#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
PTCHD2	57540	broad.mit.edu	37	1	11562051	11562051	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:11562051G>A	ENST00000294484.6	+	2	1140	c.1002G>A	c.(1000-1002)tcG>tcA	p.S334S	PTCHD2_ENST00000389575.3_Silent_p.S334S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	334					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)		CCTACTGCTCGCCCCCCAGCT	0.627																																						uc001ash.4																			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.(1000-1002)tcG>tcA		Homo sapiens patched domain containing 2 (PTCHD2), mRNA.							37.0	41.0	40.0					1																	11562051		1961	4131	6092	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11562051G>A	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.1002G>A	1.37:g.11562051G>A						PTCHD2_uc001asi.1_Silent_p.S334S	p.S334S	NM_020780	NP_065831	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)	1	1140	+	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)	334					Q5VTU9|Q9UJD6	Silent	SNP	ENST00000294484.6	37	c.1002G>A	CCDS41247.1																																																																																				0.627	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561	
LRRC8B	23507	broad.mit.edu	37	1	90048973	90048973	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:90048973A>G	ENST00000330947.2	+	5	1124	c.764A>G	c.(763-765)tAt>tGt	p.Y255C	RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.Y255C|LRRC8B_ENST00000439853.1_Missense_Mutation_p.Y255C	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	255					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GACATCATTTATAGAGTATAT	0.383																																						uc001dni.3																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26						c.(763-765)tAt>tGt		Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.							92.0	90.0	91.0					1																	90048973		2203	4300	6503	SO:0001583	missense	23507					integral to membrane		g.chr1:90048973A>G	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.764A>G	1.37:g.90048973A>G	ENSP00000332674:p.Tyr255Cys					LRRC8B_uc001dnh.3_Missense_Mutation_p.Y255C|LRRC8B_uc001dnj.3_Missense_Mutation_p.Y255C	p.Y255C	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	6	1271	+		all_lung(203;0.17)	255					D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	c.764A>G	CCDS724.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.230578	0.58777	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.52754	0.65;0.65;0.65	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000002	T	0.59582	0.2204	M	0.74647	2.275	0.58432	D	0.999992	D	0.76494	0.999	P	0.62813	0.907	T	0.66444	-0.5922	10	0.87932	D	0	.	15.5356	0.76001	1.0:0.0:0.0:0.0	.	255	Q6P9F7	LRC8B_HUMAN	C	255	ENSP00000332674:Y255C;ENSP00000350933:Y255C;ENSP00000400704:Y255C	ENSP00000332674:Y255C	Y	+	2	0	LRRC8B	89821561	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	9.273000	0.95719	2.125000	0.65367	0.533000	0.62120	TAT		0.383	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350	
GPR61	83873	broad.mit.edu	37	1	110086040	110086040	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:110086040G>A	ENST00000527748.1	+	2	1079	c.396G>A	c.(394-396)tcG>tcA	p.S132S	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCATCCTCTCGGTGTCAGCCA	0.607																																						uc021orh.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23						c.(394-396)tcG>tcA		Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.							111.0	98.0	102.0					1																	110086040		2203	4300	6503	SO:0001819	synonymous_variant	83873					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:110086040G>A	AF317652	CCDS801.1	1p13.3	2012-08-21			ENSG00000156097	ENSG00000156097		"""GPCR / Class A : Orphans"""	13300	protein-coding gene	gene with protein product		606916				11165367, 11690637	Standard	NM_031936		Approved	BALGR	uc001dxy.2	Q9BZJ8	OTTHUMG00000011633	ENST00000527748.1:c.396G>A	1.37:g.110086040G>A						GPR61_uc001dxy.2_Silent_p.S132S	p.S132S	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)	0	396	+		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	132					A8K1W2|Q6NWS0|Q8TDV4|Q96PR4	Silent	SNP	ENST00000527748.1	37	c.396G>A	CCDS801.1																																																																																				0.607	GPR61-005	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385575.1		
TTF2	8458	broad.mit.edu	37	1	117618058	117618058	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:117618058G>A	ENST00000369466.4	+	5	896	c.852G>A	c.(850-852)gaG>gaA	p.E284E		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	284					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCAACAAGGAGTACACGAACT	0.522																																						uc001egy.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(850-852)gaG>gaA		Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.							76.0	83.0	80.0					1																	117618058		2203	4300	6503	SO:0001819	synonymous_variant	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117618058G>A	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.852G>A	1.37:g.117618058G>A						TTF2_uc001egx.1_Silent_p.E284E	p.E284E	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	4	872	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	284					A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Silent	SNP	ENST00000369466.4	37	c.852G>A	CCDS892.1																																																																																				0.522	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3		
FLG	2312	broad.mit.edu	37	1	152283519	152283519	+	Silent	SNP	G	G	A	rs545397624		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:152283519G>A	ENST00000368799.1	-	3	3878	c.3843C>T	c.(3841-3843)gaC>gaT	p.D1281D	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1281	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCGGAGTCGTCTGAGTGTC	0.552									Ichthyosis				T|||	1	0.000199681	0.0	0.0	5008	,	,		20557	0.0		0.001	False		,,,				2504	0.0					uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(3841-3843)gaC>gaT		Homo sapiens filaggrin (FLG), mRNA.							221.0	213.0	215.0					1																	152283519		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152283519G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3843C>T	1.37:g.152283519G>A						AK056431_uc001ezv.3_5'Flank	p.D1281D	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3879	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1281			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.3843C>T	CCDS30860.1																																																																																				0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
HMCN1	83872	broad.mit.edu	37	1	186050515	186050515	+	Nonsense_Mutation	SNP	C	C	T	rs142475663		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:186050515C>T	ENST00000271588.4	+	56	9005	c.8776C>T	c.(8776-8778)Cga>Tga	p.R2926*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.R2926*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2926	Ig-like C2-type 27.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCTAATGGACGAATTCTGCA	0.338																																						uc001grq.1																			0		p.R2926Q(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(8776-8778)Cga>Tga		Homo sapiens hemicentin 1 (HMCN1), mRNA.		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	82.0	83.0	83.0		8776	4.7	1.0	1	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	HMCN1	NM_031935.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		2926/5636	186050515	2,13004	2203	4300	6503	SO:0001587	stop_gained	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186050515C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8776C>T	1.37:g.186050515C>T	ENSP00000271588:p.Arg2926*					MIR548F1_uc021pgf.1_Intron	p.R2926*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			55	9005	+			2926			Ig-like C2-type 27.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	c.8776C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	51	18.420080	0.99904	2.27E-4	1.16E-4	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.86	4.72	0.59763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2974	0.60305	0.8656:0.1344:0.0:0.0	.	.	.	.	X	2926	.	ENSP00000271588:R2926X	R	+	1	2	HMCN1	184317138	1.000000	0.71417	0.987000	0.45799	0.965000	0.64279	4.558000	0.60789	1.044000	0.40200	-0.266000	0.10368	CGA		0.338	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HMCN1	83872	broad.mit.edu	37	1	186083185	186083185	+	Missense_Mutation	SNP	G	G	A	rs138190200	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:186083185G>A	ENST00000271588.4	+	73	11435	c.11206G>A	c.(11206-11208)Gct>Act	p.A3736T	HMCN1_ENST00000367492.2_Missense_Mutation_p.A3736T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3736	Ig-like C2-type 36.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.A3736T(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGAATGCATCGCTGAAGGTGT	0.408													G|||	5	0.000998403	0.003	0.0014	5008	,	,		15692	0.0		0.0	False		,,,				2504	0.0					uc001grq.1																			1	Substitution - Missense(1)	p.A3736T(2)	large_intestine(1)	NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(11206-11208)Gct>Act		Homo sapiens hemicentin 1 (HMCN1), mRNA.		G	THR/ALA	11,4395	17.9+/-39.9	0,11,2192	111.0	121.0	117.0		11206	2.2	0.3	1	dbSNP_134	117	0,8600		0,0,4300	yes	missense	HMCN1	NM_031935.2	58	0,11,6492	AA,AG,GG		0.0,0.2497,0.0846	benign	3736/5636	186083185	11,12995	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186083185G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.11206G>A	1.37:g.186083185G>A	ENSP00000271588:p.Ala3736Thr					MIR548F1_uc021pgf.1_Intron	p.A3736T	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			72	11435	+			3736			Ig-like C2-type 36.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.11206G>A	CCDS30956.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	8.783	0.928807	0.18131	0.002497	0.0	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68331	-0.32;-0.32	5.08	2.21	0.28008	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.308230	0.36482	N	0.002564	T	0.60051	0.2239	M	0.86178	2.8	0.20196	N	0.999929	P	0.38711	0.643	B	0.29353	0.101	T	0.51236	-0.8731	10	0.22109	T	0.4	.	8.2261	0.31570	0.3036:0.0:0.6964:0.0	.	3736	Q96RW7	HMCN1_HUMAN	T	3736	ENSP00000271588:A3736T;ENSP00000356462:A3736T	ENSP00000271588:A3736T	A	+	1	0	HMCN1	184349808	1.000000	0.71417	0.295000	0.24960	0.174000	0.22865	5.210000	0.65214	0.271000	0.22005	-0.136000	0.14681	GCT		0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
NUAK2	81788	broad.mit.edu	37	1	205280831	205280831	+	Splice_Site	SNP	A	A	G			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:205280831A>G	ENST00000367157.3	-	2	479		c.e2+1			NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGCCCACTGTACCTTCATGGA	0.438																																						uc001hce.3																			0				breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.e2+1		Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.							347.0	246.0	280.0					1																	205280831		2203	4300	6503	SO:0001630	splice_region_variant	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205280831A>G	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.352+1T>C	1.37:g.205280831A>G						NUAK2_uc009xbj.1_5'Flank	p.V118_splice	NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		2	479	-	Breast(84;0.186)		118			Protein kinase.			Splice_Site	SNP	ENST00000367157.3	37	c.352_splice	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374851	0.61735	.	.	ENSG00000163545	ENST00000367157	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6188	0.76790	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUAK2	203547454	1.000000	0.71417	0.978000	0.43139	0.509000	0.34042	9.309000	0.96252	2.169000	0.68431	0.379000	0.24179	.		0.438	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1	NM_030952	Intron
TRAF3IP3	80342	broad.mit.edu	37	1	209954760	209954760	+	Missense_Mutation	SNP	A	A	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:209954760A>T	ENST00000367024.1	+	16	2036	c.1520A>T	c.(1519-1521)cAc>cTc	p.H507L	TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.H487L|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.H507L|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.H487L|TRAF3IP3_ENST00000467830.1_3'UTR			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	507						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AAGCTGCAGCACTGTCGAGAA	0.512																																						uc001hho.3																			0		p.R506*(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1519-1521)cAc>cTc		Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.							119.0	114.0	116.0					1																	209954760		2203	4300	6503	SO:0001583	missense	80342					integral to membrane	protein binding	g.chr1:209954760A>T		CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.1520A>T	1.37:g.209954760A>T	ENSP00000355991:p.His507Leu					TRAF3IP3_uc001hhn.3_Missense_Mutation_p.H487L|TRAF3IP3_uc009xcr.3_Missense_Mutation_p.H507L	p.H507L	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.045)	15	1940	+			507					A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Missense_Mutation	SNP	ENST00000367024.1	37	c.1520A>T	CCDS1490.2	.	.	.	.	.	.	.	.	.	.	A	15.69	2.908669	0.52439	.	.	ENSG00000009790	ENST00000367025;ENST00000367026;ENST00000367024;ENST00000010338	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.29	4.14	0.48551	.	0.232966	0.35320	N	0.003290	T	0.65186	0.2667	L	0.44542	1.39	0.24682	N	0.993357	B;B	0.09022	0.002;0.0	B;B	0.08055	0.003;0.002	T	0.59484	-0.7446	10	0.72032	D	0.01	-0.7502	9.1765	0.37116	0.8379:0.0:0.0:0.1621	.	507;487	Q9Y228;Q9Y228-2	T3JAM_HUMAN;.	L	507;487;507;487	ENSP00000355992:H507L;ENSP00000355993:H487L;ENSP00000355991:H507L;ENSP00000010338:H487L	ENSP00000010338:H487L	H	+	2	0	TRAF3IP3	208021383	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.207000	0.51106	0.830000	0.34757	0.533000	0.62120	CAC		0.512	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088734.2		
