#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HHAT	55733	broad.mit.edu	37	1	210577932	210577932	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr1:210577932C>T	ENST00000367010.1	+	6	820	c.593C>T	c.(592-594)tCc>tTc	p.S198F	HHAT_ENST00000541565.1_Intron|HHAT_ENST00000391905.3_Missense_Mutation_p.S198F|HHAT_ENST00000537898.1_Missense_Mutation_p.S133F|HHAT_ENST00000413764.2_Missense_Mutation_p.S198F|HHAT_ENST00000261458.3_Missense_Mutation_p.S198F|HHAT_ENST00000545154.1_Missense_Mutation_p.S199F|HHAT_ENST00000308852.6_Missense_Mutation_p.S153F|HHAT_ENST00000545781.1_Missense_Mutation_p.S135F	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	198					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GCATCGACCTCCTACTCCTTT	0.547																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(592-594)tCc>tTc		hedgehog acyltransferase							104.0	94.0	98.0					1																	210577932		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210577932C>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.593C>T	1.37:g.210577932C>T	ENSP00000355977:p.Ser198Phe					HHAT_ENST00000391905.3_Missense_Mutation_p.S198F|HHAT_ENST00000261458.3_Missense_Mutation_p.S198F|HHAT_ENST00000545781.1_Missense_Mutation_p.S135F|HHAT_ENST00000537898.1_Missense_Mutation_p.S133F|HHAT_ENST00000545154.1_Missense_Mutation_p.S199F|HHAT_ENST00000308852.6_Missense_Mutation_p.S153F|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000413764.2_Missense_Mutation_p.S198F	p.S198F	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	6	820	+			198					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.593C>T	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	C	4.357	0.065756	0.08388	.	.	ENSG00000054392	ENST00000413764;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000426968	T;T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	5.54	2.54	0.30619	.	0.628414	0.17302	N	0.179233	T	0.49372	0.1553	N	0.12746	0.255	0.09310	N	0.999993	B;B;B;B	0.12630	0.002;0.006;0.005;0.002	B;B;B;B	0.14023	0.007;0.006;0.01;0.004	T	0.29027	-1.0025	10	0.09338	T	0.73	-12.5813	6.4024	0.21646	0.1361:0.6463:0.1331:0.0845	.	153;199;133;198	B7Z2U8;F5H444;B7Z5I1;Q5VTY9	.;.;.;HHAT_HUMAN	F	198;199;133;198;135;198;153;198;70	ENSP00000416845:S198F;ENSP00000438468:S199F;ENSP00000442625:S133F;ENSP00000375773:S198F;ENSP00000439229:S135F;ENSP00000261458:S198F;ENSP00000308628:S153F;ENSP00000355977:S198F;ENSP00000413399:S70F	ENSP00000261458:S198F	S	+	2	0	HHAT	208644555	0.001000	0.12720	0.325000	0.25375	0.186000	0.23388	0.196000	0.17176	0.229000	0.21039	0.591000	0.81541	TCC		0.547	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		16	92	16	92	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152359340	152359340	+	Silent	SNP	C	C	T			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr2:152359340C>T	ENST00000172853.10	-	139	18939	c.18792G>A	c.(18790-18792)gaG>gaA	p.E6264E	NEB_ENST00000409198.1_Silent_p.E6264E|NEB_ENST00000509223.2_Intron|NEB_ENST00000427231.2_Silent_p.E7965E|NEB_ENST00000397345.3_Silent_p.E7965E|NEB_ENST00000397336.2_Silent_p.E2E|NEB_ENST00000604864.1_Silent_p.E7965E|NEB_ENST00000603639.1_Silent_p.E7965E|NEB_ENST00000498015.2_Intron			P20929	NEBU_HUMAN	nebulin	6264					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTTTGACTCTCTCCATCTCTG	0.353																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(23893-23895)gaG>gaA		nebulin							70.0	62.0	64.0					2																	152359340		1807	4067	5874	SO:0001819	synonymous_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152359340C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18792G>A	2.37:g.152359340C>T						NEB_ENST00000397336.2_Silent_p.E2E|NEB_ENST00000172853.10_Silent_p.E6264E|NEB_ENST00000498015.2_Intron|NEB_ENST00000603639.1_Silent_p.E7965E|NEB_ENST00000604864.1_Silent_p.E7965E|NEB_ENST00000409198.1_Silent_p.E6264E|NEB_ENST00000427231.2_Silent_p.E7965E|NEB_ENST00000509223.2_Intron	p.E7965E	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	167	24097	-			6264					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37	c.23895G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.915|7.915	0.737413|0.737413	0.15574|0.15574	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000421461|ENST00000397337	T|.	0.46451|.	0.87|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.233453|.	0.47852|.	D|.	0.000219|.	T|T	0.76227|0.76227	0.3958|0.3958	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.74402|0.74402	-0.3677|-0.3677	6|4	.|.	.|.	.|.	.|.	19.5437|19.5437	0.95283|0.95283	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|K	142|161	ENSP00000408570:E142K|.	.|.	E|R	-|-	1|2	0|0	NEB|NEB	152067586|152067586	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	5.501000|5.501000	0.66950|0.66950	2.615000|2.615000	0.88500|0.88500	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.353	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		3	31	3	31	---	---	---	---
LGSN	51557	broad.mit.edu	37	6	63990019	63990019	+	Silent	SNP	G	G	A			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr6:63990019G>A	ENST00000370657.4	-	4	1470	c.1437C>T	c.(1435-1437)acC>acT	p.T479T	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	479					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATCGAATAAAGGTTTCTCCTA	0.368																																						ENST00000370657.4																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1435-1437)acC>acT		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						75.0	78.0	77.0					6																	63990019		2203	4300	6503	SO:0001819	synonymous_variant	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990019G>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1437C>T	6.37:g.63990019G>A						LGSN_ENST00000370658.5_3'UTR	p.T479T			Q5TDP6	LGSN_HUMAN			4	1470	-			479					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Silent	SNP	ENST00000370657.4	37	c.1437C>T	CCDS4964.1																																																																																				0.368	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		5	110	5	110	---	---	---	---
