#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FAM86EP	348926	broad.mit.edu	37	4	3954855	3954855	+	RNA	SNP	G	G	T	rs545005986	byFrequency	TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr4:3954855G>T	ENST00000313946.8	-	0	137				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		AAAATATCCCGCCGCAGCTCA	0.493																																						ENST00000281228.8																			0																																																			0							g.chr4:3954855G>T			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3954855G>T						FAM86EP_ENST00000313946.8_RNA								0	143	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.493	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			4	78	1	0	0.014758	1	0.0151464	4	78				
MYLK	4638	broad.mit.edu	37	3	123419194	123419194	+	Missense_Mutation	SNP	C	C	T	rs568590920		TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr3:123419194C>T	ENST00000475616.1	-	15	3120	c.3121G>A	c.(3121-3123)Gcc>Acc	p.A1041T	MYLK_ENST00000360772.3_Missense_Mutation_p.A1041T|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360304.3_Missense_Mutation_p.A1041T|MYLK_ENST00000346322.5_Missense_Mutation_p.A972T|MYLK_ENST00000359169.1_Missense_Mutation_p.A1041T			Q15746	MYLK_HUMAN	myosin light chain kinase	1041	6 X 12 AA approximate tandem repeats.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCAGGCTTGGCGTTGCCCATT	0.552																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3121-3123)Gcc>Acc		myosin light chain kinase							167.0	173.0	171.0					3																	123419194		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419194C>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3121G>A	3.37:g.123419194C>T	ENSP00000418335:p.Ala1041Thr					MYLK_ENST00000475616.1_Missense_Mutation_p.A1041T|MYLK_ENST00000346322.5_Missense_Mutation_p.A972T|MYLK_ENST00000360304.3_Missense_Mutation_p.A1041T|MYLK_ENST00000359169.1_Missense_Mutation_p.A1041T	p.A1041T			Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	19	3499	-		Lung NSC(201;0.0496)	1041			6 X 12 AA approximate tandem repeats.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.3121G>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	6.877	0.531219	0.13127	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.72051	-0.57;-0.48;-0.57;-0.62;-0.48	5.64	0.763	0.18459	.	.	.	.	.	T	0.54967	0.1891	L	0.41824	1.3	0.20403	N	0.9999	B;B;P;B;P;B	0.50617	0.352;0.152;0.537;0.367;0.937;0.251	B;B;B;B;B;B	0.40940	0.046;0.03;0.057;0.074;0.344;0.018	T	0.46871	-0.9160	9	0.09843	T	0.71	.	9.373	0.38266	0.0:0.4868:0.0:0.5132	.	1041;119;972;1041;972;1041	Q15746-6;Q15746-7;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;.;MYLK_HUMAN	T	1041;1041;1041;972;1041	ENSP00000354004:A1041T;ENSP00000353452:A1041T;ENSP00000352088:A1041T;ENSP00000320622:A972T;ENSP00000418335:A1041T	ENSP00000320622:A972T	A	-	1	0	MYLK	124901884	0.036000	0.19791	0.066000	0.19879	0.260000	0.26232	0.256000	0.18351	-0.143000	0.11334	0.462000	0.41574	GCC		0.552	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		5	310	0	0	0	1	0	5	310				
PCDHA6	56142	broad.mit.edu	37	5	140209185	140209185	+	Silent	SNP	G	G	A			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr5:140209185G>A	ENST00000529310.1	+	1	1623	c.1509G>A	c.(1507-1509)gcG>gcA	p.A503A	PCDHA6_ENST00000527624.1_Silent_p.A503A|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCGCGCGTTGTCGAGCT	0.672																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1507-1509)gcG>gcA									53.0	59.0	57.0					5																	140209185		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140209185G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1509G>A	5.37:g.140209185G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.A503A|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.A503A	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1623	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1509G>A	CCDS47281.1																																																																																				0.672	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		24	125	0	0	0	1	0	24	125				
C1orf159	54991	broad.mit.edu	37	1	1019513	1019513	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr1:1019513C>T	ENST00000379339.1	-	11	1040	c.830G>A	c.(829-831)cGc>cAc	p.R277H	C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000482816.1_Intron|C1orf159_ENST00000294576.5_Missense_Mutation_p.R241H|C1orf159_ENST00000448924.1_Missense_Mutation_p.R277H|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000379320.1_Missense_Mutation_p.R241H			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	277	Pro-rich.					integral component of membrane (GO:0016021)						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TAAAGGGGGGCGGGCAGGGGG	0.657																																						ENST00000448924.1																			0											c.(829-831)cGc>cAc		chromosome 1 open reading frame 159							16.0	23.0	21.0					1																	1019513		2161	4257	6418	SO:0001583	missense	54991					integral to membrane		g.chr1:1019513C>T	AK128434	CCDS7.2	1p36.33	2008-02-05			ENSG00000131591	ENSG00000131591			26062	protein-coding gene	gene with protein product						12975309	Standard	NM_017891		Approved	FLJ20584	uc001acu.2	Q96HA4	OTTHUMG00000000745	ENST00000379339.1:c.830G>A	1.37:g.1019513C>T	ENSP00000368644:p.Arg277His					C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000482816.1_Intron|C1orf159_ENST00000379339.1_Missense_Mutation_p.R277H|C1orf159_ENST00000294576.5_Missense_Mutation_p.R241H|C1orf159_ENST00000379320.1_Missense_Mutation_p.R241H	p.R277H			Q96HA4	CA159_HUMAN		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	10	1261	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	277			Pro-rich.		B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0	Missense_Mutation	SNP	ENST00000379339.1	37	c.830G>A		.	.	.	.	.	.	.	.	.	.	C	9.914	1.210415	0.22289	.	.	ENSG00000131591	ENST00000379339;ENST00000448924;ENST00000294576;ENST00000379320	.	.	.	0.436	0.436	0.16549	.	.	.	.	.	T	0.46833	0.1413	.	.	.	0.09310	N	1	D;B	0.59767	0.986;0.001	P;B	0.53006	0.715;0.0	T	0.35425	-0.9789	6	0.87932	D	0	.	.	.	.	.	277;241	Q96HA4;Q5T2W9	CA159_HUMAN;.	H	277;277;241;241	.	ENSP00000294576:R241H	R	-	2	0	C1orf159	1009376	0.001000	0.12720	0.001000	0.08648	0.016000	0.09150	-0.108000	0.10857	0.468000	0.27243	0.205000	0.17691	CGC		0.657	C1orf159-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000001851.2	NM_017891		7	51	0	0	0	1	0	7	51				
VPS41	27072	broad.mit.edu	37	7	38807200	38807200	+	Splice_Site	SNP	T	T	C			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr7:38807200T>C	ENST00000310301.4	-	15	1240		c.e15-2		VPS41_ENST00000395969.2_Splice_Site	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)						Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GCCAATATCCTAGAGAAAGCC	0.368																																						ENST00000310301.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						c.e15-2		vacuolar protein sorting 41 homolog (S. cerevisiae)							74.0	70.0	71.0					7																	38807200		2203	4300	6503	SO:0001630	splice_region_variant	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38807200T>C	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1186-2A>G	7.37:g.38807200T>C						VPS41_ENST00000395969.2_Splice_Site		NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN			15	1240	-								E9PF36|Q86TP8|Q99851|Q99852	Splice_Site	SNP	ENST00000310301.4	37		CCDS5457.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.127415	0.77549	.	.	ENSG00000006715	ENST00000310301;ENST00000395969	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6156	0.76764	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS41	38773725	1.000000	0.71417	0.994000	0.49952	0.866000	0.49608	7.129000	0.77225	2.094000	0.63399	0.460000	0.39030	.		0.368	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3		Intron	9	58	0	0	0	1	0	9	58				
SCN7A	6332	broad.mit.edu	37	2	167279862	167279862	+	Silent	SNP	G	G	T			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr2:167279862G>T	ENST00000409855.1	-	18	3060	c.2934C>A	c.(2932-2934)atC>atA	p.I978I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	978					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	CCAGAATGAAGATATAAGTAA	0.323																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(2932-2934)atC>atA		sodium channel, voltage-gated, type VII, alpha subunit							82.0	77.0	78.0					2																	167279862		1923	4182	6105	SO:0001819	synonymous_variant	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167279862G>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2934C>A	2.37:g.167279862G>T							p.I978I	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			18	3060	-			978						Silent	SNP	ENST00000409855.1	37	c.2934C>A	CCDS46442.1																																																																																				0.323	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			6	50	1	0	0.0215528	1	0.0218327	6	50				
ZNF641	121274	broad.mit.edu	37	12	48741844	48741844	+	Silent	SNP	C	C	T			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr12:48741844C>T	ENST00000544117.2	-	2	780	c.72G>A	c.(70-72)ggG>ggA	p.G24G	ZNF641_ENST00000448928.3_Silent_p.G10G|RP11-370I10.6_ENST00000548257.1_RNA|ZNF641_ENST00000547026.1_Silent_p.G10G|ZNF641_ENST00000301042.3_Silent_p.G24G			Q96N77	ZN641_HUMAN	zinc finger protein 641	24					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						CCCATCCTGTCCCCAGCGCTG	0.517																																						ENST00000544117.2																			0				breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						c.(70-72)ggG>ggA		zinc finger protein 641							125.0	104.0	111.0					12																	48741844		2203	4300	6503	SO:0001819	synonymous_variant	121274				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr12:48741844C>T	BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"""Zinc fingers, C2H2-type"", ""-"""	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.72G>A	12.37:g.48741844C>T						ZNF641_ENST00000547026.1_Silent_p.G10G|ZNF641_ENST00000301042.3_Silent_p.G24G|ZNF641_ENST00000448928.3_Silent_p.G10G	p.G24G			Q96N77	ZN641_HUMAN			2	780	-			24					B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Silent	SNP	ENST00000544117.2	37	c.72G>A	CCDS8763.1																																																																																				0.517	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1	NM_152320		31	62	0	0	0	1	0	31	62				
AP5Z1	9907	broad.mit.edu	37	7	4824597	4824597	+	Silent	SNP	C	C	T	rs572271008	byFrequency	TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr7:4824597C>T	ENST00000348624.4	+	7	943	c.849C>T	c.(847-849)gcC>gcT	p.A283A	AP5Z1_ENST00000401897.1_Silent_p.A283A	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	283					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											CCTCCTCTGCCGGCCGCCTGC	0.667													C|||	2	0.000399361	0.0	0.0029	5008	,	,		14172	0.0		0.0	False		,,,				2504	0.0					ENST00000348624.4																			0											c.(847-849)gcC>gcT		adaptor-related protein complex 5, zeta 1 subunit							14.0	17.0	16.0					7																	4824597		1938	4117	6055	SO:0001819	synonymous_variant	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4824597C>T	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.849C>T	7.37:g.4824597C>T						AP5Z1_ENST00000401897.1_Silent_p.A283A	p.A283A	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN			7	943	+			283					Q8N3X2|Q96H80	Silent	SNP	ENST00000348624.4	37	c.849C>T	CCDS47528.1																																																																																				0.667	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			9	30	0	0	0	1	0	9	30				
TENM3	55714	broad.mit.edu	37	4	183710344	183710344	+	Silent	SNP	C	C	T			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr4:183710344C>T	ENST00000511685.1	+	25	5526	c.5403C>T	c.(5401-5403)taC>taT	p.Y1801Y	TENM3_ENST00000406950.2_Silent_p.Y1801Y			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1801					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGATCGCCTACGACACGTCTG	0.493																																						ENST00000511685.1																			0											c.(5401-5403)taC>taT		teneurin transmembrane protein 3							44.0	44.0	44.0					4																	183710344		1936	4143	6079	SO:0001819	synonymous_variant	55714							g.chr4:183710344C>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.5403C>T	4.37:g.183710344C>T						TENM3_ENST00000406950.2_Silent_p.Y1801Y	p.Y1801Y							25	5526	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.5403C>T	CCDS47165.1																																																																																				0.493	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			4	27	0	0	0	1	0	4	27				