AS3MT	57412	broad.mit.edu	37	10	104638210	104638210	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr10:104638210C>T	ENST00000369880.3	+	8	762	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	C10orf32-ASMT_ENST00000299353.6_3'UTR	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase	229					arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		CTGCCCTCCACGTTTGGTCAC	0.408																																						uc001kwj.3																			0				large_intestine(1)|lung(6)	7						c.(691-693)Cgt>Tgt		Homo sapiens arsenic (+3 oxidation state) methyltransferase (AS3MT), mRNA.							182.0	174.0	177.0					10																	104638210		1887	4134	6021	SO:0001583	missense	57412				arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity	g.chr10:104638210C>T	AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"""arsenic (+3 oxidation state) methyltransferase"""			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.685C>T	10.37:g.104638210C>T	ENSP00000358896:p.Arg229Cys					AS3MT_uc009xxh.3_Missense_Mutation_p.R229C|AS3MT_uc001kwk.3_Missense_Mutation_p.R229C	p.R231C	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)	11	1090	+		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)	229					A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Missense_Mutation	SNP	ENST00000369880.3	37	c.691C>T	CCDS41567.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.116486	0.77323	.	.	ENSG00000214435	ENST00000369880	T	0.23147	1.92	5.48	4.57	0.56435	.	0.053428	0.64402	D	0.000001	T	0.49184	0.1542	M	0.84585	2.705	0.36784	D	0.884491	P;D;D	0.64830	0.939;0.994;0.994	P;P;P	0.58454	0.515;0.839;0.839	T	0.64639	-0.6360	9	0.56958	D	0.05	-15.267	13.531	0.61621	0.0:0.9218:0.0:0.0781	.	229;229;229	Q0VDK3;Q9HBK9;Q0VDK4	.;AS3MT_HUMAN;.	C	229	ENSP00000358896:R229C	ENSP00000358896:R229C	R	+	1	0	AS3MT	104628200	0.941000	0.31946	1.000000	0.80357	0.994000	0.84299	1.939000	0.40213	2.569000	0.86673	0.561000	0.74099	CGT		0.408	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050107.1	NM_020682	
OR52I1	390037	broad.mit.edu	37	11	4616048	4616048	+	Frame_Shift_Del	DEL	G	G	-			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr11:4616048delG	ENST00000530443.2	+	1	780	c.780delG	c.(778-780)atgfs	p.M260fs	OR52I1_ENST00000450052.2_Frame_Shift_Del_p.M284fs	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TACCTGGGATGGCATCCATCT	0.507																																						uc010qyi.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(778-780)atgfs		Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.							143.0	140.0	141.0					11																	4616048		2201	4298	6499	SO:0001589	frameshift_variant	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4616048delG	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.780delG	11.37:g.4616048delG	ENSP00000436453:p.Met260fs						p.M260fs	NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	780	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	260					Q6IF91	Frame_Shift_Del	DEL	ENST00000530443.2	37	c.780delG	CCDS59223.1																																																																																				0.507	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169	
OR5D18	219438	broad.mit.edu	37	11	55587445	55587445	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr11:55587445T>A	ENST00000333976.4	+	1	360	c.340T>A	c.(340-342)Ttt>Att	p.F114I		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CACTGAATCCTTTTTATTAGC	0.433																																						uc010rin.2																			0		p.S113F(1)|p.F114F(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(340-342)Ttt>Att		Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.							162.0	163.0	162.0					11																	55587445		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587445T>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.340T>A	11.37:g.55587445T>A	ENSP00000335025:p.Phe114Ile						p.F114I	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			0	340	+		all_epithelial(135;0.208)	114					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.340T>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	7.150	0.583540	0.13749	.	.	ENSG00000186119	ENST00000333976	T	0.00922	5.54	4.85	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001134	T	0.01254	0.0041	L	0.52573	1.65	0.09310	N	1	B	0.23735	0.09	B	0.27262	0.078	T	0.42085	-0.9472	10	0.45353	T	0.12	-13.6999	8.9728	0.35917	0.2944:0.0:0.0:0.7056	.	114	Q8NGL1	OR5DI_HUMAN	I	114	ENSP00000335025:F114I	ENSP00000335025:F114I	F	+	1	0	OR5D18	55344021	0.000000	0.05858	0.020000	0.16555	0.152000	0.21847	-0.610000	0.05629	0.803000	0.34113	0.462000	0.41574	TTT		0.433	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952	
ACRV1	56	broad.mit.edu	37	11	125542539	125542539	+	Silent	SNP	C	C	T	rs370037825		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr11:125542539C>T	ENST00000533904.1	-	4	1089	c.747G>A	c.(745-747)acG>acA	p.T249T	ACRV1_ENST00000345274.1_Silent_p.T139T|ACRV1_ENST00000353070.1_Silent_p.T65T|ACRV1_ENST00000445562.1_Silent_p.T154T|ACRV1_ENST00000315608.3_Silent_p.T230T|ACRV1_ENST00000527795.1_Silent_p.T179T|ACRV1_ENST00000425431.1_Silent_p.T105T|ACRV1_ENST00000530048.1_Silent_p.T194T|ACRV1_ENST00000348856.3_Silent_p.T149T|ACRV1_ENST00000453509.1_Silent_p.T160T|CHEK1_ENST00000428830.2_Intron			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	249					multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		TTTGCATCCTCGTTCCATGGG	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		21413	0.001		0.0	False		,,,				2504	0.0					uc001qcs.3																			0				kidney(1)|large_intestine(3)|lung(2)	6						c.(745-747)acG>acA		Homo sapiens acrosomal vesicle protein 1 (ACRV1), transcript variant 1, mRNA.		G	,,,,	0,4402		0,0,2201	188.0	163.0	172.0		,747,690,582,537	2.2	1.0	11		172	1,8597		0,1,4298	no	intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ACRV1,CHEK1	NM_001114121.2,NM_001612.5,NM_020069.4,NM_020107.4,NM_020108.4	,,,,	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	,,,,	,249/266,230/247,194/211,179/196	125542539	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	56				multicellular organismal development	acrosomal vesicle		g.chr11:125542539C>T	AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"""sperm protein 10"""	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.747G>A	11.37:g.125542539C>T						CHEK1_uc001qcf.4_Intron|ACRV1_uc001qcl.3_Silent_p.T179T|ACRV1_uc001qcn.3_Silent_p.T194T|ACRV1_uc001qcr.3_Silent_p.T230T	p.T249T	NM_001612	NP_001603	P26436	ASPX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)	3	865	-	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	249					Q53FF4	Silent	SNP	ENST00000533904.1	37	c.747G>A	CCDS8460.1																																																																																				0.448	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	NM_001612	
ADAMTS20	80070	broad.mit.edu	37	12	43833726	43833726	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:43833726G>A	ENST00000389420.3	-	17	2436	c.2437C>T	c.(2437-2439)Cga>Tga	p.R813*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.R813*|ADAMTS20_ENST00000395541.2_5'Flank	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	813	Spacer.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R813*(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCTCTTGTCGATTAGTACTA	0.299																																						uc010skx.2																			1	Substitution - Nonsense(1)	p.R813*(1)	endometrium(1)	breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(2437-2439)Cga>Tga		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.							95.0	88.0	90.0					12																	43833726		2201	4297	6498	SO:0001587	stop_gained	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43833726G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2437C>T	12.37:g.43833726G>A	ENSP00000374071:p.Arg813*					ADAMTS20_uc001rno.1_5'Flank|ADAMTS20_uc001rnp.1_5'Flank	p.R813*	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	16	2437	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	813			Spacer.		A6NNC9|J3QT00	Nonsense_Mutation	SNP	ENST00000389420.3	37	c.2437C>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	40	8.493238	0.98836	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	.	.	.	5.44	3.53	0.40419	.	0.000000	0.44688	D	0.000423	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4122	0.67121	0.0:0.0:0.5579:0.4421	.	.	.	.	X	813	.	ENSP00000374068:R813X	R	-	1	2	ADAMTS20	42119993	1.000000	0.71417	0.965000	0.40720	0.961000	0.63080	3.475000	0.53136	0.865000	0.35603	0.650000	0.86243	CGA		0.299	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	
H1FNT	341567	broad.mit.edu	37	12	48723149	48723149	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:48723149G>A	ENST00000335017.1	+	1	387	c.75G>A	c.(73-75)gcG>gcA	p.A25A		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	25					chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						TGGCTGAGGCGCCTGGGCCCA	0.657																																						uc001rrm.3																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						c.(73-75)gcG>gcA		Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.							17.0	21.0	20.0					12																	48723149		2201	4298	6499	SO:0001819	synonymous_variant	341567				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding	g.chr12:48723149G>A	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"""Histones / Replication-independent"""	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.75G>A	12.37:g.48723149G>A							p.A25A	NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN			0	387	+			25					Q147U8|Q5GKZ5|Q7Z694	Silent	SNP	ENST00000335017.1	37	c.75G>A	CCDS8762.1																																																																																				0.657	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406516.1	NM_181788	
B4GALNT1	2583	broad.mit.edu	37	12	58022670	58022670	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:58022670G>A	ENST00000341156.4	-	8	1412	c.828C>T	c.(826-828)agC>agT	p.S276S	B4GALNT1_ENST00000550943.1_5'Flank|B4GALNT1_ENST00000449184.3_Silent_p.S243S|B4GALNT1_ENST00000418555.2_Silent_p.S221S	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	276					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TGACTAGAGCGCTGATGTTGT	0.577																																						uc001spg.1																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(826-828)agC>agT		Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.							71.0	67.0	69.0					12																	58022670		2203	4300	6503	SO:0001819	synonymous_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58022670G>A	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.828C>T	12.37:g.58022670G>A						B4GALNT1_uc010sru.2_Silent_p.S221S|B4GALNT1_uc010srv.2_Silent_p.S243S	p.S276S	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		7	1260	-	Melanoma(17;0.122)		276					B4DE26|Q8N636	Silent	SNP	ENST00000341156.4	37	c.828C>T	CCDS8950.1																																																																																				0.577	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478	
PTPN11	5781	broad.mit.edu	37	12	112926910	112926910	+	Missense_Mutation	SNP	G	G	C	rs397507550		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:112926910G>C	ENST00000351677.2	+	13	1728	c.1530G>C	c.(1528-1530)caG>caC	p.Q510H		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	514	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.		Q -> P (in LEOPARD1). {ECO:0000269|PubMed:14961557, ECO:0000269|PubMed:15121796, ECO:0000269|PubMed:15690106}.|Q -> R (in NS1). {ECO:0000269|PubMed:15948193}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CAGAAGCACAGTACCGATTTA	0.493			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																													uc001ttx.3				Dom	yes		12	12q24.1	5781	Mis	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	Noonan Syndrome	L			"""JMML, AML, MDS"""		0		p.Q510K(2)|p.Q510H(1)|p.Q510L(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						c.(1528-1530)caG>caC		Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.							182.0	171.0	174.0					12																	112926910		2203	4300	6503	SO:0001583	missense	5781	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr12:112926910G>C	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1530G>C	12.37:g.112926910G>C	ENSP00000340944:p.Gln510His						p.Q510H	NM_002834	NP_002825	Q06124	PTN11_HUMAN			12	1910	+			514		Q -> P (in LEOPARD1).|Q -> R (in NS1).	Tyrosine-protein phosphatase.		A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	c.1530G>C	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041522	0.75732	.	.	ENSG00000179295	ENST00000351677	D	0.99677	-6.37	5.13	2.29	0.28610	.	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99056	1.0829	10	0.87932	D	0	.	9.2895	0.37778	0.2656:0.0:0.7344:0.0	.	510	Q06124-2	.	H	510	ENSP00000340944:Q510H	ENSP00000340944:Q510H	Q	+	3	2	PTPN11	111411293	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.583000	0.53928	0.278000	0.22164	0.650000	0.86243	CAG		0.493	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2		
RITA1	84934	broad.mit.edu	37	12	113629392	113629392	+	Silent	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:113629392C>T	ENST00000548278.1	+	4	1272	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L	RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Silent_p.L218L|C12orf52_ENST00000549621.1_Silent_p.L194L	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		194	Interaction with tubulin.				negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						TTCACGCCCCCTGAAGCGGGG	0.607																																						uc001tur.1																			0				large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(580-582)Ctg>Ttg		Homo sapiens chromosome 12 open reading frame 52 (C12orf52), mRNA.							57.0	55.0	56.0					12																	113629392		2203	4300	6503	SO:0001819	synonymous_variant	84934				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding	g.chr12:113629392C>T																												ENST00000548278.1:c.580C>T	12.37:g.113629392C>T							p.L194L	NM_032848	NP_116237	Q96K30	RITA_HUMAN			3	1048	+			194			Interaction with tubulin.		B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Silent	SNP	ENST00000548278.1	37	c.580C>T	CCDS9166.1																																																																																				0.607	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1		
