067.2_Missense_Mutation_p.Y248C|ANKS3_ENST00000446014.2_Intron	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3											endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TGGCACGTCATATACACAACA	0.587																																						ENST00000450067.2																			0				endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.(742-744)tAt>tGt		ankyrin repeat and sterile alpha motif domain containing 3																																				SO:0001627	intron_variant	124401							g.chr16:4750894T>C	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1284+76A>G	16.37:g.4750894T>C						ANKS3_ENST00000446014.2_Intron|ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000304283.4_Intron	p.Y248C			Q6ZW76	ANKS3_HUMAN			7	1053	-			0					B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.743A>G	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	T	0.726	-0.781606	0.02929	.	.	ENSG00000168096	ENST00000450067	T	0.52983	0.64	2.6	-5.19	0.02832	.	.	.	.	.	T	0.31765	0.0807	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29941	-0.9995	8	0.87932	D	0	.	1.7362	0.02942	0.3127:0.3418:0.2101:0.1355	.	248	Q6ZWA7	.	C	248	ENSP00000388270:Y248C	ENSP00000388270:Y248C	Y	-	2	0	ANKS3	4690895	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.354000	0.00500	-5.348000	0.00016	-2.003000	0.00443	TAT		0.587	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		75	139	0	0	0	1	0	75	139				
SAMD3	154075	broad.mit.edu	37	6	130467229	130467229	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr6:130467229G>A	ENST00000368134.2	-	12	1729	c.1121C>T	c.(1120-1122)tCa>tTa	p.S374L	SAMD3_ENST00000437477.2_Missense_Mutation_p.S374L|SAMD3_ENST00000457563.2_Missense_Mutation_p.S398L|SAMD3_ENST00000439090.2_Missense_Mutation_p.S374L|RP11-73O6.3_ENST00000609978.1_RNA	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	374										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GTCCACCACTGAAAAAGAAGT	0.323																																						ENST00000368134.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(1120-1122)tCa>tTa		sterile alpha motif domain containing 3							98.0	101.0	100.0					6																	130467229		2202	4293	6495	SO:0001583	missense	154075							g.chr6:130467229G>A	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.1121C>T	6.37:g.130467229G>A	ENSP00000357116:p.Ser374Leu					SAMD3_ENST00000439090.2_Missense_Mutation_p.S374L|SAMD3_ENST00000437477.2_Missense_Mutation_p.S374L|SAMD3_ENST00000457563.2_Missense_Mutation_p.S398L	p.S374L	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	12	1729	-			374					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.1121C>T	CCDS34539.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.755|5.755	0.323754|0.323754	0.10900|0.10900	.|.	.|.	ENSG00000164483|ENSG00000164483	ENST00000463253|ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477	.|T;T;T;T	.|0.44881	.|0.92;0.91;0.92;0.92	5.54|5.54	3.66|3.66	0.41972|0.41972	.|.	.|0.404867	.|0.21665	.|N	.|0.070959	.|T	.|0.11367	.|0.0277	L|L	0.31664|0.31664	0.95|0.95	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	.|T	.|0.08848	.|-1.0702	.|10	.|0.23891	.|T	.|0.37	.|.	4.6515|4.6515	0.12598|0.12598	0.2346:0.1755:0.5899:0.0|0.2346:0.1755:0.5899:0.0	.|.	.|374	.|Q8N6K7	.|SAMD3_HUMAN	X|L	43|374;398;374;374	.|ENSP00000357116:S374L;ENSP00000402092:S398L;ENSP00000403565:S374L;ENSP00000391163:S374L	.|ENSP00000357116:S374L	Q|S	-|-	1|2	0|0	SAMD3|SAMD3	130508922|130508922	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	1.623000|1.623000	0.37008|0.37008	0.723000|0.723000	0.32274|0.32274	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.323	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		32	57	0	0	0	1	0	32	57				
MYBL2	4605	broad.mit.edu	37	20	42315638	42315638	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr20:42315638G>A	ENST00000217026.4	+	5	553	c.426G>A	c.(424-426)gaG>gaA	p.E142E	MYBL2_ENST00000396863.4_Silent_p.E118E	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	142	HTH myb-type 3. {ECO:0000255|PROSITE- ProRule:PRU00625}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCGAGGAGGAGGACCGCATCA	0.617																																						ENST00000217026.4																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46						c.(424-426)gaG>gaA		v-myb avian myeloblastosis viral oncogene homolog-like 2							52.0	44.0	47.0					20																	42315638		2203	4300	6503	SO:0001819	synonymous_variant	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42315638G>A		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.426G>A	20.37:g.42315638G>A						MYBL2_ENST00000396863.4_Silent_p.E118E	p.E142E	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		5	553	+		Myeloproliferative disorder(115;0.00452)	142			HTH myb-type 3.		B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	37	c.426G>A	CCDS13322.1																																																																																				0.617	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		21	34	0	0	0	1	0	21	34				
MTIF2	4528	broad.mit.edu	37	2	55471317	55471317	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:55471317G>A	ENST00000263629.4	-	11	1474	c.1159C>T	c.(1159-1161)Ctg>Ttg	p.L387L	MTIF2_ENST00000394600.3_Silent_p.L387L|MTIF2_ENST00000403721.1_Silent_p.L387L	NM_002453.2	NP_002444.2	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	387					formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CCAGCAACCAGAACAGAGCCT	0.343																																						ENST00000394600.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						c.(1159-1161)Ctg>Ttg		mitochondrial translational initiation factor 2							75.0	71.0	72.0					2																	55471317		2203	4300	6503	SO:0001819	synonymous_variant	4528				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	g.chr2:55471317G>A	L34600	CCDS1853.1	2p16.1	2008-02-05			ENSG00000085760	ENSG00000085760			7441	protein-coding gene	gene with protein product		603766				9925935, 7829522	Standard	XM_005264335		Approved	IF-2mt	uc002ryo.3	P46199	OTTHUMG00000129338	ENST00000263629.4:c.1159C>T	2.37:g.55471317G>A						MTIF2_ENST00000403721.1_Silent_p.L387L|MTIF2_ENST00000263629.4_Silent_p.L387L	p.L387L	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN			12	1895	-			387					D6W5D0	Silent	SNP	ENST00000263629.4	37	c.1159C>T	CCDS1853.1																																																																																				0.343	MTIF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251486.4	NM_002453		13	56	0	0	0	1	0	13	56				
KCNT1	57582	broad.mit.edu	37	9	138660749	138660749	+	Silent	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr9:138660749C>G	ENST00000263604.3	+	15	1419	c.1419C>G	c.(1417-1419)ctC>ctG	p.L473L	KCNT1_ENST00000298480.5_Silent_p.L492L|KCNT1_ENST00000371757.2_Silent_p.L492L|KCNT1_ENST00000487664.1_Silent_p.L447L|KCNT1_ENST00000490355.2_Silent_p.L473L|KCNT1_ENST00000486577.2_Silent_p.L453L|KCNT1_ENST00000491806.2_Silent_p.L459L|KCNT1_ENST00000488444.2_Silent_p.L473L			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	473					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCCAGATCCTCAAACCTGAAA	0.612																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1474-1476)ctC>ctG		potassium channel, subfamily T, member 1							119.0	104.0	109.0					9																	138660749		2201	4300	6501	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138660749C>G	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1419C>G	9.37:g.138660749C>G						KCNT1_ENST00000491806.2_Silent_p.L459L|KCNT1_ENST00000371757.2_Silent_p.L492L|KCNT1_ENST00000488444.2_Silent_p.L473L|KCNT1_ENST00000263604.3_Silent_p.L473L|KCNT1_ENST00000487664.1_Silent_p.L447L|KCNT1_ENST00000486577.2_Silent_p.L453L|KCNT1_ENST00000490355.2_Silent_p.L473L	p.L492L			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	15	1550	+		Myeloproliferative disorder(178;0.0821)	492					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.1476C>G																																																																																					0.612	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		17	16	0	0	0	1	0	17	16				
FLG	2312	broad.mit.edu	37	1	152283460	152283460	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:152283460T>A	ENST00000368799.1	-	3	3937	c.3902A>T	c.(3901-3903)cAg>cTg	p.Q1301L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1301	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)			atctcttgactgctcccgaga	0.542									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.(3901-3903)cAg>cTg		filaggrin							185.0	183.0	184.0					1																	152283460		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.chr1:152283460T>A	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.3902A>T	1.37:g.152283460T>A	ENSP00000357789:p.Gln1301Leu					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.Q1301L	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3937	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1301			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.3902A>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	7.264	0.605821	0.14002	.	.	ENSG00000143631	ENST00000368799	T	0.03468	3.92	3.13	-0.568	0.11760	.	.	.	.	.	T	0.01353	0.0044	M	0.73962	2.25	0.09310	N	1	B	0.28636	0.218	B	0.25759	0.063	T	0.44128	-0.9348	9	0.31617	T	0.26	.	2.0642	0.03599	0.2413:0.2867:0.0:0.472	.	1301	P20930	FILA_HUMAN	L	1301	ENSP00000357789:Q1301L	ENSP00000357789:Q1301L	Q	-	2	0	FLG	150550084	0.000000	0.05858	0.001000	0.08648	0.050000	0.14768	-0.967000	0.03821	0.016000	0.14998	0.249000	0.18162	CAG		0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		51	350	0	0	0	1	0	51	350				
SAFB	6294	broad.mit.edu	37	19	5641793	5641793	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr19:5641793A>G	ENST00000292123.5	+	4	489	c.382A>G	c.(382-384)Atc>Gtc	p.I128V	SAFB_ENST00000433404.1_5'UTR|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000592224.1_Missense_Mutation_p.I128V|SAFB_ENST00000454510.1_Intron|SAFB_ENST00000588852.1_Missense_Mutation_p.I128V|SAFB_ENST00000586934.1_3'UTR	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	128					chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GGACATCGACATCATGGATAT	0.498																																					Colon(88;338 1345 6184 8214 20897)	ENST00000292123.5																			0				breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23						c.(382-384)Atc>Gtc		scaffold attachment factor B							186.0	180.0	182.0					19																	5641793		2203	4300	6503	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5641793A>G	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.382A>G	19.37:g.5641793A>G	ENSP00000292123:p.Ile128Val					SAFB_ENST00000592224.1_Missense_Mutation_p.I128V|SAFB_ENST00000588852.1_Missense_Mutation_p.I128V|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000538656.1_Intron|SAFB_ENST00000454510.1_Intron|SAFB_ENST00000433404.1_5'UTR	p.I128V	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	4	489	+			128					A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.382A>G	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	A	9.316	1.056715	0.19907	.	.	ENSG00000160633	ENST00000292123	T	0.10005	2.92	5.75	5.75	0.90469	.	0.098532	0.49305	D	0.000147	T	0.08313	0.0207	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B	0.21688	0.059;0.0;0.059;0.059;0.059	B;B;B;B;B	0.20184	0.028;0.002;0.017;0.017;0.017	T	0.33471	-0.9867	10	0.22109	T	0.4	-18.3023	14.6248	0.68614	1.0:0.0:0.0:0.0	.	128;128;128;128;128	B7ZLP5;B7Z2H3;A0AV56;Q15424;B7ZLP6	.;.;.;SAFB1_HUMAN;.	V	128	ENSP00000292123:I128V	ENSP00000292123:I128V	I	+	1	0	SAFB	5592793	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	8.174000	0.89682	2.193000	0.70182	0.455000	0.32223	ATC		0.498	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			41	72	0	0	0	1	0	41	72				
MAGEA12	4111	broad.mit.edu	37	X	151900443	151900443	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chrX:151900443G>C	ENST00000357916.4	-	2	513	c.358C>G	c.(358-360)Ctg>Gtg	p.L120V	CSAG1_ENST00000370287.3_5'Flank|MAGEA12_ENST00000393869.3_Missense_Mutation_p.L120V|CSAG1_ENST00000370291.2_5'Flank|CSAG1_ENST00000452779.2_5'Flank|MAGEA12_ENST00000393900.3_Missense_Mutation_p.L120V|CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	120	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.L120M(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTGAGGAGCAGAAAATGAACC	0.498																																						ENST00000393900.3																			1	Substitution - Missense(1)	p.L120M(1)	large_intestine(1)	breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(358-360)Ctg>Gtg		melanoma antigen family A, 12							153.0	132.0	139.0					X																	151900443		2203	4300	6503	SO:0001583	missense	4111							g.chrX:151900443G>C		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.358C>G	X.37:g.151900443G>C	ENSP00000350592:p.Leu120Val					MAGEA12_ENST00000393869.3_Missense_Mutation_p.L120V|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.L120V	p.L120V	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN			3	711	-	Acute lymphoblastic leukemia(192;6.56e-05)		120			MAGE.		Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	c.358C>G	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.389172	0.25118	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.05319	3.46;3.46;3.46	1.1	1.1	0.20463	.	0.152719	0.44902	D	0.000412	T	0.20780	0.0500	M	0.88570	2.965	0.09310	N	1	D	0.63880	0.993	D	0.63877	0.919	T	0.02104	-1.1213	10	0.66056	D	0.02	.	5.1828	0.15169	0.0:0.0:1.0:0.0	.	120	P43365	MAGAC_HUMAN	V	120	ENSP00000350592:L120V;ENSP00000377447:L120V;ENSP00000377478:L120V	ENSP00000350592:L120V	L	-	1	2	MAGEA12	151651099	0.362000	0.24980	0.014000	0.15608	0.060000	0.15804	1.641000	0.37197	0.828000	0.34709	0.171000	0.16805	CTG		0.498	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		99	35	0	0	0	1	0	99	35				
ENGASE	64772	broad.mit.edu	37	17	77079611	77079611	+	Missense_Mutation	SNP	C	C	T	rs201668770	byFrequency	TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:77079611C>T	ENST00000579016.1	+	9	1190	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	397						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGCATCTGCTCCTTGCCTTTC	0.627																																						ENST00000579016.1																			0				breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						c.(1189-1191)tCc>tTc		endo-beta-N-acetylglucosaminidase		C	PHE/SER	0,4262		0,0,2131	116.0	120.0	119.0		1190	4.5	1.0	17		119	4,8492		0,4,4244	yes	missense	ENGASE	NM_001042573.1	155	0,4,6375	TT,TC,CC		0.0471,0.0,0.0314	probably-damaging	397/744	77079611	4,12754	2131	4248	6379	SO:0001583	missense	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77079611C>T	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1190C>T	17.37:g.77079611C>T	ENSP00000462333:p.Ser397Phe					ENGASE_ENST00000584568.1_3'UTR	p.S397F	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN			9	1190	+			397					Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.1190C>T	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274677	0.80580	0.0	4.71E-4	ENSG00000167280	ENST00000545583	.	.	.	5.47	4.5	0.54988	Glycoside hydrolase, family 85 (1);	0.178659	0.50627	D	0.000108	T	0.76392	0.3981	M	0.80508	2.5	0.80722	D	1	D	0.60575	0.988	P	0.58454	0.839	T	0.80603	-0.1309	9	0.72032	D	0.01	-7.6076	14.531	0.67926	0.0:0.929:0.0:0.071	.	397	Q8NFI3	ENASE_HUMAN	F	397	.	ENSP00000438577:S397F	S	+	2	0	ENGASE	74591206	0.237000	0.23815	0.989000	0.46669	0.835000	0.47333	2.974000	0.49272	1.304000	0.44892	0.561000	0.74099	TCC		0.627	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		38	14	0	0	0	1	0	38	14				
TRIM48	79097	broad.mit.edu	37	11	55033157	55033157	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:55033157A>G	ENST00000417545.2	+	3	627	c.541A>G	c.(541-543)Atc>Gtc	p.I181V		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	165						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AACCACCAGAATCAGCCACTG	0.403																																						ENST00000417545.2																			0				endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(541-543)Atc>Gtc		tripartite motif containing 48							48.0	53.0	52.0					11																	55033157		2187	4252	6439	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55033157A>G	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.541A>G	11.37:g.55033157A>G	ENSP00000402414:p.Ile181Val						p.I181V	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			3	627	+			165					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.541A>G	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	a	0.068	-1.209451	0.01568	.	.	ENSG00000150244	ENST00000417545	T	0.72167	-0.63	0.596	0.596	0.17496	.	.	.	.	.	T	0.23171	0.0560	N	0.00055	-2.375	0.09310	N	1	B	0.12013	0.005	B	0.13407	0.009	T	0.40942	-0.9536	8	0.07482	T	0.82	.	.	.	.	.	165	Q8IWZ4	TRI48_HUMAN	V	181	ENSP00000402414:I181V	ENSP00000402414:I181V	I	+	1	0	TRIM48	54789733	0.001000	0.12720	0.002000	0.10522	0.010000	0.07245	-0.202000	0.09451	0.526000	0.28541	0.338000	0.21704	ATC		0.403	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			7	56	0	0	0	1	0	7	56				