COPB2	9276	broad.mit.edu	37	3	139077851	139077851	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr3:139077851G>A	ENST00000333188.5	-	19	2654	c.2473C>T	c.(2473-2475)Cca>Tca	p.P825S	COPB2_ENST00000507777.1_Missense_Mutation_p.P796S	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	825					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GTGACAAGTGGGTATTGTTTG	0.428																																						ENST00000333188.5																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(2473-2475)Cca>Tca		coatomer protein complex, subunit beta 2 (beta prime)							139.0	142.0	141.0					3																	139077851		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139077851G>A	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.2473C>T	3.37:g.139077851G>A	ENSP00000329419:p.Pro825Ser					COPB2_ENST00000507777.1_Missense_Mutation_p.P796S	p.P825S	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN			19	2654	-			825					B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.2473C>T	CCDS3108.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.59|15.59	2.880056|2.880056	0.51801|0.51801	.|.	.|.	ENSG00000184432|ENSG00000184432	ENST00000503326|ENST00000333188;ENST00000507777	.|T;T	.|0.62788	.|0.0;0.12	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.050281|0.050281	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.56093|0.56093	0.1962|0.1962	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	.|B	.|0.09022	.|0.002	.|B	.|0.06405	.|0.002	T|T	0.52586|0.52586	-0.8556|-0.8556	6|10	.|0.15499	.|T	.|0.54	-7.5439|-7.5439	18.5903|18.5903	0.91208|0.91208	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|825	.|P35606	.|COPB2_HUMAN	L|S	38|825;796	.|ENSP00000329419:P825S;ENSP00000422295:P796S	.|ENSP00000329419:P825S	P|P	-|-	2|1	0|0	COPB2|COPB2	140560541|140560541	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	7.462000|7.462000	0.80851|0.80851	2.382000|2.382000	0.81193|0.81193	0.655000|0.655000	0.94253|0.94253	CCC|CCA		0.428	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		11	117	0	0	0	1	0	11	117				
PLVAP	83483	broad.mit.edu	37	19	17487978	17487978	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr19:17487978G>C	ENST00000252590.4	-	1	181	c.120C>G	c.(118-120)atC>atG	p.I40M		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	40					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGAGCCCCAGGATGATGAGGA	0.617																																						ENST00000252590.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(118-120)atC>atG		plasmalemma vesicle associated protein							87.0	79.0	82.0					19																	17487978		2203	4300	6503	SO:0001583	missense	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17487978G>C	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.120C>G	19.37:g.17487978G>C	ENSP00000252590:p.Ile40Met						p.I40M	NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN			1	181	-			40					Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	c.120C>G	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	G	17.56	3.420108	0.62622	.	.	ENSG00000130300	ENST00000252590	T	0.37411	1.2	4.77	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.47340	0.1440	L	0.36672	1.1	0.32587	N	0.527693	D	0.89917	1.0	D	0.91635	0.999	T	0.58967	-0.7542	10	0.87932	D	0	-48.6692	10.709	0.45971	0.0941:0.0:0.9059:0.0	.	40	Q9BX97	PLVAP_HUMAN	M	40	ENSP00000252590:I40M	ENSP00000252590:I40M	I	-	3	3	PLVAP	17348978	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.549000	0.60726	1.143000	0.42306	0.561000	0.74099	ATC		0.617	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		33	75	0	0	0	1	0	33	75				
OR4C6	219432	broad.mit.edu	37	11	55433371	55433371	+	Silent	SNP	G	G	T	rs528437339	byFrequency	TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr11:55433371G>T	ENST00000314259.3	+	1	758	c.729G>T	c.(727-729)acG>acT	p.T243T		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CCCACCTCACGGTGGTTGTAT	0.493																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(727-729)acG>acT		olfactory receptor, family 4, subfamily C, member 6							119.0	118.0	118.0					11																	55433371		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433371G>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.729G>T	11.37:g.55433371G>T							p.T243T	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	758	+			243					B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.729G>T	CCDS31506.1																																																																																				0.493	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		71	111	1	0	1.63007e-36	1	1.86979e-36	71	111				
MED12	9968	broad.mit.edu	37	X	70348523	70348523	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chrX:70348523G>C	ENST00000374080.3	+	24	3462	c.3430G>C	c.(3430-3432)Gaa>Caa	p.E1144Q	MED12_ENST00000333646.6_Missense_Mutation_p.E1144Q|MED12_ENST00000374102.1_Missense_Mutation_p.E1144Q			Q93074	MED12_HUMAN	mediator complex subunit 12	1144					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTTGCTCCTGGAAGATCTGAT	0.468			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3430-3432)Gaa>Caa		mediator complex subunit 12							117.0	100.0	106.0					X																	70348523		2083	4203	6286	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70348523G>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3430G>C	X.37:g.70348523G>C	ENSP00000363193:p.Glu1144Gln		OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_ENST00000374080.3_Missense_Mutation_p.E1144Q|MED12_ENST00000374102.1_Missense_Mutation_p.E1144Q	p.E1144Q	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			24	3629	+	Renal(35;0.156)		1144					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3430G>C	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	26.0	4.693767	0.88735	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.36	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.56761	0.2007	L	0.42245	1.32	0.58432	D	0.999999	D;P;P;D	0.89917	0.999;0.604;0.537;1.0	D;B;B;D	0.87578	0.998;0.369;0.437;0.997	T	0.57429	-0.7813	10	0.45353	T	0.12	-16.0318	16.5341	0.84368	0.0:0.0:1.0:0.0	.	1144;991;1144;1144	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	Q	1144;1144;1144;1144;1112	ENSP00000333125:E1144Q;ENSP00000363215:E1144Q;ENSP00000363193:E1144Q;ENSP00000414203:E1112Q	ENSP00000333125:E1144Q	E	+	1	0	MED12	70265248	1.000000	0.71417	0.967000	0.41034	0.990000	0.78478	8.986000	0.93492	2.161000	0.67846	0.600000	0.82982	GAA		0.468	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		19	14	0	0	0	1	0	19	14				
GPR112	139378	broad.mit.edu	37	X	135428548	135428548	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chrX:135428548A>G	ENST00000394143.1	+	6	2974	c.2683A>G	c.(2683-2685)Acc>Gcc	p.T895A	GPR112_ENST00000412101.1_Missense_Mutation_p.T690A|GPR112_ENST00000370652.1_Missense_Mutation_p.T895A|GPR112_ENST00000287534.4_Missense_Mutation_p.T832A|GPR112_ENST00000394141.1_Missense_Mutation_p.T690A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	895					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAAGCTAAGTACCCCATTGGA	0.398																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(2683-2685)Acc>Gcc		G protein-coupled receptor 112							103.0	98.0	100.0					X																	135428548		2203	4299	6502	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135428548A>G	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2683A>G	X.37:g.135428548A>G	ENSP00000377699:p.Thr895Ala					GPR112_ENST00000287534.4_Missense_Mutation_p.T832A|GPR112_ENST00000412101.1_Missense_Mutation_p.T690A|GPR112_ENST00000394141.1_Missense_Mutation_p.T690A|GPR112_ENST00000370652.1_Missense_Mutation_p.T895A	p.T895A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	2974	+	Acute lymphoblastic leukemia(192;0.000127)		895					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.2683A>G	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	A	9.736	1.163588	0.21538	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.30182	1.57;1.57;1.54;1.67;1.54	3.1	-2.36	0.06663	.	.	.	.	.	T	0.21631	0.0521	L	0.32530	0.975	0.09310	N	1	P;B;P	0.36027	0.518;0.376;0.533	B;B;B	0.40375	0.327;0.058;0.131	T	0.27226	-1.0080	9	0.72032	D	0.01	.	3.2464	0.06798	0.3458:0.0:0.4327:0.2215	.	832;690;895	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	A	895;895;690;832;690	ENSP00000377699:T895A;ENSP00000359686:T895A;ENSP00000416526:T690A;ENSP00000287534:T832A;ENSP00000377697:T690A	ENSP00000287534:T832A	T	+	1	0	GPR112	135256214	0.000000	0.05858	0.000000	0.03702	0.258000	0.26162	-0.064000	0.11636	-0.483000	0.06772	0.235000	0.17854	ACC		0.398	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			71	34	0	0	0	1	0	71	34				
AMT	275	broad.mit.edu	37	3	49455030	49455030	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr3:49455030C>G	ENST00000273588.3	-	9	1457	c.1155G>C	c.(1153-1155)caG>caC	p.Q385H	AMT_ENST00000458307.2_Missense_Mutation_p.Q341H|AMT_ENST00000395338.2_Intron|AMT_ENST00000538581.1_Missense_Mutation_p.Q329H|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000546031.1_Missense_Mutation_p.Q288H	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	385					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|transaminase activity (GO:0008483)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Tetrahydrofolic acid(DB00116)	CTACAGCCATCTGCTGCTTCC	0.572																																						ENST00000273588.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6						c.(1153-1155)caG>caC		aminomethyltransferase	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						101.0	93.0	96.0					3																	49455030		2203	4300	6503	SO:0001583	missense	275				glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity	g.chr3:49455030C>G	D13811	CCDS2797.1, CCDS54583.1, CCDS54584.1, CCDS54585.1	3p21.2-p21.1	2014-09-17	2006-05-22		ENSG00000145020	ENSG00000145020	2.1.2.10		473	protein-coding gene	gene with protein product	"""glycine cleavage system protein T"""	238310	"""aminomethyltransferase (glycine cleavage system protein T)"""			1993704, 8188235	Standard	NM_000481		Approved	GCST, NKH	uc003cww.3	P48728	OTTHUMG00000156847	ENST00000273588.3:c.1155G>C	3.37:g.49455030C>G	ENSP00000273588:p.Gln385His					AMT_ENST00000538581.1_Missense_Mutation_p.Q329H|AMT_ENST00000395338.2_Intron|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000458307.2_Missense_Mutation_p.Q341H|AMT_ENST00000546031.1_Missense_Mutation_p.Q288H	p.Q385H	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1457	-			385					A8K3I5|B4DE61|B4DJQ0|E9PBG1|Q96IG6	Missense_Mutation	SNP	ENST00000273588.3	37	c.1155G>C	CCDS2797.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053996	0.36277	.	.	ENSG00000145020	ENST00000458307;ENST00000273588;ENST00000538581;ENST00000546031	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.18	3.3	0.37823	Glycine cleavage T-protein, C-terminal barrel (1);	0.132739	0.49916	D	0.000122	T	0.56761	0.2007	N	0.25094	0.71	0.35328	D	0.785367	B;B;B	0.15141	0.005;0.012;0.002	B;B;B	0.17979	0.012;0.02;0.007	T	0.53107	-0.8485	10	0.22109	T	0.4	-18.4385	8.4194	0.32692	0.0:0.7935:0.0:0.2065	.	329;341;385	B4DE61;B4DJQ0;P48728	.;.;GCST_HUMAN	H	341;385;329;288	ENSP00000415619:Q341H;ENSP00000273588:Q385H;ENSP00000443200:Q329H;ENSP00000440672:Q288H	ENSP00000273588:Q385H	Q	-	3	2	AMT	49430034	0.208000	0.23494	0.988000	0.46212	0.996000	0.88848	0.782000	0.26788	0.509000	0.28195	0.563000	0.77884	CAG		0.572	AMT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346216.2	NM_000481		32	137	0	0	0	1	0	32	137				
SAMD9L	219285	broad.mit.edu	37	7	92763568	92763568	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr7:92763568C>T	ENST00000318238.4	-	5	2933	c.1717G>A	c.(1717-1719)Gga>Aga	p.G573R	SAMD9L_ENST00000437805.1_Missense_Mutation_p.G573R|SAMD9L_ENST00000411955.1_Missense_Mutation_p.G573R	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	573					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTCCATTCCTTTGAGAGCT	0.353																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(1717-1719)Gga>Aga		sterile alpha motif domain containing 9-like							55.0	55.0	55.0					7																	92763568		2202	4298	6500	SO:0001583	missense	219285							g.chr7:92763568C>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1717G>A	7.37:g.92763568C>T	ENSP00000326247:p.Gly573Arg					SAMD9L_ENST00000437805.1_Missense_Mutation_p.G573R|SAMD9L_ENST00000411955.1_Missense_Mutation_p.G573R	p.G573R	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	2933	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		573					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1717G>A	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696841	0.68386	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.18502	2.21;2.21;2.21	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000003	T	0.42040	0.1185	M	0.66939	2.045	0.52099	D	0.999949	D	0.89917	1.0	D	0.91635	0.999	T	0.36040	-0.9764	10	0.87932	D	0	-18.3469	17.5192	0.87782	0.0:1.0:0.0:0.0	.	573	Q8IVG5	SAM9L_HUMAN	R	573	ENSP00000326247:G573R;ENSP00000405760:G573R;ENSP00000408796:G573R	ENSP00000326247:G573R	G	-	1	0	SAMD9L	92601504	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.798000	0.69095	2.466000	0.83321	0.467000	0.42956	GGA		0.353	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		17	51	0	0	0	1	0	17	51				