DNAH10	196385	broad.mit.edu	37	12	124393905	124393905	+	Missense_Mutation	SNP	G	G	A	rs571654959		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:124393905G>A	ENST00000409039.3	+	57	9584	c.9559G>A	c.(9559-9561)Gtg>Atg	p.V3187M		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3187	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGCCAAGGGCGTGATGTCCGA	0.502													g|||	1	0.000199681	0.0008	0.0	5008	,	,		21150	0.0		0.0	False		,,,				2504	0.0					uc001uft.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(9559-9561)Gtg>Atg		Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.							67.0	67.0	67.0					12																	124393905		1959	4155	6114	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124393905G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9559G>A	12.37:g.124393905G>A	ENSP00000386770:p.Val3187Met						p.V3187M	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	56	9584	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3187			Stalk (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.9559G>A	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	g	5.213	0.224893	0.09916	.	.	ENSG00000197653	ENST00000409039	T	0.75589	-0.95	5.43	4.28	0.50868	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	N	0.000000	T	0.37019	0.0988	N	0.00583	-1.355	0.31746	N	0.635168	B	0.09022	0.002	B	0.08055	0.003	T	0.43015	-0.9417	10	0.02654	T	1	.	11.4354	0.50064	0.9289:0.0:0.0711:0.0	.	3187	Q8IVF4	DYH10_HUMAN	M	3187	ENSP00000386770:V3187M	ENSP00000386770:V3187M	V	+	1	0	DNAH10	122959858	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.244000	0.72391	0.886000	0.36113	-0.405000	0.06341	GTG		0.502	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
GPR133	283383	broad.mit.edu	37	12	131475583	131475583	+	Missense_Mutation	SNP	C	C	T	rs535355861		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:131475583C>T	ENST00000261654.5	+	7	1329	c.770C>T	c.(769-771)aCg>aTg	p.T257M	GPR133_ENST00000535015.1_Missense_Mutation_p.T289M|RP11-76C10.5_ENST00000542980.1_lincRNA	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	257					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(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TTGTCTTCAACGCTGCCAAGC	0.478													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17673	0.0		0.0	False		,,,				2504	0.0					uc010tbm.2																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(865-867)aCg>aTg		Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.							135.0	104.0	115.0					12																	131475583		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131475583C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.770C>T	12.37:g.131475583C>T	ENSP00000261654:p.Thr257Met					GPR133_uc001uit.4_Missense_Mutation_p.T257M	p.T289M	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	7	1425	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		257					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.866C>T	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.551039	0.45383	.	.	ENSG00000111452	ENST00000261654;ENST00000542091;ENST00000535015;ENST00000537600	T;T	0.57107	0.43;0.42	4.4	2.56	0.30785	.	0.297070	0.30840	N	0.008776	T	0.57636	0.2067	L	0.57536	1.79	0.09310	N	0.999994	D;D	0.76494	0.999;0.997	P;P	0.55011	0.766;0.611	T	0.51212	-0.8734	10	0.87932	D	0	.	8.6417	0.33981	0.0:0.8165:0.0:0.1835	.	289;257	B7ZLF7;Q6QNK2	.;GP133_HUMAN	M	257;197;289;16	ENSP00000261654:T257M;ENSP00000444425:T289M	ENSP00000261654:T257M	T	+	2	0	GPR133	130041536	0.010000	0.17322	0.000000	0.03702	0.001000	0.01503	2.315000	0.43752	0.576000	0.29452	0.557000	0.71058	ACG		0.478	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	
MDGA2	161357	broad.mit.edu	37	14	47389235	47389235	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:47389235A>G	ENST00000399232.2	-	10	2375	c.2011T>C	c.(2011-2013)Tac>Cac	p.Y671H	MDGA2_ENST00000357362.3_Missense_Mutation_p.Y442H|MDGA2_ENST00000426342.1_Missense_Mutation_p.Y442H|MDGA2_ENST00000439988.3_Missense_Mutation_p.Y740H	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	671	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCCAACCGGTATGCAACAATC	0.423																																						uc001wwj.4																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(2218-2220)Tac>Cac		Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.							122.0	114.0	116.0					14																	47389235		1904	4123	6027	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47389235A>G	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2011T>C	14.37:g.47389235A>G	ENSP00000382178:p.Tyr671His					MDGA2_uc001wwi.4_Missense_Mutation_p.Y442H|MDGA2_uc010ani.3_Missense_Mutation_p.Y231H	p.Y740H	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN			9	2376	-			671					F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.2218T>C		.	.	.	.	.	.	.	.	.	.	A	17.89	3.499858	0.64298	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.39	5.39	0.77823	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.47455	U	0.000232	T	0.64382	0.2593	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.76575	0.988;0.973	T	0.67461	-0.5665	10	0.87932	D	0	.	13.6596	0.62359	1.0:0.0:0.0:0.0	.	442;671	F6W3S7;Q7Z553	.;MDGA2_HUMAN	H	671;442;740;442	ENSP00000400011:Y671H;ENSP00000405456:Y442H;ENSP00000382178:Y740H;ENSP00000349925:Y442H	ENSP00000349925:Y442H	Y	-	1	0	MDGA2	46458985	1.000000	0.71417	0.913000	0.36048	0.369000	0.29798	8.728000	0.91484	2.180000	0.69256	0.482000	0.46254	TAC		0.423	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	
SYNE2	23224	broad.mit.edu	37	14	64686074	64686074	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:64686074G>A	ENST00000344113.4	+	109	19949	c.19737G>A	c.(19735-19737)atG>atA	p.M6579I	SYNE2_ENST00000358025.3_Missense_Mutation_p.M6602I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554805.1_Missense_Mutation_p.M362I|SYNE2_ENST00000357395.3_Missense_Mutation_p.M2964I|SYNE2_ENST00000394768.2_Missense_Mutation_p.M2964I|SYNE2_ENST00000555022.1_Missense_Mutation_p.M457I|SYNE2_ENST00000554584.1_Missense_Mutation_p.M6495I|SYNE2_ENST00000441438.2_Missense_Mutation_p.M110I|SYNE2_ENST00000458046.2_Missense_Mutation_p.M236I|SYNE2_ENST00000555002.1_Missense_Mutation_p.M3236I	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6579					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTTAAAGATGGCAAAGCCTC	0.433																																						uc001xgl.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(19804-19806)atG>atA		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							84.0	82.0	83.0					14																	64686074		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64686074G>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19737G>A	14.37:g.64686074G>A	ENSP00000341781:p.Met6579Ile					SYNE2_uc001xgm.3_Missense_Mutation_p.M6579I|SYNE2_uc010apy.3_Missense_Mutation_p.M2964I|SYNE2_uc001xgn.3_Missense_Mutation_p.M1541I|SYNE2_uc021rui.1_Missense_Mutation_p.M1540I|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.M549I|SYNE2_uc001xgq.3_Missense_Mutation_p.M944I|SYNE2_uc001xgr.3_Missense_Mutation_p.M362I|SYNE2_uc010tsi.2_Missense_Mutation_p.M236I|SYNE2_uc001xgs.3_Missense_Mutation_p.M236I|SYNE2_uc001xgt.3_Missense_Mutation_p.M110I	p.M6602I	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	109	20036	+			6579					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.19806G>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	6.477	0.456273	0.12283	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805;ENST00000458046;ENST00000441438	T;T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.53	1.64	0.23874	.	1.185320	0.06194	N	0.681828	T	0.37073	0.0990	L	0.29908	0.895	0.09310	N	0.999995	B;B;B;B;B;B;B;B	0.24576	0.036;0.008;0.106;0.029;0.01;0.024;0.018;0.029	B;B;B;B;B;B;B;B	0.22880	0.033;0.004;0.042;0.019;0.007;0.013;0.007;0.019	T	0.29912	-0.9996	10	0.36615	T	0.2	.	9.5329	0.39205	0.4181:0.0:0.5819:0.0	.	236;2964;110;236;967;6495;6579;6602	B4DND7;Q8WXH0-7;Q8WXH0-6;Q8WXH0-5;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;.;.;.;SYNE2_HUMAN;.	I	6602;2964;6579;6495;6501;3236;2964;457;362;236;110	ENSP00000350719:M6602I;ENSP00000349969:M2964I;ENSP00000341781:M6579I;ENSP00000452570:M6495I;ENSP00000450831:M3236I;ENSP00000378249:M2964I;ENSP00000451009:M457I;ENSP00000450605:M362I;ENSP00000391937:M236I;ENSP00000396794:M110I	ENSP00000261678:M6501I	M	+	3	0	SYNE2	63755827	0.001000	0.12720	0.018000	0.16275	0.388000	0.30384	0.690000	0.25451	0.287000	0.22375	-0.136000	0.14681	ATG		0.433	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
LTBP2	4053	broad.mit.edu	37	14	75078500	75078500	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:75078500C>T	ENST00000261978.4	-	1	534	c.148G>A	c.(148-150)Gcg>Acg	p.A50T	LTBP2_ENST00000556690.1_Missense_Mutation_p.A50T|LTBP2_ENST00000557425.1_Intron|CTD-2207P18.2_ENST00000556652.1_lincRNA	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	50					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGTCGATTCGCGTCTCCACCA	0.692																																						uc001xqa.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(148-150)Gcg>Acg		Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.							12.0	15.0	14.0					14																	75078500		2178	4264	6442	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75078500C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.148G>A	14.37:g.75078500C>T	ENSP00000261978:p.Ala50Thr						p.A50T	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	0	535	-			50					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.148G>A	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840570	0.71488	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.78924	-1.21;-1.22	3.5	2.5	0.30297	.	0.696787	0.11843	N	0.524100	T	0.69468	0.3114	L	0.27053	0.805	0.09310	N	0.999999	D	0.60575	0.988	P	0.46275	0.51	T	0.62201	-0.6904	10	0.72032	D	0.01	.	11.3417	0.49537	0.0:0.8158:0.1842:0.0	.	50	Q14767	LTBP2_HUMAN	T	50	ENSP00000261978:A50T;ENSP00000451477:A50T	ENSP00000261978:A50T	A	-	1	0	LTBP2	74148253	0.003000	0.15002	0.594000	0.28785	0.847000	0.48162	0.978000	0.29488	1.964000	0.57103	0.462000	0.41574	GCG		0.692	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	
AK7	122481	broad.mit.edu	37	14	96875256	96875256	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:96875256C>T	ENST00000267584.4	+	4	520	c.476C>T	c.(475-477)gCg>gTg	p.A159V	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	159					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATGACTTGGGCGCGCTCCAAA	0.473																																						uc001yfn.2																			0		p.W158R(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(475-477)gCg>gTg		Homo sapiens adenylate kinase 7 (AK7), mRNA.							88.0	85.0	86.0					14																	96875256		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96875256C>T	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.476C>T	14.37:g.96875256C>T	ENSP00000267584:p.Ala159Val						p.A159V	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	3	520	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	159					Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.476C>T	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313464	0.40996	.	.	ENSG00000140057	ENST00000267584	T	0.43294	0.95	5.1	5.1	0.69264	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	M	0.69185	2.1	0.80722	D	1	D	0.67145	0.996	P	0.52793	0.709	T	0.55173	-0.8182	10	0.45353	T	0.12	-27.8015	15.7785	0.78242	0.0:1.0:0.0:0.0	.	159	Q96M32	KAD7_HUMAN	V	159	ENSP00000267584:A159V	ENSP00000267584:A159V	A	+	2	0	AK7	95945009	0.998000	0.40836	0.955000	0.39395	0.036000	0.12997	4.965000	0.63708	2.535000	0.85469	0.655000	0.94253	GCG		0.473	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1		
PACS2	23241	broad.mit.edu	37	14	105859121	105859121	+	Silent	SNP	C	C	G	rs190752624		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:105859121C>G	ENST00000325438.8	+	22	2880	c.2376C>G	c.(2374-2376)ggC>ggG	p.G792G	PACS2_ENST00000551743.1_Silent_p.G306G|PACS2_ENST00000551801.1_5'UTR|PACS2_ENST00000458164.2_Silent_p.G807G|PACS2_ENST00000547217.1_Silent_p.G762G|PACS2_ENST00000430725.2_Silent_p.G717G|PACS2_ENST00000447393.1_Silent_p.G796G			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	792					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CCAGCAGCGGCGAGGCTGCAG	0.612																																						uc001yqu.3																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(2419-2421)ggC>ggG		Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA.							62.0	55.0	58.0					14																	105859121		2200	4299	6499	SO:0001819	synonymous_variant	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105859121C>G	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.2376C>G	14.37:g.105859121C>G						PACS2_uc001yqs.2_Silent_p.G717G|PACS2_uc001yqt.3_Silent_p.G792G|PACS2_uc001yqv.3_Silent_p.G796G	p.G807G	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	22	2925	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	792					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Silent	SNP	ENST00000325438.8	37	c.2421C>G	CCDS32168.1																																																																																				0.612	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355	