LPA	4018	broad.mit.edu	37	6	160953644	160953644	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr6:160953644G>A	ENST00000316300.5	-	38	5924	c.5880C>T	c.(5878-5880)ctC>ctT	p.L1960L	LPA_ENST00000447678.1_Silent_p.L1960L			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4468	Kringle 18. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAATAACAAGGAGCTGGGCTT	0.423																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(5878-5880)ctC>ctT		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)						68.0	66.0	67.0					6																	160953644		2118	4267	6385	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160953644G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5880C>T	6.37:g.160953644G>A						LPA_ENST00000484276.1_Intron|LPA_ENST00000316300.5_Silent_p.L1960L	p.L1960L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	39	6000	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4468			Kringle 18.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.5880C>T	CCDS43523.1																																																																																				0.423	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		5	60	0	0	0	1	0	5	60				
DRC1	92749	broad.mit.edu	37	2	26653720	26653720	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:26653720C>T	ENST00000288710.2	+	6	819	c.745C>T	c.(745-747)Cag>Tag	p.Q249*	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	249					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											GCAAGCCCTTCAGGCTCATAA	0.463																																						ENST00000288710.2																			0											c.(745-747)Cag>Tag		dynein regulatory complex subunit 1 homolog (Chlamydomonas)							107.0	110.0	109.0					2																	26653720		2203	4300	6503	SO:0001587	stop_gained	92749							g.chr2:26653720C>T	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.745C>T	2.37:g.26653720C>T	ENSP00000288710:p.Gln249*					DRC1_ENST00000483675.1_3'UTR	p.Q249*	NM_145038.2	NP_659475.2					6	819	+								A8K1N8|Q53R91|Q53TA3|Q8NDI5	Nonsense_Mutation	SNP	ENST00000288710.2	37	c.745C>T	CCDS1723.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994871	0.93167	.	.	ENSG00000157856	ENST00000288710;ENST00000442810	.	.	.	5.71	4.83	0.62350	.	0.194251	0.44688	D	0.000437	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-27.1651	12.2675	0.54686	0.0:0.919:0.0:0.081	.	.	.	.	X	249;78	.	ENSP00000288710:Q249X	Q	+	1	0	CCDC164	26507224	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	2.249000	0.43169	2.709000	0.92574	0.655000	0.94253	CAG		0.463	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038		41	181	0	0	0	1	0	41	181				
PVRIG	79037	broad.mit.edu	37	7	99818176	99818176	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:99818176C>G	ENST00000317271.2	+	4	839	c.476C>G	c.(475-477)tCt>tGt	p.S159C	GATS_ENST00000543273.1_RNA|AC005071.1_ENST00000410550.1_RNA|GATS_ENST00000436886.2_Intron	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	159						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAGGGCTCTCTGCCCCGCCG	0.672																																						ENST00000317271.2																			0				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11						c.(475-477)tCt>tGt		poliovirus receptor related immunoglobulin domain containing							35.0	40.0	38.0					7																	99818176		2203	4300	6503	SO:0001583	missense	79037					integral to membrane		g.chr7:99818176C>G	BC001129	CCDS5690.1	7q22.1	2013-06-26			ENSG00000213413	ENSG00000213413			32190	protein-coding gene	gene with protein product						16926269	Standard	NM_024070		Approved	MGC2463, C7orf15	uc003uuf.1	Q6DKI7	OTTHUMG00000156798	ENST00000317271.2:c.476C>G	7.37:g.99818176C>G	ENSP00000316675:p.Ser159Cys					GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron	p.S159C	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN			4	839	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		159					D6W5U9|Q9BVK3	Missense_Mutation	SNP	ENST00000317271.2	37	c.476C>G	CCDS5690.1	.	.	.	.	.	.	.	.	.	.	c	8.581	0.882416	0.17467	.	.	ENSG00000213413	ENST00000317271	T	0.52057	0.68	2.58	2.58	0.30949	.	.	.	.	.	T	0.40297	0.1111	N	0.14661	0.345	0.09310	N	1	D	0.55605	0.972	P	0.53450	0.726	T	0.14727	-1.0462	9	0.49607	T	0.09	.	8.8287	0.35072	0.0:1.0:0.0:0.0	.	159	Q6DKI7	PVRIG_HUMAN	C	159	ENSP00000316675:S159C	ENSP00000316675:S159C	S	+	2	0	PVRIG	99656112	0.001000	0.12720	0.067000	0.19924	0.091000	0.18340	1.185000	0.32065	1.774000	0.52232	0.423000	0.28283	TCT		0.672	PVRIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345870.2	NM_024070		19	107	0	0	0	1	0	19	107				
EML4	27436	broad.mit.edu	37	2	42556897	42556897	+	Silent	SNP	C	C	T	rs201235905		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:42556897C>T	ENST00000318522.5	+	23	2758	c.2496C>T	c.(2494-2496)gcC>gcT	p.A832A	EML4_ENST00000453191.2_Silent_p.A96A|EML4_ENST00000401738.3_Silent_p.A843A|EML4_ENST00000402711.2_Silent_p.A774A	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	832					microtubule-based process (GO:0007017)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|mitotic spindle (GO:0072686)			EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGTACAGTGCCCACAGCAGCC	0.423			T	ALK	NSCLC																																	ENST00000318522.5				Dom	yes		2	2p21	27436	T	echinoderm microtubule associated protein like 4			E	ALK		NSCLC	EML4/ALK(543)	0				NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2494-2496)gcC>gcT		echinoderm microtubule associated protein like 4							108.0	104.0	106.0					2																	42556897		2203	4300	6503	SO:0001819	synonymous_variant	27436				microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	g.chr2:42556897C>T	AF177377	CCDS1807.1, CCDS46266.1	2p21	2013-01-10		2002-02-15	ENSG00000143924	ENSG00000143924		"""WD repeat domain containing"""	1316	protein-coding gene	gene with protein product		607442		C2orf2			Standard	NM_019063		Approved	ROPP120, ELP120	uc002rsi.3	Q9HC35	OTTHUMG00000128603	ENST00000318522.5:c.2496C>T	2.37:g.42556897C>T						EML4_ENST00000453191.2_Silent_p.A96A|EML4_ENST00000402711.2_Silent_p.A774A|EML4_ENST00000401738.3_Silent_p.A843A	p.A832A	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN			23	2758	+			832					A6H8Y6|B2RBK3|B2RTW7|B5MCW9|Q3SWW0|Q53R29|Q53TW8|Q6PJ45|Q9NV40	Silent	SNP	ENST00000318522.5	37	c.2496C>T	CCDS1807.1																																																																																				0.423	EML4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250463.3	NM_019063		14	190	0	0	0	1	0	14	190				
FOCAD	54914	broad.mit.edu	37	9	20867006	20867006	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr9:20867006G>A	ENST00000380249.1	+	20	2549	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	FOCAD_ENST00000605086.1_Missense_Mutation_p.E165K|FOCAD_ENST00000338382.6_Missense_Mutation_p.E729K	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	729						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TCATCTGCCTGAAAAGGTAGG	0.378																																						ENST00000380249.1																			0											c.(2185-2187)Gaa>Aaa		focadhesin							115.0	105.0	109.0					9																	20867006		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20867006G>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.2185G>A	9.37:g.20867006G>A	ENSP00000369599:p.Glu729Lys					FOCAD_ENST00000338382.6_Missense_Mutation_p.E729K|FOCAD_ENST00000605086.1_Missense_Mutation_p.E165K	p.E729K	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN			20	2549	+			729					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.2185G>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665655	0.88251	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.68181	-0.31;-0.31	5.46	5.46	0.80206	Armadillo-type fold (1);	0.049476	0.85682	D	0.000000	T	0.74366	0.3707	L	0.52573	1.65	0.58432	D	0.999999	D	0.60575	0.988	P	0.54759	0.76	T	0.75575	-0.3270	10	0.59425	D	0.04	-28.7843	19.6821	0.95969	0.0:0.0:1.0:0.0	.	729	Q5VW36	K1797_HUMAN	K	729	ENSP00000369599:E729K;ENSP00000344307:E729K	ENSP00000344307:E729K	E	+	1	0	KIAA1797	20857006	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	4.652000	0.61454	2.719000	0.93026	0.555000	0.69702	GAA		0.378	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		50	33	0	0	0	1	0	50	33				
UNC5C	8633	broad.mit.edu	37	4	96166139	96166139	+	Missense_Mutation	SNP	G	G	T	rs200437262		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr4:96166139G>T	ENST00000453304.1	-	6	1280	c.932C>A	c.(931-933)aCg>aAg	p.T311K	UNC5C_ENST00000506749.1_Missense_Mutation_p.T311K	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	311	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGGGCATAACGTAGTACAGGC	0.433																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(931-933)aCg>aAg		unc-5 homolog C (C. elegans)							199.0	198.0	199.0					4																	96166139		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96166139G>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.932C>A	4.37:g.96166139G>T	ENSP00000406022:p.Thr311Lys					UNC5C_ENST00000506749.1_Missense_Mutation_p.T311K	p.T311K	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	6	1280	-		Hepatocellular(203;0.114)	311			TSP type-1 1.		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.932C>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839233	0.71373	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.59638	0.57;0.25;0.25	5.2	5.2	0.72013	.	0.171732	0.52532	D	0.000067	T	0.67608	0.2911	L	0.43923	1.385	0.80722	D	1	P;P;B	0.47545	0.897;0.846;0.376	P;B;B	0.57425	0.82;0.313;0.236	T	0.69277	-0.5187	10	0.72032	D	0.01	.	18.9313	0.92566	0.0:0.0:1.0:0.0	.	311;311;311	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	K	311;270;311;311	ENSP00000406022:T311K;ENSP00000426924:T311K;ENSP00000426153:T311K	ENSP00000328673:T270K	T	-	2	0	UNC5C	96385162	1.000000	0.71417	0.733000	0.30861	0.738000	0.42128	9.593000	0.98250	2.717000	0.92951	0.655000	0.94253	ACG		0.433	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		8	111	1	0	0.0381472	1	0.0383419	8	111				
CLCN3	1182	broad.mit.edu	37	4	170634356	170634356	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr4:170634356C>G	ENST00000513761.1	+	12	2835	c.2276C>G	c.(2275-2277)cCt>cGt	p.P759R	CLCN3_ENST00000360642.3_Missense_Mutation_p.P732R|CLCN3_ENST00000347613.4_Missense_Mutation_p.P759R|CLCN3_ENST00000504131.2_Missense_Mutation_p.P742R	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	759	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GACATGAGCCCTTTTACAGTG	0.507																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(2275-2277)cCt>cGt		chloride channel, voltage-sensitive 3							127.0	109.0	115.0					4																	170634356		2203	4300	6503	SO:0001583	missense	1182				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170634356C>G	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.2276C>G	4.37:g.170634356C>G	ENSP00000424603:p.Pro759Arg					CLCN3_ENST00000347613.4_Missense_Mutation_p.P759R|CLCN3_ENST00000360642.3_Missense_Mutation_p.P732R|CLCN3_ENST00000504131.2_Missense_Mutation_p.P742R	p.P759R	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	12	2835	+		Prostate(90;0.00601)|Renal(120;0.0183)	759			CBS 2.		B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.2276C>G	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268440	0.80469	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43	5.3	5.3	0.74995	Cystathionine beta-synthase, core (3);	0.000000	0.85682	D	0.000000	D	0.98570	0.9522	H	0.98407	4.225	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.99771	1.1024	10	0.87932	D	0	-7.0978	18.956	0.92658	0.0:1.0:0.0:0.0	.	732;742;759;759	B7Z932;B9EGJ9;P51790;P51790-2	.;.;CLCN3_HUMAN;.	R	759;759;732;742	ENSP00000424603:P759R;ENSP00000261514:P759R;ENSP00000353857:P732R;ENSP00000424540:P742R	ENSP00000261514:P759R	P	+	2	0	CLCN3	170870931	1.000000	0.71417	0.991000	0.47740	0.513000	0.34164	7.818000	0.86416	2.463000	0.83235	0.650000	0.86243	CCT		0.507	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			28	44	0	0	0	1	0	28	44				
BCAS1	8537	broad.mit.edu	37	20	52573993	52573993	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr20:52573993T>C	ENST00000395961.3	-	10	1560	c.1394A>G	c.(1393-1395)aAt>aGt	p.N465S	BCAS1_ENST00000434986.2_Intron|BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000371440.3_Intron	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	465						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GTCTTTCCCATTTATTTCTTC	0.433																																						ENST00000395961.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(1393-1395)aAt>aGt		breast carcinoma amplified sequence 1							238.0	194.0	209.0					20																	52573993		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52573993T>C	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1394A>G	20.37:g.52573993T>C	ENSP00000379290:p.Asn465Ser					BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000371440.3_Intron|BCAS1_ENST00000434986.2_Intron	p.N465S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		10	1560	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		465					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.1394A>G	CCDS13444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.41|14.41	2.527934|2.527934	0.44969|0.44969	.|.	.|.	ENSG00000064787|ENSG00000064787	ENST00000422805|ENST00000395961	.|T	.|0.10763	.|2.84	5.55|5.55	4.44|4.44	0.53790|0.53790	.|.	.|.	.|.	.|.	.|.	T|T	0.11965|0.11965	0.0291|0.0291	L|L	0.59436|0.59436	1.845|1.845	0.34672|0.34672	D|D	0.723808|0.723808	.|B;B	.|0.22909	.|0.077;0.077	.|B;B	.|0.27715	.|0.082;0.082	T|T	0.08994|0.08994	-1.0695|-1.0695	5|9	.|0.40728	.|T	.|0.16	.|.	5.9396|5.9396	0.19186|0.19186	0.1455:0.0796:0.0:0.7748|0.1455:0.0796:0.0:0.7748	.|.	.|465;465	.|A0AVG7;O75363	.|.;BCAS1_HUMAN	V|S	128|465	.|ENSP00000379290:N465S	.|ENSP00000379290:N465S	M|N	-|-	1|2	0|0	BCAS1|BCAS1	52007400|52007400	0.518000|0.518000	0.26234|0.26234	0.987000|0.987000	0.45799|0.45799	0.998000|0.998000	0.95712|0.95712	1.747000|1.747000	0.38298|0.38298	0.933000|0.933000	0.37291|0.37291	0.459000|0.459000	0.35465|0.35465	ATG|AAT		0.433	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		27	35	0	0	0	1	0	27	35				
TGFB2	7042	broad.mit.edu	37	1	218607543	218607543	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:218607543G>C	ENST00000366930.4	+	3	1097	c.630G>C	c.(628-630)tgG>tgC	p.W210C	TGFB2_ENST00000479322.1_3'UTR|TGFB2_ENST00000366929.4_Missense_Mutation_p.W238C	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	210					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TTCATGAATGGCTTCACCATA	0.423																																						ENST00000366929.4																			0				breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(712-714)tgG>tgC		transforming growth factor, beta 2							137.0	119.0	125.0					1																	218607543		2203	4300	6503	SO:0001583	missense	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218607543G>C	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.630G>C	1.37:g.218607543G>C	ENSP00000355897:p.Trp210Cys					TGFB2_ENST00000366930.4_Missense_Mutation_p.W210C|TGFB2_ENST00000479322.1_3'UTR	p.W238C	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	4	1181	+			210					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	c.714G>C	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423974	0.83667	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	D;D	0.90844	-2.74;-2.74	5.91	5.91	0.95273	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96303	0.8794	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.73708	0.979;0.981	D	0.96270	0.9198	10	0.87932	D	0	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	238;210	P61812-2;P61812	.;TGFB2_HUMAN	C	210;238	ENSP00000355897:W210C;ENSP00000355896:W238C	ENSP00000355896:W238C	W	+	3	0	TGFB2	216674166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.414000	0.97362	2.808000	0.96608	0.655000	0.94253	TGG		0.423	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		40	93	0	0	0	1	0	40	93				
MYO10	4651	broad.mit.edu	37	5	16703230	16703230	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr5:16703230T>C	ENST00000513610.1	-	23	2768	c.2314A>G	c.(2314-2316)Ata>Gta	p.I772V	MYO10_ENST00000512061.1_5'UTR|MYO10_ENST00000274203.9_Missense_Mutation_p.I129V|MYO10_ENST00000505695.1_Missense_Mutation_p.I111V|MYO10_ENST00000515803.1_Missense_Mutation_p.I111V|MYO10_ENST00000427430.2_Missense_Mutation_p.I129V	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	772	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTCTTCTGTATTATCACCACA	0.388																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(2314-2316)Ata>Gta		myosin X							40.0	35.0	37.0					5																	16703230		1842	4088	5930	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16703230T>C	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.2314A>G	5.37:g.16703230T>C	ENSP00000421280:p.Ile772Val					MYO10_ENST00000512061.1_5'UTR|MYO10_ENST00000274203.9_Missense_Mutation_p.I129V|MYO10_ENST00000505695.1_Missense_Mutation_p.I111V|MYO10_ENST00000515803.1_Missense_Mutation_p.I111V|MYO10_ENST00000427430.2_Missense_Mutation_p.I129V	p.I772V	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			23	2768	-			772			IQ 2.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.2314A>G	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	T	11.17	1.560474	0.27827	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430;ENST00000513882	T;T;T;T;T;T	0.77750	-1.12;0.72;0.72;0.72;0.72;0.72	5.61	4.43	0.53597	.	.	.	.	.	D	0.85852	0.5793	M	0.74546	2.27	0.58432	D	0.999998	D;P	0.63880	0.993;0.727	D;B	0.76071	0.987;0.315	D	0.83414	0.0029	9	0.24483	T	0.36	.	12.9272	0.58266	0.0:0.0:0.1354:0.8646	.	413;772	Q69YP8;Q9HD67	.;MYO10_HUMAN	V	772;111;129;111;129;783	ENSP00000421280:I772V;ENSP00000425051:I111V;ENSP00000274203:I129V;ENSP00000421170:I111V;ENSP00000391106:I129V;ENSP00000421309:I783V	ENSP00000274203:I129V	I	-	1	0	MYO10	16756230	1.000000	0.71417	0.199000	0.23439	0.423000	0.31445	4.869000	0.63028	0.935000	0.37341	0.455000	0.32223	ATA		0.388	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		5	10	0	0	0	1	0	5	10				