POM121L9P	29774	broad.mit.edu	37	22	24659741	24659741	+	RNA	SNP	G	G	A			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr22:24659741G>A	ENST00000414583.2	+	0	3266					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTGTGGGAGGGGGGAATGTTC	0.622																																						ENST00000414583.2																			0																																																			0							g.chr22:24659741G>A	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659741G>A								NR_003714.1						0	3266	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.622	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	27	0	0	0	1	0	3	27				
CNOT3	4849	broad.mit.edu	37	19	54646887	54646887	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr19:54646887G>A	ENST00000406403.1	+	2	1661	c.58G>A	c.(58-60)Gag>Aag	p.E20K	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.E20K			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	20					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.E20K(6)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAAGGTGTCCGAGGGCGTGGA	0.557																																						ENST00000406403.1																			6	Substitution - Missense(6)	p.E20K(6)	prostate(4)|urinary_tract(1)|haematopoietic_and_lymphoid_tissue(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28						c.(58-60)Gag>Aag		CCR4-NOT transcription complex, subunit 3							171.0	172.0	171.0					19																	54646887		2203	4300	6503	SO:0001583	missense	4849				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr19:54646887G>A	AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.58G>A	19.37:g.54646887G>A	ENSP00000383954:p.Glu20Lys					CNOT3_ENST00000221232.5_Missense_Mutation_p.E20K|CNOT3_ENST00000358389.3_5'UTR	p.E20K			O75175	CNOT3_HUMAN			2	1661	+	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		20					Q9NZN7|Q9UF76	Missense_Mutation	SNP	ENST00000406403.1	37	c.58G>A	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	35	5.507003	0.96386	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.72725	-0.68;-0.68	5.04	5.04	0.67666	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.85788	0.5778	M	0.85299	2.745	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.993	D	0.88178	0.2869	10	0.87932	D	0	-31.302	17.5375	0.87837	0.0:0.0:1.0:0.0	.	20;20	B7Z6J7;O75175	.;CNOT3_HUMAN	K	20	ENSP00000221232:E20K;ENSP00000383954:E20K	ENSP00000221232:E20K	E	+	1	0	CNOT3	59338699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.832000	0.92079	2.512000	0.84698	0.655000	0.94253	GAG		0.557	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142130.3	NM_014516		89	198	0	0	0	1	0	89	198				
IPPK	64768	broad.mit.edu	37	9	95403027	95403027	+	Silent	SNP	G	G	A			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr9:95403027G>A	ENST00000287996.3	-	8	877	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L	IPPK_ENST00000375522.1_5'Flank	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	201					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GCCTCCTGCAGCAAACTCTTC	0.448																																						ENST00000287996.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						c.(601-603)Ctg>Ttg		inositol 1,3,4,5,6-pentakisphosphate 2-kinase							157.0	151.0	153.0					9																	95403027		2203	4300	6503	SO:0001819	synonymous_variant	64768				inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity	g.chr9:95403027G>A	AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 12"""	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.601C>T	9.37:g.95403027G>A							p.L201L	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN			8	877	-			201					Q5T9F7|Q9H7V8	Silent	SNP	ENST00000287996.3	37	c.601C>T	CCDS6699.1																																																																																				0.448	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053101.1	NM_022755		4	128	0	0	0	1	0	4	128				
TAB1	10454	broad.mit.edu	37	22	39826029	39826029	+	Silent	SNP	G	G	A			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr22:39826029G>A	ENST00000216160.6	+	11	1379	c.1317G>A	c.(1315-1317)ccG>ccA	p.P439P	TAB1_ENST00000331454.3_Intron	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	439					activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart morphogenesis (GO:0003007)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lung development (GO:0030324)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|protein complex (GO:0043234)	catalytic activity (GO:0003824)|enzyme activator activity (GO:0008047)|kinase activator activity (GO:0019209)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GCCAAAGCCCGACCTTAACCC	0.662																																						ENST00000216160.6																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						c.(1315-1317)ccG>ccA		TGF-beta activated kinase 1/MAP3K7 binding protein 1							67.0	66.0	66.0					22																	39826029		2203	4300	6503	SO:0001819	synonymous_variant	10454				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding	g.chr22:39826029G>A	U49928	CCDS13992.1, CCDS13993.1	22q13.1	2010-02-05	2010-02-05	2010-02-05	ENSG00000100324	ENSG00000100324			18157	protein-coding gene	gene with protein product	"""TAK1-binding protein 1"", ""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	602615	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 1"""	MAP3K7IP1		8638164, 10187861	Standard	NM_153497		Approved		uc003axt.3	Q15750	OTTHUMG00000151102	ENST00000216160.6:c.1317G>A	22.37:g.39826029G>A						TAB1_ENST00000331454.3_Intron	p.P439P	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN			11	1379	+			439					Q2PP09|Q8IZW2	Silent	SNP	ENST00000216160.6	37	c.1317G>A	CCDS13993.1																																																																																				0.662	TAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321313.1	NM_153497		9	131	0	0	0	1	0	9	131				
FAM86EP	348926	broad.mit.edu	37	4	3954857	3954857	+	RNA	SNP	C	C	A	rs17410899		TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr4:3954857C>A	ENST00000313946.8	-	0	135				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		AATATCCCGCCGCAGCTCAGA	0.488																																						ENST00000281228.8																			0																																																			0							g.chr4:3954857C>A			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3954857C>A						FAM86EP_ENST00000313946.8_RNA								0	141	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.488	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			4	78	1	0	0.000602214	1	0.000626303	4	78				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	80	0	0	0	1	0	4	80				
LMTK2	22853	broad.mit.edu	37	7	97784178	97784178	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr7:97784178G>A	ENST00000297293.5	+	5	852	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	187	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAAAAATGGAGAACCTTACTA	0.418																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(559-561)Gaa>Aaa		lemur tyrosine kinase 2							123.0	116.0	119.0					7																	97784178		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97784178G>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.559G>A	7.37:g.97784178G>A	ENSP00000297293:p.Glu187Lys						p.E187K	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			5	852	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		187			Protein kinase.		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.559G>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743059	0.89663	.	.	ENSG00000164715	ENST00000297293	D	0.81996	-1.56	5.31	5.31	0.75309	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049196	0.85682	D	0.000000	T	0.74997	0.3790	N	0.16790	0.44	0.54753	D	0.999981	P	0.45768	0.866	B	0.42959	0.403	T	0.79711	-0.1689	10	0.62326	D	0.03	.	16.4706	0.84111	0.0:0.0:1.0:0.0	.	187	Q8IWU2	LMTK2_HUMAN	K	187	ENSP00000297293:E187K	ENSP00000297293:E187K	E	+	1	0	LMTK2	97622114	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.458000	0.66679	2.456000	0.83038	0.467000	0.42956	GAA		0.418	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		19	162	0	0	0	1	0	19	162				
SNX29	92017	broad.mit.edu	37	16	12293501	12293501	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr16:12293501G>T	ENST00000566228.1	+	14	1708	c.1639G>T	c.(1639-1641)Gct>Tct	p.A547S	SNX29_ENST00000306030.3_Missense_Mutation_p.A162S|SNX29_ENST00000323433.4_Missense_Mutation_p.A162S	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	547						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ATATGTAGGAGCTGTCCAGAT	0.463											OREG0006853	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=LOC92017|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000566228.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						c.(1639-1641)Gct>Tct		sorting nexin 29							46.0	45.0	46.0					16																	12293501		1871	4113	5984	SO:0001583	missense	92017				cell communication		phosphatidylinositol binding	g.chr16:12293501G>T	AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.1639G>T	16.37:g.12293501G>T	ENSP00000456480:p.Ala547Ser		OREG0006853	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=LOC92017|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	678	SNX29_ENST00000306030.3_Missense_Mutation_p.A162S|SNX29_ENST00000323433.4_Missense_Mutation_p.A162S	p.A547S	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN			14	1708	+			162					B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	ENST00000566228.1	37	c.1639G>T	CCDS10553.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528638	0.85706	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.68329	0.2989	M	0.77103	2.36	0.28094	N	0.931679	D	0.76494	0.999	D	0.76071	0.987	T	0.64676	-0.6351	9	0.45353	T	0.12	-10.1314	14.6517	0.68803	0.0:0.0:1.0:0.0	.	547	Q8TEQ0	SNX29_HUMAN	S	162	.	ENSP00000306940:A162S	A	+	1	0	SNX29	12201002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.144000	0.77357	2.514000	0.84764	0.655000	0.94253	GCT		0.463	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422622.1			3	39	1	0	1	1	1	3	39				
CES1	1066	broad.mit.edu	37	16	55846952	55846952	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr16:55846952G>T	ENST00000361503.4	-	9	1076	c.946C>A	c.(946-948)Caa>Aaa	p.Q316K	CES1_ENST00000422046.2_Missense_Mutation_p.Q316K|CES1_ENST00000360526.3_Missense_Mutation_p.Q317K			P23141	EST1_HUMAN	carboxylesterase 1	316					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	AGAAGGGGTTGACTCTGGGGA	0.547																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(946-948)Caa>Aaa		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						97.0	93.0	94.0					16																	55846952		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55846952G>T	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.946C>A	16.37:g.55846952G>T	ENSP00000355193:p.Gln316Lys					CES1_ENST00000360526.3_Missense_Mutation_p.Q317K|CES1_ENST00000361503.4_Missense_Mutation_p.Q316K	p.Q316K			P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	9	1227	-			316					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.946C>A	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	6.408	0.443347	0.12164	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.11169	2.97;2.97;2.8	3.85	-7.71	0.01254	Carboxylesterase, type B (1);	.	.	.	.	T	0.04003	0.0112	N	0.05383	-0.06	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.42120	-0.9470	9	0.42905	T	0.14	.	4.9949	0.14233	0.6515:0.1129:0.1222:0.1133	.	316;316;317	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	K	317;316;316;181	ENSP00000353720:Q317K;ENSP00000355193:Q316K;ENSP00000390492:Q316K	ENSP00000353720:Q317K	Q	-	1	0	CES1	54404453	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.404000	0.02494	-1.588000	0.01627	-1.668000	0.00747	CAA		0.547	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		18	98	1	0	4.96729e-08	1	5.30752e-08	18	98				
FLT1	2321	broad.mit.edu	37	13	28919630	28919630	+	Silent	SNP	C	C	T	rs142392658		TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr13:28919630C>T	ENST00000282397.4	-	16	2558	c.2307G>A	c.(2305-2307)gcG>gcA	p.A769A	FLT1_ENST00000540678.1_5'UTR	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	769					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGAAGAGAGTCGCAGCCACAC	0.398																																						ENST00000282397.4																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(2305-2307)gcG>gcA		fms-related tyrosine kinase 1	Sunitinib(DB01268)	C		0,4406		0,0,2203	61.0	61.0	61.0		2307	-9.2	0.4	13	dbSNP_134	61	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	FLT1	NM_002019.4		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		769/1339	28919630	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28919630C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2307G>A	13.37:g.28919630C>T						FLT1_ENST00000540678.1_5'UTR	p.A769A	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	16	2558	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	769					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.2307G>A	CCDS9330.1																																																																																				0.398	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			8	18	0	0	0	1	0	8	18				