TRPM1	4308	broad.mit.edu	37	15	31295059	31295059	+	Missense_Mutation	SNP	G	G	A	rs372226363		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr15:31295059G>A	ENST00000256552.6	-	28	3991	c.3844C>T	c.(3844-3846)Cgg>Tgg	p.R1282W	TRPM1_ENST00000542188.1_Missense_Mutation_p.R1299W|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1260W|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.R1260W(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTGCTTTGCCGGAGAAGATAC	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		20131	0.0		0.0	False		,,,				2504	0.001					uc021sia.1																			1	Substitution - Missense(1)	p.R1260W(1)	NS(1)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(3895-3897)Cgg>Tgg		Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.		G	TRP/ARG	1,4169		0,1,2084	91.0	92.0	91.0		3778	0.4	0.0	15		91	0,8420		0,0,4210	no	missense	TRPM1	NM_002420.4	101	0,1,6294	AA,AG,GG		0.0,0.024,0.0079	probably-damaging	1260/1604	31295059	1,12589	2085	4210	6295	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31295059G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3844C>T	15.37:g.31295059G>A	ENSP00000256552:p.Arg1282Trp					TRPM1_uc010azy.3_Missense_Mutation_p.R1167W|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R1282W|TRPM1_uc001zfm.3_Missense_Mutation_p.R1260W	p.R1299W	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	26	4209	-		all_lung(180;1.92e-11)	1260						Missense_Mutation	SNP	ENST00000256552.6	37	c.3895C>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.611055	0.28712	2.4E-4	0.0	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.70869	-0.52;-0.52;-0.52	5.2	0.427	0.16489	.	0.056537	0.64402	D	0.000001	T	0.75125	0.3807	M	0.76838	2.35	0.25845	N	0.984012	P;P	0.38922	0.56;0.651	B;B	0.41088	0.347;0.081	T	0.73675	-0.3908	10	0.87932	D	0	-17.0895	20.7912	0.99721	0.0:0.0:0.8192:0.1808	.	1254;1260	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	W	1260;1299;1282;1260	ENSP00000380897:R1260W;ENSP00000437849:R1299W;ENSP00000256552:R1282W	ENSP00000256552:R1282W	R	-	1	2	TRPM1	29082351	0.005000	0.15991	0.004000	0.12327	0.165000	0.22458	0.131000	0.15870	-0.164000	0.10927	-0.271000	0.10264	CGG		0.473	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368|rs143389223	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr15:102292785C>G	ENST00000561463.1	+	0	831									DNM1 pseudogene 47									p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602																																						uc010usj.2																			1	Substitution - Missense(1)	p.Q125E(1)	kidney(1)								c.(373-375)Cag>Gag		Homo sapiens cDNA clone IMAGE:40009338.																																						100216544							g.chr15:102292785C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292785C>G						DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank	p.Q125E							3	432	+									Missense_Mutation	SNP	ENST00000561463.1	37	c.373C>G																																																																																					0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149	
FBXL16	146330	broad.mit.edu	37	16	745854	745854	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:745854C>T	ENST00000397621.1	-	3	1034	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	FBXL16_ENST00000324361.5_Missense_Mutation_p.G235R|FBXL16_ENST00000562585.1_5'Flank|FBXL16_ENST00000562563.1_Missense_Mutation_p.G23R	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	235										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GACCACAGCCCGGCCTCGGTG	0.672																																						uc021taa.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10						c.(703-705)Ggg>Agg		Homo sapiens F-box and leucine-rich repeat protein 16 (FBXL16), mRNA.							28.0	28.0	28.0					16																	745854		2199	4288	6487	SO:0001583	missense	146330							g.chr16:745854C>T	BC036680	CCDS10421.1	16p13.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000127585	ENSG00000127585		"""F-boxes / Leucine-rich repeats"""	14150	protein-coding gene	gene with protein product		609082	"""chromosome 16 open reading frame 22"""	C16orf22		11157797	Standard	NM_153350		Approved	MGC33974, Fbl16	uc021taa.1	Q8N461	OTTHUMG00000090420	ENST00000397621.1:c.703G>A	16.37:g.745854C>T	ENSP00000380746:p.Gly235Arg					FBXL16_uc002cja.3_5'Flank|FBXL16_uc002cjb.3_Missense_Mutation_p.G23R	p.G235R	NM_153350	NP_699181	Q8N461	FXL16_HUMAN			2	1031	-		Hepatocellular(780;0.0218)	235					B3KR59|D3DU60|Q2MHR2|Q96S14|Q9UJI0	Missense_Mutation	SNP	ENST00000397621.1	37	c.703G>A	CCDS10421.1	.	.	.	.	.	.	.	.	.	.	c	19.67	3.871664	0.72065	.	.	ENSG00000127585	ENST00000397621;ENST00000324361	T;T	0.18502	2.21;2.21	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.56878	-0.7906	10	0.87932	D	0	.	16.7252	0.85419	0.0:1.0:0.0:0.0	.	235	Q8N461	FXL16_HUMAN	R	235	ENSP00000380746:G235R;ENSP00000318674:G235R	ENSP00000318674:G235R	G	-	1	0	FBXL16	685855	1.000000	0.71417	0.793000	0.32043	0.960000	0.62799	4.721000	0.61951	2.529000	0.85273	0.561000	0.74099	GGG		0.672	FBXL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206851.2	NM_153350	
CHTF18	63922	broad.mit.edu	37	16	839297	839297	+	Missense_Mutation	SNP	C	C	G	rs201869235	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:839297C>G	ENST00000262315.9	+	3	437	c.374C>G	c.(373-375)tCc>tGc	p.S125C	CHTF18_ENST00000317063.6_Missense_Mutation_p.S322C|CHTF18_ENST00000491530.1_3'UTR|RPUSD1_ENST00000565809.1_5'Flank|CHTF18_ENST00000455171.2_Missense_Mutation_p.S153C|RPUSD1_ENST00000007264.2_5'Flank|RPUSD1_ENST00000561734.1_5'Flank|RPUSD1_ENST00000567114.1_5'Flank	NM_022092.2	NP_071375.1	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	125					cell cycle (GO:0007049)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CCTCCCGACTCCTCGCCGACG	0.662																																						uc002ckf.4																			0				endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11						c.(457-459)tCc>tGc		Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA.							12.0	17.0	15.0					16																	839297		1928	4092	6020	SO:0001583	missense	63922				cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr16:839297C>G	BC018184	CCDS45371.1	16p13.3	2010-04-21	2003-12-09		ENSG00000127586	ENSG00000127586		"""ATPases / AAA-type"""	18435	protein-coding gene	gene with protein product		613201	"""chromosome 16 open reading frame 41"""	C16orf41		12171929	Standard	NM_022092		Approved	CHL12, C321D2.4, Ctf18	uc002cke.4	Q8WVB6	OTTHUMG00000047838	ENST00000262315.9:c.374C>G	16.37:g.839297C>G	ENSP00000262315:p.Ser125Cys					RPUSD1_uc002cka.3_5'Flank|RPUSD1_uc002ckb.3_5'Flank|CHTF18_uc010uus.1_Missense_Mutation_p.S125C|CHTF18_uc010bre.1_Non-coding_Transcript|CHTF18_uc002cke.4_Missense_Mutation_p.S125C|CHTF18_uc010brf.3_5'UTR|CHTF18_uc002ckg.4_Intron	p.S153C	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN			1	521	+		Hepatocellular(780;0.00335)	125					B7ZBA2|D3DU68|Q7Z6Y4|Q7Z6Y6|Q9BR83|Q9BRG5|Q9H7K3	Missense_Mutation	SNP	ENST00000262315.9	37	c.458C>G	CCDS45371.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340480	0.60963	.	.	ENSG00000127586	ENST00000317063;ENST00000455171;ENST00000262315	T;T;T	0.11821	2.74;2.83;2.81	5.07	3.12	0.35913	.	6.300880	0.00567	N	0.000299	T	0.33962	0.0881	L	0.60455	1.87	0.09310	N	1	D;D;D	0.69078	0.997;0.993;0.983	P;P;P	0.62740	0.906;0.8;0.533	T	0.03993	-1.0986	10	0.59425	D	0.04	-13.2965	8.6383	0.33962	0.0:0.7459:0.0:0.2541	.	125;153;125	B4DEY3;Q8WVB6-2;Q8WVB6	.;.;CTF18_HUMAN	C	322;153;125	ENSP00000313029:S322C;ENSP00000406252:S153C;ENSP00000262315:S125C	ENSP00000262315:S125C	S	+	2	0	CHTF18	779298	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.025000	0.12413	0.546000	0.28920	0.511000	0.50034	TCC		0.662	CHTF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109061.3	NM_022092	
GP2	2813	broad.mit.edu	37	16	20328646	20328646	+	Silent	SNP	G	G	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:20328646G>T	ENST00000381362.4	-	9	1390	c.1314C>A	c.(1312-1314)tcC>tcA	p.S438S	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000381360.5_Silent_p.S291S|GP2_ENST00000341642.5_Silent_p.S288S|GP2_ENST00000302555.5_Silent_p.S435S	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	438	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGCTTTCCGAGGACTGCCCAT	0.468																																						uc002dgv.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1312-1314)tcC>tcA		Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.							111.0	88.0	96.0					16																	20328646		2203	4300	6503	SO:0001819	synonymous_variant	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20328646G>T	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1314C>A	16.37:g.20328646G>T						GP2_uc002dgw.3_Silent_p.S435S|GP2_uc002dgx.3_Silent_p.S291S|GP2_uc002dgy.3_Silent_p.S288S	p.S438S	NM_001007240	NP_001007241	P55259	GP2_HUMAN			8	1397	-			438			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Silent	SNP	ENST00000381362.4	37	c.1314C>A	CCDS42128.1																																																																																				0.468	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295	
DNAH3	55567	broad.mit.edu	37	16	21053361	21053361	+	Silent	SNP	G	G	A	rs150869091	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:21053361G>A	ENST00000261383.3	-	32	4625	c.4626C>T	c.(4624-4626)ccC>ccT	p.P1542P	DNAH3_ENST00000415178.1_Silent_p.P1542P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1542	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGAGATTGTCGGGCAGTTCAG	0.512																																						uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(4624-4626)ccC>ccT		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							95.0	87.0	89.0					16																	21053361		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21053361G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4626C>T	16.37:g.21053361G>A							p.P1542P	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	31	4626	-			1542			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.4626C>T	CCDS10594.1																																																																																				0.512	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
ZNF423	23090	broad.mit.edu	37	16	49671646	49671646	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:49671646G>C	ENST00000561648.1	-	4	1470	c.1417C>G	c.(1417-1419)Cag>Gag	p.Q473E	ZNF423_ENST00000567169.1_Missense_Mutation_p.Q356E|ZNF423_ENST00000535559.1_Missense_Mutation_p.Q356E|ZNF423_ENST00000562520.1_Missense_Mutation_p.Q413E|ZNF423_ENST00000562871.1_Missense_Mutation_p.Q413E|ZNF423_ENST00000563137.2_Missense_Mutation_p.Q413E|ZNF423_ENST00000262383.2_Missense_Mutation_p.Q473E	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	473					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGCCAAACTGCATCACAGGG	0.577																																						uc002efs.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(1417-1419)Cag>Gag		Homo sapiens zinc finger protein 423 (ZNF423), mRNA.							145.0	119.0	128.0					16																	49671646		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49671646G>C	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1417C>G	16.37:g.49671646G>C	ENSP00000455426:p.Gln473Glu					ZNF423_uc010vgn.2_Missense_Mutation_p.Q356E	p.Q473E	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			4	1715	-		all_cancers(37;0.0155)	473					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.1417C>G	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.368679	0.01225	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.08008	3.14;3.2	4.96	4.96	0.65561	.	0.119123	0.64402	D	0.000014	T	0.07324	0.0185	N	0.24115	0.695	0.41185	D	0.986261	B	0.26120	0.142	B	0.22386	0.039	T	0.38023	-0.9680	9	.	.	.	.	18.2176	0.89892	0.0:0.0:1.0:0.0	.	473	Q2M1K9	ZN423_HUMAN	E	473;356	ENSP00000262383:Q473E;ENSP00000442321:Q356E	.	Q	-	1	0	ZNF423	48229147	1.000000	0.71417	0.991000	0.47740	0.759000	0.43091	7.645000	0.83430	2.298000	0.77334	0.561000	0.74099	CAG		0.577	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069	
OR1D2	4991	broad.mit.edu	37	17	2995386	2995386	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:2995386C>A	ENST00000331459.1	-	1	904	c.905G>T	c.(904-906)aGa>aTa	p.R302I		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	302					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						ATCTAGGAGTCTTCCCAGAGC	0.463																																						uc010vrb.2																			0				kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						c.(904-906)aGa>aTa		Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.							132.0	127.0	129.0					17																	2995386		2203	4300	6503	SO:0001583	missense	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2995386C>A	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.905G>T	17.37:g.2995386C>A	ENSP00000327585:p.Arg302Ile						p.R302I	NM_002548	NP_002539	P34982	OR1D2_HUMAN			0	905	-			302					Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.905G>T	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	c	13.16	2.153891	0.38021	.	.	ENSG00000184166	ENST00000331459	T	0.41065	1.01	3.21	-1.42	0.08913	.	.	.	.	.	T	0.49321	0.1550	M	0.89478	3.035	0.09310	N	1	P	0.49961	0.93	P	0.47015	0.534	T	0.46091	-0.9216	9	0.59425	D	0.04	.	5.1861	0.15185	0.0:0.3175:0.1581:0.5243	.	302	P34982	OR1D2_HUMAN	I	302	ENSP00000327585:R302I	ENSP00000327585:R302I	R	-	2	0	OR1D2	2942136	0.004000	0.15560	0.577000	0.28562	0.839000	0.47603	-0.029000	0.12329	-0.171000	0.10797	-0.324000	0.08512	AGA		0.463	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548	
NF1	4763	broad.mit.edu	37	17	29508439	29508439	+	Splice_Site	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:29508439G>A	ENST00000358273.4	+	6	969		c.e6-1		NF1_ENST00000431387.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTTTTTCCAGAAACAGCATT	0.299			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CS086350	NF1	S		c.e6-1		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							40.0	44.0	42.0					17																	29508439		2196	4290	6486	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29508439G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.587-1G>A	17.37:g.29508439G>A		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hge.2_Splice_Site_p.E196_splice|NF1_uc002hgf.2_Splice_Site_p.E196_splice|NF1_uc002hgh.3_Splice_Site_p.E196_splice|NF1_uc010csn.2_Splice_Site_p.E56_splice	p.E196_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	6	970	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	196					O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	c.587_splice	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856527	0.71834	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.151	0.93488	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26532565	1.000000	0.71417	0.999000	0.59377	0.740000	0.42216	8.675000	0.91195	2.516000	0.84829	0.591000	0.81541	.		0.299	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron
WNT9B	7484	broad.mit.edu	37	17	44949992	44949992	+	Missense_Mutation	SNP	C	C	T	rs566511950		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:44949992C>T	ENST00000290015.2	+	2	240	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	WNT9B_ENST00000393461.2_Missense_Mutation_p.R63W	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	63					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCTGTCCCGGCGGCAGAAGCA	0.682													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14015	0.0		0.0	False		,,,				2504	0.0					uc002ikw.1																			0				large_intestine(2)|lung(8)	10						c.(187-189)Cgg>Tgg		Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA.							28.0	34.0	32.0					17																	44949992		2202	4296	6498	SO:0001583	missense	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44949992C>T	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"""Wingless-type MMTV integration sites"""	12779	protein-coding gene	gene with protein product		602864	"""wingless-type MMTV integration site family, member 15"""	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.187C>T	17.37:g.44949992C>T	ENSP00000290015:p.Arg63Trp					WNT9B_uc002ikx.1_Missense_Mutation_p.R63W	p.R63W	NM_003396	NP_003387	O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		1	224	+			63					Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	37	c.187C>T	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608466	0.46527	.	.	ENSG00000158955	ENST00000393461;ENST00000290015	T;T	0.77229	-1.08;-1.08	4.48	2.27	0.28462	.	0.339051	0.29066	N	0.013241	T	0.75554	0.3865	M	0.86268	2.805	0.48185	D	0.9996	B;B	0.17465	0.022;0.003	B;B	0.15484	0.013;0.001	T	0.71626	-0.4536	9	.	.	.	.	8.0762	0.30718	0.2139:0.6946:0.0:0.0915	.	63;63	E7EPC3;O14905	.;WNT9B_HUMAN	W	63	ENSP00000377105:R63W;ENSP00000290015:R63W	.	R	+	1	2	WNT9B	42304991	0.914000	0.31030	1.000000	0.80357	0.996000	0.88848	1.791000	0.38744	1.213000	0.43380	0.455000	0.32223	CGG		0.682	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396	
IGF2BP1	10642	broad.mit.edu	37	17	47118832	47118832	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:47118832A>C	ENST00000290341.3	+	8	1245	c.911A>C	c.(910-912)cAa>cCa	p.Q304P	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.Q165P	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	304	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAGGTAGAGCAAGATACCGAG	0.498																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)	uc002iom.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(910-912)cAa>cCa		Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.							152.0	139.0	143.0					17																	47118832		2203	4300	6503	SO:0001583	missense	10642				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr17:47118832A>C	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.911A>C	17.37:g.47118832A>C	ENSP00000290341:p.Gln304Pro					IGF2BP1_uc010dbj.3_Missense_Mutation_p.Q165P	p.Q304P	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN			7	1245	+			304			KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).		C9JT33	Missense_Mutation	SNP	ENST00000290341.3	37	c.911A>C	CCDS11543.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.853636	0.91355	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.33216	1.42;1.42	5.2	5.2	0.72013	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	M	0.83603	2.65	0.80722	D	1	P;P	0.52842	0.845;0.956	P;P	0.59825	0.847;0.864	T	0.63139	-0.6704	10	0.87932	D	0	-22.1429	15.0228	0.71643	1.0:0.0:0.0:0.0	.	165;304	C9JT33;Q9NZI8	.;IF2B1_HUMAN	P	304;165	ENSP00000290341:Q304P;ENSP00000389135:Q165P	ENSP00000290341:Q304P	Q	+	2	0	IGF2BP1	44473831	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.255000	0.95524	2.102000	0.63906	0.533000	0.62120	CAA		0.498	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364046.1	NM_006546	
SDK2	54549	broad.mit.edu	37	17	71418469	71418469	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:71418469C>T	ENST00000392650.3	-	15	2002	c.2002G>A	c.(2002-2004)Gtc>Atc	p.V668I	SDK2_ENST00000388726.3_Missense_Mutation_p.V668I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	668	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACGTCGTTGACGGCACAAAGA	0.617																																						uc010dfm.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(2002-2004)Gtc>Atc		Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.							145.0	117.0	127.0					17																	71418469		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71418469C>T	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.2002G>A	17.37:g.71418469C>T	ENSP00000376421:p.Val668Ile					SDK2_uc010dfn.2_Missense_Mutation_p.V347I	p.V668I	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			14	2002	-			668			Fibronectin type-III 1.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.2002G>A	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161112	0.78226	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	T;T	0.61627	0.09;0.09	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.58736	0.2143	M	0.62209	1.925	0.58432	D	0.999996	P;P	0.42456	0.78;0.463	B;B	0.42214	0.38;0.308	T	0.57201	-0.7852	10	0.22109	T	0.4	.	18.1572	0.89696	0.0:1.0:0.0:0.0	.	668;668	Q58EX2-2;Q58EX2	.;SDK2_HUMAN	I	292;668;668;668	ENSP00000376421:V668I;ENSP00000373378:V668I	ENSP00000324967:V668I	V	-	1	0	SDK2	68930064	1.000000	0.71417	0.981000	0.43875	0.924000	0.55760	5.719000	0.68462	2.373000	0.80994	0.462000	0.41574	GTC		0.617	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064	
LAMA1	284217	broad.mit.edu	37	18	6999962	6999962	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr18:6999962C>T	ENST00000389658.3	-	31	4510	c.4417G>A	c.(4417-4419)Gat>Aat	p.D1473N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1473	Laminin EGF-like 16. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CAACGGAAATCGTGGTCCCCT	0.423																																						uc002knm.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(4417-4419)Gat>Aat		Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						77.0	68.0	71.0					18																	6999962		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6999962C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4417G>A	18.37:g.6999962C>T	ENSP00000374309:p.Asp1473Asn					LAMA1_uc010wzj.2_Missense_Mutation_p.D949N	p.D1473N	NM_005559	NP_005550	P25391	LAMA1_HUMAN			30	4511	-		Colorectal(10;0.172)	1473			Laminin EGF-like 16.			Missense_Mutation	SNP	ENST00000389658.3	37	c.4417G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327862	0.41197	.	.	ENSG00000101680	ENST00000389658	T	0.61158	0.13	5.43	3.67	0.42095	EGF-like, laminin (3);	0.191472	0.42821	N	0.000643	T	0.55721	0.1938	L	0.52364	1.645	0.42989	D	0.994482	D	0.57257	0.979	P	0.49252	0.604	T	0.51585	-0.8687	10	0.13108	T	0.6	.	13.8531	0.63510	0.0:0.9086:0.0:0.0914	.	1473	P25391	LAMA1_HUMAN	N	1473	ENSP00000374309:D1473N	ENSP00000374309:D1473N	D	-	1	0	LAMA1	6989962	0.982000	0.34865	0.008000	0.14137	0.023000	0.10783	2.781000	0.47750	0.691000	0.31592	-0.726000	0.03593	GAT		0.423	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
RIOK3	8780	broad.mit.edu	37	18	21043044	21043044	+	Splice_Site	SNP	G	G	A	rs373422920		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr18:21043044G>A	ENST00000339486.3	+	2	796		c.e2+1		RIOK3_ENST00000581585.1_Splice_Site|RIOK3_ENST00000577501.1_Splice_Site	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3						chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTGAAGTTGCGTAAGTAAAAT	0.363																																						uc002kui.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10						c.e2+1		Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.		G		1,4405	2.1+/-5.4	0,1,2202	108.0	106.0	107.0			5.7	1.0	18		107	0,8600		0,0,4300	no	splice-5	RIOK3	NM_003831.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077			21043044	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	8780				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr18:21043044G>A	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.179+1G>A	18.37:g.21043044G>A						RIOK3_uc010dls.3_Splice_Site_p.A60_splice|RIOK3_uc010xas.2_Splice_Site_p.A60_splice	p.A60_splice	NM_003831	NP_003822	O14730	RIOK3_HUMAN			2	796	+	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)		60					Q8IXN9	Splice_Site	SNP	ENST00000339486.3	37	c.179_splice	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.627788	0.66901	2.27E-4	0.0	ENSG00000101782	ENST00000339486	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9283	0.97112	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RIOK3	19297042	1.000000	0.71417	0.966000	0.40874	0.708000	0.40852	5.957000	0.70323	2.708000	0.92522	0.585000	0.79938	.		0.363	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831	Intron
DOCK6	57572	broad.mit.edu	37	19	11353971	11353971	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:11353971C>T	ENST00000294618.7	-	12	1360	c.1349G>A	c.(1348-1350)cGt>cAt	p.R450H		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	450					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CGTGGCTGGACGGAAGCCAGA	0.677											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mqs.4																			0		p.R450C(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(1348-1350)cGt>cAt		Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.							23.0	28.0	27.0					19																	11353971		1981	4145	6126	SO:0001583	missense	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11353971C>T		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.1349G>A	19.37:g.11353971C>T	ENSP00000294618:p.Arg450His		OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	671		p.R450H	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			11	1390	-			450					A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	ENST00000294618.7	37	c.1349G>A	CCDS45975.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991010	0.93106	.	.	ENSG00000130158	ENST00000294618	T	0.38077	1.16	4.15	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.62720	0.2451	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.70850	-0.4760	10	0.87932	D	0	-23.5216	15.2295	0.73374	0.0:1.0:0.0:0.0	.	450	Q96HP0	DOCK6_HUMAN	H	450	ENSP00000294618:R450H	ENSP00000294618:R450H	R	-	2	0	DOCK6	11214971	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.068000	0.76748	1.861000	0.53984	0.462000	0.41574	CGT		0.677	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812	
OR7A10	390892	broad.mit.edu	37	19	14952342	14952342	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:14952342G>A	ENST00000248058.1	-	1	347	c.348C>T	c.(346-348)acC>acT	p.T116T		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					AGGCCATCACGGTCAGAAGGA	0.483																																						uc002mzx.1																			0				NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19						c.(346-348)acC>acT		Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA.							105.0	90.0	95.0					19																	14952342		2203	4300	6503	SO:0001819	synonymous_variant	390892				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14952342G>A		CCDS32936.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.348C>T	19.37:g.14952342G>A							p.T116T	NM_001005190	NP_001005190	O76100	OR7AA_HUMAN			0	348	-	Ovarian(108;0.203)		116					Q6IFP0|Q96R97	Silent	SNP	ENST00000248058.1	37	c.348C>T	CCDS32936.1																																																																																				0.483	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190	
FCGBP	8857	broad.mit.edu	37	19	40364217	40364217	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:40364217G>A	ENST00000221347.6	-	31	14432	c.14425C>T	c.(14425-14427)Ccg>Tcg	p.P4809S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4809						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCAGGGCCCGGGTAGAAGACC	0.657																																						uc002omp.4																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(14425-14427)Ccg>Tcg		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							35.0	37.0	36.0					19																	40364217		2203	4300	6503	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40364217G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14425C>T	19.37:g.40364217G>A	ENSP00000221347:p.Pro4809Ser						p.P4809S	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		30	14433	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4809					O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.14425C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	9.307	1.054507	0.19907	.	.	ENSG00000090920	ENST00000221347	T	0.03580	3.88	5.04	5.04	0.67666	.	0.000000	0.64402	U	0.000001	T	0.20047	0.0482	M	0.88704	2.975	0.34489	D	0.704716	D	0.76494	0.999	D	0.75484	0.986	T	0.42189	-0.9466	10	0.09843	T	0.71	.	17.511	0.87760	0.0:0.0:1.0:0.0	.	4809	Q9Y6R7	FCGBP_HUMAN	S	4809	ENSP00000221347:P4809S	ENSP00000221347:P4809S	P	-	1	0	FCGBP	45056057	1.000000	0.71417	0.998000	0.56505	0.315000	0.28087	1.472000	0.35376	2.520000	0.84964	0.313000	0.20887	CCG		0.657	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
EML2	24139	broad.mit.edu	37	19	46112931	46112931	+	Missense_Mutation	SNP	C	C	T	rs190700619	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:46112931C>T	ENST00000245925.3	-	19	1990	c.1940G>A	c.(1939-1941)cGg>cAg	p.R647Q	EML2_ENST00000587152.1_Missense_Mutation_p.R848Q|EML2_ENST00000589876.1_Intron|EML2_ENST00000536630.1_Missense_Mutation_p.R794Q	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	647	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TCAGACCACCCGCCACTGTAG	0.537													C|||	6	0.00119808	0.0	0.0	5008	,	,		15532	0.001		0.0	False		,,,				2504	0.0051					uc010xxm.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31						c.(2542-2544)cGg>cAg		Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.							103.0	82.0	89.0					19																	46112931		2203	4300	6503	SO:0001583	missense	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46112931C>T	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1940G>A	19.37:g.46112931C>T	ENSP00000245925:p.Arg647Gln					EML2_uc002pcn.3_Missense_Mutation_p.R647Q|EML2_uc002pcp.3_Missense_Mutation_p.R531Q|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.R794Q	p.R848Q	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	21	2616	-		Ovarian(192;0.179)|all_neural(266;0.224)	647					B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	ENST00000245925.3	37	c.2543G>A	CCDS12670.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.5	4.002238	0.74932	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055	T;T	0.29917	1.55;2.78	5.18	4.12	0.48240	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);WD40-repeat-containing domain (1);	0.372457	0.26951	N	0.021675	T	0.36963	0.0986	M	0.61387	1.9	0.26680	N	0.971551	D;D;D	0.61697	0.99;0.964;0.983	P;B;P	0.50896	0.567;0.232;0.653	T	0.17992	-1.0351	10	0.33141	T	0.24	-32.8719	9.8807	0.41231	0.0:0.9048:0.0:0.0952	.	813;794;647	B7Z3Q9;B7Z3I2;O95834	.;.;EMAL2_HUMAN	Q	794;647;805	ENSP00000442365:R794Q;ENSP00000245925:R647Q	ENSP00000245925:R647Q	R	-	2	0	EML2	50804771	0.998000	0.40836	1.000000	0.80357	0.917000	0.54804	1.150000	0.31639	2.700000	0.92200	0.462000	0.41574	CGG		0.537	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155	