GPNMB	10457	broad.mit.edu	37	7	23286530	23286530	+	Silent	SNP	A	A	C			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr7:23286530A>C	ENST00000381990.2	+	1	215	c.54A>C	c.(52-54)ccA>ccC	p.P18P	GPNMB_ENST00000409458.3_Silent_p.P18P|GPNMB_ENST00000453162.2_Silent_p.P18P|GPNMB_ENST00000258733.4_Silent_p.P18P|GPNMB_ENST00000539136.1_Silent_p.P18P	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	18					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CAAGATTGCCACTTGATGCCG	0.448																																						ENST00000258733.4																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(52-54)ccA>ccC		glycoprotein (transmembrane) nmb							162.0	173.0	170.0					7																	23286530		2203	4300	6503	SO:0001819	synonymous_variant	10457				negative regulation of cell proliferation	melanosome		g.chr7:23286530A>C	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.54A>C	7.37:g.23286530A>C						GPNMB_ENST00000539136.1_Silent_p.P18P|GPNMB_ENST00000381990.2_Silent_p.P18P|GPNMB_ENST00000453162.2_Silent_p.P18P|GPNMB_ENST00000409458.3_Silent_p.P18P	p.P18P			Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		1	349	+			18					A4D155|Q6UVX1|Q8N1A1	Silent	SNP	ENST00000381990.2	37	c.54A>C	CCDS34610.1																																																																																				0.448	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		4	90	4	90	---	---	---	---
PPP1R9A	55607	broad.mit.edu	37	7	94898588	94898588	+	Intron	SNP	T	T	C			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr7:94898588T>C	ENST00000433881.1	+	12	3289				PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S943P|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S965P|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.S925P|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S943P			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A						actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAGAACGTCTTCTCCAGAATC	0.433										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(2773-2775)Tct>Cct		protein phosphatase 1, regulatory subunit 9A							79.0	71.0	74.0					7																	94898588		1568	3581	5149	SO:0001627	intron_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94898588T>C	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2757+569T>C	7.37:g.94898588T>C		HNSCC(28;0.073)				PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S943P|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S943P|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S965P	p.S925P	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		12	2989	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		925			Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.2773T>C	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834237	0.50951	.	.	ENSG00000158528	ENST00000433360;ENST00000424654;ENST00000289495;ENST00000456331	T;T;T;T	0.19669	2.24;2.18;2.13;2.18	4.31	4.31	0.51392	.	.	.	.	.	T	0.28234	0.0697	N	0.14661	0.345	0.31327	N	0.685297	B;D;D;D	0.71674	0.058;0.986;0.998;0.998	B;P;D;D	0.78314	0.015;0.736;0.991;0.991	T	0.13764	-1.0497	9	0.41790	T	0.15	.	13.0709	0.59061	0.0:0.0:0.0:1.0	.	925;965;943;943	F8W7J9;E9PDX1;D6W5R0;E9PCK6	.;.;.;.	P	965;943;925;943	ENSP00000405514:S965P;ENSP00000411342:S943P;ENSP00000289495:S925P;ENSP00000402893:S943P	ENSP00000289495:S925P	S	+	1	0	PPP1R9A	94736524	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.444000	0.52914	2.168000	0.68352	0.477000	0.44152	TCT		0.433	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		6	34	6	34	---	---	---	---
MATN2	4147	broad.mit.edu	37	8	99030231	99030231	+	Missense_Mutation	SNP	T	T	G			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr8:99030231T>G	ENST00000520016.1	+	11	1830	c.1706T>G	c.(1705-1707)gTc>gGc	p.V569G	MATN2_ENST00000524308.1_Missense_Mutation_p.V528G|MATN2_ENST00000254898.5_Missense_Mutation_p.V569G|MATN2_ENST00000522025.2_Missense_Mutation_p.V285G|MATN2_ENST00000521689.1_Missense_Mutation_p.V569G			O00339	MATN2_HUMAN	matrilin 2	569	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GGGAAAGATGTCTGCCAAGCT	0.488																																						ENST00000254898.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(1705-1707)gTc>gGc		matrilin 2							266.0	272.0	270.0					8																	99030231		2075	4212	6287	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:99030231T>G	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1706T>G	8.37:g.99030231T>G	ENSP00000430487:p.Val569Gly					MATN2_ENST00000520016.1_Missense_Mutation_p.V569G|MATN2_ENST00000524308.1_Missense_Mutation_p.V528G|MATN2_ENST00000522025.2_Missense_Mutation_p.V285G|MATN2_ENST00000521689.1_Missense_Mutation_p.V569G	p.V569G	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		12	1937	+	Breast(36;1.43e-06)		569			EGF-like 9.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.1706T>G	CCDS55264.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.44|12.44	1.938363|1.938363	0.34189|0.34189	.|.	.|.	ENSG00000132561|ENSG00000132561	ENST00000518154;ENST00000517321|ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000522025;ENST00000520016	.|D;T;D;D;T	.|0.83419	.|-1.7;-0.85;-1.72;-1.68;-0.82	4.9|4.9	4.9|4.9	0.64082|0.64082	.|Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|0.469265	.|0.20081	.|N	.|0.099645	T|T	0.70263|0.70263	0.3204|0.3204	N|N	0.16743|0.16743	0.435|0.435	0.53005|0.53005	D|D	0.99996|0.99996	.|B;B;P;B	.|0.36959	.|0.097;0.097;0.575;0.194	.|B;B;B;B	.|0.32980	.|0.075;0.075;0.156;0.075	T|T	0.70487|0.70487	-0.4858|-0.4858	5|10	.|0.29301	.|T	.|0.29	-20.5212|-20.5212	14.9881|14.9881	0.71365|0.71365	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|528;569;569;569	.|C9JH87;E9PF03;O00339-2;O00339	.|.;.;.;MATN2_HUMAN	W|G	351;43|569;569;528;528;285;569	.|ENSP00000429977:V569G;ENSP00000254898:V569G;ENSP00000430221:V528G;ENSP00000429010:V285G;ENSP00000430487:V569G	.|ENSP00000254898:V569G	C|V	+|+	3|2	2|0	MATN2|MATN2	99099407|99099407	0.957000|0.957000	0.32711|0.32711	0.997000|0.997000	0.53966|0.53966	0.981000|0.981000	0.71138|0.71138	2.785000|2.785000	0.47782|0.47782	2.174000|2.174000	0.68829|0.68829	0.533000|0.533000	0.62120|0.62120	TGT|GTC		0.488	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			9	251	9	251	---	---	---	---