ANKHD1	54882	broad.mit.edu	37	5	139908791	139908791	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr5:139908791C>G	ENST00000360839.2	+	29	6414	c.6260C>G	c.(6259-6261)tCt>tGt	p.S2087C	SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Missense_Mutation_p.S2087C|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S2087C|ANKHD1_ENST00000544120.1_Missense_Mutation_p.S470C	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2087	Ser-rich.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGTGTGTCTGATTTAAGT	0.498																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(6259-6261)tCt>tGt		ankyrin repeat and KH domain containing 1							159.0	154.0	156.0					5																	139908791		2203	4300	6503	SO:0001583	missense	54882							g.chr5:139908791C>G	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.6260C>G	5.37:g.139908791C>G	ENSP00000354085:p.Ser2087Cys					ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S2087C|ANKHD1_ENST00000360839.2_Missense_Mutation_p.S2087C|ANKHD1_ENST00000544120.1_Missense_Mutation_p.S470C	p.S2087C	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		29	6384	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.6260C>G	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	C	7.388	0.630195	0.14257	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219;ENST00000437495	T;T;T;T;T;T;T	0.68624	-0.29;-0.34;1.77;1.76;1.34;-0.34;0.75	5.19	4.33	0.51752	.	0.000000	0.64402	D	0.000019	T	0.76637	0.4015	L	0.43152	1.355	0.23649	N	0.997209	D;B;D;B;B;B	0.76494	0.999;0.0;0.999;0.0;0.0;0.0	D;B;D;B;B;B	0.80764	0.987;0.0;0.994;0.0;0.0;0.0	T	0.71948	-0.4438	10	0.59425	D	0.04	.	17.1744	0.86837	0.0:0.872:0.128:0.0	.	470;517;470;2087;2087;2087	Q8IWG5;Q9H059;F6WFL0;E9PF56;Q8IWZ2;Q8IWZ3	.;.;.;.;.;ANKH1_HUMAN	C	2087;2087;2087;743;522;609;470;2087;98	ENSP00000354085:S2087C;ENSP00000297183:S2087C;ENSP00000393204:S743C;ENSP00000390034:S609C;ENSP00000437687:S470C;ENSP00000432016:S2087C;ENSP00000396882:S98C	ENSP00000396882:S98C	S	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139888975	0.999000	0.42202	0.917000	0.36280	0.387000	0.30353	5.086000	0.64474	0.785000	0.33685	-1.273000	0.01405	TCT		0.498	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		4	102	0	0	0	1	0	4	102				
PCDHGA2	56113	broad.mit.edu	37	5	140719127	140719127	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr5:140719127G>C	ENST00000394576.2	+	1	589	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	197	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGGTGCTGGAGCGCTCTCT	0.587																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(589-591)Gag>Cag									91.0	86.0	87.0					5																	140719127		2203	4300	6503	SO:0001583	missense	56113							g.chr5:140719127G>C	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.589G>C	5.37:g.140719127G>C	ENSP00000378077:p.Glu197Gln					PCDHGA1_ENST00000517417.1_Intron	p.E197Q	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	589	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.589G>C	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	1.439	-0.568265	0.03910	.	.	ENSG00000081853	ENST00000394576	T	0.51325	0.71	5.26	2.48	0.30137	Cadherin (4);Cadherin-like (1);	0.171389	0.27214	U	0.020389	T	0.38401	0.1039	L	0.33710	1.025	0.09310	N	1	B;B	0.30584	0.026;0.286	B;B	0.37989	0.121;0.262	T	0.25916	-1.0118	10	0.25751	T	0.34	.	11.0017	0.47609	0.0697:0.3596:0.5707:0.0	.	197;197	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	Q	197	ENSP00000378077:E197Q	ENSP00000378077:E197Q	E	+	1	0	PCDHGA2	140699311	0.003000	0.15002	0.140000	0.22221	0.031000	0.12232	1.008000	0.29872	0.307000	0.22880	0.655000	0.94253	GAG		0.587	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		36	24	0	0	0	1	0	36	24				
MYH4	4622	broad.mit.edu	37	17	10354706	10354706	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:10354706C>T	ENST00000255381.2	-	28	3912	c.3802G>A	c.(3802-3804)Gaa>Aaa	p.E1268K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1268					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGTTGCTCTTCTTCCTTTGTT	0.428																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(3802-3804)Gaa>Aaa		myosin, heavy chain 4, skeletal muscle							268.0	226.0	240.0					17																	10354706		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10354706C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3802G>A	17.37:g.10354706C>T	ENSP00000255381:p.Glu1268Lys					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.E1268K	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			28	3912	-			1268						Missense_Mutation	SNP	ENST00000255381.2	37	c.3802G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	36	5.723719	0.96847	.	.	ENSG00000141048	ENST00000255381	T	0.79352	-1.26	5.62	5.62	0.85841	Myosin tail (1);	0.000000	0.37577	U	0.002030	D	0.87233	0.6126	M	0.88979	2.995	0.80722	D	1	P	0.40970	0.734	P	0.48571	0.582	D	0.88539	0.3108	10	0.72032	D	0.01	.	20.0359	0.97557	0.0:1.0:0.0:0.0	.	1268	Q9Y623	MYH4_HUMAN	K	1268	ENSP00000255381:E1268K	ENSP00000255381:E1268K	E	-	1	0	MYH4	10295431	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.815000	0.86186	2.805000	0.96524	0.655000	0.94253	GAA		0.428	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		40	78	0	0	0	1	0	40	78				
ZNF385B	151126	broad.mit.edu	37	2	180309621	180309621	+	Silent	SNP	C	C	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:180309621C>A	ENST00000410066.1	-	9	1782	c.1179G>T	c.(1177-1179)cgG>cgT	p.R393R	ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Silent_p.R291R|ZNF385B_ENST00000409343.1_Silent_p.R317R|ZNF385B_ENST00000336917.5_Silent_p.R291R	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	393	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TACTCGGGCTCCGCTGGAGTT	0.502																																					Colon(155;204 2491 32774 51842)	ENST00000410066.1																			0				breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26						c.(1177-1179)cgG>cgT		zinc finger protein 385B							233.0	227.0	229.0					2																	180309621		2203	4300	6503	SO:0001819	synonymous_variant	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180309621C>A	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.1179G>T	2.37:g.180309621C>A						ZNF385B_ENST00000409692.1_Silent_p.R291R|ZNF385B_ENST00000336917.5_Silent_p.R291R|ZNF385B_ENST00000409343.1_Silent_p.R317R|ZNF385B_ENST00000466398.1_5'UTR	p.R393R	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		9	1782	-			393					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Silent	SNP	ENST00000410066.1	37	c.1179G>T	CCDS33339.1																																																																																				0.502	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520		42	163	1	0	1.19451e-25	1	1.29296e-25	42	163				
BMP6	654	broad.mit.edu	37	6	7845476	7845476	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr6:7845476C>A	ENST00000283147.6	+	2	927	c.768C>A	c.(766-768)ttC>ttA	p.F256L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	256					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CTGCAGAATTCCGCATCTACA	0.458																																						ENST00000283147.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23						c.(766-768)ttC>ttA		bone morphogenetic protein 6							115.0	114.0	114.0					6																	7845476		2203	4300	6503	SO:0001583	missense	654				BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	g.chr6:7845476C>A	AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.768C>A	6.37:g.7845476C>A	ENSP00000283147:p.Phe256Leu						p.F256L	NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN			2	927	+	Ovarian(93;0.0721)		256					Q5TCP3	Missense_Mutation	SNP	ENST00000283147.6	37	c.768C>A	CCDS4503.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211631	0.58452	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.24908	1.83	5.41	4.35	0.52113	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.19685	0.0473	N	0.21142	0.635	0.51767	D	0.999931	D	0.65815	0.995	D	0.70016	0.967	T	0.01767	-1.1278	10	0.24483	T	0.36	.	9.3202	0.37959	0.0:0.7905:0.0:0.2095	.	256	P22004	BMP6_HUMAN	L	178;256;219	ENSP00000283147:F256L	ENSP00000283147:F256L	F	+	3	2	BMP6	7790475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.009000	0.29886	2.528000	0.85240	0.557000	0.71058	TTC		0.458	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039794.1	NM_001718		86	30	1	0	6.8793e-45	1	7.57107e-45	86	30				
ABCB1	5243	broad.mit.edu	37	7	87144634	87144634	+	Silent	SNP	C	C	T	rs368096241		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:87144634C>T	ENST00000265724.3	-	26	3612	c.3195G>A	c.(3193-3195)acG>acA	p.T1065T	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.T1001T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1065	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CCAGAGCCAGCGTCTGGCCCT	0.567																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(3193-3195)acG>acA		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	C		0,4406		0,0,2203	65.0	60.0	62.0		3195	-5.7	1.0	7		62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ABCB1	NM_000927.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1065/1281	87144634	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87144634C>T	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.3195G>A	7.37:g.87144634C>T						ABCB1_ENST00000543898.1_Silent_p.T1001T|ABCB1_ENST00000488737.2_5'UTR	p.T1065T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			26	3612	-	Esophageal squamous(14;0.00164)		1065			ABC transporter 2.		A8K294|B5AK60|Q12755|Q14812	Silent	SNP	ENST00000265724.3	37	c.3195G>A	CCDS5608.1																																																																																				0.567	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		136	43	0	0	0	1	0	136	43				
OR4A47	403253	broad.mit.edu	37	11	48510887	48510887	+	Silent	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:48510887C>G	ENST00000446524.1	+	1	619	c.543C>G	c.(541-543)ccC>ccG	p.P181P		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ACATGTATCCCTTATTGAAAC	0.438																																						ENST00000446524.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(541-543)ccC>ccG		olfactory receptor, family 4, subfamily A, member 47							166.0	158.0	161.0					11																	48510887		2201	4298	6499	SO:0001819	synonymous_variant	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510887C>G	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.543C>G	11.37:g.48510887C>G							p.P181P	NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN			1	619	+			181						Silent	SNP	ENST00000446524.1	37	c.543C>G	CCDS31490.1																																																																																				0.438	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		71	215	0	0	0	1	0	71	215				
CCBL1	883	broad.mit.edu	37	9	131600028	131600028	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr9:131600028G>A	ENST00000302586.3	-	6	665	c.503C>T	c.(502-504)gCc>gTc	p.A168V	CCBL1_ENST00000436267.2_Missense_Mutation_p.A262V|CCBL1_ENST00000320665.6_Missense_Mutation_p.A118V|CCBL1_ENST00000483599.1_5'UTR	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	168					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	GAATTTGCCGGCCAGCTCCAT	0.612																																						ENST00000436267.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(784-786)gCc>gTc		cysteine conjugate-beta lyase, cytoplasmic	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)						78.0	84.0	82.0					9																	131600028		2045	4167	6212	SO:0001583	missense	883				kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr9:131600028G>A	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"""glutamine transaminase K"", ""kyneurenine aminotransferase"""	600547	"""cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"""			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.503C>T	9.37:g.131600028G>A	ENSP00000302227:p.Ala168Val					CCBL1_ENST00000320665.6_Missense_Mutation_p.A118V|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Missense_Mutation_p.A168V	p.A262V			Q16773	KAT1_HUMAN			8	934	-			168					Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	37	c.785C>T	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109665	0.94292	.	.	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267;ENST00000451800;ENST00000416084	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	5.36	5.36	0.76844	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.95373	0.8498	M	0.80028	2.48	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.75484	0.969;0.986;0.92;0.92	D	0.95363	0.8457	10	0.54805	T	0.06	-13.6676	17.6326	0.88113	0.0:0.0:1.0:0.0	.	262;118;168;168	B7Z4W5;Q16773-2;Q16773;Q5T278	.;.;KAT1_HUMAN;.	V	168;118;262;168;168	ENSP00000302227:A168V;ENSP00000317342:A118V;ENSP00000399415:A262V;ENSP00000390377:A168V;ENSP00000412402:A168V	ENSP00000302227:A168V	A	-	2	0	CCBL1	130639849	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	8.738000	0.91569	2.490000	0.84030	0.655000	0.94253	GCC		0.612	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2			4	74	0	0	0	1	0	4	74				
KIAA1522	57648	broad.mit.edu	37	1	33237324	33237324	+	Silent	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:33237324C>T	ENST00000373480.1	+	6	2470	c.2367C>T	c.(2365-2367)gcC>gcT	p.A789A	KIAA1522_ENST00000401073.2_Silent_p.A848A|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.A800A	NM_001198972.1	NP_001185901.1	Q9P206	K1522_HUMAN	KIAA1522	789	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTAGTTCCGCCCCAGGGCATG	0.672																																						ENST00000401073.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(2542-2544)gcC>gcT		KIAA1522							26.0	30.0	29.0					1																	33237324		1980	4153	6133	SO:0001819	synonymous_variant	57648							g.chr1:33237324C>T	AL713671	CCDS41298.1, CCDS55588.1, CCDS55589.1	1p35.1	2009-02-18			ENSG00000162522	ENSG00000162522			29301	protein-coding gene	gene with protein product						10819331	Standard	NM_020888		Approved		uc001bvu.1	Q9P206	OTTHUMG00000008088	ENST00000373480.1:c.2367C>T	1.37:g.33237324C>T						KIAA1522_ENST00000373480.1_Silent_p.A789A|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.A800A	p.A848A	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN			6	2614	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	789			Pro-rich.		B4DQU8|B5MDY0|C9JH84|Q8TCQ0	Silent	SNP	ENST00000373480.1	37	c.2544C>T	CCDS55588.1																																																																																				0.672	KIAA1522-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022130.1			7	25	0	0	0	1	0	7	25				
EGFLAM	133584	broad.mit.edu	37	5	38463979	38463979	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr5:38463979G>C	ENST00000354891.3	+	23	3291	c.2945G>C	c.(2944-2946)aGa>aCa	p.R982T	EGFLAM_ENST00000322350.5_Missense_Mutation_p.R974T|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R740T|EGFLAM_ENST00000397202.2_Missense_Mutation_p.R340T|CTD-2263F21.1_ENST00000510137.1_RNA|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000397210.3_Missense_Mutation_p.R117T|EGFLAM_ENST00000506135.1_Missense_Mutation_p.R117T|EGFLAM_ENST00000514476.1_Missense_Mutation_p.R117T	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	982	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CAATATATGAGAGGGCTCGTG	0.522																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(2920-2922)aGa>aCa		EGF-like, fibronectin type III and laminin G domains							142.0	114.0	123.0					5																	38463979		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38463979G>C	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2945G>C	5.37:g.38463979G>C	ENSP00000346964:p.Arg982Thr					EGFLAM_ENST00000354891.3_Missense_Mutation_p.R982T|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000397202.2_Missense_Mutation_p.R340T|EGFLAM_ENST00000514476.1_Missense_Mutation_p.R117T|EGFLAM_ENST00000336740.6_Missense_Mutation_p.R740T|EGFLAM_ENST00000397210.3_Missense_Mutation_p.R117T|EGFLAM_ENST00000506135.1_Missense_Mutation_p.R117T	p.R974T	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			22	3267	+	all_lung(31;0.000385)		982			Laminin G-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.2921G>C	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.358969	0.41801	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580;ENST00000397210;ENST00000506135;ENST00000514476	T;T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.056423	0.64402	D	0.000001	T	0.75019	0.3793	L	0.31664	0.95	0.58432	D	0.999997	B;P;P;B	0.42941	0.024;0.515;0.794;0.017	B;B;P;B	0.46144	0.042;0.433;0.505;0.026	T	0.70037	-0.4982	10	0.23891	T	0.37	-2.9437	20.3539	0.98825	0.0:0.0:1.0:0.0	.	340;740;982;974	Q63HQ2-3;Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;.;EGFLA_HUMAN;.	T	982;974;740;340;740;117;117;117	ENSP00000346964:R982T;ENSP00000313084:R974T;ENSP00000337607:R740T;ENSP00000380385:R340T;ENSP00000380393:R117T;ENSP00000425579:R117T;ENSP00000423228:R117T	ENSP00000313084:R974T	R	+	2	0	EGFLAM	38499736	1.000000	0.71417	0.986000	0.45419	0.878000	0.50629	6.153000	0.71819	2.826000	0.97356	0.655000	0.94253	AGA		0.522	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		24	59	0	0	0	1	0	24	59				