ELSPBP1	64100	broad.mit.edu	37	19	48525436	48525436	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:48525436C>T	ENST00000339841.2	+	6	702	c.524C>T	c.(523-525)gCg>gTg	p.A175V	ELSPBP1_ENST00000597519.1_Missense_Mutation_p.A27V	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	175					single fertilization (GO:0007338)	extracellular region (GO:0005576)				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GGAATTTCCGCGTTGGTCCCT	0.453																																						uc002pht.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10						c.(523-525)gCg>gTg		Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.							209.0	180.0	190.0					19																	48525436		2203	4300	6503	SO:0001583	missense	64100				single fertilization	extracellular region		g.chr19:48525436C>T	AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"""epididymal protein 12"""	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.524C>T	19.37:g.48525436C>T	ENSP00000340660:p.Ala175Val						p.A175V	NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)	5	702	+		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	175					Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	c.524C>T	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	C	9.322	1.058394	0.19987	.	.	ENSG00000169393	ENST00000339841	T	0.31769	1.48	3.0	3.0	0.34707	Fibronectin, type II, collagen-binding (1);Kringle-like fold (1);	0.845013	0.09913	N	0.739541	T	0.19005	0.0456	N	0.14661	0.345	0.09310	N	1	B	0.22541	0.071	B	0.09377	0.004	T	0.08700	-1.0709	10	0.30854	T	0.27	.	12.2173	0.54414	0.0:1.0:0.0:0.0	.	175	Q96BH3	ESPB1_HUMAN	V	175	ENSP00000340660:A175V	ENSP00000340660:A175V	A	+	2	0	ELSPBP1	53217248	0.010000	0.17322	0.005000	0.12908	0.069000	0.16628	0.951000	0.29135	1.968000	0.57251	0.609000	0.83330	GCG		0.453	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1		
LPIN1	23175	broad.mit.edu	37	2	11943091	11943091	+	Missense_Mutation	SNP	G	G	A	rs375865167		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:11943091G>A	ENST00000256720.2	+	14	1930	c.1837G>A	c.(1837-1839)Gca>Aca	p.A613T	LPIN1_ENST00000396097.1_Missense_Mutation_p.A343T|LPIN1_ENST00000449576.2_Missense_Mutation_p.A698T|LPIN1_ENST00000404113.2_Missense_Mutation_p.A114T|LPIN1_ENST00000425416.2_Missense_Mutation_p.A619T|LPIN1_ENST00000396099.1_Missense_Mutation_p.A655T	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	613					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GCCATCAAACGCAGGCCACCT	0.532																																						uc010yjm.2																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(2092-2094)Gca>Aca		Homo sapiens lipin 1 (LPIN1), mRNA.		G	THR/ALA	0,4406		0,0,2203	177.0	152.0	160.0		1837	-5.7	0.0	2		160	2,8598	2.2+/-6.3	0,2,4298	no	missense	LPIN1	NM_145693.1	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	613/891	11943091	2,13004	2203	4300	6503	SO:0001583	missense	23175				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	g.chr2:11943091G>A	D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1837G>A	2.37:g.11943091G>A	ENSP00000256720:p.Ala613Thr					LPIN1_uc010yjn.2_Missense_Mutation_p.A613T|LPIN1_uc002rbt.3_Missense_Mutation_p.A613T|LPIN1_uc010yjo.2_Missense_Mutation_p.A114T	p.A698T	NM_145693	NP_663731	Q14693	LPIN1_HUMAN		Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)	15	2145	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		613			C-LIP.		A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Missense_Mutation	SNP	ENST00000256720.2	37	c.2092G>A	CCDS1682.1	.	.	.	.	.	.	.	.	.	.	G	0.095	-1.161584	0.01673	0.0	2.33E-4	ENSG00000134324	ENST00000449576;ENST00000396099;ENST00000425416;ENST00000256720;ENST00000396097;ENST00000404113;ENST00000454151	T;T;T;T;T;T;T	0.80480	-1.38;-1.37;-1.37;-1.37;-1.21;-0.37;0.55	4.56	-5.7	0.02421	.	0.613558	0.17891	N	0.158537	T	0.46908	0.1417	N	0.05383	-0.06	0.09310	N	1	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.09377	0.001;0.004;0.001	T	0.52124	-0.8617	10	0.07325	T	0.83	-3.7431	1.9602	0.03385	0.2688:0.077:0.3183:0.3358	.	114;698;613	B4DET9;F5GY24;Q14693	.;.;LPIN1_HUMAN	T	698;655;619;613;343;114;140	ENSP00000397908:A698T;ENSP00000379406:A655T;ENSP00000401522:A619T;ENSP00000256720:A613T;ENSP00000379404:A343T;ENSP00000386120:A114T;ENSP00000413714:A140T	ENSP00000256720:A613T	A	+	1	0	LPIN1	11860542	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.810000	0.01729	-1.160000	0.02804	-2.048000	0.00412	GCA		0.532	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693	
IL1RL1	9173	broad.mit.edu	37	2	102959595	102959595	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:102959595T>C	ENST00000233954.1	+	7	1053	c.782T>C	c.(781-783)tTt>tCt	p.F261S	IL1RL1_ENST00000409584.1_Missense_Mutation_p.F247S|IL1RL1_ENST00000404917.2_Missense_Mutation_p.F144S|IL1RL1_ENST00000311734.2_Missense_Mutation_p.F261S	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	261	Ig-like C2-type 3.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ATTACAGACTTTGGTGAACCA	0.423																																						uc002tbu.1																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						c.(781-783)tTt>tCt		Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.							94.0	98.0	97.0					2																	102959595		2203	4300	6503	SO:0001583	missense	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102959595T>C	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.782T>C	2.37:g.102959595T>C	ENSP00000233954:p.Phe261Ser					IL1RL1_uc010ywa.2_Missense_Mutation_p.F144S|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.F261S	p.F261S	NM_016232	NP_057316	Q01638	ILRL1_HUMAN			6	1053	+			261			Ig-like C2-type 3.		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	c.782T>C	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	T	12.19	1.863742	0.32884	.	.	ENSG00000115602	ENST00000233954;ENST00000404917;ENST00000311734;ENST00000409584	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	4.95	2.42	0.29668	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.300510	0.04740	N	0.422651	T	0.17066	0.0410	M	0.75447	2.3	0.09310	N	0.999999	P;P;B	0.43826	0.714;0.818;0.357	B;B;B	0.43990	0.438;0.311;0.186	T	0.24119	-1.0169	10	0.22109	T	0.4	.	5.0451	0.14479	0.0:0.0971:0.1838:0.7191	.	144;261;261	B4E0I3;Q01638-2;Q01638	.;.;ILRL1_HUMAN	S	261;144;261;247	ENSP00000233954:F261S;ENSP00000384822:F144S;ENSP00000310371:F261S;ENSP00000386618:F247S	ENSP00000233954:F261S	F	+	2	0	IL1RL1	102326027	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	0.316000	0.19469	0.916000	0.36871	0.477000	0.44152	TTT		0.423	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232	
LRP2	4036	broad.mit.edu	37	2	170066149	170066149	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:170066149G>A	ENST00000263816.3	-	38	6568	c.6283C>T	c.(6283-6285)Cga>Tga	p.R2095*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2095					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGTGCGTTTCGTCCTGGAAGT	0.418																																						uc002ues.3																			0		p.R2095Q(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(6283-6285)Cga>Tga		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						68.0	62.0	64.0					2																	170066149		2203	4300	6503	SO:0001587	stop_gained	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170066149G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6283C>T	2.37:g.170066149G>A	ENSP00000263816:p.Arg2095*						p.R2095*	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	37	6496	-			2095					O00711|Q16215	Nonsense_Mutation	SNP	ENST00000263816.3	37	c.6283C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	48	14.011527	0.99775	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.69	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	10.4058	0.44256	0.0696:0.0:0.7964:0.134	.	.	.	.	X	2095	.	ENSP00000263816:R2095X	R	-	1	2	LRP2	169774395	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	7.857000	0.86963	1.415000	0.47037	0.655000	0.94253	CGA		0.418	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
DNAH7	56171	broad.mit.edu	37	2	196765215	196765215	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:196765215G>C	ENST00000312428.6	-	28	4439	c.4339C>G	c.(4339-4341)Ctc>Gtc	p.L1447V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1447	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCCGAAAGAGAGCCTATGGG	0.418																																						uc002utj.4																			0		p.L1447L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(4339-4341)Ctc>Gtc		Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.							110.0	105.0	106.0					2																	196765215		1902	4126	6028	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196765215G>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.4339C>G	2.37:g.196765215G>C	ENSP00000311273:p.Leu1447Val						p.L1447V	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			27	4440	-			1447			AAA 1 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.4339C>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638433	0.67130	.	.	ENSG00000118997	ENST00000312428	T	0.40476	1.03	5.02	5.02	0.67125	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.79161	0.4399	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87613	0.2505	10	0.87932	D	0	.	18.1387	0.89631	0.0:0.0:1.0:0.0	.	1447	Q8WXX0	DYH7_HUMAN	V	1447	ENSP00000311273:L1447V	ENSP00000311273:L1447V	L	-	1	0	DNAH7	196473460	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	5.437000	0.66544	2.626000	0.88956	0.557000	0.71058	CTC		0.418	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
AOX1	316	broad.mit.edu	37	2	201478598	201478598	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:201478598C>T	ENST00000374700.2	+	15	1761	c.1520C>T	c.(1519-1521)gCg>gTg	p.A507V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	507					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.A507V(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTGGGCTCGGCGCCAGGTGGG	0.473																																						uc002uvx.3																			1	Substitution - Missense(1)	p.A507V(2)|p.A507A(1)	lung(1)	breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(1519-1521)gCg>gTg		Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						94.0	91.0	92.0					2																	201478598		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201478598C>T	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1520C>T	2.37:g.201478598C>T	ENSP00000363832:p.Ala507Val					AOX1_uc010zhf.2_Missense_Mutation_p.A63V|AOX1_uc010fsu.3_5'UTR	p.A507V	NM_001159	NP_001150	Q06278	ADO_HUMAN			14	1621	+			507					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.1520C>T	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675041	0.67928	.	.	ENSG00000138356	ENST00000374700	T	0.22945	1.93	5.33	5.33	0.75918	CO dehydrogenase flavoprotein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.33206	0.0855	L	0.45744	1.44	0.80722	D	1	P	0.37708	0.606	B	0.43155	0.41	T	0.03212	-1.1060	10	0.49607	T	0.09	-45.5491	19.2079	0.93742	0.0:1.0:0.0:0.0	.	507	Q06278	ADO_HUMAN	V	507	ENSP00000363832:A507V	ENSP00000363832:A507V	A	+	2	0	AOX1	201186843	0.999000	0.42202	0.681000	0.30009	0.039000	0.13416	4.275000	0.58927	2.768000	0.95171	0.655000	0.94253	GCG		0.473	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	
FAM126B	285172	broad.mit.edu	37	2	201881771	201881771	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:201881771G>A	ENST00000418596.3	-	5	463	c.276C>T	c.(274-276)agC>agT	p.S92S		NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	92						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GTCTGTCTCGGCTAACTGTAA	0.388																																						uc002uws.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(274-276)agC>agT		Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.							97.0	95.0	96.0					2																	201881771		2203	4300	6503	SO:0001819	synonymous_variant	285172					intracellular		g.chr2:201881771G>A	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.276C>T	2.37:g.201881771G>A						FAM126B_uc002uwu.3_Silent_p.S10S|FAM126B_uc002uwv.3_Silent_p.S92S|FAM126B_uc002uww.1_Silent_p.S92S	p.S92S	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN			4	464	-			92					B2RCG7|Q4ZG87|Q53TX6	Silent	SNP	ENST00000418596.3	37	c.276C>T	CCDS2335.1																																																																																				0.388	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822	
TRPM8	79054	broad.mit.edu	37	2	234835206	234835206	+	Silent	SNP	C	C	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:234835206C>A	ENST00000324695.4	+	2	64	c.24C>A	c.(22-24)ctC>ctA	p.L8L	TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	8					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CAGCCAGGCTCAGCATGAGGA	0.522																																						uc002vvh.3																			0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(22-24)ctC>ctA		Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	Menthol(DB00825)						135.0	123.0	127.0					2																	234835206		2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234835206C>A	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.24C>A	2.37:g.234835206C>A						TRPM8_uc010fyj.3_5'UTR	p.L8L	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	1	64	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	8					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.24C>A	CCDS33407.1																																																																																				0.522	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080	