OR2S2	56656	broad.mit.edu	37	9	35957215	35957215	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr9:35957215G>C	ENST00000341959.2	-	1	936	c.881C>G	c.(880-882)cCc>cGc	p.P294R		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	294					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			ATAGATGATGGGGTTGAGCAT	0.517																																					Pancreas(172;293 2036 17878 24427 30946)	ENST00000341959.2																			0				central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17						c.(880-882)cCc>cGc		olfactory receptor, family 2, subfamily S, member 2							94.0	91.0	92.0					9																	35957215		2203	4300	6503	SO:0001583	missense	56656				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:35957215G>C	AL135841	CCDS6596.2	9p13.3	2012-08-09			ENSG00000122718	ENSG00000122718		"""GPCR / Class A : Olfactory receptors"""	8276	protein-coding gene	gene with protein product							Standard	NM_019897		Approved		uc011lpi.2	Q9NQN1	OTTHUMG00000019891	ENST00000341959.2:c.881C>G	9.37:g.35957215G>C	ENSP00000344040:p.Pro294Arg						p.P294R	NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)		1	936	-			294					Q2M3L0|Q6IF19|Q96R42	Missense_Mutation	SNP	ENST00000341959.2	37	c.881C>G	CCDS6596.2	.	.	.	.	.	.	.	.	.	.	G	9.787	1.176824	0.21704	.	.	ENSG00000122718	ENST00000341959	T	0.64085	-0.08	4.17	1.26	0.21427	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000120	T	0.75125	0.3807	H	0.94964	3.605	0.25607	N	0.98654	P	0.49253	0.921	P	0.53593	0.73	T	0.67604	-0.5628	10	0.87932	D	0	.	4.7943	0.13265	0.199:0.0:0.628:0.173	.	294	Q9NQN1	OR2S1_HUMAN	R	294	ENSP00000344040:P294R	ENSP00000344040:P294R	P	-	2	0	OR2S2	35947215	1.000000	0.71417	0.999000	0.59377	0.046000	0.14306	3.904000	0.56325	0.274000	0.22072	-0.136000	0.14681	CCC		0.517	OR2S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052400.2	NM_019897		4	115	4	115	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15655705	15655705	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr10:15655705C>T	ENST00000378076.3	-	15	1860	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	503					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTTTTATTTTCAAGATTGATA	0.453																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(1507-1509)Gaa>Aaa		integrin, alpha 8							126.0	132.0	130.0					10																	15655705		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15655705C>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1507G>A	10.37:g.15655705C>T	ENSP00000367316:p.Glu503Lys						p.E503K	NM_003638.1	NP_003629	P53708	ITA8_HUMAN			15	1860	-			503					B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1507G>A	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324961	0.81580	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.60171	0.21	5.38	5.38	0.77491	Integrin alpha-2 (1);	0.193643	0.53938	D	0.000043	T	0.73536	0.3599	M	0.79693	2.465	0.58432	D	0.999996	D;D	0.56746	0.971;0.977	P;P	0.57152	0.716;0.814	T	0.75795	-0.3192	10	0.48119	T	0.1	.	17.3176	0.87228	0.0:1.0:0.0:0.0	.	488;503	F5H818;P53708	.;ITA8_HUMAN	K	503;488	ENSP00000367316:E503K	ENSP00000367316:E503K	E	-	1	0	ITGA8	15695711	1.000000	0.71417	0.982000	0.44146	0.410000	0.31052	5.650000	0.67944	2.524000	0.85096	0.467000	0.42956	GAA		0.453	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		5	129	5	129	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27324083	27324083	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr10:27324083T>C	ENST00000376087.4	-	24	3461	c.3296A>G	c.(3295-3297)aAg>aGg	p.K1099R	ANKRD26_ENST00000436985.2_Missense_Mutation_p.K1115R|ANKRD26_ENST00000376070.3_Missense_Mutation_p.K656R	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1098					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GCTTAGGTCCTTTTGTACCCG	0.363																																						ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(3295-3297)aAg>aGg		ankyrin repeat domain 26							140.0	136.0	137.0					10																	27324083		1865	4106	5971	SO:0001583	missense	22852					centrosome		g.chr10:27324083T>C	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3296A>G	10.37:g.27324083T>C	ENSP00000365255:p.Lys1099Arg					ANKRD26_ENST00000436985.2_Missense_Mutation_p.K1115R|ANKRD26_ENST00000376070.3_Missense_Mutation_p.K656R	p.K1099R	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			24	3461	-			1098					A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.3296A>G	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	T	0.068	-1.209452	0.01568	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.10763	2.84;2.84;2.84	5.43	0.208	0.15221	.	0.100084	0.40818	N	0.001006	T	0.01222	0.0040	N	0.00071	-2.275	0.21290	N	0.999738	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40683	-0.9550	10	0.02654	T	1	.	2.9165	0.05754	0.1349:0.4517:0.2617:0.1517	.	1099;1098;1115	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	R	656;1099;1115	ENSP00000365238:K656R;ENSP00000365255:K1099R;ENSP00000405112:K1115R	ENSP00000365238:K656R	K	-	2	0	ANKRD26	27364089	1.000000	0.71417	0.000000	0.03702	0.557000	0.35523	1.922000	0.40045	-0.230000	0.09840	-1.286000	0.01371	AAG		0.363	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			4	181	4	181	---	---	---	---
FAM13C	220965	broad.mit.edu	37	10	61083780	61083780	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr10:61083780G>T	ENST00000373868.2	-	4	498	c.411C>A	c.(409-411)ttC>ttA	p.F137L	FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000373867.3_Missense_Mutation_p.F54L|FAM13C_ENST00000419214.2_Missense_Mutation_p.F137L|FAM13C_ENST00000468840.2_Missense_Mutation_p.F54L|FAM13C_ENST00000422313.2_Missense_Mutation_p.F137L|FAM13C_ENST00000277705.6_Missense_Mutation_p.F137L|FAM13C_ENST00000442566.3_Missense_Mutation_p.F137L|FAM13C_ENST00000435852.2_Missense_Mutation_p.F137L	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	137										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTGGCACTTGAAGGCATTGT	0.488																																						ENST00000373867.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(160-162)ttC>ttA		family with sequence similarity 13, member C							401.0	340.0	361.0					10																	61083780		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61083780G>T	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.411C>A	10.37:g.61083780G>T	ENSP00000362975:p.Phe137Leu					FAM13C_ENST00000419214.2_Missense_Mutation_p.F137L|FAM13C_ENST00000442566.3_Missense_Mutation_p.F137L|FAM13C_ENST00000422313.2_Missense_Mutation_p.F137L|FAM13C_ENST00000373868.2_Missense_Mutation_p.F137L|FAM13C_ENST00000468840.2_Missense_Mutation_p.F54L|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000277705.6_Missense_Mutation_p.F137L|FAM13C_ENST00000435852.2_Missense_Mutation_p.F137L	p.F54L	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN			5	627	-			137					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.162C>A	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085489	0.55861	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T	0.77489	0.94;-1.1;-1.1;0.91;0.94;0.94	5.96	4.13	0.48395	.	0.376195	0.25668	N	0.029094	T	0.72187	0.3429	L	0.56769	1.78	0.30045	N	0.8123	B;B;B;B;B	0.34290	0.005;0.001;0.003;0.447;0.003	B;B;B;B;B	0.36378	0.006;0.004;0.006;0.223;0.004	T	0.67734	-0.5594	10	0.33940	T	0.23	-7.7726	8.9811	0.35966	0.1679:0.0:0.8321:0.0	.	137;54;137;137;137	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	L	54;137;137;137;137;54;137;137	ENSP00000362975:F137L;ENSP00000395661:F137L;ENSP00000277705:F137L;ENSP00000391993:F137L;ENSP00000392302:F137L;ENSP00000400241:F137L	ENSP00000277705:F137L	F	-	3	2	FAM13C	60753786	1.000000	0.71417	0.830000	0.32933	0.964000	0.63967	1.883000	0.39658	0.867000	0.35654	0.650000	0.86243	TTC		0.488	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			7	193	7	193	---	---	---	---