CATSPER1	117144	broad.mit.edu	37	11	65790418	65790418	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:65790418G>A	ENST00000312106.5	-	2	1468	c.1331C>T	c.(1330-1332)aCc>aTc	p.T444I		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	444					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CAAGGATTGGGTCAGGTTCCG	0.547											OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000312106.5																			0				breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						c.(1330-1332)aCc>aTc		cation channel, sperm associated 1							113.0	110.0	111.0					11																	65790418		2201	4296	6497	SO:0001583	missense	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65790418G>A	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1331C>T	11.37:g.65790418G>A	ENSP00000309052:p.Thr444Ile		OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086		p.T444I	NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN			2	1468	-			444					Q96P76	Missense_Mutation	SNP	ENST00000312106.5	37	c.1331C>T	CCDS8127.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.966923	0.53507	.	.	ENSG00000175294	ENST00000312106	D	0.96587	-4.06	5.62	-0.168	0.13343	.	1.104100	0.07176	N	0.853220	D	0.91862	0.7424	L	0.31926	0.97	0.09310	N	1	B	0.24721	0.11	B	0.17433	0.018	T	0.82436	-0.0458	10	0.36615	T	0.2	-7.1767	7.5237	0.27643	0.5954:0.0:0.4046:0.0	.	444	Q8NEC5	CTSR1_HUMAN	I	444	ENSP00000309052:T444I	ENSP00000309052:T444I	T	-	2	0	CATSPER1	65546994	0.206000	0.23470	0.029000	0.17559	0.059000	0.15707	0.547000	0.23299	0.052000	0.16007	0.563000	0.77884	ACC		0.547	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		36	47	0	0	0	1	0	36	47				
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81443821	81443821	+	RNA	SNP	C	C	G	rs564183572		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr10:81443821C>G	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GCAGCACCATCGCCTCAGACC	0.612																																						ENST00000600376.1																			0																																																			101060691							g.chr10:81443821C>G																													10.37:g.81443821C>G						RP11-119F19.2_ENST00000596088.1_RNA								0	54	-									RNA	SNP	ENST00000600376.1	37																																																																																						0.612	RP11-119F19.2-004	KNOWN	basic	antisense	antisense	OTTHUMT00000461766.1			3	35	0	0	0	1	0	3	35				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	66	0	0	0	1	0	5	66				
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C	p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		34	9	0	0	0	1	0	34	9				
PSAP	5660	broad.mit.edu	37	10	73588703	73588703	+	Silent	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr10:73588703G>C	ENST00000394936.3	-	5	654	c.507C>G	c.(505-507)gcC>gcG	p.A169A	PSAP_ENST00000394934.1_Silent_p.A169A			P07602	SAP_HUMAN	prosaposin	169					blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CCATGAAGGGGGCCACCACCT	0.597																																						ENST00000394936.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(505-507)gcC>gcG		prosaposin							85.0	81.0	82.0					10																	73588703		2203	4300	6503	SO:0001819	synonymous_variant	5660				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73588703G>C	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.507C>G	10.37:g.73588703G>C						PSAP_ENST00000394934.1_Silent_p.A169A	p.A169A			P07602	SAP_HUMAN			5	654	-			169					P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Silent	SNP	ENST00000394936.3	37	c.507C>G	CCDS7311.1																																																																																				0.597	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		54	77	0	0	0	1	0	54	77				
USH2A	7399	broad.mit.edu	37	1	215990498	215990498	+	Silent	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:215990498A>G	ENST00000307340.3	-	48	9797	c.9411T>C	c.(9409-9411)aaT>aaC	p.N3137N	USH2A_ENST00000366943.2_Silent_p.N3137N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3137	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAATGATGCCATTTGGCTTCC	0.403										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(9409-9411)aaT>aaC		Usher syndrome 2A (autosomal recessive, mild)							113.0	109.0	110.0					1																	215990498		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215990498A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9411T>C	1.37:g.215990498A>G		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.N3137N	p.N3137N			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	48	9797	-			3137			Fibronectin type-III 18.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.9411T>C	CCDS31025.1																																																																																				0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		34	104	0	0	0	1	0	34	104				
ALKBH4	54784	broad.mit.edu	37	7	102098127	102098127	+	Missense_Mutation	SNP	G	G	A	rs544559313		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:102098127G>A	ENST00000292566.3	-	3	662	c.623C>T	c.(622-624)tCg>tTg	p.S208L		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	208					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			kidney(1)|lung(5)|skin(2)	8						CGGGGCAGCCGACGGGGCCGA	0.711													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13272	0.0		0.0	False		,,,				2504	0.0					ENST00000292566.3																			0				kidney(1)|lung(5)|skin(2)	8						c.(622-624)tCg>tTg		alkB, alkylation repair homolog 4 (E. coli)							6.0	7.0	7.0					7																	102098127		2118	4176	6294	SO:0001583	missense	54784					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr7:102098127G>A	BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"""Alkylation repair homologs"""	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.623C>T	7.37:g.102098127G>A	ENSP00000292566:p.Ser208Leu						p.S208L	NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN			3	662	-			208					Q53H92|Q9H6A4	Missense_Mutation	SNP	ENST00000292566.3	37	c.623C>T	CCDS5723.1	.	.	.	.	.	.	.	.	.	.	G	6.378	0.437855	0.12104	.	.	ENSG00000160993	ENST00000292566	T	0.46451	0.87	4.56	3.63	0.41609	Oxoglutarate/iron-dependent oxygenase (1);	1.022500	0.07767	N	0.951171	T	0.36276	0.0961	L	0.46157	1.445	0.09310	N	1	P	0.36874	0.572	B	0.32677	0.15	T	0.15435	-1.0437	10	0.34782	T	0.22	-14.2704	11.3065	0.49338	0.0:0.0:0.6822:0.3178	.	208	Q9NXW9	ALKB4_HUMAN	L	208	ENSP00000292566:S208L	ENSP00000292566:S208L	S	-	2	0	ALKBH4	101885132	0.196000	0.23350	0.004000	0.12327	0.088000	0.18126	3.112000	0.50368	2.359000	0.80004	0.561000	0.74099	TCG		0.711	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	NM_017621		4	19	0	0	0	1	0	4	19				
NUFIP2	57532	broad.mit.edu	37	17	27591595	27591595	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:27591595T>A	ENST00000225388.4	-	4	2108	c.2050A>T	c.(2050-2052)Atc>Ttc	p.I684F	NUFIP2_ENST00000579665.1_Missense_Mutation_p.I109F	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	684						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TTGTAAGTGATTATCCTTTTG	0.378																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(2050-2052)Atc>Ttc		nuclear fragile X mental retardation protein interacting protein 2							150.0	131.0	137.0					17																	27591595		2203	4300	6503	SO:0001583	missense	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27591595T>A	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.2050A>T	17.37:g.27591595T>A	ENSP00000225388:p.Ile684Phe					NUFIP2_ENST00000579665.1_Missense_Mutation_p.I109F	p.I684F	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		4	2108	-			684					A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	c.2050A>T	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.517599	0.64634	.	.	ENSG00000108256	ENST00000225388	.	.	.	5.72	5.72	0.89469	.	0.070231	0.64402	D	0.000018	T	0.62600	0.2441	L	0.29908	0.895	0.33562	D	0.597467	D;D	0.76494	0.999;0.997	D;D	0.78314	0.991;0.986	T	0.73401	-0.3994	9	0.72032	D	0.01	-1.317	16.0205	0.80486	0.0:0.0:0.0:1.0	.	684;109	Q7Z417;A1L3A6	NUFP2_HUMAN;.	F	684	.	ENSP00000225388:I684F	I	-	1	0	NUFIP2	24615721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.809000	0.47971	2.194000	0.70268	0.533000	0.62120	ATC		0.378	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		49	73	0	0	0	1	0	49	73				
PDE4A	5141	broad.mit.edu	37	19	10571732	10571732	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr19:10571732A>T	ENST00000352831.6	+	11	1528	c.1418A>T	c.(1417-1419)cAc>cTc	p.H473L	PDE4A_ENST00000380702.2_Missense_Mutation_p.H451L|PDE4A_ENST00000592685.1_Missense_Mutation_p.H451L|PDE4A_ENST00000293683.5_Missense_Mutation_p.H447L|PDE4A_ENST00000440014.2_Missense_Mutation_p.H412L|PDE4A_ENST00000344979.3_Missense_Mutation_p.H234L	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	473	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	GCTGCCATCCACGATGTGGAT	0.597																																						ENST00000380702.2																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.(1351-1353)cAc>cTc		phosphodiesterase 4A, cAMP-specific	Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)						48.0	41.0	43.0					19																	10571732		2203	4300	6503	SO:0001583	missense	5141				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding	g.chr19:10571732A>T		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1418A>T	19.37:g.10571732A>T	ENSP00000270474:p.His473Leu					PDE4A_ENST00000352831.6_Missense_Mutation_p.H473L|PDE4A_ENST00000293683.5_Missense_Mutation_p.H447L|PDE4A_ENST00000344979.3_Missense_Mutation_p.H234L|PDE4A_ENST00000592685.1_Missense_Mutation_p.H451L|PDE4A_ENST00000440014.2_Missense_Mutation_p.H412L	p.H451L			P27815	PDE4A_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		12	1352	+			473			Catalytic.		O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	ENST00000352831.6	37	c.1352A>T	CCDS45961.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.111146	0.77210	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979;ENST00000380686	D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71	4.39	4.39	0.52855	Metal-dependent phosphohydrolase, HD domain (1);-cyclic nucleotide phosphodiesterase, conserved site (1);5&apos (3);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (3);	0.000000	0.85682	D	0.000000	D	0.96864	0.8976	H	0.97806	4.08	0.80722	D	1	D;B;D;D;D	0.89917	0.971;0.384;1.0;0.975;0.996	P;B;D;P;D	0.83275	0.635;0.138;0.996;0.788;0.918	D	0.97461	1.0034	10	0.87932	D	0	.	11.5917	0.50949	1.0:0.0:0.0:0.0	.	139;234;412;447;473	P27815-5;P27815-4;P27815-6;P27815-2;P27815	.;.;.;.;PDE4A_HUMAN	L	451;473;447;412;234;139	ENSP00000370078:H451L;ENSP00000270474:H473L;ENSP00000293683:H447L;ENSP00000394754:H412L;ENSP00000341007:H234L	ENSP00000293683:H447L	H	+	2	0	PDE4A	10432732	1.000000	0.71417	0.833000	0.33012	0.458000	0.32498	9.010000	0.93611	1.861000	0.53984	0.454000	0.30748	CAC		0.597	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451244.1			22	42	0	0	0	1	0	22	42				
RET	5979	broad.mit.edu	37	10	43615160	43615160	+	Silent	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr10:43615160C>T	ENST00000355710.3	+	14	2806	c.2574C>T	c.(2572-2574)atC>atT	p.I858I	RET_ENST00000340058.5_Silent_p.I858I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	858	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCTGGCAGATCTCACAGGGGA	0.657		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(2572-2574)atC>atT		ret proto-oncogene	Sunitinib(DB01268)						60.0	51.0	54.0					10																	43615160		2203	4300	6503	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43615160C>T	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2574C>T	10.37:g.43615160C>T						RET_ENST00000340058.5_Silent_p.I858I	p.I858I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			14	2806	+		Ovarian(717;0.0423)	858			Protein kinase.		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.2574C>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	8.979	0.974778	0.18736	.	.	ENSG00000165731	ENST00000535749	.	.	.	5.36	0.875	0.19130	.	.	.	.	.	T	0.23492	0.0568	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21999	-1.0229	5	0.02654	T	1	.	4.823	0.13400	0.2207:0.4355:0.0:0.3438	.	.	.	.	F	434	.	ENSP00000445963:L434F	L	+	1	0	RET	42935166	0.989000	0.36119	0.996000	0.52242	0.814000	0.46013	0.322000	0.19576	0.264000	0.21851	0.313000	0.20887	CTC		0.657	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		22	40	0	0	0	1	0	22	40				
PTPRG	5793	broad.mit.edu	37	3	62204554	62204554	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr3:62204554C>T	ENST00000474889.1	+	13	2562	c.2185C>T	c.(2185-2187)Cgc>Tgc	p.R729C	PTPRG_ENST00000295874.10_Missense_Mutation_p.R729C	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	729					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AATGATAAGCCGCCCTGCTCC	0.507																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(2185-2187)Cgc>Tgc		protein tyrosine phosphatase, receptor type, G							224.0	180.0	195.0					3																	62204554		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62204554C>T	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2185C>T	3.37:g.62204554C>T	ENSP00000418112:p.Arg729Cys					PTPRG_ENST00000295874.10_Missense_Mutation_p.R729C	p.R729C	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	13	2562	+			729					B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.2185C>T	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983003	0.74474	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.54866	0.55;0.63	5.77	5.77	0.91146	.	0.065110	0.64402	D	0.000006	T	0.52613	0.1745	L	0.51422	1.61	0.54753	D	0.99998	P;D;D	0.61697	0.802;0.99;0.989	B;P;P	0.49953	0.18;0.627;0.54	T	0.56932	-0.7897	10	0.72032	D	0.01	.	7.8107	0.29230	0.2051:0.7158:0.0:0.0791	.	4;729;729	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	C	729	ENSP00000418112:R729C;ENSP00000295874:R729C	ENSP00000295874:R729C	R	+	1	0	PTPRG	62179594	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.273000	0.43381	2.729000	0.93468	0.467000	0.42956	CGC		0.507	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		36	21	0	0	0	1	0	36	21				
MAB21L2	10586	broad.mit.edu	37	4	151504541	151504541	+	Silent	SNP	G	G	A	rs146043387		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr4:151504541G>A	ENST00000317605.4	+	1	1465	c.360G>A	c.(358-360)tcG>tcA	p.S120S	LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000503716.1_5'Flank|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000510413.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	120					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TCACGGCGTCGGGCTATCTCT	0.627																																						ENST00000317605.4																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21						c.(358-360)tcG>tcA		mab-21-like 2 (C. elegans)							106.0	102.0	103.0					4																	151504541		2203	4300	6503	SO:0001819	synonymous_variant	10586				nervous system development	nucleus		g.chr4:151504541G>A	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.360G>A	4.37:g.151504541G>A						LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron	p.S120S	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN		GBM - Glioblastoma multiforme(119;0.159)	1	1465	+	all_hematologic(180;0.151)		120					B3KP37|Q9HBA7	Silent	SNP	ENST00000317605.4	37	c.360G>A	CCDS3774.1																																																																																				0.627	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		44	65	0	0	0	1	0	44	65				
ILF3	3609	broad.mit.edu	37	19	10798292	10798292	+	Missense_Mutation	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr19:10798292A>G	ENST00000590261.1	+	17	2330	c.2330A>G	c.(2329-2331)tAt>tGt	p.Y777C	ILF3_ENST00000318511.3_Missense_Mutation_p.Y777C|ILF3_ENST00000588657.1_Missense_Mutation_p.Y781C|ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000449870.1_Missense_Mutation_p.Y781C			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	777	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CAGAAAGGCTATAACCATGGA	0.582																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2341-2343)tAt>tGt		interleukin enhancer binding factor 3, 90kDa							48.0	53.0	52.0					19																	10798292		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10798292A>G	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2330A>G	19.37:g.10798292A>G	ENSP00000468156:p.Tyr777Cys					ILF3_ENST00000588657.1_Missense_Mutation_p.Y781C|ILF3_ENST00000590261.1_Missense_Mutation_p.Y777C|ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000318511.3_Missense_Mutation_p.Y777C	p.Y781C	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		18	2659	+			777			Interaction with PRMT1.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.2342A>G	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.615763	0.46631	.	.	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.14766	2.49;2.48	5.21	5.21	0.72293	.	0.228808	0.38778	N	0.001577	T	0.24198	0.0586	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.68353	0.957;0.907	T	0.01925	-1.1246	10	0.87932	D	0	.	14.2001	0.65696	1.0:0.0:0.0:0.0	.	781;777	G5E9M5;Q12906	.;ILF3_HUMAN	C	781;777	ENSP00000404121:Y781C;ENSP00000315205:Y777C	ENSP00000315205:Y777C	Y	+	2	0	ILF3	10659292	0.999000	0.42202	0.979000	0.43373	0.868000	0.49771	4.655000	0.61476	2.187000	0.69744	0.533000	0.62120	TAT		0.582	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			22	38	0	0	0	1	0	22	38				
MAP3K14-AS1	100133991	broad.mit.edu	37	17	43345029	43345029	+	RNA	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:43345029C>T	ENST00000585780.1	+	0	2078				MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA					MAP3K14 antisense RNA 1																		AAAGCTCTCTCGGCTGGGCAT	0.607																																						ENST00000344686.2																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27								mitogen-activated protein kinase kinase kinase 14							98.0	106.0	103.0					17																	43345029		1906	4123	6029			9020				cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr17:43345029C>T	AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"""Long non-coding RNAs"""	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43345029C>T						MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA				Q99558	M3K14_HUMAN			0	2175	-									RNA	SNP	ENST00000585780.1	37																																																																																						0.607	MAP3K14-AS1-008	KNOWN	basic	antisense	antisense	OTTHUMT00000450941.1	NR_024434		5	136	0	0	0	1	0	5	136				