LRP1B	53353	broad.mit.edu	37	2	141215220	141215220	+	Splice_Site	SNP	A	A	G			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr2:141215220A>G	ENST00000389484.3	-	61	10597	c.9626T>C	c.(9625-9627)gTc>gCc	p.V3209A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3209					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGATTAGGGACTGTAATAGG	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.e61-1		low density lipoprotein receptor-related protein 1B							145.0	133.0	137.0					2																	141215220		2203	4300	6503	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141215220A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9626-1T>C	2.37:g.141215220A>G		TSP Lung(27;0.18)					p.V3209_splice	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	61	10597	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3209					Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37	c.9625_splice	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.537040	0.65085	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91740	-2.9	5.19	5.19	0.71726	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000003	D	0.95746	0.8616	M	0.80847	2.515	0.54753	D	0.999982	D	0.58970	0.984	D	0.68192	0.956	D	0.95901	0.8915	10	0.54805	T	0.06	.	15.0629	0.71970	1.0:0.0:0.0:0.0	.	3209	Q9NZR2	LRP1B_HUMAN	A	3209;3147	ENSP00000374135:V3209A	ENSP00000374135:V3209A	V	-	2	0	LRP1B	140931690	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.307000	0.96226	1.952000	0.56665	0.533000	0.62120	GTC		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Missense_Mutation	10	116	0	0	0	1	0	10	116				
CCKAR	886	broad.mit.edu	37	4	26484871	26484871	+	Missense_Mutation	SNP	G	G	C	rs201996688		TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr4:26484871G>C	ENST00000295589.3	-	4	855	c.661C>G	c.(661-663)Cct>Gct	p.P221A		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	221					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ACAATTCCAGGAATAAGAAAG	0.378																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(661-663)Cct>Gct		cholecystokinin A receptor	Ceruletide(DB00403)						113.0	117.0	116.0					4																	26484871		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26484871G>C	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.661C>G	4.37:g.26484871G>C	ENSP00000295589:p.Pro221Ala						p.P221A	NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN			4	855	-		Breast(46;0.0503)	221					B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.661C>G	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619643	0.87460	.	.	ENSG00000163394	ENST00000295589	T	0.56275	0.47	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84942	0.5584	H	0.98996	4.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90925	0.4786	10	0.87932	D	0	.	19.6202	0.95653	0.0:0.0:1.0:0.0	.	221	P32238	CCKAR_HUMAN	A	221	ENSP00000295589:P221A	ENSP00000295589:P221A	P	-	1	0	CCKAR	26093969	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.460000	0.97641	2.639000	0.89480	0.557000	0.71058	CCT		0.378	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			20	115	0	0	0	1	0	20	115				
KMT2C	58508	broad.mit.edu	37	7	151970809	151970809	+	Silent	SNP	A	A	T			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr7:151970809A>T	ENST00000262189.6	-	7	1211	c.993T>A	c.(991-993)atT>atA	p.I331I	KMT2C_ENST00000355193.2_Silent_p.I331I	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	331					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GAGCTTGGTCAATGTGTTCTG	0.393																																						ENST00000355193.2																			0											c.(991-993)atT>atA		lysine (K)-specific methyltransferase 2C							240.0	224.0	229.0					7																	151970809		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151970809A>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.993T>A	7.37:g.151970809A>T						KMT2C_ENST00000262189.6_Silent_p.I331I	p.I331I							7	1211	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.993T>A	CCDS5931.1																																																																																				0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			9	320	0	0	0	1	0	9	320				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			4	79	0	0	0	1	0	4	79				
PLEKHG3	26030	broad.mit.edu	37	14	65194559	65194559	+	Silent	SNP	C	C	T	rs551678656		TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr14:65194559C>T	ENST00000394691.1	+	2	357	c.210C>T	c.(208-210)aaC>aaT	p.N70N	PLEKHG3_ENST00000247226.7_Silent_p.N70N			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	70							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCTGGTTGAACGTGAAGGGGC	0.652													c|||	1	0.000199681	0.0008	0.0	5008	,	,		16651	0.0		0.0	False		,,,				2504	0.0					ENST00000247226.7																			0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(208-210)aaC>aaT		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							35.0	35.0	35.0					14																	65194559		2201	4300	6501	SO:0001819	synonymous_variant	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65194559C>T	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.210C>T	14.37:g.65194559C>T						PLEKHG3_ENST00000394691.1_Silent_p.N70N	p.N70N	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	2	518	+			70					A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37	c.210C>T																																																																																					0.652	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	NM_015549		7	39	0	0	0	1	0	7	39				
OR3A3	8392	broad.mit.edu	37	17	3324770	3324770	+	Silent	SNP	T	T	C			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr17:3324770T>C	ENST00000291231.1	+	1	909	c.909T>C	c.(907-909)aaT>aaC	p.N303N		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	303					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						GCCTCAGAAATACTGATGTTC	0.498																																						ENST00000291231.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(907-909)aaT>aaC		olfactory receptor, family 3, subfamily A, member 3							78.0	79.0	79.0					17																	3324770		2203	4300	6503	SO:0001819	synonymous_variant	8392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3324770T>C	U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"""GPCR / Class A : Olfactory receptors"""	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.909T>C	17.37:g.3324770T>C							p.N303N	NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN			1	909	+			303					Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Silent	SNP	ENST00000291231.1	37	c.909T>C	CCDS11025.1																																																																																				0.498	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207309.1			25	81	0	0	0	1	0	25	81				
MUC4	4585	broad.mit.edu	37	3	195507220	195507220	+	Missense_Mutation	SNP	G	G	A	rs532961620		TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr3:195507220G>A	ENST00000463781.3	-	2	11690	c.11231C>T	c.(11230-11232)cCt>cTt	p.P3744L	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P3744L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACAGGAAGAGGGGTGACGTG	0.582																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(11230-11232)cCt>cTt		mucin 4, cell surface associated							30.0	28.0	28.0					3																	195507220		683	1583	2266	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195507220G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11231C>T	3.37:g.195507220G>A	ENSP00000417498:p.Pro3744Leu					MUC4_ENST00000475231.1_Missense_Mutation_p.P3744L|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.P3744L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	11690	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	536					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.11231C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	6.703	0.498296	0.12762	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.68331	-0.02;-0.32	0.885	-1.47	0.08772	.	0.555598	0.09973	U	0.732028	T	0.41743	0.1172	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.19224	-1.0312	9	.	.	.	.	2.2855	0.04125	0.2865:0.3322:0.3813:0.0	.	3616	E7ESK3	.	L	3744	ENSP00000417498:P3744L;ENSP00000420243:P3744L	.	P	-	2	0	MUC4	196991999	0.000000	0.05858	0.024000	0.17045	0.047000	0.14425	-1.055000	0.03493	0.413000	0.25759	0.064000	0.15345	CCT		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	6	0	0	0	1	0	3	6				
RBM23	55147	broad.mit.edu	37	14	23374621	23374621	+	Missense_Mutation	SNP	C	C	T	rs572895941	byFrequency	TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr14:23374621C>T	ENST00000359890.3	-	7	692	c.497G>A	c.(496-498)cGc>cAc	p.R166H	RBM23_ENST00000555209.1_5'UTR|RBM23_ENST00000542016.2_5'UTR|RBM23_ENST00000556984.1_5'Flank|RBM23_ENST00000346528.5_Missense_Mutation_p.R132H|RBM23_ENST00000399922.2_Missense_Mutation_p.R150H	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	166	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GAAAACTGTGCGGGCATCACG	0.507													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19990	0.0		0.0	False		,,,				2504	0.0					ENST00000359890.3																			0				endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10						c.(496-498)cGc>cAc		RNA binding motif protein 23							108.0	104.0	106.0					14																	23374621		1941	4137	6078	SO:0001583	missense	0				mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr14:23374621C>T	AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.497G>A	14.37:g.23374621C>T	ENSP00000352956:p.Arg166His					RBM23_ENST00000555209.1_5'UTR|RBM23_ENST00000346528.5_Missense_Mutation_p.R132H|RBM23_ENST00000542016.2_5'UTR|RBM23_ENST00000399922.2_Missense_Mutation_p.R150H	p.R166H	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN		GBM - Glioblastoma multiforme(265;0.0128)	7	692	-	all_cancers(95;4.69e-05)		166			RRM 1.		D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Missense_Mutation	SNP	ENST00000359890.3	37	c.497G>A	CCDS41921.1	.	.	.	.	.	.	.	.	.	.	C	35	5.433406	0.96150	.	.	ENSG00000100461	ENST00000359890;ENST00000338980;ENST00000399922;ENST00000346528	T;T;T	0.79454	-1.27;1.12;0.83	5.12	5.12	0.69794	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.089733	0.47455	D	0.000223	D	0.91459	0.7304	H	0.94582	3.555	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.985;0.999;0.999;0.999	D	0.93547	0.6883	10	0.87932	D	0	-4.9366	17.5007	0.87731	0.0:1.0:0.0:0.0	.	166;132;150;166	Q86U06-3;Q86U06-4;Q86U06-2;Q86U06	.;.;.;RBM23_HUMAN	H	166;143;150;132	ENSP00000352956:R166H;ENSP00000382806:R150H;ENSP00000339220:R132H	ENSP00000305783:R166H	R	-	2	0	RBM23	22444461	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	6.858000	0.75461	2.669000	0.90835	0.655000	0.94253	CGC		0.507	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3			4	152	0	0	0	1	0	4	152				
TENM3	55714	broad.mit.edu	37	4	183676360	183676360	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr4:183676360A>T	ENST00000511685.1	+	22	4963	c.4840A>T	c.(4840-4842)Agt>Tgt	p.S1614C	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.S1614C			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1614					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CCATGGCAATAGTGGCCTTTT	0.333																																						ENST00000511685.1																			0											c.(4840-4842)Agt>Tgt		teneurin transmembrane protein 3							86.0	85.0	85.0					4																	183676360		1893	4133	6026	SO:0001583	missense	55714							g.chr4:183676360A>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4840A>T	4.37:g.183676360A>T	ENSP00000424226:p.Ser1614Cys					TENM3_ENST00000406950.2_Missense_Mutation_p.S1614C|TENM3_ENST00000502950.1_3'UTR	p.S1614C							22	4963	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.4840A>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.497766	0.64186	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.18657	2.2;2.2	5.28	5.28	0.74379	.	.	.	.	.	T	0.32882	0.0844	M	0.63843	1.955	0.53688	D	0.999979	D	0.58620	0.983	P	0.49561	0.615	T	0.12091	-1.0561	9	0.87932	D	0	.	15.3703	0.74557	1.0:0.0:0.0:0.0	.	1614	Q9P273	TEN3_HUMAN	C	1614	ENSP00000424226:S1614C;ENSP00000385276:S1614C	ENSP00000385276:S1614C	S	+	1	0	ODZ3	183913354	1.000000	0.71417	0.903000	0.35520	0.766000	0.43426	7.132000	0.77251	2.210000	0.71456	0.455000	0.32223	AGT		0.333	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			15	34	0	0	0	1	0	15	34				