STOX1	219736	broad.mit.edu	37	10	70645938	70645938	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr10:70645938A>G	ENST00000298596.6	+	3	2469	c.2386A>G	c.(2386-2388)Aga>Gga	p.R796G	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.R796G|STOX1_ENST00000421961.2_Missense_Mutation_p.R686G|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	796						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GGTGCTTAAAAGAAATGAATG	0.468																																						ENST00000298596.6																			0				breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						c.(2386-2388)Aga>Gga		storkhead box 1							80.0	82.0	82.0					10																	70645938		1891	4120	6011	SO:0001583	missense	219736					cytoplasm|nucleolus	DNA binding	g.chr10:70645938A>G	AK057891	CCDS41535.1, CCDS44416.1, CCDS44417.1	10q22.1	2005-11-29	2005-04-04	2005-04-04	ENSG00000165730	ENSG00000165730			23508	protein-coding gene	gene with protein product		609397	"""chromosome 10 open reading frame 24"""	C10orf24			Standard	NM_152709		Approved	FLJ25162	uc001joq.3	Q6ZVD7	OTTHUMG00000018367	ENST00000298596.6:c.2386A>G	10.37:g.70645938A>G	ENSP00000298596:p.Arg796Gly					STOX1_ENST00000421961.2_Missense_Mutation_p.R686G|STOX1_ENST00000399169.4_Missense_Mutation_p.R796G|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron	p.R796G	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN			3	2469	+			796					A2A3Q9|A5D6Y7|B0QZA4|B0QZA5|B0QZA6|Q4F8Q6|Q5I946|Q5I947|Q5I948|Q5VX38|Q5VX39|Q6ZRY3|Q96LR3|Q96LS0	Missense_Mutation	SNP	ENST00000298596.6	37	c.2386A>G	CCDS41535.1	.	.	.	.	.	.	.	.	.	.	A	0.375	-0.932069	0.02359	.	.	ENSG00000165730	ENST00000399169;ENST00000298596;ENST00000421961	T;T;T	0.65916	-0.18;-0.18;-0.18	6.17	3.81	0.43845	.	0.864159	0.10661	N	0.648692	T	0.29976	0.0750	N	0.01505	-0.83	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21999	-1.0229	10	0.11182	T	0.66	.	7.0867	0.25261	0.3541:0.0:0.6459:0.0	.	796	Q6ZVD7	STOX1_HUMAN	G	796;796;686	ENSP00000382121:R796G;ENSP00000298596:R796G;ENSP00000394509:R686G	ENSP00000298596:R796G	R	+	1	2	STOX1	70315944	0.001000	0.12720	0.003000	0.11579	0.505000	0.33919	0.950000	0.29122	1.401000	0.46761	0.533000	0.62120	AGA		0.468	STOX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276849.3	NM_152709		4	68	4	68	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102733793	102733793	+	RNA	SNP	C	C	G			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr11:102733793C>G	ENST00000532855.1	-	0	1546							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	ACTTATTAAGCTGAAGTGAAC	0.313																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)						108.0	105.0	106.0					11																	102733793		1827	4081	5908			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102733793C>G	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102733793C>G										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	1546	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	SNP	ENST00000532855.1	37																																																																																						0.313	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		4	52	4	52	---	---	---	---
AKAP11	11215	broad.mit.edu	37	13	42875269	42875269	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr13:42875269C>A	ENST00000025301.2	+	8	2562	c.2387C>A	c.(2386-2388)tCt>tAt	p.S796Y		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	796					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CATATTTCATCTACTGCATGT	0.428																																						ENST00000025301.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(2386-2388)tCt>tAt		A kinase (PRKA) anchor protein 11							136.0	121.0	126.0					13																	42875269		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42875269C>A	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.2387C>A	13.37:g.42875269C>A	ENSP00000025301:p.Ser796Tyr						p.S796Y	NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	2562	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	796					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.2387C>A	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863418	0.32884	.	.	ENSG00000023516	ENST00000025301	T	0.16597	2.33	6.08	6.08	0.98989	.	0.506157	0.20470	N	0.091708	T	0.37019	0.0988	M	0.67953	2.075	0.25061	N	0.991061	D	0.57571	0.98	P	0.58331	0.837	T	0.18366	-1.0339	10	0.72032	D	0.01	.	15.3887	0.74726	0.1392:0.8608:0.0:0.0	.	796	Q9UKA4	AKA11_HUMAN	Y	796	ENSP00000025301:S796Y	ENSP00000025301:S796Y	S	+	2	0	AKAP11	41773269	0.998000	0.40836	0.079000	0.20413	0.393000	0.30537	2.993000	0.49425	2.894000	0.99253	0.655000	0.94253	TCT		0.428	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		7	86	7	86	---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75514215	75514215	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr14:75514215G>A	ENST00000556740.1	-	1	2179	c.2144C>T	c.(2143-2145)cCc>cTc	p.P715L	MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000355774.2_Missense_Mutation_p.P715L|MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.P715L|MLH3_ENST00000238662.7_Missense_Mutation_p.P715L			Q9UHC1	MLH3_HUMAN	mutL homolog 3	715					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GGGGAAAGAGGGGGATGTATC	0.383								Mismatch excision repair (MMR)																														ENST00000355774.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44						c.