SCN7A	6332	broad.mit.edu	37	2	167328885	167328885	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:167328885A>T	ENST00000409855.1	-	5	640	c.514T>A	c.(514-516)Tca>Aca	p.S172T		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	172					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	AAGGAAAATGATCCTGCCCAG	0.343																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(514-516)Tca>Aca		sodium channel, voltage-gated, type VII, alpha subunit							49.0	50.0	50.0					2																	167328885		1880	4146	6026	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167328885A>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.514T>A	2.37:g.167328885A>T	ENSP00000386796:p.Ser172Thr						p.S172T	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			5	640	-			172						Missense_Mutation	SNP	ENST00000409855.1	37	c.514T>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	A	12.76	2.035729	0.35893	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98474	-4.95;-4.95;-4.95	5.37	-5.5	0.02576	Ion transport (1);	0.872025	0.09761	N	0.759317	D	0.95623	0.8577	L	0.43152	1.355	0.09310	N	1	B	0.30563	0.285	B	0.33846	0.171	D	0.89735	0.3929	10	0.62326	D	0.03	.	11.9478	0.52938	0.1671:0.1682:0.6647:0.0	.	172	Q01118	SCN7A_HUMAN	T	172	ENSP00000386796:S172T;ENSP00000413699:S172T;ENSP00000403846:S172T	ENSP00000259060:S172T	S	-	1	0	SCN7A	167037131	0.000000	0.05858	0.036000	0.18154	0.944000	0.59088	-0.062000	0.11674	-0.808000	0.04387	0.533000	0.62120	TCA		0.343	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			7	10	0	0	0	1	0	7	10				
SPTB	6710	broad.mit.edu	37	14	65216707	65216707	+	Missense_Mutation	SNP	A	A	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr14:65216707A>C	ENST00000556626.1	-	34	6910	c.6768T>G	c.(6766-6768)ttT>ttG	p.F2256L	SPTB_ENST00000342835.4_5'UTR|SPTB_ENST00000389722.3_Missense_Mutation_p.F2256L			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACCTCAGCTTAAAGACGTGCT	0.572																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(6766-6768)ttT>ttG		spectrin, beta, erythrocytic							153.0	122.0	133.0					14																	65216707		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65216707A>C		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000556626.1:c.6768T>G	14.37:g.65216707A>C	ENSP00000451752:p.Phe2256Leu					SPTB_ENST00000556626.1_Missense_Mutation_p.F2256L|SPTB_ENST00000342835.4_5'UTR	p.F2256L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	33	6821	-		all_lung(585;4.15e-09)	0					Q15510|Q15519	Missense_Mutation	SNP	ENST00000556626.1	37	c.6768T>G	CCDS32099.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980556	0.53827	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626	T;T;T	0.64618	-0.11;-0.11;-0.11	5.51	2.46	0.29980	.	0.132517	0.52532	D	0.000063	T	0.64338	0.2589	M	0.74546	2.27	0.80722	D	1	P;B	0.41597	0.756;0.198	P;B	0.44647	0.456;0.123	T	0.60712	-0.7209	10	0.35671	T	0.21	.	11.4503	0.50149	0.1461:0.0:0.8539:0.0	.	1075;2260	E7EV95;Q59FP5	.;.	L	2260;2256;1075;956;2256	ENSP00000374372:F2256L;ENSP00000451324:F956L;ENSP00000451752:F2256L	ENSP00000334218:F1075L	F	-	3	2	SPTB	64286460	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	2.843000	0.48238	0.182000	0.20032	-0.256000	0.11100	TTT		0.572	SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414076.1			41	54	0	0	0	1	0	41	54				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	97	0	0	0	1	0	4	97				
ARHGAP44	9912	broad.mit.edu	37	17	12799758	12799758	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:12799758C>T	ENST00000379672.5	+	3	428	c.128C>T	c.(127-129)tCc>tTc	p.S43F	ARHGAP44_ENST00000262444.9_Missense_Mutation_p.S43F|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.S43F	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	43	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						AAACAGGTGTCCCACAGCACG	0.627																																						ENST00000379672.5																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						c.(127-129)tCc>tTc		Rho GTPase activating protein 44							42.0	48.0	46.0					17																	12799758		2108	4248	6356	SO:0001583	missense	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12799758C>T		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.128C>T	17.37:g.12799758C>T	ENSP00000368994:p.Ser43Phe					ARHGAP44_ENST00000262444.9_Missense_Mutation_p.S43F|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.S43F	p.S43F	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN			3	428	+			43			BAR.		A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	c.128C>T	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317261	0.40996	.	.	ENSG00000006740	ENST00000379672;ENST00000340825	T;T	0.63580	-0.05;-0.05	5.23	4.26	0.50523	BAR (3);	0.124249	0.56097	D	0.000030	T	0.67202	0.2868	L	0.44542	1.39	0.46586	D	0.999112	D;B	0.65815	0.995;0.167	P;B	0.62184	0.899;0.271	T	0.67757	-0.5588	10	0.52906	T	0.07	.	9.6698	0.40006	0.0:0.907:0.0:0.093	.	43;43	A6NCP5;Q17R89	.;RHG44_HUMAN	F	43	ENSP00000368994:S43F;ENSP00000342566:S43F	ENSP00000342566:S43F	S	+	2	0	ARHGAP44	12740483	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	6.467000	0.73547	1.444000	0.47605	0.655000	0.94253	TCC		0.627	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859		7	10	0	0	0	1	0	7	10				
COL1A2	1278	broad.mit.edu	37	7	94038704	94038704	+	Missense_Mutation	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:94038704C>G	ENST00000297268.6	+	17	1334	c.863C>G	c.(862-864)cCa>cGa	p.P288R		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	288					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTGGGTCTTCCAGGCCTCTCC	0.483										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(862-864)cCa>cGa		collagen, type I, alpha 2	Collagenase(DB00048)						78.0	90.0	86.0					7																	94038704		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94038704C>G	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.863C>G	7.37:g.94038704C>G	ENSP00000297268:p.Pro288Arg	HNSCC(75;0.22)					p.P288R	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		17	1334	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		288					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.863C>G	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468025	0.63625	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.96885	-4.16	5.73	4.86	0.63082	.	0.182679	0.48286	D	0.000196	D	0.95010	0.8385	L	0.55834	1.745	0.44956	D	0.997972	P	0.40144	0.704	B	0.41036	0.346	D	0.95008	0.8149	10	0.66056	D	0.02	.	15.0417	0.71796	0.0:0.9319:0.0:0.0681	.	288	P08123	CO1A2_HUMAN	R	288;289	ENSP00000297268:P288R	ENSP00000297268:P288R	P	+	2	0	COL1A2	93876640	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.028000	0.57246	1.584000	0.49913	0.655000	0.94253	CCA		0.483	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		39	168	0	0	0	1	0	39	168				
CCDC140	151278	broad.mit.edu	37	2	223169080	223169080	+	Silent	SNP	A	A	G	rs377067047		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:223169080A>G	ENST00000295226.1	+	2	843	c.459A>G	c.(457-459)aaA>aaG	p.K153K		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	153										endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		agagaagaaaagagagaaaga	0.453																																						ENST00000295226.1																			0				endometrium(4)|large_intestine(1)|prostate(1)	6						c.(457-459)aaA>aaG		coiled-coil domain containing 140							8.0	10.0	9.0					2																	223169080		2099	4208	6307	SO:0001819	synonymous_variant	151278							g.chr2:223169080A>G	AK057009	CCDS2452.1	2q36.1	2008-02-05			ENSG00000163081	ENSG00000163081			26514	protein-coding gene	gene with protein product							Standard	NM_153038		Approved	FLJ32447	uc002vnb.1	Q96MF4	OTTHUMG00000133154	ENST00000295226.1:c.459A>G	2.37:g.223169080A>G							p.K153K	NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	843	+		Renal(207;0.0376)	153						Silent	SNP	ENST00000295226.1	37	c.459A>G	CCDS2452.1																																																																																				0.453	CCDC140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256854.1	NM_153038		10	8	0	0	0	1	0	10	8				
COL11A1	1301	broad.mit.edu	37	1	103544243	103544243	+	Silent	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:103544243G>C	ENST00000370096.3	-	3	771	c.459C>G	c.(457-459)ctC>ctG	p.L153L	COL11A1_ENST00000358392.2_Silent_p.L153L|COL11A1_ENST00000353414.4_Silent_p.L153L|COL11A1_ENST00000512756.1_Silent_p.L153L	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	153	Laminin G-like.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGTTCTGAAGAGGGGATAGT	0.378																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(457-459)ctC>ctG		collagen, type XI, alpha 1							82.0	87.0	85.0					1																	103544243		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103544243G>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.459C>G	1.37:g.103544243G>C						COL11A1_ENST00000353414.4_Silent_p.L153L|COL11A1_ENST00000370096.3_Silent_p.L153L|COL11A1_ENST00000512756.1_Silent_p.L153L	p.L153L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	3	776	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	153			TSP N-terminal.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.459C>G	CCDS778.1																																																																																				0.378	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		4	75	0	0	0	1	0	4	75				
CDK1	983	broad.mit.edu	37	10	62551943	62551943	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr10:62551943G>A	ENST00000395284.3	+	7	833	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	CDK1_ENST00000448257.2_Missense_Mutation_p.V231M|CDK1_ENST00000373809.2_Missense_Mutation_p.V174M|CDK1_ENST00000316629.4_Missense_Mutation_p.V174M	NM_001786.4	NP_001777.1	P06493	CDK1_HUMAN	cyclin-dependent kinase 1	231	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell aging (GO:0007569)|cell migration (GO:0016477)|cellular response to hydrogen peroxide (GO:0070301)|centrosome cycle (GO:0007098)|chromosome condensation (GO:0030261)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|pronuclear fusion (GO:0007344)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|Ras protein signal transduction (GO:0007265)|regulation of embryonic development (GO:0045995)|regulation of Schwann cell differentiation (GO:0014038)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to activity (GO:0014823)|response to amine (GO:0014075)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organic cyclic compound (GO:0014070)|response to toxic substance (GO:0009636)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|histone kinase activity (GO:0035173)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			ovary(1)	1						GTGGCCAGAAGTGGAATCTTT	0.353																																						ENST00000448257.2																			0				ovary(1)	1						c.(691-693)Gtg>Atg		cyclin-dependent kinase 1							67.0	70.0	69.0					10																	62551943		2203	4299	6502	SO:0001583	missense	983				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity	g.chr10:62551943G>A	BC014563	CCDS7260.1, CCDS44408.1	10q21.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000170312	ENSG00000170312		"""Cyclin-dependent kinases"""	1722	protein-coding gene	gene with protein product		116940	"""cell division cycle 2, G1 to S and G2 to M"""	CDC2		3553962, 19884882	Standard	NM_001786		Approved	CDC28A	uc001jld.3	P06493	OTTHUMG00000018290	ENST00000395284.3:c.691G>A	10.37:g.62551943G>A	ENSP00000378699:p.Val231Met					CDK1_ENST00000373809.2_Missense_Mutation_p.V174M|CDK1_ENST00000395284.3_Missense_Mutation_p.V231M|CDK1_ENST00000316629.4_Missense_Mutation_p.V174M	p.V231M			P06493	CDK1_HUMAN			7	892	+			231			Protein kinase.		A8K7C4|C9J497|O60764	Missense_Mutation	SNP	ENST00000395284.3	37	c.691G>A	CCDS44408.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038334	0.93630	.	.	ENSG00000170312	ENST00000395284;ENST00000316629;ENST00000448257;ENST00000373809	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.81	5.81	0.92471	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	0.57446	0.2054	L	0.41415	1.275	0.80722	D	1	D;D;D	0.63880	0.993;0.985;0.985	D;P;P	0.64506	0.926;0.849;0.849	T	0.56547	-0.7961	10	0.66056	D	0.02	-16.3595	20.0833	0.97789	0.0:0.0:1.0:0.0	.	174;237;231	P06493-2;Q5H9N4;P06493	.;.;CDK1_HUMAN	M	231;174;231;174	ENSP00000378699:V231M;ENSP00000325970:V174M;ENSP00000397973:V231M;ENSP00000362915:V174M	ENSP00000325970:V174M	V	+	1	0	CDK1	62221949	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.760000	0.98935	2.756000	0.94617	0.655000	0.94253	GTG		0.353	CDK1-007	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048211.2	NM_001786		20	51	0	0	0	1	0	20	51				
ANXA4	307	broad.mit.edu	37	2	70047948	70047948	+	Missense_Mutation	SNP	A	A	T	rs140968278	byFrequency	TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:70047948A>T	ENST00000394295.4	+	12	1149	c.901A>T	c.(901-903)Atc>Ttc	p.I301F	ANXA4_ENST00000536030.1_Missense_Mutation_p.I217F|ANXA4_ENST00000409920.1_Missense_Mutation_p.I279F	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	299					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						GTACTCGTTCATCAAGGTAGG	0.473																																						ENST00000394295.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(901-903)Atc>Ttc		annexin A4							95.0	90.0	92.0					2																	70047948		2203	4300	6503	SO:0001583	missense	307				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr2:70047948A>T	M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"""Annexins"""	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.901A>T	2.37:g.70047948A>T	ENSP00000377833:p.Ile301Phe					ANXA4_ENST00000409920.1_Missense_Mutation_p.I279F|ANXA4_ENST00000536030.1_Missense_Mutation_p.I217F	p.I301F	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN			12	1149	+			299					B4DDF9|Q96F33|Q9BWK1	Missense_Mutation	SNP	ENST00000394295.4	37	c.901A>T	CCDS1894.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.950192	0.92660	.	.	ENSG00000196975	ENST00000409920;ENST00000394295;ENST00000536030	T;T;T	0.07114	3.22;3.22;3.22	5.64	5.64	0.86602	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.44201	0.1282	H	0.97540	4.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.63120	-0.6708	9	.	.	.	.	13.8074	0.63240	1.0:0.0:0.0:0.0	.	299;279;301	P09525;Q6P452;Q6LES2	ANXA4_HUMAN;.;.	F	279;301;217	ENSP00000386756:I279F;ENSP00000377833:I301F;ENSP00000441931:I217F	.	I	+	1	0	ANXA4	69901452	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.904000	0.92590	2.152000	0.67230	0.528000	0.53228	ATC		0.473	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251848.2	NM_001153		54	40	0	0	0	1	0	54	40				
CUL5	8065	broad.mit.edu	37	11	107965182	107965182	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:107965182C>A	ENST00000393094.2	+	14	2124	c.1508C>A	c.(1507-1509)tCt>tAt	p.S503Y		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	503					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ATAAAAGTATCTGAAGATTTG	0.284																																						ENST00000393094.2																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23						c.(1507-1509)tCt>tAt		cullin 5							42.0	44.0	43.0					11																	107965182		2201	4285	6486	SO:0001583	missense	8065				cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding	g.chr11:107965182C>A	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.1508C>A	11.37:g.107965182C>A	ENSP00000376808:p.Ser503Tyr						p.S503Y	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)	14	2124	+		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	503					A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	37	c.1508C>A	CCDS31668.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869866	0.91587	.	.	ENSG00000166266	ENST00000393094	T	0.80994	-1.44	5.67	5.67	0.87782	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.92126	0.7504	M	0.90542	3.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92840	0.6288	10	0.87932	D	0	-13.3267	20.1313	0.98000	0.0:1.0:0.0:0.0	.	503	Q93034	CUL5_HUMAN	Y	503	ENSP00000376808:S503Y	ENSP00000376808:S503Y	S	+	2	0	CUL5	107470392	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.419000	0.80179	2.837000	0.97791	0.655000	0.94253	TCT		0.284	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1			76	39	1	0	5.02048e-33	1	5.49464e-33	76	39				
ACAP1	9744	broad.mit.edu	37	17	7249724	7249724	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:7249724G>A	ENST00000158762.3	+	12	1127	c.921G>A	c.(919-921)gtG>gtA	p.V307V		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	307	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CTGTGACTGTGGTGGTGGATG	0.587											OREG0024135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000158762.3																			0				NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(919-921)gtG>gtA		ArfGAP with coiled-coil, ankyrin repeat and PH domains 1							140.0	122.0	128.0					17																	7249724		2203	4300	6503	SO:0001819	synonymous_variant	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7249724G>A	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.921G>A	17.37:g.7249724G>A			OREG0024135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640		p.V307V	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN			12	1127	+			307			PH.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.		Q53XN9	Silent	SNP	ENST00000158762.3	37	c.921G>A	CCDS11101.1																																																																																				0.587	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		5	112	0	0	0	1	0	5	112				