PROKR2	128674	broad.mit.edu	37	20	5282952	5282952	+	Missense_Mutation	SNP	C	C	T	rs139399061	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr20:5282952C>T	ENST00000217270.3	-	2	888	c.889G>A	c.(889-891)Gtt>Att	p.V297I	PROKR2_ENST00000546004.1_Missense_Mutation_p.V297I	NM_144773.2	NP_658986.1	Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	297					circadian rhythm (GO:0007623)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AAGTCACGAACGATGGTGAAA	0.562										HNSCC(71;0.22)																												uc010zqw.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						c.(889-891)Gtt>Att		Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.		C	ILE/VAL	0,4406		0,0,2203	148.0	111.0	124.0		889	4.1	1.0	20	dbSNP_134	124	10,8590	7.7+/-29.5	0,10,4290	yes	missense	PROKR2	NM_144773.2	29	0,10,6493	TT,TC,CC		0.1163,0.0,0.0769	possibly-damaging	297/385	5282952	10,12996	2203	4300	6503	SO:0001583	missense	128674					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr20:5282952C>T	AL121755	CCDS13089.1	20p12.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000101292	ENSG00000101292		"""GPCR / Class A : Prokineticin receptors"""	15836	protein-coding gene	gene with protein product		607123	"""G protein-coupled receptor 73-like 1"", ""Kallmann syndrome 3 (autosomal dominant)"""	GPR73L1, KAL3		11886876, 17054399	Standard	NM_144773		Approved	GPR73b, PKR2, GPRg2, dJ680N4.3	uc010zqw.2	Q8NFJ6	OTTHUMG00000031800	ENST00000217270.3:c.889G>A	20.37:g.5282952C>T	ENSP00000217270:p.Val297Ile	HNSCC(71;0.22)				PROKR2_uc010zqx.2_Missense_Mutation_p.V297I|PROKR2_uc010zqy.2_Missense_Mutation_p.V297I	p.V297I	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN			1	897	-			297					A5JUU1|Q2M3C0|Q5TDY1|Q9NTT0	Missense_Mutation	SNP	ENST00000217270.3	37	c.889G>A	CCDS13089.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375503	0.42105	0.0	0.001163	ENSG00000101292	ENST00000546004;ENST00000217270	T;T	0.37235	1.21;1.21	5.05	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.204797	0.42682	N	0.000680	T	0.34687	0.0906	L	0.31804	0.96	0.38139	D	0.938404	D	0.63880	0.993	P	0.51895	0.683	T	0.15780	-1.0425	10	0.33141	T	0.24	.	11.1459	0.48430	0.0:0.9089:0.0:0.0911	.	297	Q8NFJ6	PKR2_HUMAN	I	297	ENSP00000440790:V297I;ENSP00000217270:V297I	ENSP00000217270:V297I	V	-	1	0	PROKR2	5230952	0.903000	0.30736	1.000000	0.80357	0.963000	0.63663	1.584000	0.36589	1.132000	0.42129	0.655000	0.94253	GTT		0.562	PROKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077854.1	NM_144773	
SYCP2	10388	broad.mit.edu	37	20	58489299	58489299	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr20:58489299G>T	ENST00000357552.3	-	11	867	c.642C>A	c.(640-642)gaC>gaA	p.D214E	SYCP2_ENST00000371001.2_Missense_Mutation_p.D214E			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	214					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTACCTGTAAGTCATAATCTA	0.289																																						uc002yaz.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(640-642)gaC>gaA		Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.							63.0	59.0	60.0					20																	58489299		2201	4293	6494	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58489299G>T	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.642C>A	20.37:g.58489299G>T	ENSP00000350162:p.Asp214Glu					SYCP2_uc010gju.1_Missense_Mutation_p.D115E	p.D214E	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		9	781	-	all_lung(29;0.00344)		214					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.642C>A	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950164	0.34377	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.04360	3.64;3.64;3.64	5.1	-0.453	0.12201	.	0.180249	0.38548	N	0.001647	T	0.03564	0.0102	L	0.37750	1.13	0.26180	N	0.979734	B;P	0.41450	0.197;0.75	B;B	0.39152	0.062;0.292	T	0.39187	-0.9626	10	0.40728	T	0.16	-8.4436	5.0747	0.14625	0.4461:0.0:0.4124:0.1415	.	214;214	A2A341;Q9BX26	.;SYCP2_HUMAN	E	214	ENSP00000360040:D214E;ENSP00000350162:D214E;ENSP00000402456:D214E	ENSP00000350162:D214E	D	-	3	2	SYCP2	57922694	0.994000	0.37717	0.997000	0.53966	0.996000	0.88848	0.306000	0.19279	-0.008000	0.14320	0.655000	0.94253	GAC		0.289	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
ARFGAP1	55738	broad.mit.edu	37	20	61907550	61907550	+	Silent	SNP	C	C	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr20:61907550C>A	ENST00000370283.4	+	3	308	c.168C>A	c.(166-168)ctC>ctA	p.L56L	ARFGAP1_ENST00000370275.4_Silent_p.L56L|ARFGAP1_ENST00000547204.1_Intron|ARFGAP1_ENST00000519604.1_Intron|ARFGAP1_ENST00000519273.2_5'UTR|ARFGAP1_ENST00000353546.3_Silent_p.L56L	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	56	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GGGTTCACCTCAGGTCAGTGT	0.642																																						uc002yem.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13						c.(166-168)ctC>ctA		Homo sapiens ADP-ribosylation factor GTPase activating protein 1 (ARFGAP1), transcript variant 1, mRNA.							62.0	57.0	59.0					20																	61907550		2203	4300	6503	SO:0001819	synonymous_variant	55738				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	g.chr20:61907550C>A	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.168C>A	20.37:g.61907550C>A						ARFGAP1_uc011aas.1_Intron|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.3_Silent_p.L56L|ARFGAP1_uc002yen.3_Silent_p.L56L	p.L56L	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN			2	280	+	all_cancers(38;1.59e-09)		56			Arf-GAP.		B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Silent	SNP	ENST00000370283.4	37	c.168C>A	CCDS13515.1																																																																																				0.642	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209	
OR5H2	79310	broad.mit.edu	37	3	98001924	98001924	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:98001924T>A	ENST00000355273.2	+	1	193	c.193T>A	c.(193-195)Tac>Aac	p.Y65N	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CATCCCCATGTACTTTTTTCT	0.408																																						uc003dsj.1																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(193-195)Tac>Aac		Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.							312.0	293.0	299.0					3																	98001924		2203	4300	6503	SO:0001583	missense	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98001924T>A		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.193T>A	3.37:g.98001924T>A	ENSP00000347418:p.Tyr65Asn						p.Y65N	NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN			0	193	+			65					Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	c.193T>A	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	T	11.98	1.800533	0.31869	.	.	ENSG00000197938	ENST00000355273	T	0.15603	2.41	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36101	U	0.002786	T	0.54224	0.1845	H	0.98111	4.15	0.40608	D	0.981647	D	0.89917	1.0	D	0.91635	0.999	T	0.68062	-0.5508	10	0.87932	D	0	.	9.7235	0.40317	0.0:0.0:0.0:1.0	.	65	Q8NGV7	OR5H2_HUMAN	N	65	ENSP00000347418:Y65N	ENSP00000347418:Y65N	Y	+	1	0	OR5H2	99484614	1.000000	0.71417	0.873000	0.34254	0.029000	0.11900	5.506000	0.66993	1.458000	0.47871	0.443000	0.29094	TAC		0.408	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2		
OR5H2	79310	broad.mit.edu	37	3	98002428	98002428	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:98002428A>C	ENST00000355273.2	+	1	697	c.697A>C	c.(697-699)Aag>Cag	p.K233Q	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AATCCTAAAAAAGAAGTCTGT	0.363																																						uc003dsj.1																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(697-699)Aag>Cag		Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.							83.0	85.0	84.0					3																	98002428		2203	4300	6503	SO:0001583	missense	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98002428A>C		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.697A>C	3.37:g.98002428A>C	ENSP00000347418:p.Lys233Gln						p.K233Q	NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN			0	697	+			233					Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	c.697A>C	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	A	7.157	0.584875	0.13749	.	.	ENSG00000197938	ENST00000355273	T	0.00115	8.71	3.03	0.428	0.16499	GPCR, rhodopsin-like superfamily (1);	0.347490	0.20667	U	0.087917	T	0.00109	0.0003	L	0.32530	0.975	0.09310	N	1	B	0.20368	0.044	B	0.24974	0.057	T	0.36359	-0.9751	10	0.66056	D	0.02	.	4.2137	0.10524	0.6712:0.2063:0.1225:0.0	.	233	Q8NGV7	OR5H2_HUMAN	Q	233	ENSP00000347418:K233Q	ENSP00000347418:K233Q	K	+	1	0	OR5H2	99485118	0.941000	0.31946	0.009000	0.14445	0.013000	0.08279	5.923000	0.70045	-0.015000	0.14150	-0.811000	0.03165	AAG		0.363	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2		
SLCO2A1	6578	broad.mit.edu	37	3	133692615	133692615	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:133692615G>A	ENST00000310926.4	-	3	562	c.289C>T	c.(289-291)Cgt>Tgt	p.R97C	SLCO2A1_ENST00000478651.1_5'UTR|SLCO2A1_ENST00000493729.1_Missense_Mutation_p.R97C	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	97			R -> H (in PHOAR2). {ECO:0000269|PubMed:22553128}.		lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	AGACGTGGACGGTGCACCCGG	0.572																																						uc003eqa.4																			0		p.R97H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(289-291)Cgt>Tgt		Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.							91.0	79.0	83.0					3																	133692615		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133692615G>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.289C>T	3.37:g.133692615G>A	ENSP00000311291:p.Arg97Cys					SLCO2A1_uc011blv.2_Missense_Mutation_p.R97C|SLCO2A1_uc010htw.1_5'UTR	p.R97C	NM_005630	NP_005621	Q92959	SO2A1_HUMAN			2	563	-			97					Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.289C>T	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	g	31	5.092072	0.94149	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.55052	0.54;0.54	5.49	5.49	0.81192	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.055982	0.85682	D	0.000000	T	0.80949	0.4722	M	0.94101	3.495	0.42095	D	0.991313	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.86089	0.1549	10	0.87932	D	0	.	19.3794	0.94525	0.0:0.0:1.0:0.0	.	97;97;97	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	C	97	ENSP00000311291:R97C;ENSP00000418893:R97C	ENSP00000311291:R97C	R	-	1	0	SLCO2A1	135175305	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	7.368000	0.79567	2.553000	0.86117	0.651000	0.88453	CGT		0.572	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630	
U2SURP	23350	broad.mit.edu	37	3	142735741	142735741	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:142735741C>T	ENST00000473835.2	+	6	584	c.494C>T	c.(493-495)gCa>gTa	p.A165V	U2SURP_ENST00000493598.2_Missense_Mutation_p.A165V|U2SURP_ENST00000397933.2_5'UTR	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	165					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TCAAGATTTGCAGATCAAAAA	0.303																																						uc003evh.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(493-495)gCa>gTa		Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.							74.0	67.0	69.0					3																	142735741		1800	4078	5878	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142735741C>T	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.494C>T	3.37:g.142735741C>T	ENSP00000418563:p.Ala165Val					U2SURP_uc003evi.1_5'UTR|U2SURP_uc011bnj.1_Missense_Mutation_p.A165V|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.A165V	p.A165V	NM_001080415	NP_001073884	O15042	SR140_HUMAN			5	593	+			165					A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.494C>T	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455546	0.43634	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000493598	T;T	0.09817	2.94;2.96	5.5	5.5	0.81552	.	0.267608	0.44097	D	0.000483	T	0.05456	0.0144	N	0.01446	-0.86	0.80722	D	1	B;B;B	0.19200	0.002;0.034;0.02	B;B;B	0.10450	0.002;0.005;0.002	T	0.49890	-0.8891	10	0.28530	T	0.3	-8.6252	19.7767	0.96398	0.0:1.0:0.0:0.0	.	165;165;165	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	V	165	ENSP00000418563:A165V;ENSP00000422011:A165V	ENSP00000322376:A165V	A	+	2	0	U2SURP	144218431	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.996000	0.57009	2.748000	0.94277	0.655000	0.94253	GCA		0.303	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415	
BCHE	590	broad.mit.edu	37	3	165548715	165548715	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:165548715G>T	ENST00000264381.3	-	2	273	c.107C>A	c.(106-108)aCa>aAa	p.T36K	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	36					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TCCATTCTTTGTTGCAATTAT	0.408																																						uc003fem.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(106-108)aCa>aAa		Homo sapiens butyrylcholinesterase (BCHE), mRNA.	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						87.0	80.0	82.0					3																	165548715		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548715G>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.107C>A	3.37:g.165548715G>T	ENSP00000264381:p.Thr36Lys					BCHE_uc003fen.4_Intron	p.T36K	NM_000055	NP_000046	P06276	CHLE_HUMAN			1	267	-			36					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.107C>A	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320194	0.41096	.	.	ENSG00000114200	ENST00000264381	D	0.96365	-3.99	5.81	5.81	0.92471	Carboxylesterase, type B (1);	0.108147	0.64402	D	0.000007	D	0.98937	0.9639	H	0.97682	4.055	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99331	1.0909	10	0.87932	D	0	.	19.0644	0.93104	0.0:0.0:1.0:0.0	.	36	P06276	CHLE_HUMAN	K	36	ENSP00000264381:T36K	ENSP00000264381:T36K	T	-	2	0	BCHE	167031409	1.000000	0.71417	0.979000	0.43373	0.044000	0.14063	6.109000	0.71528	2.756000	0.94617	0.655000	0.94253	ACA		0.408	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1		
GHSR	2693	broad.mit.edu	37	3	172165593	172165593	+	Missense_Mutation	SNP	G	G	A	rs121917883		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:172165593G>A	ENST00000241256.2	-	1	653	c.611C>T	c.(610-612)gCg>gTg	p.A204V	GHSR_ENST00000427970.1_Missense_Mutation_p.A204V	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	204			A -> E (in ISSA; affects cell-surface expression; impairs constitutive activity but not the ability to respond to ghrelin). {ECO:0000269|PubMed:16511605}.		actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AGAGCGCACCGCAAACTCGGT	0.622																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	uc003fib.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	GRCh37	CM061011	GHSR	M	rs121917883	c.(610-612)gCg>gTg		Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.							51.0	41.0	45.0					3																	172165593		2203	4300	6503	SO:0001583	missense	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172165593G>A	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.611C>T	3.37:g.172165593G>A	ENSP00000241256:p.Ala204Val					GHSR_uc011bpv.2_Missense_Mutation_p.A204V	p.A204V	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		0	654	-	Ovarian(172;0.00143)|Breast(254;0.197)		204		A -> E (in ISSA; affects cell-surface expression; impairs constitutive activity but not the ability to respond to ghrelin).			Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	37	c.611C>T	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852867	0.91355	.	.	ENSG00000121853	ENST00000241256;ENST00000427970	T;T	0.41065	1.01;1.01	5.52	5.52	0.82312	GPCR, rhodopsin-like superfamily (1);	0.099608	0.64402	D	0.000002	T	0.58192	0.2105	L	0.48260	1.515	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.47522	-0.9111	10	0.21014	T	0.42	-26.5883	19.4276	0.94749	0.0:0.0:1.0:0.0	.	204;204	Q92847-2;Q92847	.;GHSR_HUMAN	V	204	ENSP00000241256:A204V;ENSP00000395344:A204V	ENSP00000241256:A204V	A	-	2	0	GHSR	173648287	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	9.869000	0.99810	2.601000	0.87937	0.455000	0.32223	GCG		0.622	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122	