(2143-2145)cCc>cTc	Mismatch excision repair (MMR)	mutL homolog 3							89.0	89.0	89.0					14																	75514215		2203	4300	6503	SO:0001583	missense	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75514215G>A	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2144C>T	14.37:g.75514215G>A	ENSP00000452316:p.Pro715Leu					MLH3_ENST00000238662.7_Missense_Mutation_p.P715L|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Missense_Mutation_p.P715L|MLH3_ENST00000556257.1_Missense_Mutation_p.P715L	p.P715L	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	2359	-			715					P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	c.2144C>T	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.614350	0.00120	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.96	3.8	0.43715	.	0.479596	0.21456	N	0.074251	T	0.18759	0.0450	N	0.22421	0.69	0.19300	N	0.999973	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.16808	-1.0390	10	0.14252	T	0.57	-1.7781	11.2462	0.48998	0.0769:0.1308:0.7923:0.0	.	715;715	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	L	715	ENSP00000348020:P715L;ENSP00000238662:P715L;ENSP00000451540:P715L;ENSP00000452316:P715L	ENSP00000238662:P715L	P	-	2	0	MLH3	74583968	0.862000	0.29867	0.010000	0.14722	0.038000	0.13279	1.870000	0.39529	1.504000	0.48704	-0.175000	0.13238	CCC		0.383	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		11	112	11	112	---	---	---	---
DLL4	54567	broad.mit.edu	37	15	41227101	41227101	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr15:41227101G>C	ENST00000249749.5	+	8	1302	c.1026G>C	c.(1024-1026)caG>caC	p.Q342H		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	342	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|blood circulation (GO:0008015)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac atrium morphogenesis (GO:0003209)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|dorsal aorta morphogenesis (GO:0035912)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of neural retina development (GO:0061074)|regulation of neurogenesis (GO:0050767)|signal transduction (GO:0007165)|ventral spinal cord interneuron fate commitment (GO:0060579)|ventricular trabecula myocardium morphogenesis (GO:0003222)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TCCAGGACCAGGAGGATGGCT	0.607																																						ENST00000249749.5																			0				breast(3)|large_intestine(1)	4						c.(1024-1026)caG>caC		delta-like 4 (Drosophila)							61.0	65.0	64.0					15																	41227101		2077	4208	6285	SO:0001583	missense	54567				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding	g.chr15:41227101G>C	AF253468	CCDS45232.1	15q14	2008-07-03	2001-12-03			ENSG00000128917			2910	protein-coding gene	gene with protein product		605185	"""delta-like 4 homolog (Drosophila)"""			10837024	Standard	NM_019074		Approved		uc001zng.2	Q9NR61		ENST00000249749.5:c.1026G>C	15.37:g.41227101G>C	ENSP00000249749:p.Gln342His						p.Q342H	NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	8	1302	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	342			EGF-like 4.		Q3KP23|Q9NQT9	Missense_Mutation	SNP	ENST00000249749.5	37	c.1026G>C	CCDS45232.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277109	0.23307	.	.	ENSG00000128917	ENST00000249749	T	0.66460	-0.21	5.96	0.657	0.17850	EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.488545	0.22918	N	0.054044	T	0.44095	0.1277	N	0.17838	0.53	0.36903	D	0.890529	B	0.02656	0.0	B	0.04013	0.001	T	0.15521	-1.0434	10	0.33141	T	0.24	.	5.5847	0.17267	0.3556:0.0:0.5234:0.1211	.	342	Q9NR61	DLL4_HUMAN	H	342	ENSP00000249749:Q342H	ENSP00000249749:Q342H	Q	+	3	2	DLL4	39014393	1.000000	0.71417	0.565000	0.28409	0.991000	0.79684	1.002000	0.29796	-0.125000	0.11703	0.650000	0.86243	CAG		0.607	DLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418859.1			4	100	4	100	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72845836	72845836	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr16:72845836G>T	ENST00000268489.5	-	6	4303	c.3631C>A	c.(3631-3633)Cca>Aca	p.P1211T	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P297T|RP5-991G20.2_ENST00000558618.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1211					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGTTTTTGGTCGCTTCGAA	0.532																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(3631-3633)Cca>Aca		zinc finger homeobox 3							171.0	176.0	174.0					16																	72845836		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72845836G>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3631C>A	16.37:g.72845836G>T	ENSP00000268489:p.Pro1211Thr					ZFHX3_ENST00000397992.5_Missense_Mutation_p.P297T	p.P1211T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			6	4303	-		Ovarian(137;0.13)	1211					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.3631C>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034939	0.35893	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74632	-0.86;-0.78	5.86	5.86	0.93980	.	0.135512	0.33772	N	0.004567	T	0.57344	0.2047	N	0.16368	0.405	0.50171	D	0.999851	B	0.26512	0.151	B	0.22753	0.041	T	0.56068	-0.8040	10	0.48119	T	0.1	.	9.5985	0.39589	0.0725:0.0:0.7844:0.1431	.	1211	Q15911	ZFHX3_HUMAN	T	1211;297	ENSP00000268489:P1211T;ENSP00000438926:P297T	ENSP00000268489:P1211T	P	-	1	0	ZFHX3	71403337	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.172000	0.65003	2.937000	0.99478	0.650000	0.86243	CCA		0.532	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		8	134	8	134	---	---	---	---
ZNF18	7566	broad.mit.edu	37	17	11881383	11881383	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr17:11881383T>C	ENST00000322748.3	-	9	2145	c.1541A>G	c.(1540-1542)cAc>cGc	p.H514R	ZNF18_ENST00000580306.2_Missense_Mutation_p.H514R|RP11-1096G20.5_ENST00000580270.1_RNA|ZNF18_ENST00000454073.3_Missense_Mutation_p.H513R	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	514					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CTCTCCAGTGTGAACCCTCTG	0.423																																						ENST00000322748.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14						c.(1540-1542)cAc>cGc		zinc finger protein 18							113.0	115.0	114.0					17																	11881383		2203	4300	6503	SO:0001583	missense	7566				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:11881383T>C	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.1541A>G	17.37:g.11881383T>C	ENSP00000315664:p.His514Arg					ZNF18_ENST00000580306.2_Missense_Mutation_p.H514R|ZNF18_ENST00000454073.3_Missense_Mutation_p.H513R	p.H514R	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	9	2145	-			514					Q5QHQ3|Q8IYC4|Q8NAH6	Missense_Mutation	SNP	ENST00000322748.3	37	c.1541A>G	CCDS32568.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.962831	0.34659	.	.	ENSG00000154957	ENST00000454073;ENST00000322748	T	0.67523	-0.27	5.78	4.68	0.58851	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000019	T	0.81635	0.4864	M	0.91249	3.19	0.37272	D	0.907449	D;D	0.62365	0.988;0.991	P;P	0.58820	0.761;0.846	D	0.86258	0.1653	10	0.87932	D	0	-19.0704	10.4083	0.44278	0.1465:0.0:0.0:0.8535	.	513;514	P17022-2;P17022	.;ZNF18_HUMAN	R	514	ENSP00000315664:H514R	ENSP00000315664:H514R	H	-	2	0	ZNF18	11822108	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.987000	0.88182	0.981000	0.38548	0.451000	0.29950	CAC		0.423	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	XM_085596		7	96	7	96	---	---	---	---