MICU1	10367	broad.mit.edu	37	10	74267999	74267999	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr10:74267999G>A	ENST00000361114.5	-	6	662	c.566C>T	c.(565-567)gCt>gTt	p.A189V	MICU1_ENST00000401998.3_Missense_Mutation_p.A189V|MICU1_ENST00000398763.4_5'UTR|MICU1_ENST00000398761.4_Missense_Mutation_p.A191V|MICU1_ENST00000418483.2_Intron	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	189					calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										GCCTTCATCAGCAAATTTTTC	0.338																																						ENST00000398761.4																			0											c.(571-573)gCt>gTt		mitochondrial calcium uptake 1							58.0	54.0	55.0					10																	74267999		1813	4075	5888	SO:0001583	missense	10367				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr10:74267999G>A	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"""EF-hand domain containing"""	1530	protein-coding gene	gene with protein product		605084	"""calcium binding atopy-related autoantigen 1"""	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.566C>T	10.37:g.74267999G>A	ENSP00000354415:p.Ala189Val					MICU1_ENST00000418483.2_Intron|MICU1_ENST00000361114.5_Missense_Mutation_p.A189V|MICU1_ENST00000398763.4_5'UTR|MICU1_ENST00000401998.3_Missense_Mutation_p.A189V	p.A191V			Q9BPX6	MICU1_HUMAN			7	704	-			189					A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	37	c.572C>T	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756711	0.69648	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998	T;T;T	0.80653	-1.34;-1.4;-1.34	5.19	5.19	0.71726	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78755	0.4333	L	0.59436	1.845	0.80722	D	1	B	0.15473	0.013	B	0.17098	0.017	T	0.73154	-0.4072	10	0.26408	T	0.33	.	18.6691	0.91504	0.0:0.0:1.0:0.0	.	189	Q9BPX6	MICU1_HUMAN	V	189;191;189	ENSP00000354415:A189V;ENSP00000381745:A191V;ENSP00000384068:A189V	ENSP00000354415:A189V	A	-	2	0	MICU1	73938005	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.440000	0.97547	2.571000	0.86741	0.467000	0.42956	GCT		0.338	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		3	5	0	0	0	1	0	3	5				
RPS25	6230	broad.mit.edu	37	11	118886642	118886642	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr11:118886642G>A	ENST00000527673.1	-	4	696	c.291C>T	c.(289-291)atC>atT	p.I97I	TRAPPC4_ENST00000533058.1_5'Flank|TRAPPC4_ENST00000533632.1_5'Flank|TRAPPC4_ENST00000528230.1_5'Flank|TRAPPC4_ENST00000359005.4_5'Flank|RPS25_ENST00000528547.1_5'Flank|TRAPPC4_ENST00000525303.1_5'Flank|TRAPPC4_ENST00000434101.2_5'Flank	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	97					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit assembly (GO:0000028)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		AAACCAGTTTGATAAGTCCTA	0.453																																						ENST00000527673.1																			0				endometrium(1)	1						c.(289-291)atC>atT		ribosomal protein S25							122.0	118.0	119.0					11																	118886642		2200	4295	6495	SO:0001819	synonymous_variant	6230				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding	g.chr11:118886642G>A	M64716	CCDS8406.1	11q23.3	2011-04-06			ENSG00000118181	ENSG00000118181		"""S ribosomal proteins"""	10413	protein-coding gene	gene with protein product		180465				1748303	Standard	NM_001028		Approved	S25	uc001pun.2	P62851	OTTHUMG00000166350	ENST00000527673.1:c.291C>T	11.37:g.118886642G>A							p.I97I	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)	4	696	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)	97					B2R4M7|P25111	Silent	SNP	ENST00000527673.1	37	c.291C>T	CCDS8406.1																																																																																				0.453	RPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389324.1	NM_001028		49	34	0	0	0	1	0	49	34				
TMEM248	55069	broad.mit.edu	37	7	66418288	66418288	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:66418288T>C	ENST00000341567.4	+	6	1111	c.856T>C	c.(856-858)Tgc>Cgc	p.C286R		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	286						integral component of membrane (GO:0016021)											AACAATGTTTTGCTATGCTGT	0.423																																						ENST00000341567.4																			0											c.(856-858)Tgc>Cgc		transmembrane protein 248							185.0	171.0	176.0					7																	66418288		2203	4300	6503	SO:0001583	missense	55069							g.chr7:66418288T>C		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.856T>C	7.37:g.66418288T>C	ENSP00000340668:p.Cys286Arg						p.C286R	NM_017994.4	NP_060464.1					6	1111	+								Q53H07|Q96FR2	Missense_Mutation	SNP	ENST00000341567.4	37	c.856T>C	CCDS5536.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.623430	0.87460	.	.	ENSG00000106609	ENST00000341567	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.66597	0.2805	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	T	0.69774	-0.5054	9	0.72032	D	0.01	-11.7391	15.2769	0.73748	0.0:0.0:0.0:1.0	.	286	Q9NWD8	CG042_HUMAN	R	286	.	ENSP00000340668:C286R	C	+	1	0	C7orf42	66055723	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.634000	0.83273	2.199000	0.70637	0.533000	0.62120	TGC		0.423	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		66	186	0	0	0	1	0	66	186				
ABCB4	5244	broad.mit.edu	37	7	87072646	87072646	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:87072646C>T	ENST00000265723.4	-	12	1456	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	ABCB4_ENST00000545634.1_Missense_Mutation_p.D449N|ABCB4_ENST00000453593.1_Missense_Mutation_p.D449N|ABCB4_ENST00000358400.3_Missense_Mutation_p.D449N|ABCB4_ENST00000359206.3_Missense_Mutation_p.D449N	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	449	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GTGCCCTCATCAGGGTCATAG	0.507																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1345-1347)Gat>Aat		ATP-binding cassette, sub-family B (MDR/TAP), member 4							190.0	183.0	185.0					7																	87072646		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87072646C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1345G>A	7.37:g.87072646C>T	ENSP00000265723:p.Asp449Asn					ABCB4_ENST00000545634.1_Missense_Mutation_p.D449N|ABCB4_ENST00000453593.1_Missense_Mutation_p.D449N|ABCB4_ENST00000359206.3_Missense_Mutation_p.D449N|ABCB4_ENST00000358400.3_Missense_Mutation_p.D449N	p.D449N	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			12	1456	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		449			ABC transporter 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.1345G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	c	11.83	1.754626	0.31046	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33	4.88	-2.52	0.06346	ATPase, AAA+ type, core (1);ABC transporter-like (2);	1.353820	0.04531	N	0.386272	D	0.87787	0.6265	L	0.33710	1.025	0.09310	N	1	B;B;B	0.19706	0.017;0.03;0.038	B;B;B	0.25759	0.026;0.038;0.063	T	0.74309	-0.3707	10	0.18276	T	0.48	-0.219	7.6992	0.28613	0.0:0.1726:0.2039:0.6234	.	449;449;449	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	N	449	ENSP00000352135:D449N;ENSP00000351172:D449N;ENSP00000265723:D449N;ENSP00000392983:D449N;ENSP00000437465:D449N	ENSP00000265723:D449N	D	-	1	0	ABCB4	86910582	0.000000	0.05858	0.016000	0.15963	0.767000	0.43475	-0.351000	0.07711	-0.142000	0.11354	0.467000	0.42956	GAT		0.507	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		197	654	0	0	0	1	0	197	654				
GREB1	9687	broad.mit.edu	37	2	11756807	11756807	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:11756807C>T	ENST00000381486.2	+	21	3673	c.3373C>T	c.(3373-3375)Cac>Tac	p.H1125Y	GREB1_ENST00000396123.1_Missense_Mutation_p.H123Y|GREB1_ENST00000234142.5_Missense_Mutation_p.H1125Y	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1125	Ser-rich.					integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GTCCCGCTCCCACGACTCAGC	0.537																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(3373-3375)Cac>Tac		growth regulation by estrogen in breast cancer 1							181.0	200.0	194.0					2																	11756807		1992	4165	6157	SO:0001583	missense	9687					integral to membrane		g.chr2:11756807C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3373C>T	2.37:g.11756807C>T	ENSP00000370896:p.His1125Tyr					GREB1_ENST00000396123.1_Missense_Mutation_p.H123Y|GREB1_ENST00000234142.5_Missense_Mutation_p.H1125Y	p.H1125Y	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	21	3673	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1125			Ser-rich.		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.3373C>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335456	0.41398	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.23348	3.24;3.24;1.91	5.08	5.08	0.68730	.	0.313429	0.33792	N	0.004545	T	0.28732	0.0712	L	0.56769	1.78	0.43714	D	0.996182	P	0.40731	0.728	B	0.37239	0.244	T	0.14924	-1.0455	10	0.72032	D	0.01	-14.6398	16.6317	0.85035	0.0:1.0:0.0:0.0	.	1125	Q4ZG55	GREB1_HUMAN	Y	1125;1125;123	ENSP00000370896:H1125Y;ENSP00000234142:H1125Y;ENSP00000379429:H123Y	ENSP00000234142:H1125Y	H	+	1	0	GREB1	11674258	0.967000	0.33354	0.982000	0.44146	0.341000	0.28922	3.469000	0.53093	2.349000	0.79799	0.563000	0.77884	CAC		0.537	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		73	276	0	0	0	1	0	73	276				
MOB1B	92597	broad.mit.edu	37	4	71844928	71844928	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr4:71844928C>A	ENST00000309395.2	+	5	694	c.493C>A	c.(493-495)Cag>Aag	p.Q165K	MOB1B_ENST00000511449.1_Intron|MOB1B_ENST00000396051.2_Missense_Mutation_p.Q170K	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOB1B_HUMAN	MOB kinase activator 1B	165					hippo signaling (GO:0035329)|positive regulation of phosphorylation (GO:0042327)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	kinase activator activity (GO:0019209)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)										CATTTATCATCAGCATTTTGA	0.398																																						ENST00000309395.2																			0											c.(493-495)Cag>Aag		MOB kinase activator 1B							159.0	158.0	158.0					4																	71844928		2203	4300	6503	SO:0001583	missense	92597				hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding	g.chr4:71844928C>A	BC038112	CCDS34002.1, CCDS58903.1	4q13.3	2011-09-28	2011-09-28	2011-09-27	ENSG00000173542	ENSG00000173542		"""MOB kinase activators"""	29801	protein-coding gene	gene with protein product	"""Mob4A protein"""	609282	"""MOB1, Mps One Binder kinase activator-like 1A (yeast)"", ""MOB1 Mps One Binder homolog B (yeast)"""	MOBKL1A		15067004	Standard	NM_173468		Approved	MOB4A	uc003hfw.3	Q7L9L4	OTTHUMG00000160844	ENST00000309395.2:c.493C>A	4.37:g.71844928C>A	ENSP00000310189:p.Gln165Lys					MOB1B_ENST00000396051.2_Missense_Mutation_p.Q170K|MOB1B_ENST00000511449.1_Intron	p.Q165K	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOL1A_HUMAN			5	694	+			165					B2R8U6|B4DRY3|Q8IY23	Missense_Mutation	SNP	ENST00000309395.2	37	c.493C>A	CCDS34002.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.906488	0.72868	.	.	ENSG00000173542	ENST00000309395;ENST00000396051	.	.	.	5.38	5.38	0.77491	.	0.159018	0.56097	D	0.000021	T	0.58991	0.2161	L	0.42686	1.345	0.80722	D	1	B;B	0.24258	0.1;0.059	B;B	0.23419	0.046;0.046	T	0.57963	-0.7720	9	0.62326	D	0.03	-33.2655	19.1189	0.93353	0.0:1.0:0.0:0.0	.	170;165	B4DRY3;Q7L9L4	.;MOB1B_HUMAN	K	165;170	.	ENSP00000310189:Q165K	Q	+	1	0	MOBKL1A	72063792	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.511000	0.84671	0.561000	0.74099	CAG		0.398	MOB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362634.1	NM_173468		6	143	1	0	0.248553	1	0.248553	6	143				
WRN	7486	broad.mit.edu	37	8	30924659	30924659	+	Silent	SNP	C	C	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr8:30924659C>A	ENST00000298139.5	+	6	864	c.615C>A	c.(613-615)ctC>ctA	p.L205L		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	205	3'-5' exonuclease.|Interaction with WRNIP1. {ECO:0000250}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AATTTCCTCTCACTGAGGACC	0.388			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(613-615)ctC>ctA	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							83.0	73.0	76.0					8																	30924659		2203	4300	6503	SO:0001819	synonymous_variant	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30924659C>A		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.615C>A	8.37:g.30924659C>A							p.L205L	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	6	864	+		Breast(100;0.195)	205			3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).		A1KYY9	Silent	SNP	ENST00000298139.5	37	c.615C>A	CCDS6082.1																																																																																				0.388	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			38	22	1	0	7.63091e-17	1	8.0822e-17	38	22				
TRRAP	8295	broad.mit.edu	37	7	98592366	98592366	+	Missense_Mutation	SNP	G	G	A	rs545487361		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:98592366G>A	ENST00000359863.4	+	66	10371	c.10162G>A	c.(10162-10164)Gtc>Atc	p.V3388I	TRRAP_ENST00000446306.3_Missense_Mutation_p.V3377I|TRRAP_ENST00000355540.3_Missense_Mutation_p.V3359I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3388					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGTGTCCAACGTCTCGACCAT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		17371	0.0		0.0	False		,,,				2504	0.001					ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(10162-10164)Gtc>Atc		transformation/transcription domain-associated protein							161.0	157.0	158.0					7																	98592366		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98592366G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.10162G>A	7.37:g.98592366G>A	ENSP00000352925:p.Val3388Ile					TRRAP_ENST00000355540.3_Missense_Mutation_p.V3359I|TRRAP_ENST00000446306.3_Missense_Mutation_p.V3377I	p.V3388I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		66	10371	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3388					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.10162G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228094	0.58777	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.03124	4.04;4.04	5.29	4.41	0.53225	.	0.065823	0.64402	D	0.000014	T	0.04137	0.0115	L	0.50333	1.59	0.58432	D	0.999999	P;B;B	0.37141	0.584;0.088;0.316	B;B;B	0.25884	0.064;0.008;0.027	T	0.51100	-0.8748	10	0.30854	T	0.27	.	13.8128	0.63273	0.0742:0.0:0.9258:0.0	.	3359;3116;3388	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	I	3388;3359;3376	ENSP00000352925:V3388I;ENSP00000347733:V3359I	ENSP00000347733:V3359I	V	+	1	0	TRRAP	98430302	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.869000	0.99810	1.212000	0.43366	0.462000	0.41574	GTC		0.567	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		18	475	0	0	0	1	0	18	475				
CEP192	55125	broad.mit.edu	37	18	13100341	13100341	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr18:13100341A>T	ENST00000325971.8	+	36	6506	c.4913A>T	c.(4912-4914)cAa>cTa	p.Q1638L	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Missense_Mutation_p.Q2234L|CEP192_ENST00000430049.2_Missense_Mutation_p.Q1759L			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1638					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GATTTAACTCAAGTGGAACTT	0.358																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6700-6702)cAa>cTa		centrosomal protein 192kDa							65.0	63.0	63.0					18																	13100341		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13100341A>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.4913A>T	18.37:g.13100341A>T	ENSP00000317156:p.Gln1638Leu					CEP192_ENST00000325971.8_Missense_Mutation_p.Q1638L|CEP192_ENST00000430049.2_Missense_Mutation_p.Q1759L|CEP192_ENST00000540847.2_3'UTR	p.Q2234L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			38	6781	+			1829					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.6701A>T		.	.	.	.	.	.	.	.	.	.	A	7.409	0.634387	0.14322	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.05855	3.38;3.39;3.39	5.52	3.07	0.35406	.	0.274579	0.35407	N	0.003228	T	0.05456	0.0144	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.24721	0.11;0.025;0.01;0.004	B;B;B;B	0.24701	0.055;0.025;0.016;0.007	T	0.34551	-0.9824	10	0.41790	T	0.15	-7.3545	7.9044	0.29752	0.4589:0.4094:0.0:0.1317	.	1759;2234;238;836	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	L	2234;1638;1638;1759;238	ENSP00000427550:Q2234L;ENSP00000317156:Q1638L;ENSP00000389190:Q1759L	ENSP00000317156:Q1638L	Q	+	2	0	CEP192	13090341	0.028000	0.19301	0.062000	0.19696	0.152000	0.21847	2.770000	0.47662	0.444000	0.26612	0.533000	0.62120	CAA		0.358	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		36	68	0	0	0	1	0	36	68				