PLPPR2	64748	broad.mit.edu	37	19	11472140	11472140	+	Silent	SNP	C	C	T			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr19:11472140C>T	ENST00000251473.5	+	6	1015	c.639C>T	c.(637-639)tgC>tgT	p.C213C	DKFZP761J1410_ENST00000591608.1_Silent_p.C188C	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CGGCCCTCTGCGCCTACGCGG	0.697																																						ENST00000251473.5																			0											c.(637-639)tgC>tgT									26.0	30.0	28.0					19																	11472140		2198	4270	6468	SO:0001819	synonymous_variant	0							g.chr19:11472140C>T																												ENST00000251473.5:c.639C>T	19.37:g.11472140C>T						DKFZP761J1410_ENST00000591608.1_Silent_p.C188C	p.C213C	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2					6	1015	+									Silent	SNP	ENST00000251473.5	37	c.639C>T	CCDS12258.1																																																																																				0.697	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			9	65	0	0	0	1	0	9	65				
PTCHD2	57540	broad.mit.edu	37	1	11576180	11576180	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr1:11576180A>G	ENST00000294484.6	+	6	1849	c.1711A>G	c.(1711-1713)Acc>Gcc	p.T571A	PTCHD2_ENST00000389575.3_Missense_Mutation_p.T571A	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	571	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CACCTCCCTGACCACAGCCGC	0.622																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(1711-1713)Acc>Gcc		patched domain containing 2							88.0	103.0	98.0					1																	11576180		2176	4263	6439	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11576180A>G	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1711A>G	1.37:g.11576180A>G	ENSP00000294484:p.Thr571Ala					PTCHD2_ENST00000389575.3_Missense_Mutation_p.T571A	p.T571A	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	6	1849	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	571			SSD.		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.1711A>G	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.527066	0.85706	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.93953	-3.32;-3.32	5.5	5.5	0.81552	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.96433	0.8836	M	0.79614	2.46	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.96821	0.9604	10	0.66056	D	0.02	-51.1442	14.7888	0.69824	1.0:0.0:0.0:0.0	.	571	Q9P2K9	PTHD2_HUMAN	A	571	ENSP00000294484:T571A;ENSP00000374226:T571A	ENSP00000294484:T571A	T	+	1	0	PTCHD2	11498767	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	8.767000	0.91732	2.094000	0.63399	0.454000	0.30748	ACC		0.622	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		17	74	0	0	0	1	0	17	74				
PRKD1	5587	broad.mit.edu	37	14	30132963	30132963	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr14:30132963C>G	ENST00000331968.5	-	4	867	c.638G>C	c.(637-639)aGc>aCc	p.S213T	PRKD1_ENST00000415220.2_Missense_Mutation_p.S213T	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	213					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GCGGATGGTGCTGACCCCAGT	0.488																																						ENST00000331968.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(637-639)aGc>aCc		protein kinase D1							213.0	207.0	209.0					14																	30132963		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30132963C>G		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.638G>C	14.37:g.30132963C>G	ENSP00000333568:p.Ser213Thr					PRKD1_ENST00000415220.2_Missense_Mutation_p.S213T	p.S213T	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	4	867	-	Hepatocellular(127;0.0604)		213					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.638G>C	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	10.28	1.306354	0.23736	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	T;T	0.67523	-0.27;-0.22	5.93	5.02	0.67125	.	0.458260	0.25014	N	0.033805	T	0.50240	0.1604	N	0.17474	0.49	0.33703	D	0.614763	B	0.06786	0.001	B	0.06405	0.002	T	0.51980	-0.8636	10	0.15499	T	0.54	-6.735	16.7833	0.85567	0.0:0.7873:0.2127:0.0	.	213	Q15139	KPCD1_HUMAN	T	213	ENSP00000333568:S213T;ENSP00000390535:S213T	ENSP00000333568:S213T	S	-	2	0	PRKD1	29202714	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	0.748000	0.26305	2.805000	0.96524	0.655000	0.94253	AGC		0.488	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		26	185	0	0	0	1	0	26	185				
RTP1	132112	broad.mit.edu	37	3	186917771	186917771	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr3:186917771C>A	ENST00000312295.4	+	2	735	c.705C>A	c.(703-705)aaC>aaA	p.N235K	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	235					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CAGGCTGGAACTTCTGCTCTA	0.602																																						ENST00000312295.4																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(703-705)aaC>aaA		receptor (chemosensory) transporter protein 1							79.0	74.0	76.0					3																	186917771		2203	4300	6503	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917771C>A	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.705C>A	3.37:g.186917771C>A	ENSP00000311712:p.Asn235Lys					RP11-208N14.4_ENST00000356133.3_RNA	p.N235K	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	735	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		235						Missense_Mutation	SNP	ENST00000312295.4	37	c.705C>A	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745474	0.49151	.	.	ENSG00000175077	ENST00000312295	T	0.24538	1.85	5.74	3.86	0.44501	.	0.067115	0.64402	D	0.000012	T	0.13329	0.0323	L	0.27053	0.805	0.26981	N	0.965369	P	0.43094	0.799	B	0.30401	0.115	T	0.10543	-1.0625	10	0.40728	T	0.16	.	8.5867	0.33662	0.0:0.8149:0.0:0.1851	.	235	P59025	RTP1_HUMAN	K	235	ENSP00000311712:N235K	ENSP00000311712:N235K	N	+	3	2	RTP1	188400465	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.606000	0.24194	0.701000	0.31803	0.655000	0.94253	AAC		0.602	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		35	71	1	0	2.09667e-21	1	2.33628e-21	35	71				
ERO1LB	56605	broad.mit.edu	37	1	236399660	236399660	+	Silent	SNP	G	G	A			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr1:236399660G>A	ENST00000354619.5	-	7	745	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	ERO1LB_ENST00000327333.8_3'UTR	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	182					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	TCTGGGTTCAGCAATAGGTCT	0.418																																						ENST00000354619.5																			0				NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23						c.(544-546)Ctg>Ttg		ERO1-like beta (S. cerevisiae)							141.0	144.0	143.0					1																	236399660		2203	4300	6503	SO:0001819	synonymous_variant	56605				electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	g.chr1:236399660G>A	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.544C>T	1.37:g.236399660G>A						ERO1LB_ENST00000327333.8_3'UTR	p.L182L	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		7	745	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	182					B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Silent	SNP	ENST00000354619.5	37	c.544C>T	CCDS31064.1																																																																																				0.418	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		29	131	0	0	0	1	0	29	131				
PLAA	9373	broad.mit.edu	37	9	26905927	26905927	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr9:26905927A>G	ENST00000397292.3	-	14	2387	c.1970T>C	c.(1969-1971)cTg>cCg	p.L657P		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	657	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GAGAGCAAGCAGCTGGTTTGC	0.458																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(1969-1971)cTg>cCg		phospholipase A2-activating protein							67.0	68.0	68.0					9																	26905927		2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26905927A>G	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1970T>C	9.37:g.26905927A>G	ENSP00000380460:p.Leu657Pro						p.L657P	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	14	2387	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	657			PUL.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.1970T>C	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	A	19.68	3.873401	0.72180	.	.	ENSG00000137055	ENST00000397292	T	0.51071	0.72	6.07	6.07	0.98685	PUL (2);	0.163302	0.53938	D	0.000047	T	0.66655	0.2811	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68712	-0.5336	10	0.87932	D	0	-6.0542	16.6406	0.85098	1.0:0.0:0.0:0.0	.	657	Q9Y263	PLAP_HUMAN	P	657	ENSP00000380460:L657P	ENSP00000380460:L657P	L	-	2	0	PLAA	26895927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.718000	0.91430	2.326000	0.78906	0.533000	0.62120	CTG		0.458	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		27	56	0	0	0	1	0	27	56				
DPP10	57628	broad.mit.edu	37	2	116497321	116497321	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr2:116497321T>C	ENST00000410059.1	+	9	1184	c.704T>C	c.(703-705)cTc>cCc	p.L235P	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Missense_Mutation_p.L185P|DPP10_ENST00000310323.8_Missense_Mutation_p.L228P|DPP10_ENST00000393147.2_Missense_Mutation_p.L239P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	235						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CTAGAGGAACTCCTGCATTCT	0.458																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(703-705)cTc>cCc		dipeptidyl-peptidase 10 (non-functional)							126.0	118.0	120.0					2																	116497321		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116497321T>C	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.704T>C	2.37:g.116497321T>C	ENSP00000386565:p.Leu235Pro					DPP10_ENST00000310323.8_Missense_Mutation_p.L228P|DPP10_ENST00000393147.2_Missense_Mutation_p.L239P|DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000409163.1_Missense_Mutation_p.L185P	p.L235P	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			9	1184	+			235					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.704T>C	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.224313	0.79576	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393146;ENST00000393147;ENST00000310323;ENST00000476155	T;T;D;T;T	0.96168	1.48;1.48;-3.93;1.48;1.48	5.1	5.1	0.69264	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.259874	0.38837	N	0.001552	D	0.92097	0.7495	N	0.08118	0	0.80722	D	1	P;P;P;P	0.48589	0.855;0.912;0.88;0.88	P;P;P;P	0.50791	0.468;0.65;0.603;0.603	D	0.93900	0.7187	10	0.87932	D	0	-31.0348	14.5113	0.67789	0.0:0.0:0.0:1.0	.	228;239;231;235	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	P	235;185;231;239;228;185	ENSP00000386565:L235P;ENSP00000387038:L185P;ENSP00000376854:L231P;ENSP00000376855:L239P;ENSP00000309066:L228P	ENSP00000309066:L228P	L	+	2	0	DPP10	116213791	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	7.825000	0.86693	2.270000	0.75569	0.460000	0.39030	CTC		0.458	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		35	76	0	0	0	1	0	35	76				
PES1	23481	broad.mit.edu	37	22	30976074	30976074	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr22:30976074C>T	ENST00000405677.1	-	13	1661	c.718G>A	c.(718-720)Gac>Aac	p.D240N	PES1_ENST00000402281.1_Missense_Mutation_p.D240N|PES1_ENST00000335214.6_Missense_Mutation_p.D374N|PES1_ENST00000402284.3_Missense_Mutation_p.D362N|PES1_ENST00000354694.7_Missense_Mutation_p.D379N	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CCAGGCCGGTCGACAATCTGA	0.572																																						ENST00000402281.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(718-720)Gac>Aac		pescadillo ribosomal biogenesis factor 1							147.0	141.0	143.0					22																	30976074		2203	4300	6503	SO:0001583	missense	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30976074C>T	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.718G>A	22.37:g.30976074C>T	ENSP00000385654:p.Asp240Asn					PES1_ENST00000402284.3_Missense_Mutation_p.D362N|PES1_ENST00000354694.6_Missense_Mutation_p.D379N|PES1_ENST00000405677.1_Missense_Mutation_p.D240N|PES1_ENST00000335214.6_Missense_Mutation_p.D374N	p.D240N			O00541	PESC_HUMAN			13	1709	-			379			Sufficient for nucleolar localization.			Missense_Mutation	SNP	ENST00000405677.1	37	c.718G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.803052	0.96960	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.28	5.28	0.74379	BRCT (4);	0.000000	0.85682	D	0.000000	T	0.71187	0.3310	M	0.93898	3.47	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;1.0	T	0.79995	-0.1568	10	0.87932	D	0	-42.0393	18.5307	0.90990	0.0:1.0:0.0:0.0	.	379;362;374;379	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	N	379;240;240;362;374	ENSP00000346725:D379N;ENSP00000384366:D240N;ENSP00000385654:D240N;ENSP00000384252:D362N;ENSP00000334612:D374N	ENSP00000334612:D374N	D	-	1	0	PES1	29306074	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	7.656000	0.83736	2.467000	0.83353	0.655000	0.94253	GAC		0.572	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303		63	143	0	0	0	1	0	63	143				