AP2B1	163	broad.mit.edu	37	17	33977804	33977805	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr17:33977804_33977805GG>AA	ENST00000262325.7	+	13	2345_2346	c.1792_1793GG>AA	c.(1792-1794)GGg>AAg	p.G598K	AP2B1_ENST00000537622.2_Missense_Mutation_p.G598K|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Missense_Mutation_p.G598K|AP2B1_ENST00000592545.1_Missense_Mutation_p.G560K|AP2B1_ENST00000538556.1_Missense_Mutation_p.G541K|AP2B1_ENST00000589344.1_Missense_Mutation_p.G598K	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	598	Pro-rich (stalk region).				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AATTCATCATGGGAGGTAAGAA	0.421																																						ENST00000262325.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1792-1794)Ggg>Agg|c.(1792-1794)gGg>gAg		adaptor-related protein complex 2, beta 1 subunit																																				SO:0001583	missense	163				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity	g.chr17:33977804G>A|g.chr17:33977805G>A	M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		Exception_encountered	17.37:g.33977804_33977805delinsAA	ENSP00000262325:p.Gly598Lys					AP2B1_ENST00000537622.2_Missense_Mutation_p.G598R|AP2B1_ENST00000312678.8_Missense_Mutation_p.G598R|AP2B1_ENST00000592545.1_Missense_Mutation_p.G560R|AP2B1_ENST00000538556.1_Missense_Mutation_p.G541R|AP2B1_ENST00000589344.1_Missense_Mutation_p.G598R|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.G598E|AP2B1_ENST00000312678.8_Missense_Mutation_p.G598E|AP2B1_ENST00000592545.1_Missense_Mutation_p.G560E|AP2B1_ENST00000538556.1_Missense_Mutation_p.G541E|AP2B1_ENST00000589344.1_Missense_Mutation_p.G598E|AP2B1_ENST00000545922.2_3'UTR	p.G598R|p.G598E	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)	13	2345|2346	+		Ovarian(249;0.17)	598			Pro-rich (stalk region).		A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	ENST00000262325.7	37	c.1792G>A|c.1793G>A	CCDS32622.1																																																																																				0.421	AP2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448969.1			5|4	86	4	86	---	---	---	---
PTPRS	5802	broad.mit.edu	37	19	5210793	5210793	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr19:5210793G>C	ENST00000587303.1	-	33	5357	c.5258C>G	c.(5257-5259)aCa>aGa	p.T1753R	PTPRS_ENST00000372412.4_Missense_Mutation_p.T1754R|PTPRS_ENST00000262963.6_Missense_Mutation_p.T1733R|PTPRS_ENST00000588012.1_Missense_Mutation_p.T1715R|PTPRS_ENST00000353284.2_Missense_Mutation_p.T1306R|PTPRS_ENST00000348075.2_Missense_Mutation_p.T1715R|PTPRS_ENST00000592099.1_Missense_Mutation_p.T1306R|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Missense_Mutation_p.T1753R			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1753	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CGGCCCCTGTGTCGCGATGTA	0.657																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(5260-5262)aCa>aGa		protein tyrosine phosphatase, receptor type, S							67.0	55.0	59.0					19																	5210793		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5210793G>C	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5258C>G	19.37:g.5210793G>C	ENSP00000467537:p.Thr1753Arg					PTPRS_ENST00000357368.4_Missense_Mutation_p.T1753R|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.T1733R|PTPRS_ENST00000587303.1_Missense_Mutation_p.T1753R|PTPRS_ENST00000348075.2_Missense_Mutation_p.T1715R|PTPRS_ENST00000588012.1_Missense_Mutation_p.T1715R|PTPRS_ENST00000592099.1_Missense_Mutation_p.T1306R|PTPRS_ENST00000353284.2_Missense_Mutation_p.T1306R	p.T1754R			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	34	5494	-			1753			Tyrosine-protein phosphatase 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.5261C>G	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	g	17.40	3.380147	0.61845	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32	2.58	2.58	0.30949	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.326429	0.24508	U	0.037901	D	0.95834	0.8644	H	0.98951	4.38	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.85130	0.987;0.989;0.964;0.997;0.989;0.983	D	0.96427	0.9316	10	0.66056	D	0.02	.	12.5368	0.56145	0.0:0.0:1.0:0.0	.	1335;1306;1310;1715;1753;1348	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	R	1348;1754;1753;1753;1744;1733;1715;1335;1310;1306	ENSP00000361489:T1754R;ENSP00000349932:T1753R;ENSP00000262963:T1733R;ENSP00000269907:T1715R;ENSP00000327313:T1306R	ENSP00000262963:T1733R	T	-	2	0	PTPRS	5161793	1.000000	0.71417	0.571000	0.28486	0.629000	0.37895	9.314000	0.96306	1.468000	0.48064	0.486000	0.48141	ACA		0.657	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			3	33	3	33	---	---	---	---
CYP4F3	4051	broad.mit.edu	37	19	15757912	15757912	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr19:15757912C>A	ENST00000221307.8	+	4	441	c.394C>A	c.(394-396)Ctg>Atg	p.L132M	CYP4F3_ENST00000585846.1_Missense_Mutation_p.L132M|CYP4F3_ENST00000586182.2_Missense_Mutation_p.L132M|CYP4F3_ENST00000591058.1_Missense_Mutation_p.L132M	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	132					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GAAGCCCTGGCTGGGTGAGTA	0.582																																						ENST00000221307.8																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(394-396)Ctg>Atg		cytochrome P450, family 4, subfamily F, polypeptide 3							87.0	80.0	83.0					19																	15757912		2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15757912C>A	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.394C>A	19.37:g.15757912C>A	ENSP00000221307:p.Leu132Met					CYP4F3_ENST00000586182.2_Missense_Mutation_p.L132M|CYP4F3_ENST00000585846.1_Missense_Mutation_p.L132M|CYP4F3_ENST00000591058.1_Missense_Mutation_p.L132M	p.L132M	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			4	441	+								B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.394C>A	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	11.05	1.525772	0.27299	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.70045	-0.45	2.96	1.86	0.25419	.	0.573052	0.13220	U	0.404439	T	0.80597	0.4653	M	0.83384	2.64	0.47778	D	0.99951	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.78432	-0.2206	10	0.87932	D	0	.	9.2265	0.37410	0.0:0.7751:0.2249:0.0	.	132;132	B7Z8Z3;Q08477	.;CP4F3_HUMAN	M	59;132	ENSP00000221307:L132M	ENSP00000221307:L132M	L	+	1	2	CYP4F3	15618912	1.000000	0.71417	0.998000	0.56505	0.224000	0.24922	1.057000	0.30492	0.392000	0.25172	0.205000	0.17691	CTG		0.582	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		5	114	5	114	---	---	---	---