KIDINS220	57498	broad.mit.edu	37	2	8958868	8958868	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:8958868T>C	ENST00000256707.3	-	3	345	c.164A>G	c.(163-165)aAg>aGg	p.K55R	KIDINS220_ENST00000418530.1_Missense_Mutation_p.K13R|KIDINS220_ENST00000319688.5_Missense_Mutation_p.K55R|KIDINS220_ENST00000473731.1_Missense_Mutation_p.K55R|KIDINS220_ENST00000427284.1_Missense_Mutation_p.K55R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	55					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATTAATTCCTTCACTATTTC	0.333																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(163-165)aAg>aGg		kinase D-interacting substrate, 220kDa							131.0	126.0	127.0					2																	8958868		1830	4087	5917	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8958868T>C	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.164A>G	2.37:g.8958868T>C	ENSP00000256707:p.Lys55Arg					KIDINS220_ENST00000319688.5_Missense_Mutation_p.K55R|KIDINS220_ENST00000473731.1_Missense_Mutation_p.K55R|KIDINS220_ENST00000418530.1_Missense_Mutation_p.K13R|KIDINS220_ENST00000427284.1_Missense_Mutation_p.K55R	p.K55R	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			3	345	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		55					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.164A>G	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	T	14.06	2.423600	0.43020	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.25;-0.3;-0.3;-0.3	5.49	5.49	0.81192	Ankyrin repeat-containing domain (4);	0.049978	0.85682	D	0.000000	T	0.57740	0.2074	L	0.28504	0.86	0.44123	D	0.996906	B;B;B	0.27380	0.037;0.133;0.177	B;B;B	0.37198	0.092;0.138;0.243	T	0.52411	-0.8579	10	0.10377	T	0.69	.	14.5693	0.68202	0.0:0.0:0.0:1.0	.	55;13;55	B4DK94;Q9ULH0-2;Q9ULH0	.;.;KDIS_HUMAN	R	55;55;13;55;55;55	ENSP00000256707:K55R;ENSP00000411849:K55R;ENSP00000414923:K13R;ENSP00000418974:K55R;ENSP00000419964:K55R;ENSP00000319947:K55R	ENSP00000256707:K55R	K	-	2	0	KIDINS220	8876319	1.000000	0.71417	0.969000	0.41365	0.990000	0.78478	7.125000	0.77193	2.069000	0.61940	0.533000	0.62120	AAG		0.333	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		57	97	0	0	0	1	0	57	97				
KRT72	140807	broad.mit.edu	37	12	52985358	52985358	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr12:52985358C>T	ENST00000537672.2	-	5	863	c.853G>A	c.(853-855)Gac>Aac	p.D285N	KRT72_ENST00000398066.3_Missense_Mutation_p.D97N|KRT72_ENST00000293745.2_Missense_Mutation_p.D285N|KRT72_ENST00000354310.4_Missense_Mutation_p.D285N	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	285	Linker 12.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CGGTTGTTGTCCATTGACAGG	0.577																																						ENST00000293745.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36						c.(853-855)Gac>Aac		keratin 72							164.0	134.0	144.0					12																	52985358		2203	4300	6503	SO:0001583	missense	140807					keratin filament	structural molecule activity	g.chr12:52985358C>T	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.853G>A	12.37:g.52985358C>T	ENSP00000441160:p.Asp285Asn					KRT72_ENST00000398066.3_Missense_Mutation_p.D97N|KRT72_ENST00000354310.4_Missense_Mutation_p.D285N|KRT72_ENST00000537672.2_Missense_Mutation_p.D285N	p.D285N	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	5	938	-			285			Linker 12.|Rod.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	c.853G>A	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353662	0.95830	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	T;T;D;T	0.90197	-1.07;-1.07;-2.63;-1.07	4.33	4.33	0.51752	Filament (1);	0.000000	0.56097	D	0.000036	D	0.97216	0.9090	H	0.97983	4.12	0.52501	D	0.999958	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.981	D	0.98485	1.0607	10	0.87932	D	0	.	18.141	0.89639	0.0:1.0:0.0:0.0	.	285;285	B4DEI8;Q14CN4	.;K2C72_HUMAN	N	285;285;285;97	ENSP00000441160:D285N;ENSP00000293745:D285N;ENSP00000346269:D285N;ENSP00000446151:D97N	ENSP00000293745:D285N	D	-	1	0	KRT72	51271625	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.827000	0.69300	2.715000	0.92844	0.655000	0.94253	GAC		0.577	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		25	40	0	0	0	1	0	25	40				
WASH6P	653440	broad.mit.edu	37	X	155255062	155255062	+	RNA	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chrX:155255062C>G	ENST00000461007.1	+	0	3978				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CACCTTCCCCCCCAGACCCAG	0.627																																						ENST00000285718.7																			0																																																			653440							g.chrX:155255062C>G	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155255062C>G						WASH6P_ENST00000461007.1_RNA								0	1367	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.627	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		5	61	0	0	0	1	0	5	61				
SMCR8	140775	broad.mit.edu	37	17	18220876	18220876	+	Missense_Mutation	SNP	C	C	A	rs148166987	byFrequency	TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:18220876C>A	ENST00000406438.3	+	1	2253	c.1773C>A	c.(1771-1773)agC>agA	p.S591R	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	591						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GGAAGGAGAGCGATGGTCAGT	0.582																																						ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1771-1773)agC>agA		Smith-Magenis syndrome chromosome region, candidate 8							68.0	72.0	71.0					17																	18220876		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18220876C>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.1773C>A	17.37:g.18220876C>A	ENSP00000385025:p.Ser591Arg						p.S591R	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			1	2253	+			591					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.1773C>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	C	2.458	-0.324732	0.05350	.	.	ENSG00000176994	ENST00000406438	T	0.51574	0.7	5.63	-8.54	0.00912	.	0.315311	0.39146	N	0.001459	T	0.28962	0.0719	L	0.27053	0.805	0.09310	N	1	P	0.34780	0.468	B	0.32022	0.139	T	0.06716	-1.0811	10	0.66056	D	0.02	-24.8197	17.449	0.87587	0.0:0.6159:0.0:0.3841	.	591	Q8TEV9	SMCR8_HUMAN	R	591	ENSP00000385025:S591R	ENSP00000385025:S591R	S	+	3	2	SMCR8	18161601	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-1.809000	0.01731	-1.807000	0.01236	-1.809000	0.00614	AGC		0.582	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		48	53	1	0	3.77016e-25	1	4.05859e-25	48	53				
SAMD9L	219285	broad.mit.edu	37	7	92762885	92762885	+	Silent	SNP	G	G	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr7:92762885G>T	ENST00000318238.4	-	5	3616	c.2400C>A	c.(2398-2400)ctC>ctA	p.L800L	SAMD9L_ENST00000411955.1_Silent_p.L800L|SAMD9L_ENST00000437805.1_Silent_p.L800L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	800					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CATCCACAAGGAGAAGCACAG	0.373																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(2398-2400)ctC>ctA		sterile alpha motif domain containing 9-like							97.0	94.0	95.0					7																	92762885		2203	4300	6503	SO:0001819	synonymous_variant	219285							g.chr7:92762885G>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2400C>A	7.37:g.92762885G>T						SAMD9L_ENST00000411955.1_Silent_p.L800L|SAMD9L_ENST00000437805.1_Silent_p.L800L	p.L800L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3616	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		800					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.2400C>A	CCDS34681.1																																																																																				0.373	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		43	182	1	0	1.00001e-27	1	1.0884e-27	43	182				
ZNF274	10782	broad.mit.edu	37	19	58698313	58698313	+	Splice_Site	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr19:58698313G>A	ENST00000597818.1	+	4	348		c.e4-1		ZNF274_ENST00000326804.4_Splice_Site|ZNF274_ENST00000345813.3_Intron|ZNF274_ENST00000424679.2_Intron			Q96GC6	ZN274_HUMAN	zinc finger protein 274						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CCTTTGAGCAGAACATCAGCT	0.502																																						ENST00000326804.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21						c.e4-1		zinc finger protein 274							42.0	42.0	42.0					19																	58698313		1932	4146	6078	SO:0001630	splice_region_variant	10782				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:58698313G>A	AB029149	CCDS74473.1, CCDS74474.1, CCDS74475.1, CCDS74476.1	19q13.43	2013-01-09				ENSG00000171606		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13068	protein-coding gene	gene with protein product		605467				10777669	Standard	NM_133502		Approved	ZKSCAN19, ZSCAN51	uc002qrs.1	Q96GC6		ENST00000597818.1:c.349-1G>A	19.37:g.58698313G>A						ZNF274_ENST00000597818.1_Splice_Site|ZNF274_ENST00000345813.3_Intron|ZNF274_ENST00000424679.2_Intron		NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)	4	619	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)						Q53XU4|Q6MZG1|Q8WY37|Q8WY38|Q92969|Q9UII0|Q9UII1	Splice_Site	SNP	ENST00000597818.1	37			.	.	.	.	.	.	.	.	.	.	G	17.18	3.324020	0.60634	.	.	ENSG00000171606	ENST00000326804	.	.	.	4.37	4.37	0.52481	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7266	0.57174	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF274	63390125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.819000	0.62664	2.714000	0.92807	0.563000	0.77884	.		0.502	ZNF274-002	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000466736.1	NM_133502	Intron	8	22	0	0	0	1	0	8	22				
TAT	6898	broad.mit.edu	37	16	71605536	71605536	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr16:71605536G>C	ENST00000355962.4	-	7	865	c.732C>G	c.(730-732)atC>atG	p.I244M	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	244					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	CATCAGCTAAGATGGGGACAC	0.348																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)	ENST00000355962.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29						c.(730-732)atC>atG		tyrosine aminotransferase	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)						96.0	91.0	93.0					16																	71605536		2198	4300	6498	SO:0001583	missense	6898				2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:71605536G>C		CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.732C>G	16.37:g.71605536G>C	ENSP00000348234:p.Ile244Met					RP11-432I5.1_ENST00000561529.1_RNA	p.I244M	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN		Kidney(780;0.0157)	7	865	-		Ovarian(137;0.125)	244					B2R8I1|D3DWS2	Missense_Mutation	SNP	ENST00000355962.4	37	c.732C>G	CCDS10903.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390562	0.62066	.	.	ENSG00000198650	ENST00000355962	D	0.90261	-2.64	5.63	1.56	0.23342	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.090181	0.64402	D	0.000001	D	0.94768	0.8311	M	0.89214	3.015	0.80722	D	1	D	0.63880	0.993	D	0.76071	0.987	D	0.93338	0.6707	10	0.87932	D	0	-21.5502	8.5225	0.33285	0.3559:0.0:0.6441:0.0	.	244	P17735	ATTY_HUMAN	M	244	ENSP00000348234:I244M	ENSP00000348234:I244M	I	-	3	3	TAT	70163037	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	1.173000	0.31920	0.338000	0.23692	0.650000	0.86243	ATC		0.348	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1			18	51	0	0	0	1	0	18	51				
SMYD1	150572	broad.mit.edu	37	2	88387594	88387594	+	Splice_Site	SNP	G	G	C			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:88387594G>C	ENST00000419482.2	+	3	613	c.528G>C	c.(526-528)gtG>gtC	p.V176V	SMYD1_ENST00000444564.2_Splice_Site_p.V176V|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	176	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TCTTCGGAGTGGTAGGCCCCC	0.587																																						ENST00000419482.2																			0				NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.e3+1		SET and MYND domain containing 1							94.0	56.0	69.0					2																	88387594		2203	4300	6503	SO:0001630	splice_region_variant	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88387594G>C	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.528+1G>C	2.37:g.88387594G>C						SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000444564.2_Splice_Site_p.V176_splice	p.V176_splice	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN			3	613	+			176			SET.		A0AV30|A6NE13	Splice_Site	SNP	ENST00000419482.2	37	c.528_splice	CCDS33240.1																																																																																				0.587	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915	Silent	9	17	0	0	0	1	0	9	17				
CUX2	23316	broad.mit.edu	37	12	111758298	111758298	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr12:111758298G>A	ENST00000261726.6	+	17	2639	c.2485G>A	c.(2485-2487)Gag>Aag	p.E829K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	829					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCGCGGGGACGAGGCCCCTGT	0.771																																						ENST00000261726.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						c.(2485-2487)Gag>Aag		cut-like homeobox 2							6.0	8.0	7.0					12																	111758298		1657	3617	5274	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758298G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2485G>A	12.37:g.111758298G>A	ENSP00000261726:p.Glu829Lys						p.E829K	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN			17	2639	+			829					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.2485G>A	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	G	8.116	0.779949	0.16120	.	.	ENSG00000111249	ENST00000261726	T	0.42900	0.96	3.93	3.93	0.45458	.	0.402322	0.26369	N	0.024772	T	0.24470	0.0593	N	0.22421	0.69	0.27358	N	0.956038	B	0.30634	0.288	B	0.21708	0.036	T	0.10590	-1.0623	10	0.16420	T	0.52	-9.4163	11.3152	0.49388	0.0:0.0:0.8178:0.1822	.	829	O14529	CUX2_HUMAN	K	829	ENSP00000261726:E829K	ENSP00000261726:E829K	E	+	1	0	CUX2	110242681	1.000000	0.71417	0.339000	0.25562	0.182000	0.23217	4.092000	0.57707	1.761000	0.52028	0.306000	0.20318	GAG		0.771	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		9	10	0	0	0	1	0	9	10				
PRIMPOL	201973	broad.mit.edu	37	4	185593502	185593502	+	Silent	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr4:185593502A>G	ENST00000314970.6	+	7	1165	c.732A>G	c.(730-732)acA>acG	p.T244T	PRIMPOL_ENST00000515774.1_Silent_p.T115T|PRIMPOL_ENST00000512834.1_Silent_p.T244T|PRIMPOL_ENST00000503752.1_Silent_p.T244T	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	244					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)										AAAGCTGGACATCGAATTCAA	0.428																																						ENST00000314970.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16						c.(730-732)acA>acG									76.0	83.0	81.0					4																	185593502		2203	4300	6503	SO:0001819	synonymous_variant	201973				DNA replication, synthesis of RNA primer		DNA primase activity	g.chr4:185593502A>G	AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"""coiled-coil domain containing 111"""	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.732A>G	4.37:g.185593502A>G						CCDC111_ENST00000515774.1_Silent_p.T115T|CCDC111_ENST00000512834.1_Silent_p.T244T|CCDC111_ENST00000503752.1_Silent_p.T244T	p.T244T	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)	7	1165	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)	244					D3DP55|D6RDM1|Q5HYJ9	Silent	SNP	ENST00000314970.6	37	c.732A>G	CCDS3837.1																																																																																				0.428	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1	NM_152683		32	53	0	0	0	1	0	32	53				
UGT1A4	54657	broad.mit.edu	37	2	234627964	234627964	+	Silent	SNP	G	G	A	rs368511777		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:234627964G>A	ENST00000373409.3	+	1	541	c.498G>A	c.(496-498)tcG>tcA	p.S166S	UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	166					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	AGTACCTGTCGATTCCTGCTG	0.458																																					Melanoma(99;1011 1962 13201 26492)	ENST00000373409.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(496-498)tcG>tcA									178.0	175.0	176.0					2																	234627964		2203	4300	6503	SO:0001819	synonymous_variant	54657							g.chr2:234627964G>A	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"""UDP glucuronosyltransferases"""	12536	other	complex locus constituent		606429	"""UDP glycosyltransferase 1 family, polypeptide A4"""			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.498G>A	2.37:g.234627964G>A						UGT1A5_ENST00000373414.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron	p.S166S	NM_007120.2	NP_009051.1				Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	1	541	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B2R937|B8K288|Q5DT00	Silent	SNP	ENST00000373409.3	37	c.498G>A	CCDS33405.1																																																																																				0.458	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		97	161	0	0	0	1	0	97	161				