ZNF140	7699	broad.mit.edu	37	12	133683237	133683237	+	Nonstop_Mutation	SNP	A	A	C			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr12:133683237A>C	ENST00000355557.2	+	5	2657	c.1374A>C	c.(1372-1374)tgA>tgC	p.*458C	ZNF140_ENST00000440550.2_3'UTR|ZNF140_ENST00000544426.1_Nonstop_Mutation_p.*355C	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AACACCAGTGAATTTACACTG	0.343																																						ENST00000355557.2																			0				NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(1372-1374)tgA>tgC		zinc finger protein 140							41.0	44.0	43.0					12																	133683237		2176	4238	6414	SO:0001578	stop_lost	7699					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:133683237A>C	U09368	CCDS9282.1, CCDS73550.1	12q24.33	2013-01-08	2006-06-13		ENSG00000196387	ENSG00000196387		"""Zinc fingers, C2H2-type"", ""-"""	12925	protein-coding gene	gene with protein product		604082	"""zinc finger protein 140 (clone pHZ-39)"""			7557990	Standard	XR_245353		Approved	pHZ-39	uc001ulo.3	P52738	OTTHUMG00000167942	ENST00000355557.2:c.1374A>C	12.37:g.133683237A>C	ENSP00000347755:p.*458Cysext*39					ZNF140_ENST00000440550.2_3'UTR|ZNF140_ENST00000544426.1_Nonstop_Mutation_p.*355C	p.*458C	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	2657	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)	0					D3DXJ3|Q05CP6|Q8IV75	Nonstop_Mutation	SNP	ENST00000355557.2	37	c.1374A>C	CCDS9282.1	.	.	.	.	.	.	.	.	.	.	A	8.443	0.851251	0.17034	.	.	ENSG00000196387	ENST00000355557;ENST00000544426	.	.	.	2.82	2.82	0.32997	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7121	0.28684	0.7874:0.2125:0.0:0.0	.	.	.	.	C	458;355	.	.	X	+	3	0	ZNF140	132193310	0.001000	0.12720	0.926000	0.36857	0.647000	0.38526	-0.157000	0.10085	1.544000	0.49359	0.460000	0.39030	TGA		0.343	ZNF140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397169.1	NM_003440		16	36	0	0	0	1	0	16	36				
AACSP1	729522	broad.mit.edu	37	5	178194303	178194303	+	RNA	SNP	C	C	T			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr5:178194303C>T	ENST00000503486.2	-	0	1334					NR_024035.1				acetoacetyl-CoA synthetase pseudogene 1																		ATCTGTTTGACGGCAACTTCC	0.522																																						ENST00000503486.2																			0																																																			0							g.chr5:178194303C>T			5q35	2010-09-29	2010-09-29	2010-09-29	ENSG00000250420	ENSG00000250420			18226	pseudogene	pseudogene			"""acetoacetyl-CoA synthetase-like"""	AACSL			Standard	NR_024035		Approved		uc011dgl.2		OTTHUMG00000163584		5.37:g.178194303C>T								NR_024035.1						0	1334	-									RNA	SNP	ENST00000503486.2	37																																																																																						0.522	AACSP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000374392.2	NR_024035		5	25	0	0	0	1	0	5	25				
LMF2	91289	broad.mit.edu	37	22	50943380	50943380	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr22:50943380C>T	ENST00000474879.2	-	10	1303	c.1288G>A	c.(1288-1290)Ggg>Agg	p.G430R	LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000216080.5_Missense_Mutation_p.G405R|LMF2_ENST00000380796.3_Intron	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	430						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGAGGCGCCCGTGGGTCCCG	0.697																																						ENST00000216080.5																			0				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(1213-1215)Ggg>Agg		lipase maturation factor 2							14.0	17.0	16.0					22																	50943380		2177	4283	6460	SO:0001583	missense	91289					endoplasmic reticulum membrane|integral to membrane		g.chr22:50943380C>T	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.1288G>A	22.37:g.50943380C>T	ENSP00000424381:p.Gly430Arg					LMF2_ENST00000474879.2_Missense_Mutation_p.G430R|LMF2_ENST00000380796.3_Intron	p.G405R			Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	10	1381	-		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	430					A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	ENST00000474879.2	37	c.1213G>A	CCDS14093.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.58|13.58	2.280485|2.280485	0.40294|0.40294	.|.	.|.	ENSG00000100258|ENSG00000100258	ENST00000474879;ENST00000216080|ENST00000487499	T;T|.	0.22336|.	1.96;1.96|.	4.84|4.84	2.35|2.35	0.29111|0.29111	.|.	0.067926|.	0.64402|.	D|.	0.000019|.	T|T	0.46560|0.46560	0.1399|0.1399	M|M	0.62154|0.62154	1.92|1.92	0.24488|0.24488	N|N	0.99431|0.99431	B;P|.	0.35700|.	0.246;0.516|.	B;B|.	0.28991|.	0.097;0.063|.	T|T	0.33548|0.33548	-0.9864|-0.9864	10|5	0.72032|.	D|.	0.01|.	-1.1614|-1.1614	9.413|9.413	0.38503|0.38503	0.0:0.7867:0.0:0.2133|0.0:0.7867:0.0:0.2133	.|.	430;405|.	Q9BU23;Q9BU23-2|.	LMF2_HUMAN;.|.	R|Q	430;405|436	ENSP00000424381:G430R;ENSP00000216080:G405R|.	ENSP00000216080:G405R|.	G|R	-|-	1|2	0|0	LMF2|LMF2	49290246|49290246	0.002000|0.002000	0.14202|0.14202	0.704000|0.704000	0.30370|0.30370	0.600000|0.600000	0.36913|0.36913	0.096000|0.096000	0.15147|0.15147	1.023000|1.023000	0.39654|0.39654	0.650000|0.650000	0.86243|0.86243	GGG|CGG		0.697	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200		10	14	0	0	0	1	0	10	14				
MTL5	9633	broad.mit.edu	37	11	68480780	68480780	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr11:68480780G>T	ENST00000255087.5	-	8	1299	c.1116C>A	c.(1114-1116)tgC>tgA	p.C372*		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	372	CRC. {ECO:0000255|PROSITE- ProRule:PRU00971}.				cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.C372*(1)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTGACCTCCTGCAGTTGCACC	0.478																																						ENST00000255087.5																			1	Substitution - Nonsense(1)	p.C372*(1)	lung(1)	breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15						c.(1114-1116)tgC>tgA		metallothionein-like 5, testis-specific (tesmin)							175.0	169.0	171.0					11																	68480780		2200	4294	6494	SO:0001587	stop_gained	9633				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	g.chr11:68480780G>T	U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.1116C>A	11.37:g.68480780G>T	ENSP00000255087:p.Cys372*						p.C372*	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)		8	1299	-	Esophageal squamous(3;4.37e-12)		372			CXC 2.		A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Nonsense_Mutation	SNP	ENST00000255087.5	37	c.1116C>A	CCDS8184.1	.	.	.	.	.	.	.	.	.	.	G	9.308	1.054939	0.19907	.	.	ENSG00000132749	ENST00000255087	.	.	.	4.45	-3.53	0.04667	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0893	12.9933	0.58632	0.2923:0.0:0.7077:0.0	.	.	.	.	X	372	.	ENSP00000255087:C372X	C	-	3	2	MTL5	68237356	1.000000	0.71417	0.037000	0.18230	0.022000	0.10575	0.993000	0.29680	-0.526000	0.06383	-0.378000	0.06908	TGC		0.478	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396844.1	NM_004923		82	196	1	0	3.14276e-30	1	3.55269e-30	82	196				
UGDH	7358	broad.mit.edu	37	4	39506062	39506062	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr4:39506062A>G	ENST00000316423.6	-	10	1580	c.1238T>C	c.(1237-1239)aTt>aCt	p.I413T	UGDH_ENST00000507089.1_Missense_Mutation_p.I316T|UGDH_ENST00000501493.2_Missense_Mutation_p.I346T|UGDH_ENST00000506179.1_Missense_Mutation_p.I413T	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	413					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						CTCAGTGCAAATAACAACAGC	0.408																																						ENST00000316423.6																			0				breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						c.(1237-1239)aTt>aCt		UDP-glucose 6-dehydrogenase	NADH(DB00157)						111.0	100.0	104.0					4																	39506062		2203	4300	6503	SO:0001583	missense	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39506062A>G	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.1238T>C	4.37:g.39506062A>G	ENSP00000319501:p.Ile413Thr					UGDH_ENST00000501493.2_Missense_Mutation_p.I346T|UGDH_ENST00000506179.1_Missense_Mutation_p.I413T|UGDH_ENST00000507089.1_Missense_Mutation_p.I316T	p.I413T	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN			10	1580	-			413					B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	37	c.1238T>C	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.353455	0.82243	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000507089	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	5.62	4.45	0.53987	UDP-glucose/GDP-mannose dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.90511	0.7027	M	0.92691	3.335	0.80722	D	1	D;P	0.67145	0.996;0.846	D;P	0.67548	0.952;0.792	D	0.91143	0.4947	10	0.72032	D	0.01	-9.8327	10.6433	0.45604	0.9258:0.0:0.0742:0.0	.	346;413	B3KUU2;O60701	.;UGDH_HUMAN	T	413;346;413;316	ENSP00000319501:I413T;ENSP00000422909:I346T;ENSP00000421757:I413T;ENSP00000426560:I316T	ENSP00000319501:I413T	I	-	2	0	UGDH	39182457	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	8.867000	0.92314	0.978000	0.38470	0.528000	0.53228	ATT		0.408	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		3	28	0	0	0	1	0	3	28				
ZNF692	55657	broad.mit.edu	37	1	249150721	249150721	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr1:249150721C>G	ENST00000306601.4	-	5	682	c.516G>C	c.(514-516)agG>agC	p.R172S	ZNF692_ENST00000427146.1_Missense_Mutation_p.R172S|ZNF692_ENST00000366471.3_Missense_Mutation_p.R172S|ZNF692_ENST00000366469.5_Missense_Mutation_p.R172S|ZNF692_ENST00000451251.1_Missense_Mutation_p.R177S|AL672294.1_ENST00000417047.1_RNA|ZNF692_ENST00000468455.1_5'UTR	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	172					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			ACCTGGGCAACCTGGCCTCTT	0.527																																						ENST00000451251.1																			0				endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17						c.(529-531)agG>agC		zinc finger protein 692							158.0	147.0	151.0					1																	249150721		2203	4300	6503	SO:0001583	missense	55657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:249150721C>G	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.516G>C	1.37:g.249150721C>G	ENSP00000305483:p.Arg172Ser					ZNF692_ENST00000366471.3_Missense_Mutation_p.R172S|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000306601.4_Missense_Mutation_p.R172S|ZNF692_ENST00000427146.1_Missense_Mutation_p.R172S|ZNF692_ENST00000366469.5_Missense_Mutation_p.R172S	p.R177S	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		5	876	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	172					B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Missense_Mutation	SNP	ENST00000306601.4	37	c.531G>C	CCDS31127.1	.	.	.	.	.	.	.	.	.	.	C	8.200	0.798034	0.16327	.	.	ENSG00000171163	ENST00000306601;ENST00000427146;ENST00000366471;ENST00000366469;ENST00000451251	T;T;T;T;T	0.07021	3.25;3.3;3.3;3.23;3.23	4.18	2.27	0.28462	.	0.636414	0.15494	N	0.259402	T	0.07683	0.0193	L	0.57536	1.79	0.09310	N	1	B;B;B	0.17268	0.012;0.021;0.012	B;B;B	0.11329	0.006;0.006;0.006	T	0.40040	-0.9584	10	0.15066	T	0.55	-5.232	4.9802	0.14160	0.2235:0.6683:0.0:0.1082	.	177;172;172	B4DXZ0;Q9BU19-2;Q9BU19	.;.;ZN692_HUMAN	S	172;172;172;172;177	ENSP00000305483:R172S;ENSP00000390044:R172S;ENSP00000355427:R172S;ENSP00000355425:R172S;ENSP00000391200:R177S	ENSP00000305483:R172S	R	-	3	2	ZNF692	247117344	0.000000	0.05858	0.015000	0.15790	0.976000	0.68499	0.428000	0.21395	0.687000	0.31509	0.462000	0.41574	AGG		0.527	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097298.1	NM_017865		9	77	0	0	0	1	0	9	77				
POM121	9883	broad.mit.edu	37	7	72400574	72400574	+	Silent	SNP	T	T	G			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr7:72400574T>G	ENST00000434423.2	+	5	1200	c.1200T>G	c.(1198-1200)gcT>gcG	p.A400A	POM121_ENST00000395270.1_Silent_p.A135A|POM121_ENST00000446813.1_Silent_p.A135A|POM121_ENST00000257622.4_Silent_p.A135A|POM121_ENST00000358357.3_Silent_p.A135A			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	400	Pore side. {ECO:0000255}.|Ser-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TGACAGGCGCTTACGCAAGTG	0.512																																						ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(403-405)gcT>gcG		POM121 transmembrane nucleoporin							193.0	200.0	197.0					7																	72400574		2203	4300	6503	SO:0001819	synonymous_variant	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72400574T>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.1200T>G	7.37:g.72400574T>G						POM121_ENST00000446813.1_Silent_p.A135A|POM121_ENST00000257622.4_Silent_p.A135A|POM121_ENST00000358357.3_Silent_p.A135A|POM121_ENST00000434423.2_Silent_p.A400A	p.A135A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			8	1446	+		Lung NSC(55;0.163)	400			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	37	c.405T>G																																																																																					0.512	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			68	237	0	0	0	1	0	68	237				