PLCB1	23236	broad.mit.edu	37	20	8862290	8862290	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr20:8862290G>C	ENST00000338037.6	+	32	3472	c.3445G>C	c.(3445-3447)Gaa>Caa	p.E1149Q	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1149					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCTGGAGCAAGAATACCAAGA	0.453																																						ENST00000338037.6																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(3445-3447)Gaa>Caa		phospholipase C, beta 1 (phosphoinositide-specific)							130.0	139.0	136.0					20																	8862290		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8862290G>C	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3445G>C	20.37:g.8862290G>C	ENSP00000338185:p.Glu1149Gln					PLCB1_ENST00000378641.3_3'UTR	p.E1149Q	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN			32	3472	+			1149					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.3445G>C	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687212	0.88639	.	.	ENSG00000182621	ENST00000338037;ENST00000441163	T	0.55413	0.52	5.86	5.86	0.93980	PLC-beta, C-terminal (1);	0.127832	0.53938	D	0.000047	T	0.60702	0.2289	L	0.52573	1.65	0.80722	D	1	D	0.53312	0.959	P	0.50049	0.629	T	0.62015	-0.6943	10	0.66056	D	0.02	.	20.2019	0.98263	0.0:0.0:1.0:0.0	.	1149	Q9NQ66	PLCB1_HUMAN	Q	1149;1069	ENSP00000338185:E1149Q	ENSP00000338185:E1149Q	E	+	1	0	PLCB1	8810290	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.050000	0.93843	2.776000	0.95493	0.655000	0.94253	GAA		0.453	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			5	163	5	163	---	---	---	---
UBE2L3	7332	broad.mit.edu	37	22	21947210	21947210	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chr22:21947210G>C	ENST00000342192.4	+	2	286	c.88G>C	c.(88-90)Gct>Cct	p.A30P	UBE2L3_ENST00000458578.2_Missense_Mutation_p.A88P|UBE2L3_ENST00000545681.1_Intron	NM_003347.3	NP_003338.1	P68036	UB2L3_HUMAN	ubiquitin-conjugating enzyme E2L 3	30					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein K11-linked ubiquitination (GO:0070979)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)|ubiquitin-protein transferase activity (GO:0004842)		UBE2L3/KRAS(2)	large_intestine(4)	4	Colorectal(54;0.105)					GGTTGATGAAGCTAATTTATT	0.418																																						ENST00000342192.4																		UBE2L3/KRAS(2)	0				large_intestine(4)	4						c.(88-90)Gct>Cct		ubiquitin-conjugating enzyme E2L 3							117.0	91.0	100.0					22																	21947210		2203	4300	6503	SO:0001583	missense	7332				cell proliferation|cellular response to glucocorticoid stimulus|protein K11-linked ubiquitination|regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	ATP binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr22:21947210G>C	AJ000519	CCDS13790.1, CCDS58795.1, CCDS58796.1	22q11.2	2007-02-05			ENSG00000185651	ENSG00000185651		"""Ubiquitin-conjugating enzymes E2"""	12488	protein-coding gene	gene with protein product		603721				8672131, 9693040	Standard	NM_001256356		Approved	UBCH7	uc031rxe.1	P68036	OTTHUMG00000150823	ENST00000342192.4:c.88G>C	22.37:g.21947210G>C	ENSP00000344259:p.Ala30Pro					UBE2L3_ENST00000545681.1_Intron|UBE2L3_ENST00000458578.2_Missense_Mutation_p.A88P	p.A30P	NM_003347.3	NP_003338.1	P68036	UB2L3_HUMAN			2	286	+	Colorectal(54;0.105)		30					B2R4A7|B4DDG1|B4DSZ4|E7EWS7|P51966|P70653|Q9HAV1	Missense_Mutation	SNP	ENST00000342192.4	37	c.88G>C	CCDS13790.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878499	0.51801	.	.	ENSG00000185651	ENST00000458578;ENST00000342192	T;T	0.72282	-0.64;-0.64	5.63	5.63	0.86233	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.144833	0.46758	D	0.000267	T	0.57359	0.2048	N	0.21448	0.665	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.54589	-0.8271	10	0.56958	D	0.05	.	12.4832	0.55856	0.0:0.0:0.833:0.167	.	30;30	P68036;A8K4W8	UB2L3_HUMAN;.	P	88;30	ENSP00000400906:A88P;ENSP00000344259:A30P	ENSP00000344259:A30P	A	+	1	0	UBE2L3	20277210	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.823000	0.55715	2.815000	0.96918	0.561000	0.74099	GCT		0.418	UBE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320219.1	NM_198157		3	43	3	43	---	---	---	---
ARSD	414	broad.mit.edu	37	X	2838677	2838677	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chrX:2838677A>C	ENST00000381154.1	-	4	479	c.404T>G	c.(403-405)aTc>aGc	p.I135S	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	135					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGCTGCAAGATTCTTGCAAA	0.527																																						ENST00000381154.1																			0				large_intestine(3)|lung(3)	6						c.(403-405)aTc>aGc		arylsulfatase D							96.0	73.0	81.0					X																	2838677		2203	4300	6503	SO:0001583	missense	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2838677A>C	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.404T>G	X.37:g.2838677A>C	ENSP00000370546:p.Ile135Ser					ARSD_ENST00000217890.6_5'UTR	p.I135S	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN			4	479	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	135					Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	c.404T>G	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	a	12.69	2.014336	0.35511	.	.	ENSG00000006756	ENST00000381154;ENST00000217890	D	0.98876	-5.2	3.1	3.1	0.35709	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.300521	0.32671	U	0.005800	D	0.98005	0.9343	M	0.76170	2.325	0.30705	N	0.749845	P;P;P	0.46784	0.763;0.884;0.763	B;P;P	0.48770	0.255;0.542;0.589	D	0.96694	0.9513	10	0.72032	D	0.01	.	10.2672	0.43462	1.0:0.0:0.0:0.0	.	135;135;135	P51689-2;E9PAW5;P51689	.;.;ARSD_HUMAN	S	135	ENSP00000370546:I135S	ENSP00000217890:I135S	I	-	2	0	ARSD	2848677	0.401000	0.25303	0.001000	0.08648	0.162000	0.22319	4.211000	0.58507	1.094000	0.41399	0.343000	0.21770	ATC		0.527	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			4	23	4	23	---	---	---	---