BANP	54971	broad.mit.edu	37	16	88017810	88017810	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr16:88017810C>T	ENST00000393207.1	+	4	504	c.283C>T	c.(283-285)Ccc>Tcc	p.P95S	BANP_ENST00000355163.5_Missense_Mutation_p.P109S|BANP_ENST00000479780.2_Missense_Mutation_p.P103S|BANP_ENST00000286122.7_Missense_Mutation_p.P95S|BANP_ENST00000538234.1_Missense_Mutation_p.P103S|BANP_ENST00000355022.4_Missense_Mutation_p.P103S|BANP_ENST00000393208.2_Missense_Mutation_p.P103S	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	95					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CATCCAGGTCCCCATGGTGGC	0.567																																						ENST00000393207.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12						c.(283-285)Ccc>Tcc		BTG3 associated nuclear protein							18.0	17.0	18.0					16																	88017810		2197	4299	6496	SO:0001583	missense	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88017810C>T	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.283C>T	16.37:g.88017810C>T	ENSP00000376902:p.Pro95Ser					BANP_ENST00000393208.2_Missense_Mutation_p.P103S|BANP_ENST00000286122.7_Missense_Mutation_p.P95S|BANP_ENST00000479780.2_Missense_Mutation_p.P103S|BANP_ENST00000355022.4_Missense_Mutation_p.P103S|BANP_ENST00000355163.5_Missense_Mutation_p.P109S|BANP_ENST00000538234.1_Missense_Mutation_p.P103S	p.P95S	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	4	504	+			95					A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Missense_Mutation	SNP	ENST00000393207.1	37	c.283C>T	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.582275	0.86748	.	.	ENSG00000172530	ENST00000439677;ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000412691;ENST00000355022;ENST00000436970;ENST00000538234;ENST00000456902;ENST00000393207	T;T;T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.52158	0.1717	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;0.993;0.999;0.996;1.0	D;D;D;D;D;D	0.91635	0.986;0.998;0.968;0.993;0.986;0.999	T	0.51325	-0.8720	10	0.38643	T	0.18	.	17.1812	0.86855	0.0:1.0:0.0:0.0	.	103;109;103;95;103;103	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	S	109;95;109;103;103;103;103;103;103;103;103;103;95	ENSP00000411479:P109S;ENSP00000286122:P95S;ENSP00000347290:P109S;ENSP00000432508:P103S;ENSP00000376903:P103S;ENSP00000390504:P103S;ENSP00000347125:P103S;ENSP00000399576:P103S;ENSP00000444352:P103S;ENSP00000410089:P103S;ENSP00000376902:P95S	ENSP00000286122:P95S	P	+	1	0	BANP	86575311	1.000000	0.71417	0.998000	0.56505	0.881000	0.50899	6.992000	0.76238	2.300000	0.77407	0.462000	0.41574	CCC		0.567	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1	NM_017869		6	11	0	0	0	1	0	6	11				
TMEM55A	55529	broad.mit.edu	37	8	92030633	92030633	+	Silent	SNP	A	A	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr8:92030633A>G	ENST00000285419.3	-	4	785	c.471T>C	c.(469-471)tgT>tgC	p.C157C	GS1-251I9.3_ENST00000517920.1_RNA	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	157						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			ATGTGTTTCCACAGTGCCCAC	0.413																																						ENST00000285419.3																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(469-471)tgT>tgC		transmembrane protein 55A							246.0	224.0	231.0					8																	92030633		2203	4300	6503	SO:0001819	synonymous_variant	55529					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr8:92030633A>G	BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.471T>C	8.37:g.92030633A>G						GS1-251I9.3_ENST00000517920.1_RNA	p.C157C	NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.033)		4	785	-			157					B2R9H4|Q68CU2	Silent	SNP	ENST00000285419.3	37	c.471T>C	CCDS6252.1																																																																																				0.413	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1	NM_018710		58	126	0	0	0	1	0	58	126				
FGFRL1	53834	broad.mit.edu	37	4	1018692	1018692	+	Splice_Site	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr4:1018692G>A	ENST00000398484.2	+	8	1652		c.e8-1		FGFRL1_ENST00000264748.6_Splice_Site|FGFRL1_ENST00000504138.1_Splice_Site|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Splice_Site			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1						diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCTCTTGCAGACCCAAAACC	0.662																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.e8-1		fibroblast growth factor receptor-like 1							26.0	30.0	29.0					4																	1018692		2196	4292	6488	SO:0001630	splice_region_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1018692G>A		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1073-1G>A	4.37:g.1018692G>A						FGFRL1_ENST00000504138.1_Splice_Site|FGFRL1_ENST00000510644.1_Splice_Site|FGFRL1_ENST00000264748.6_Splice_Site				Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		8	1652	+								B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Splice_Site	SNP	ENST00000398484.2	37		CCDS3344.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422716	0.43020	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7173	0.23310	0.2073:0.0:0.7927:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FGFRL1	1008692	1.000000	0.71417	0.994000	0.49952	0.508000	0.34012	7.570000	0.82390	2.094000	0.63399	0.651000	0.88453	.		0.662	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923	Intron	24	12	0	0	0	1	0	24	12				
COL6A3	1293	broad.mit.edu	37	2	238287526	238287526	+	Silent	SNP	G	G	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:238287526G>A	ENST00000295550.4	-	6	2702	c.2250C>T	c.(2248-2250)ctC>ctT	p.L750L	COL6A3_ENST00000392003.2_Silent_p.L343L|COL6A3_ENST00000353578.4_Silent_p.L544L|COL6A3_ENST00000392004.3_Silent_p.L544L|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Silent_p.L549L|COL6A3_ENST00000409809.1_Silent_p.L544L|COL6A3_ENST00000346358.4_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	750	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCCCAGCTGTGAGCAGAAGCA	0.577																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(2248-2250)ctC>ctT		collagen, type VI, alpha 3							53.0	50.0	51.0					2																	238287526		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238287526G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2250C>T	2.37:g.238287526G>A						COL6A3_ENST00000409809.1_Silent_p.L544L|COL6A3_ENST00000353578.4_Silent_p.L544L|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000392003.2_Silent_p.L343L|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392004.3_Silent_p.L544L|COL6A3_ENST00000347401.3_Silent_p.L549L	p.L750L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	6	2702	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	750			Nonhelical region.|VWFA 4.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.2250C>T	CCDS33412.1																																																																																				0.577	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		12	33	0	0	0	1	0	12	33				
KCNT1	57582	broad.mit.edu	37	9	138660773	138660773	+	Silent	SNP	C	C	G			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr9:138660773C>G	ENST00000263604.3	+	15	1443	c.1443C>G	c.(1441-1443)gtC>gtG	p.V481V	KCNT1_ENST00000298480.5_Silent_p.V500V|KCNT1_ENST00000371757.2_Silent_p.V500V|KCNT1_ENST00000487664.1_Silent_p.V455V|KCNT1_ENST00000490355.2_Silent_p.V481V|KCNT1_ENST00000486577.2_Silent_p.V461V|KCNT1_ENST00000491806.2_Silent_p.V467V|KCNT1_ENST00000488444.2_Silent_p.V481V			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	481	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AGTTTCACGTCAAGTTTGCTG	0.612																																						ENST00000298480.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1498-1500)gtC>gtG		potassium channel, subfamily T, member 1							110.0	96.0	101.0					9																	138660773		2202	4300	6502	SO:0001819	synonymous_variant	57582					membrane	binding|calcium-activated potassium channel activity	g.chr9:138660773C>G	AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1443C>G	9.37:g.138660773C>G						KCNT1_ENST00000491806.2_Silent_p.V467V|KCNT1_ENST00000371757.2_Silent_p.V500V|KCNT1_ENST00000488444.2_Silent_p.V481V|KCNT1_ENST00000263604.3_Silent_p.V481V|KCNT1_ENST00000487664.1_Silent_p.V455V|KCNT1_ENST00000486577.2_Silent_p.V461V|KCNT1_ENST00000490355.2_Silent_p.V481V	p.V500V			B7ZVY4	B7ZVY4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)	15	1574	+		Myeloproliferative disorder(178;0.0821)	500					B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37	c.1500C>G																																																																																					0.612	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822		11	12	0	0	0	1	0	11	12				
HNRNPU	3192	broad.mit.edu	37	1	245027347	245027352	+	In_Frame_Del	DEL	TCCTCC	TCCTCC	-	rs6675421	byFrequency	TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr1:245027347_245027352delTCCTCC	ENST00000283179.9	-	1	421_426	c.258_263delGGAGGA	c.(256-264)gaggaggaa>gaa	p.86_88EEE>E	HNRNPU_ENST00000444376.2_In_Frame_Del_p.86_88EEE>E|RP11-11N7.4_ENST00000610145.1_lincRNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	86	Asp/Glu-rich (acidic).|Poly-Glu.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			ctcttcctcttcctcctcctcttcAT	0.709																																					NSCLC(33;911 1010 3329 23631 49995)	ENST00000444376.2																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(256-264)gaa>ga		heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)																																				SO:0001651	inframe_deletion	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245027347_245027352delTCCTCC	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.258_263delGGAGGA	1.37:g.245027347_245027352delTCCTCC	ENSP00000283179:p.Glu92_Glu93del					HNRNPU_ENST00000283179.9_In_Frame_Del_p.EEE92del	p.EEE92del	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		1	492_497	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		92			Asp/Glu-rich (acidic).|Poly-Glu.		O75507|Q8N174|Q96HY9|Q9BQ09	In_Frame_Del	DEL	ENST00000283179.9	37	c.258_263delGGAGGA	CCDS41479.1																																																																																				0.709	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		12	19						12	19	---	---	---	---
HK2	3099	broad.mit.edu	37	2	75117925	75117925	+	Splice_Site	DEL	T	T	-	rs141874180		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr2:75117925delT	ENST00000290573.2	+	18	3211	c.2611delT	c.(2611-2613)ttt>tt	p.F871fs	HK2_ENST00000409174.1_Splice_Site_p.F843fs	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	871	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTTTTCCAGCTTTGCCAAAGT	0.483																																						ENST00000290573.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.e18-1		hexokinase 2							200.0	195.0	197.0					2																	75117925		2203	4300	6503	SO:0001630	splice_region_variant	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75117925delT		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2610-1T>-	2.37:g.75117925delT						HK2_ENST00000409174.1_Splice_Site_p.F843_splice	p.F871_splice	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN			18	3211	+			871			Catalytic.		D6W5J2|Q8WU87|Q9UN82	Splice_Site	DEL	ENST00000290573.2	37	c.2609_splice	CCDS1956.1																																																																																				0.483	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189	Frame_Shift_Del	220	194						220	194	---	---	---	---
GOT1L1	137362	broad.mit.edu	37	8	37791833	37791834	+	Frame_Shift_Ins	INS	-	-	T	rs370114090	byFrequency	TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr8:37791833_37791834insT	ENST00000307599.4	-	9	1342_1343	c.1243_1244insA	c.(1243-1245)acafs	p.T415fs		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	415					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			TCCAATCAGTGTTTTTTTTTCC	0.371													?|TTTTTTTTT|TTTTTTTTTT|unsure	7	0.00139776	0.0	0.0	5008	,	,		21654	0.0069		0.0	False		,,,				2504	0.0					ENST00000307599.4																			0				central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14						c.(1243-1245)actfs		glutamic-oxaloacetic transaminase 1-like 1																																				SO:0001589	frameshift_variant	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37791833_37791834insT	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.1244dupA	8.37:g.37791842_37791842dupT	ENSP00000303077:p.Thr415fs						p.T415fs	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		9	1342_1343	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	415					A8MWL4	Frame_Shift_Ins	INS	ENST00000307599.4	37	c.1243_1244insA	CCDS47839.1																																																																																				0.371	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		8	142						8	142	---	---	---	---
RP11-511B23.2	0	broad.mit.edu	37	12	93428951	93428951	+	RNA	DEL	G	G	-			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr12:93428951delG	ENST00000550324.1	-	0	85				RP11-511B23.2_ENST00000549930.1_RNA																							GTCTCTTTCTGGGCTACCTTA	0.438																																						ENST00000550324.1																			0																																																			0							g.chr12:93428951delG																													12.37:g.93428951delG						RP11-511B23.2_ENST00000549930.1_RNA								0	85	-									RNA	DEL	ENST00000550324.1	37																																																																																						0.438	RP11-511B23.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000407311.1			2	4						2	4	---	---	---	---
SERPINF1	5176	broad.mit.edu	37	17	1679892	1679906	+	In_Frame_Del	DEL	AATTTGACCTTGATA	AATTTGACCTTGATA	-	rs138744676		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr17:1679892_1679906delAATTTGACCTTGATA	ENST00000254722.4	+	7	1016_1030	c.853_867delAATTTGACCTTGATA	c.(853-867)aatttgaccttgatadel	p.NLTLI285del		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	285					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						AGTGACCCAGAATTTGACCTTGATAGAGGAGAGCC	0.507																																						ENST00000254722.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						c.(853-867)del		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1																																				SO:0001651	inframe_deletion	5176				cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	g.chr17:1679892_1679906delAATTTGACCTTGATA	M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"""Serine (or cysteine) peptidase inhibitors"""	8824	protein-coding gene	gene with protein product	"""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"""	172860	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"""	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.853_867delAATTTGACCTTGATA	17.37:g.1679892_1679906delAATTTGACCTTGATA	ENSP00000254722:p.Asn285_Ile289del						p.NLTLI285del	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN			7	1016_1030	+			285					F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	In_Frame_Del	DEL	ENST00000254722.4	37	c.853_867delAATTTGACCTTGATA	CCDS11012.1																																																																																				0.507	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615		72	63						72	63	---	---	---	---
ZNF57	126295	broad.mit.edu	37	19	2917737	2917747	+	Frame_Shift_Del	DEL	TCACTTGGTCC	TCACTTGGTCC	-	rs577269585		TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr19:2917737_2917747delTCACTTGGTCC	ENST00000306908.5	+	4	1266_1276	c.1118_1128delTCACTTGGTCC	c.(1117-1128)ttcacttggtccfs	p.FTWS373fs	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Frame_Shift_Del_p.FTWS341fs	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	373					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(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGAAAGCCTTCACTTGGTCCTCAACGTTTA	0.45																																					NSCLC(150;910 1964 4303 10464 26498)	ENST00000306908.5																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1117-1128)tfs		zinc finger protein 57																																				SO:0001589	frameshift_variant	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2917737_2917747delTCACTTGGTCC	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1118_1128delTCACTTGGTCC	19.37:g.2917737_2917747delTCACTTGGTCC	ENSP00000303696:p.Phe373fs					AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Frame_Shift_Del_p.FTWS341fs	p.FTWS373fs	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1266_1276	+			373					Q8N6R9	Frame_Shift_Del	DEL	ENST00000306908.5	37	c.1118_1128delTCACTTGGTCC	CCDS12098.1																																																																																				0.450	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1	NM_173480		29	60						29	60	---	---	---	---
ADCK4	79934	broad.mit.edu	37	19	41208550	41208551	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QK-AA3J-01A-11D-A391-08	TCGA-QK-AA3J-10A-01D-A394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2117bede-c703-4bb1-ae93-603f2a2c0576	656942dd-65ab-4583-a8a8-d92cde8e697a	g.chr19:41208550_41208551insA	ENST00000324464.3	-	10	1148_1149	c.847_848insT	c.(847-849)tggfs	p.W283fs	ADCK4_ENST00000450541.1_Frame_Shift_Ins_p.W242fs|ADCK4_ENST00000243583.6_Frame_Shift_Ins_p.W242fs	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	283	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GTCACACTCCCAAGCCAGCTCC	0.649											OREG0025476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000324464.3																			0				NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17						c.(847-849)ggafs		aarF domain containing kinase 4																																				SO:0001589	frameshift_variant	79934					integral to membrane	protein serine/threonine kinase activity	g.chr19:41208550_41208551insA	AK022291	CCDS12562.1, CCDS46081.1	19q13.2	2008-02-05				ENSG00000123815			19041	protein-coding gene	gene with protein product		615567					Standard	NM_024876		Approved	FLJ12229, COQ8	uc002oor.2	Q96D53		ENST00000324464.3:c.848dupT	19.37:g.41208552_41208552dupA	ENSP00000315118:p.Trp283fs		OREG0025476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	899	ADCK4_ENST00000243583.6_Frame_Shift_Ins_p.G242fs|ADCK4_ENST00000450541.1_Frame_Shift_Ins_p.G242fs	p.G283fs	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)		10	1148_1149	-			283			Protein kinase.		Q8TAJ1|Q9HA52	Frame_Shift_Ins	INS	ENST00000324464.3	37	c.847_848insT	CCDS12562.1																																																																																				0.649	ADCK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462731.1	NM_024876		32	65						32	65	---	---	---	---