EMR3	84658	broad.mit.edu	37	19	14774336	14774336	+	Silent	SNP	G	G	A			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr19:14774336G>A	ENST00000253673.5	-	3	193	c.93C>T	c.(91-93)tgC>tgT	p.C31C	EMR3_ENST00000344373.4_Silent_p.C31C|EMR3_ENST00000443157.2_Silent_p.C31C|EMR3_ENST00000599900.1_5'UTR	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	31	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CATTTGGGGGGCACTTAGCAC	0.488																																						ENST00000253673.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						c.(91-93)tgC>tgT		egf-like module containing, mucin-like, hormone receptor-like 3							93.0	85.0	88.0					19																	14774336		2203	4300	6503	SO:0001819	synonymous_variant	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14774336G>A	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.93C>T	19.37:g.14774336G>A						EMR3_ENST00000443157.2_Silent_p.C31C|EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Silent_p.C31C	p.C31C	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN			3	193	-			31			EGF-like 1.			Silent	SNP	ENST00000253673.5	37	c.93C>T	CCDS12315.1																																																																																				0.488	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		20	46	0	0	0	1	0	20	46				
NOTUM	147111	broad.mit.edu	37	17	79914844	79914844	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr17:79914844A>G	ENST00000409678.3	-	7	1185	c.802T>C	c.(802-804)Ttc>Ctc	p.F268L		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	268						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TTGTCCAGGAACCAGCCGGAG	0.667																																						ENST00000409678.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15						c.(802-804)Ttc>Ctc		notum pectinacetylesterase homolog (Drosophila)							113.0	86.0	95.0					17																	79914844		2203	4300	6503	SO:0001583	missense	147111					extracellular region	hydrolase activity	g.chr17:79914844A>G	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.802T>C	17.37:g.79914844A>G	ENSP00000387310:p.Phe268Leu						p.F268L	NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		7	1185	-	all_neural(118;0.0878)|Ovarian(332;0.12)		268					Q8N410|Q8NI82	Missense_Mutation	SNP	ENST00000409678.3	37	c.802T>C	CCDS32771.2	.	.	.	.	.	.	.	.	.	.	A	34	5.366324	0.95900	.	.	ENSG00000185269	ENST00000409678;ENST00000425009	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.77498	0.4139	M	0.83603	2.65	0.80722	D	1	D	0.59767	0.986	P	0.60117	0.869	T	0.82004	-0.0672	9	0.87932	D	0	.	13.9697	0.64233	1.0:0.0:0.0:0.0	.	268	Q6P988	NOTUM_HUMAN	L	268	.	ENSP00000387310:F268L	F	-	1	0	NOTUM	77508134	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.667000	0.91153	1.693000	0.51124	0.402000	0.26972	TTC		0.667	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2	NM_178493		11	36	0	0	0	1	0	11	36				
FAT4	79633	broad.mit.edu	37	4	126336325	126336325	+	Silent	SNP	T	T	C			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr4:126336325T>C	ENST00000394329.3	+	5	6220	c.6207T>C	c.(6205-6207)gtT>gtC	p.V2069V	FAT4_ENST00000335110.5_Silent_p.V367V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2069	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATACTGTTGTTTTCAAAGCTC	0.393																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6205-6207)gtT>gtC		FAT atypical cadherin 4							142.0	144.0	143.0					4																	126336325		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336325T>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6207T>C	4.37:g.126336325T>C						FAT4_ENST00000335110.5_Silent_p.V367V	p.V2069V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			5	6220	+			2069			Cadherin 20.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.6207T>C	CCDS3732.3																																																																																				0.393	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		4	237	0	0	0	1	0	4	237				
GRIN2C	2905	broad.mit.edu	37	17	72846785	72846785	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr17:72846785G>A	ENST00000293190.5	-	5	1381	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	GRIN2C_ENST00000578159.1_5'Flank|GRIN2C_ENST00000347612.4_Missense_Mutation_p.P412L	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	412					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GATGACAAAGGGCCGCTCTTC	0.632																																						ENST00000293190.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1234-1236)cCc>cTc		glutamate receptor, ionotropic, N-methyl D-aspartate 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						72.0	63.0	66.0					17																	72846785		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72846785G>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1235C>T	17.37:g.72846785G>A	ENSP00000293190:p.Pro412Leu					GRIN2C_ENST00000347612.4_Missense_Mutation_p.P412L	p.P412L	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN			5	1381	-	all_lung(278;0.172)|Lung NSC(278;0.207)		412					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.1235C>T	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790304	0.31685	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.69561	-0.41	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.84451	0.5475	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88038	0.2779	10	0.87932	D	0	.	17.1007	0.86648	0.0:0.0:1.0:0.0	.	446;412	Q8IW23;Q14957	.;NMDE3_HUMAN	L	412;446	ENSP00000293190:P412L	ENSP00000293190:P412L	P	-	2	0	GRIN2C	70358380	1.000000	0.71417	1.000000	0.80357	0.027000	0.11550	9.470000	0.97683	2.430000	0.82344	0.555000	0.69702	CCC		0.632	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			8	94	0	0	0	1	0	8	94				
TIE1	7075	broad.mit.edu	37	1	43777678	43777678	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr1:43777678G>T	ENST00000372476.3	+	11	1585	c.1506G>T	c.(1504-1506)gaG>gaT	p.E502D	TIE1_ENST00000433781.2_Missense_Mutation_p.E147D	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	502	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCCCAGTGAGAACGTGACGT	0.597																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(1504-1506)gaG>gaT		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							107.0	101.0	103.0					1																	43777678		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43777678G>T	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1506G>T	1.37:g.43777678G>T	ENSP00000361554:p.Glu502Asp					TIE1_ENST00000433781.2_Missense_Mutation_p.E147D	p.E502D	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			11	1585	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	502			Fibronectin type-III 1.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1506G>T	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741176	0.49151	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.59906	0.23;0.23	5.37	3.1	0.35709	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40469	N	0.001083	T	0.61110	0.2321	L	0.52759	1.655	0.45194	D	0.998205	P;D;P;P;D	0.54964	0.873;0.961;0.889;0.896;0.969	B;P;B;P;P	0.57324	0.439;0.764;0.426;0.575;0.818	T	0.58901	-0.7554	10	0.37606	T	0.19	.	8.8667	0.35291	0.3275:0.0:0.6725:0.0	.	147;457;502;147;502	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	D	502;147	ENSP00000361554:E502D;ENSP00000411728:E147D	ENSP00000361554:E502D	E	+	3	2	TIE1	43550265	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	0.880000	0.28159	1.402000	0.46780	0.563000	0.77884	GAG		0.597	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		22	123	1	0	3.28513e-13	1	3.60901e-13	22	123				
SBSN	374897	broad.mit.edu	37	19	36015769	36015769	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr19:36015769C>T	ENST00000452271.2	-	2	1724	c.1696G>A	c.(1696-1698)Gcc>Acc	p.A566T	SBSN_ENST00000518157.1_Missense_Mutation_p.A223T	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	566						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACCCCAGAGGCTAACGGCGTG	0.602																																						ENST00000452271.2																			0				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14						c.(1696-1698)Gcc>Acc		suprabasin							105.0	97.0	100.0					19																	36015769		2203	4300	6503	SO:0001583	missense	374897					extracellular region		g.chr19:36015769C>T	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1696G>A	19.37:g.36015769C>T	ENSP00000430242:p.Ala566Thr					SBSN_ENST00000518157.1_Missense_Mutation_p.A223T	p.A566T	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	1724	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		223					A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	37	c.1696G>A	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	C	3.208	-0.162172	0.06502	.	.	ENSG00000189001	ENST00000452271;ENST00000518157	T;T	0.44881	0.92;0.91	3.32	-2.66	0.06077	.	1.669180	0.04386	N	0.361666	T	0.18425	0.0442	N	0.04508	-0.205	0.09310	N	1	B;B	0.13145	0.0;0.007	B;B	0.08055	0.001;0.003	T	0.09885	-1.0654	10	0.30078	T	0.28	.	3.44	0.07460	0.1889:0.4615:0.0:0.3496	.	223;566	Q6UWP8;E9PBV3	SBSN_HUMAN;.	T	566;223	ENSP00000430242:A566T;ENSP00000428771:A223T	ENSP00000430242:A566T	A	-	1	0	SBSN	40707609	0.065000	0.20965	0.025000	0.17156	0.032000	0.12392	-0.126000	0.10563	-0.588000	0.05882	-0.361000	0.07541	GCC		0.602	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		5	29	0	0	0	1	0	5	29				
NPIPA5	100288332	broad.mit.edu	37	16	15457735	15457735	+	Silent	SNP	C	C	T			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr16:15457735C>T	ENST00000360151.4	-	8	833	c.834G>A	c.(832-834)gcG>gcA	p.A278A		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	278	Pro-rich.																GATTATCATCCGCTGAGGGTG	0.532																																						ENST00000360151.4																			0											c.(832-834)gcG>gcA		nuclear pore complex interacting protein family, member A5																																				SO:0001819	synonymous_variant	100288332							g.chr16:15457735C>T		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.834G>A	16.37:g.15457735C>T							p.A278A	NM_001277325.1	NP_001264254.1					8	833	-								Q0P618	Silent	SNP	ENST00000360151.4	37	c.834G>A	CCDS59264.1																																																																																				0.532	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			5	204	0	0	0	1	0	5	204				
LOC440040	440040	broad.mit.edu	37	11	49598439	49598439	+	RNA	SNP	A	A	G			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr11:49598439A>G	ENST00000527477.1	+	0	1043																											GGACCTATGTATCAGCCGTAC	0.413																																						ENST00000527477.1																			0																																																			0							g.chr11:49598439A>G																													11.37:g.49598439A>G														0	1043	+									RNA	SNP	ENST00000527477.1	37																																																																																						0.413	RP11-707M1.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000391378.2			15	42	0	0	0	1	0	15	42				
KRBA1	84626	broad.mit.edu	37	7	149430771	149430771	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr7:149430771C>T	ENST00000485033.2	+	15	2545	c.2545C>T	c.(2545-2547)Cgg>Tgg	p.R849W	KRBA1_ENST00000255992.10_Missense_Mutation_p.R909W|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.R849W			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	910										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACCGCTCGCCGGGCACGTCC	0.662																																						ENST00000255992.10																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27						c.(2725-2727)Cgg>Tgg		KRAB-A domain containing 1							11.0	14.0	13.0					7																	149430771		2159	4255	6414	SO:0001583	missense	84626							g.chr7:149430771C>T	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2545C>T	7.37:g.149430771C>T	ENSP00000420112:p.Arg849Trp					KRBA1_ENST00000319551.8_Missense_Mutation_p.R849W|KRBA1_ENST00000485033.2_Missense_Mutation_p.R849W|KRBA1_ENST00000479560.1_3'UTR	p.R909W	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		18	3124	+	Melanoma(164;0.165)|Ovarian(565;0.177)		910					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37	c.2725C>T		.	.	.	.	.	.	.	.	.	.	C	15.72	2.916343	0.52546	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.31510	1.49;1.49;1.49	4.67	1.11	0.20524	.	1.630830	0.03993	N	0.295247	T	0.30541	0.0768	.	.	.	0.09310	N	1	D;D	0.63880	0.993;0.993	B;P	0.46975	0.431;0.533	T	0.17018	-1.0383	9	0.59425	D	0.04	0.9358	3.2514	0.06815	0.1821:0.5487:0.1574:0.1118	.	849;910	E7ENE9;A5PL33	.;KRBA1_HUMAN	W	909;849;849	ENSP00000255992:R909W;ENSP00000317165:R849W;ENSP00000420112:R849W	ENSP00000255992:R909W	R	+	1	2	KRBA1	149061704	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.965000	0.29319	0.366000	0.24427	0.609000	0.83330	CGG		0.662	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		3	7	0	0	0	1	0	3	7				