HDHD1	8226	broad.mit.edu	37	X	7023871	7023871	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chrX:7023871G>A	ENST00000381077.5	-	2	146	c.70C>T	c.(70-72)Cgg>Tgg	p.R24W	HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000412827.2_Missense_Mutation_p.R24W|HDHD1_ENST00000424830.2_Missense_Mutation_p.R47W|HDHD1_ENST00000540122.1_Missense_Mutation_p.R24W	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	24					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						GAATACAGCCGTTCAGTATCT	0.393																																						ENST00000381077.5																			0				breast(2)|large_intestine(1)|lung(3)	6						c.(70-72)Cgg>Tgg		haloacid dehalogenase-like hydrolase domain containing 1							37.0	31.0	33.0					X																	7023871		1828	4076	5904	SO:0001583	missense	8226				nucleotide metabolic process		metal ion binding|phosphatase activity	g.chrX:7023871G>A	M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"""family with sequence similarity 16, member A, X-linked"", ""haloacid dehalogenase-like hydrolase domain containing 1A"""	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.70C>T	X.37:g.7023871G>A	ENSP00000370467:p.Arg24Trp					HDHD1_ENST00000424830.2_Missense_Mutation_p.R47W|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000540122.1_Missense_Mutation_p.R24W|HDHD1_ENST00000412827.2_Missense_Mutation_p.R24W	p.R24W	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN			2	146	-			24					B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	ENST00000381077.5	37	c.70C>T	CCDS48075.1	.	.	.	.	.	.	.	.	.	.	g	12.52	1.963176	0.34659	.	.	ENSG00000130021	ENST00000381077;ENST00000544385;ENST00000412827;ENST00000424830;ENST00000540122;ENST00000486446	T;T;T;T;T	0.30981	3.39;1.51;3.39;3.39;3.39	4.01	4.01	0.46588	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.270733	0.37095	N	0.002256	T	0.50292	0.1607	L	0.60845	1.875	0.80722	D	1	D;D;B;D;P	0.89917	1.0;0.995;0.287;1.0;0.627	D;P;B;D;B	0.77557	0.986;0.78;0.056;0.99;0.114	T	0.52215	-0.8605	10	0.52906	T	0.07	-21.3852	14.2172	0.65800	0.0:0.0:1.0:0.0	.	24;24;47;24;24	Q08623-3;Q08623-2;E9PAV8;E7EVH9;Q08623	.;.;.;.;HDHD1_HUMAN	W	24;40;24;47;24;24	ENSP00000370467:R24W;ENSP00000406260:R24W;ENSP00000396452:R47W;ENSP00000441208:R24W;ENSP00000430995:R24W	ENSP00000370467:R24W	R	-	1	2	HDHD1	7033871	0.983000	0.35010	0.016000	0.15963	0.229000	0.25112	2.693000	0.47027	1.618000	0.50286	0.597000	0.82753	CGG		0.393	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055683.2	NM_012080		3	10	3	10	---	---	---	---
STAG2	10735	broad.mit.edu	37	X	123179076	123179076	+	Silent	SNP	T	T	C			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chrX:123179076T>C	ENST00000371160.1	+	8	815	c.525T>C	c.(523-525)ttT>ttC	p.F175F	STAG2_ENST00000371145.3_Silent_p.F175F|STAG2_ENST00000354548.5_Silent_p.F106F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.F175F|STAG2_ENST00000371157.3_Silent_p.F175F|STAG2_ENST00000371144.3_Silent_p.F175F	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	175					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AATCCAGTTTTTGTGAATTCA	0.343																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(523-525)ttT>ttC		stromal antigen 2							175.0	162.0	167.0					X																	123179076		2203	4300	6503	SO:0001819	synonymous_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123179076T>C	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.525T>C	X.37:g.123179076T>C						STAG2_ENST00000371157.3_Silent_p.F175F|STAG2_ENST00000371144.3_Silent_p.F175F|STAG2_ENST00000371145.3_Silent_p.F175F|STAG2_ENST00000354548.5_Silent_p.F106F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.F175F	p.F175F	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN			8	815	+			175					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Silent	SNP	ENST00000371160.1	37	c.525T>C	CCDS14607.1																																																																																				0.343	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		18	157	18	157	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149639452	149639452	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-A87E-01A-31D-A34U-08	TCGA-VP-A87E-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eae221e0-1a67-4302-a04a-10195507d23b	a73d17ac-6872-4b3d-a945-212f2a20d843	g.chrX:149639452C>G	ENST00000370401.2	+	4	1917	c.1607C>G	c.(1606-1608)cCa>cGa	p.P536R	MAMLD1_ENST00000455522.2_Missense_Mutation_p.P17R|MAMLD1_ENST00000262858.5_Missense_Mutation_p.P536R|MAMLD1_ENST00000432680.2_Missense_Mutation_p.P511R|MAMLD1_ENST00000426613.2_Missense_Mutation_p.P511R			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	536					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GCCACGGAGCCATTTACTTTT	0.542																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1606-1608)cCa>cGa		mastermind-like domain containing 1							124.0	106.0	112.0					X																	149639452		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639452C>G	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1607C>G	X.37:g.149639452C>G	ENSP00000359428:p.Pro536Arg					MAMLD1_ENST00000455522.2_Missense_Mutation_p.P17R|MAMLD1_ENST00000432680.2_Missense_Mutation_p.P511R|MAMLD1_ENST00000262858.5_Missense_Mutation_p.P536R|MAMLD1_ENST00000426613.2_Missense_Mutation_p.P511R	p.P536R			Q13495	MAMD1_HUMAN			4	1917	+	Acute lymphoblastic leukemia(192;6.56e-05)		536					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1607C>G	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746323	0.30955	.	.	ENSG00000013619	ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	5.45	3.49	0.39957	.	0.260319	0.33057	N	0.005337	T	0.78329	0.4266	M	0.70275	2.135	0.31144	N	0.706224	D;D;D	0.89917	1.0;0.992;1.0	D;P;D	0.91635	0.999;0.877;0.999	T	0.77453	-0.2582	10	0.51188	T	0.08	-10.6303	11.7243	0.51700	0.4139:0.5861:0.0:0.0	.	511;511;536	Q13495-4;Q13495-3;Q13495	.;.;MAMD1_HUMAN	R	536;511;536;511;17	ENSP00000359428:P536R;ENSP00000414517:P511R;ENSP00000262858:P536R;ENSP00000397438:P511R;ENSP00000389106:P17R	ENSP00000262858:P536R	P	+	2	0	MAMLD1	149390110	0.972000	0.33761	0.658000	0.29665	0.261000	0.26267	2.404000	0.44539	2.298000	0.77334	0.529000	0.55759	CCA		0.542	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		13	32	13	32	---	---	---	---