OR3A3	8392	broad.mit.edu	37	17	3324771	3324771	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr17:3324771A>C	ENST00000291231.1	+	1	910	c.910A>C	c.(910-912)Act>Cct	p.T304P		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	304					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CCTCAGAAATACTGATGTTCA	0.498																																						ENST00000291231.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						c.(910-912)Act>Cct		olfactory receptor, family 3, subfamily A, member 3							78.0	79.0	78.0					17																	3324771		2203	4300	6503	SO:0001583	missense	8392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3324771A>C	U04688	CCDS11025.1	17p13.3	2012-08-09			ENSG00000159961	ENSG00000159961		"""GPCR / Class A : Olfactory receptors"""	8284	protein-coding gene	gene with protein product				OR3A6, OR3A7, OR3A8P		8004088, 9500546	Standard	NM_012373		Approved	OR17-201, OR17-137, OR17-16	uc010vrd.2	P47888	OTTHUMG00000090649	ENST00000291231.1:c.910A>C	17.37:g.3324771A>C	ENSP00000291231:p.Thr304Pro						p.T304P	NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN			1	910	+			304					Q2VPE4|Q6IFM6|Q9P1Q4|Q9UBE7	Missense_Mutation	SNP	ENST00000291231.1	37	c.910A>C	CCDS11025.1	.	.	.	.	.	.	.	.	.	.	.	1.340	-0.594357	0.03771	.	.	ENSG00000159961	ENST00000291231	T	0.35973	1.28	2.56	-1.08	0.09936	.	.	.	.	.	T	0.14527	0.0351	N	0.05158	-0.105	0.19300	N	0.99998	B	0.02656	0.0	B	0.01281	0.0	T	0.20974	-1.0259	9	0.31617	T	0.26	.	3.7636	0.08613	0.511:0.2479:0.0:0.2411	.	304	P47888	OR3A3_HUMAN	P	304	ENSP00000291231:T304P	ENSP00000291231:T304P	T	+	1	0	OR3A3	3271521	0.000000	0.05858	0.574000	0.28523	0.608000	0.37181	0.066000	0.14489	-0.225000	0.09913	-0.333000	0.08304	ACT		0.498	OR3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207309.1			24	82	0	0	0	1	0	24	82				
MROH2B	133558	broad.mit.edu	37	5	41048475	41048475	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr5:41048475C>A	ENST00000399564.4	-	16	2085	c.1635G>T	c.(1633-1635)ttG>ttT	p.L545F	MROH2B_ENST00000506092.2_Missense_Mutation_p.L100F	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	545																	ATAGGTCTACCAATTTTGGGT	0.478																																						ENST00000399564.4																			0											c.(1633-1635)ttG>ttT		maestro heat-like repeat family member 2B							144.0	135.0	138.0					5																	41048475		1883	4115	5998	SO:0001583	missense	133558							g.chr5:41048475C>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1635G>T	5.37:g.41048475C>A	ENSP00000382476:p.Leu545Phe					MROH2B_ENST00000506092.2_Missense_Mutation_p.L100F	p.L545F	NM_173489.4	NP_775760.3					16	2085	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1635G>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554834	0.65425	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.12672	2.66;2.66	4.87	1.14	0.20703	Armadillo-type fold (1);	0.370005	0.19908	N	0.103359	T	0.28928	0.0718	M	0.65498	2.005	0.35096	D	0.764797	D	0.76494	0.999	D	0.87578	0.998	T	0.30149	-0.9988	10	0.72032	D	0.01	.	6.3067	0.21143	0.0:0.5962:0.0:0.4038	.	545	Q7Z745	HTRB2_HUMAN	F	100;249;545	ENSP00000441504:L100F;ENSP00000382476:L545F	ENSP00000296803:L249F	L	-	3	2	HEATR7B2	41084232	0.208000	0.23494	0.949000	0.38748	0.952000	0.60782	0.335000	0.19806	0.353000	0.24079	0.655000	0.94253	TTG		0.478	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		21	58	1	0	1.22574e-08	1	1.32788e-08	21	58				
ADAM21	8747	broad.mit.edu	37	14	70924676	70924676	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr14:70924676T>C	ENST00000603540.1	+	2	718	c.460T>C	c.(460-462)Ttt>Ctt	p.F154L	ADAM21_ENST00000267499.3_Missense_Mutation_p.F154L|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	154					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTCTGCCACATTTGAACACCT	0.423																																						ENST00000603540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(460-462)Ttt>Ctt		ADAM metallopeptidase domain 21							42.0	52.0	49.0					14																	70924676		2194	4300	6494	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70924676T>C	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.460T>C	14.37:g.70924676T>C	ENSP00000474385:p.Phe154Leu					ADAM21_ENST00000267499.3_Missense_Mutation_p.F154L|RP11-486O13.4_ENST00000556646.1_lincRNA	p.F154L	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	718	+			154					O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.460T>C	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	T	15.57	2.873476	0.51695	.	.	ENSG00000139985	ENST00000267499	T	0.06294	3.32	3.76	3.76	0.43208	Peptidase M12B, propeptide (1);	0.148676	0.30338	N	0.009846	T	0.24392	0.0591	M	0.82823	2.61	0.35923	D	0.831979	D	0.55172	0.97	D	0.64595	0.927	T	0.36286	-0.9754	10	0.72032	D	0.01	.	12.9081	0.58164	0.0:0.0:0.0:1.0	.	154	Q9UKJ8	ADA21_HUMAN	L	154	ENSP00000267499:F154L	ENSP00000267499:F154L	F	+	1	0	ADAM21	69994429	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	4.910000	0.63321	1.697000	0.51169	0.455000	0.32223	TTT		0.423	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			19	83	0	0	0	1	0	19	83				
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-	rs531015144|rs539372318	byFrequency	TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TCAATTGTTCGTGTGTGTGTGT	0.356														5	0.000998403	0.0023	0.0	5008	,	,		19637	0.002		0.0	False		,,,				2504	0.0					ENST00000443402.2																			0																,	19,1,3534		0,0,19,0,1,1757					,	-0.1	0.0			199	9,6,7813		1,0,7,0,6,3900	no	intron,intron	TARP	NM_001003806.1,NM_001003799.1	,	1,0,26,0,7,5657	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1916,0.5627,0.3075	,	,		28,7,11347						0							g.chr7:38301855_38301856delGT	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38301865_38301866delGT								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	330	-									RNA	DEL	ENST00000443402.2	37																																																																																						0.356	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		13	324						13	324	---	---	---	---
STEAP2-AS1	100874100	broad.mit.edu	37	7	89748927	89748928	+	RNA	INS	-	-	C	rs58370593	byFrequency	TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr7:89748927_89748928insC	ENST00000478318.2	-	0	424				RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA					STEAP2 antisense RNA 1																		GGTGCGGGCCTCCCCCTTCCCC	0.639													?|CCCCC|CCCCCC|unsure	3349	0.66873	0.7171	0.621	5008	,	,		14308	0.8095		0.5199	False		,,,				2504	0.6452					ENST00000478318.2																			0																																																			0							g.chr7:89748927_89748928insC			7q21.13	2012-10-12	2012-08-15		ENSG00000227646	ENSG00000227646		"""Long non-coding RNAs"""	40820	non-coding RNA	RNA, long non-coding			"""STEAP2 antisense RNA 1 (non-protein coding)"""				Standard	NR_110029		Approved				OTTHUMG00000065036		7.37:g.89748932_89748932dupC						DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA								0	424	-									RNA	INS	ENST00000478318.2	37																																																																																						0.639	STEAP2-AS1-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000350909.2			7	6						7	6	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6679301	6679302	+	RNA	DEL	CA	CA	-	rs370394378		TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr8:6679301_6679302delCA	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGCATTGGTGcacacacacaca	0.401																																						ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5																																						389610					integral to membrane		g.chr8:6679301_6679302delCA	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6679311_6679312delCA										Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	958	-								Q5GH74	RNA	DEL	ENST00000518724.1	37																																																																																						0.401	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		2	4						2	4	---	---	---	---
RP11-941H19.3	0	broad.mit.edu	37	8	81213789	81213792	+	lincRNA	DEL	CACA	CACA	-	rs539520358|rs549558736|rs71266069|rs62517186	byFrequency	TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr8:81213789_81213792delCACA	ENST00000522044.1	+	0	404																											CCCCCACCACcacacacacacaca	0.544																																						ENST00000522044.1																			0																																																			0							g.chr8:81213789_81213792delCACA																													8.37:g.81213797_81213800delCACA														0	404	+									RNA	DEL	ENST00000522044.1	37																																																																																						0.544	RP11-941H19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000379180.1			2	4						2	4	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89692968	89692968	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr10:89692968delC	ENST00000371953.3	+	5	1809	c.452delC	c.(451-453)gccfs	p.A151fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	151	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.A151D(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCACAAGAGGCCCTAGATTTC	0.378		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		51	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Missense(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.A151D(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|thyroid(1)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(451-453)gcfs		phosphatase and tensin homolog							63.0	65.0	64.0					10																	89692968		2203	4298	6501	SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692968delC	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.452delC	10.37:g.89692968delC	ENSP00000361021:p.Ala151fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.A151fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1809	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	151			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.452delC	CCDS31238.1																																																																																				0.378	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		11	75						11	75	---	---	---	---
BUD13	84811	broad.mit.edu	37	11	116633428	116633428	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr11:116633428delT	ENST00000260210.4	-	4	900	c.877delA	c.(877-879)agafs	p.R293fs	BUD13_ENST00000375445.3_Intron	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	293					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CTAGAGGCTCTTTCTGGGGCT	0.493																																						ENST00000260210.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22						c.(877-879)gafs		BUD13 homolog (S. cerevisiae)							117.0	120.0	119.0					11																	116633428		2201	4296	6497	SO:0001589	frameshift_variant	84811							g.chr11:116633428delT	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.877delA	11.37:g.116633428delT	ENSP00000260210:p.Arg293fs					BUD13_ENST00000375445.3_Intron	p.R293fs	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	4	900	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	293					A8K0S0|Q96LS7	Frame_Shift_Del	DEL	ENST00000260210.4	37	c.877delA	CCDS8374.1																																																																																				0.493	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		8	210						8	210	---	---	---	---
CAPN15	6650	broad.mit.edu	37	16	602648	602648	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr16:602648delG	ENST00000219611.2	+	12	3144	c.2781delG	c.(2779-2781)ccgfs	p.P928fs	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	928					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCCCAGAGCCGCCGGGCCACG	0.711																																						ENST00000219611.2																			0											c.(2779-2781)ccfs		calpain 15							4.0	6.0	5.0					16																	602648		1890	3822	5712	SO:0001589	frameshift_variant	6650							g.chr16:602648delG	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2781delG	16.37:g.602648delG	ENSP00000219611:p.Pro928fs					LA16c-366D1.3_ENST00000565879.1_RNA	p.P928fs	NM_005632.2	NP_005623.1					12	3144	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Frame_Shift_Del	DEL	ENST00000219611.2	37	c.2781delG	CCDS10410.1																																																																																				0.711	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		2	4						2	4	---	---	---	---
GRWD1	83743	broad.mit.edu	37	19	48949711	48949712	+	Frame_Shift_Ins	INS	-	-	ACTTT			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr19:48949711_48949712insACTTT	ENST00000253237.5	+	2	490_491	c.257_258insACTTT	c.(256-261)acacttfs	p.-88fs		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1							cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		CTTCCTCTTACACTTTACTTGT	0.579																																						ENST00000253237.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19						c.(256-258)actfs		glutamate-rich WD repeat containing 1																																				SO:0001589	frameshift_variant	83743					nucleolus		g.chr19:48949711_48949712insACTTT	AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"""WD repeat domain containing"""	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.258_262dupACTTT	19.37:g.48949712_48949716dupACTTT	ENSP00000253237:p.Tyr88fs						p.T86fs	NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)	2	490_491	+		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)	86					Q8TF59	Frame_Shift_Ins	INS	ENST00000253237.5	37	c.257_258insACTTT	CCDS12720.1																																																																																				0.579	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466122.1	NM_031485		16	85						16	85	---	---	---	---