CCDC158	339965	broad.mit.edu	37	4	77288530	77288530	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr4:77288530G>A	ENST00000388914.3	-	11	1899	c.1747C>T	c.(1747-1749)Cga>Tga	p.R583*		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	583										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CCAGCAGTTCGTCCATGCTGG	0.453																																						uc003hkb.4																			0		p.R583Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(1747-1749)Cga>Tga		Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.							103.0	99.0	100.0					4																	77288530		1933	4142	6075	SO:0001587	stop_gained	339965							g.chr4:77288530G>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1747C>T	4.37:g.77288530G>A	ENSP00000373566:p.Arg583*						p.R583*	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN			10	1900	-			583					Q8IYQ1|Q8N7D4|Q8N7E3	Nonsense_Mutation	SNP	ENST00000388914.3	37	c.1747C>T	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	G	41	8.639627	0.98897	.	.	ENSG00000163749	ENST00000388914	.	.	.	5.95	4.2	0.49525	.	0.091907	0.45606	D	0.000358	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1291	0.59371	0.0:0.0:0.7093:0.2907	.	.	.	.	X	583	.	ENSP00000373566:R583X	R	-	1	2	CCDC158	77507554	0.650000	0.27331	0.657000	0.29651	0.903000	0.53119	2.848000	0.48278	0.823000	0.34589	0.563000	0.77884	CGA		0.453	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784	
SEC31A	22872	broad.mit.edu	37	4	83799939	83799939	+	Missense_Mutation	SNP	C	C	T	rs375622150		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr4:83799939C>T	ENST00000395310.2	-	4	528	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	SEC31A_ENST00000355196.2_Missense_Mutation_p.A116T|SEC31A_ENST00000326950.5_Missense_Mutation_p.A116T|SEC31A_ENST00000432794.1_Missense_Mutation_p.A116T|SEC31A_ENST00000448323.1_Missense_Mutation_p.A116T|SEC31A_ENST00000508502.1_Missense_Mutation_p.A116T|SEC31A_ENST00000513858.1_Missense_Mutation_p.A116T|SEC31A_ENST00000508479.1_Missense_Mutation_p.A116T|SEC31A_ENST00000509142.1_Missense_Mutation_p.A116T|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505984.1_Missense_Mutation_p.A116T|SEC31A_ENST00000505472.1_Missense_Mutation_p.A116T|SEC31A_ENST00000311785.7_Missense_Mutation_p.A116T|SEC31A_ENST00000348405.4_Missense_Mutation_p.A116T|SEC31A_ENST00000500777.2_Missense_Mutation_p.A116T|SEC31A_ENST00000443462.2_Missense_Mutation_p.A111T	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	116					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCATTCTGGGCAATCACAACT	0.398																																						uc003hnh.3																		SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(346-348)Gcc>Acc		Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.							105.0	105.0	105.0					4																	83799939		2203	4300	6503	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83799939C>T	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.346G>A	4.37:g.83799939C>T	ENSP00000378721:p.Ala116Thr					SEC31A_uc011ccl.2_Missense_Mutation_p.A116T|SEC31A_uc003hnl.3_Missense_Mutation_p.A116T|SEC31A_uc003hng.3_Missense_Mutation_p.A116T|SEC31A_uc011ccm.2_Missense_Mutation_p.A111T|SEC31A_uc003hni.3_Missense_Mutation_p.A116T|SEC31A_uc003hnk.3_Missense_Mutation_p.A116T|SEC31A_uc003hnf.3_Missense_Mutation_p.A116T|SEC31A_uc011ccn.2_Missense_Mutation_p.A116T|SEC31A_uc003hnm.3_Missense_Mutation_p.A116T|SEC31A_uc003hnn.2_Missense_Mutation_p.A116T|SEC31A_uc003hno.3_Missense_Mutation_p.A116T	p.A116T	NM_014933	NP_055748	O94979	SC31A_HUMAN			3	526	-		Hepatocellular(203;0.114)	116					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.346G>A	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440268	0.83993	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000505984;ENST00000508479;ENST00000503058;ENST00000514326;ENST00000513323	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.62639	1.61;1.61;1.61;1.57;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;0.01;0.14;0.14	5.31	5.31	0.75309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.162693	0.53938	D	0.000046	T	0.76278	0.3965	L	0.53780	1.695	0.52099	D	0.999949	B;P;P;P;B;B;P;D;P	0.76494	0.434;0.714;0.775;0.897;0.383;0.198;0.729;0.999;0.781	B;B;B;P;B;B;B;D;B	0.87578	0.223;0.113;0.356;0.656;0.155;0.257;0.395;0.998;0.358	T	0.74000	-0.3805	10	0.41790	T	0.15	-12.5777	19.1738	0.93594	0.0:1.0:0.0:0.0	.	111;116;116;116;116;116;116;116;116	B4DIW6;B7ZL00;O94979-5;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979	.;.;.;.;.;.;.;.;SC31A_HUMAN	T	116;116;116;111;116;116;116;116;116;116;116;116;116;116;116;87;116;116	ENSP00000337602:A116T;ENSP00000426886:A116T;ENSP00000378721:A116T;ENSP00000408027:A111T;ENSP00000426569:A116T;ENSP00000407944:A116T;ENSP00000400926:A116T;ENSP00000325087:A116T;ENSP00000309070:A116T;ENSP00000421633:A116T;ENSP00000421464:A116T;ENSP00000424635:A116T;ENSP00000347329:A116T;ENSP00000424451:A116T;ENSP00000425999:A116T;ENSP00000425056:A87T;ENSP00000425555:A116T;ENSP00000426950:A116T	ENSP00000309070:A116T	A	-	1	0	SEC31A	84018963	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.743000	0.55104	2.764000	0.94973	0.655000	0.94253	GCC		0.398	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211	
PCDH18	54510	broad.mit.edu	37	4	138451923	138451923	+	Silent	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr4:138451923C>T	ENST00000344876.4	-	1	1706	c.1320G>A	c.(1318-1320)agG>agA	p.R440R	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Silent_p.R440R|PCDH18_ENST00000507846.1_Silent_p.R220R	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	440	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGGGTGTCCCCCTGTCCTCAG	0.373																																						uc003ihe.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(1318-1320)agG>agA		Homo sapiens protocadherin 18 (PCDH18), mRNA.							138.0	136.0	137.0					4																	138451923		2203	4300	6503	SO:0001819	synonymous_variant	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451923C>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1320G>A	4.37:g.138451923C>T						PCDH18_uc003ihf.4_Silent_p.R433R|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.R220R|PCDH18_uc011cha.2_Intron	p.R440R	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			0	1707	-	all_hematologic(180;0.24)		440			Cadherin 4.		A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	c.1320G>A	CCDS34064.1																																																																																				0.373	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
MYO10	4651	broad.mit.edu	37	5	16668507	16668507	+	Missense_Mutation	SNP	C	C	T	rs369799275		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:16668507C>T	ENST00000513610.1	-	40	6408	c.5954G>A	c.(5953-5955)cGt>cAt	p.R1985H	MYO10_ENST00000505695.1_Missense_Mutation_p.R1324H|MYO10_ENST00000515803.1_Missense_Mutation_p.R1324H|MYO10_ENST00000427430.2_Missense_Mutation_p.R1342H|MYO10_ENST00000274203.9_Missense_Mutation_p.R1342H	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1985	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCCCTCTCCACGCTTGTAGAC	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		18873	0.0		0.0	False		,,,				2504	0.001					uc003jft.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(5953-5955)cGt>cAt		Homo sapiens myosin X (MYO10), mRNA.		C	HIS/ARG	0,4102		0,0,2051	85.0	86.0	86.0		5954	5.1	1.0	5		86	1,8445		0,1,4222	no	missense	MYO10	NM_012334.2	29	0,1,6273	TT,TC,CC		0.0118,0.0,0.0080	probably-damaging	1985/2059	16668507	1,12547	2051	4223	6274	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16668507C>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.5954G>A	5.37:g.16668507C>T	ENSP00000421280:p.Arg1985His					MYO10_uc011cnb.2_Missense_Mutation_p.R614H|MYO10_uc011cnc.2_Missense_Mutation_p.R864H|MYO10_uc011cnd.2_Missense_Mutation_p.R1342H|MYO10_uc011cne.2_Missense_Mutation_p.R1342H|MYO10_uc010itx.3_Missense_Mutation_p.R1607H	p.R1985H	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			39	6422	-			1985			FERM.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.5954G>A	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797782	0.90538	0.0	1.18E-4	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.88201	-2.26;-2.35;-2.27;-2.35;-2.27	5.14	5.14	0.70334	FERM domain (1);	.	.	.	.	D	0.94634	0.8270	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	D	0.93433	0.6787	9	0.30078	T	0.28	.	18.621	0.91321	0.0:1.0:0.0:0.0	.	864;1625;1985	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	H	1985;1324;1342;1324;1342	ENSP00000421280:R1985H;ENSP00000425051:R1324H;ENSP00000274203:R1342H;ENSP00000421170:R1324H;ENSP00000391106:R1342H	ENSP00000274203:R1342H	R	-	2	0	MYO10	16721507	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	7.773000	0.85462	2.390000	0.81377	0.591000	0.81541	CGT		0.547	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
CDH9	1007	broad.mit.edu	37	5	26885965	26885965	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:26885965G>A	ENST00000231021.4	-	11	1812	c.1640C>T	c.(1639-1641)gCa>gTa	p.A547V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	547	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATGATTCCTGCTGTATTATC	0.318																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1639-1641)gCa>gTa		Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.							55.0	57.0	57.0					5																	26885965		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26885965G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1640C>T	5.37:g.26885965G>A	ENSP00000231021:p.Ala547Val					CDH9_uc011cnv.1_Missense_Mutation_p.A140V	p.A547V	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			10	1809	-			547			Cadherin 5.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1640C>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614655	0.87359	.	.	ENSG00000113100	ENST00000231021	T	0.20200	2.09	5.79	5.79	0.91817	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.59307	0.2184	H	0.95114	3.625	0.80722	D	1	P;D	0.57257	0.874;0.979	P;D	0.63283	0.824;0.913	T	0.71596	-0.4545	9	.	.	.	.	18.5999	0.91246	0.0:0.0:1.0:0.0	.	140;547	B4DFP0;Q9ULB4	.;CADH9_HUMAN	V	547	ENSP00000231021:A547V	.	A	-	2	0	CDH9	26921722	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	4.552000	0.60747	2.740000	0.93945	0.563000	0.77884	GCA		0.318	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
ANKHD1	54882	broad.mit.edu	37	5	139889605	139889605	+	Splice_Site	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:139889605G>A	ENST00000360839.2	+	22	4097	c.3943G>A	c.(3943-3945)Gga>Aga	p.G1315R	ANKHD1-EIF4EBP3_ENST00000532219.1_Splice_Site_p.G1315R|ANKHD1_ENST00000297183.6_Splice_Site_p.G1315R	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1315						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTTACAGGGGAGCCCACAT	0.393																																						uc003lfs.2																			0				breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57						c.e22-1		Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.							120.0	115.0	117.0					5																	139889605		2203	4300	6503	SO:0001630	splice_region_variant	404734					cytoplasm|nucleus	RNA binding	g.chr5:139889605G>A	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.3942-1G>A	5.37:g.139889605G>A						ANKHD1-EIF4EBP3_uc003lfq.2_Splice_Site_p.R1333_splice|ANKHD1-EIF4EBP3_uc003lfr.3_Splice_Site_p.R1314_splice|ANKHD1-EIF4EBP3_uc003lft.1_Splice_Site_p.R525_splice|ANKHD1-EIF4EBP3_uc003lfu.1_Splice_Site_p.R794_splice|ANKHD1-EIF4EBP3_uc003lfv.1_Splice_Site_p.R391_splice|ANKHD1-EIF4EBP3_uc011czh.1_Splice_Site_p.R53_splice|ANKHD1-EIF4EBP3_uc003lfw.3_Splice_Site	p.R1314_splice	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		22	4096	+			1314					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.3942_splice	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770159	0.69992	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219	T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62	5.63	5.63	0.86233	Ankyrin repeat-containing domain (4);	0.058745	0.64402	D	0.000002	D	0.84696	0.5529	M	0.74467	2.265	0.80722	D	1	B;P;P;D;D	0.89917	0.193;0.532;0.587;1.0;1.0	B;B;P;D;D	0.77557	0.225;0.437;0.672;0.99;0.99	D	0.84599	0.0671	10	0.56958	D	0.05	.	20.0529	0.97634	0.0:0.0:1.0:0.0	.	526;1315;1334;1315;1315	E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3	.;.;.;.;ANKH1_HUMAN	R	1315;1348;1315;1315;849;526;1334;468;1315	ENSP00000354085:G1315R;ENSP00000297183:G1315R;ENSP00000394489:G1334R;ENSP00000405602:G468R;ENSP00000432016:G1315R	ENSP00000432016:G1315R	G	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139869789	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	7.928000	0.87587	2.814000	0.96858	0.591000	0.81541	GGA		0.393	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	Missense_Mutation
PCDHA4	56144	broad.mit.edu	37	5	140188686	140188686	+	Silent	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:140188686C>T	ENST00000530339.1	+	1	1914	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	PCDHA4_ENST00000356878.4_Silent_p.D638D|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.D638D|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	638	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCTGGACGAAACGGACG	0.677																																						uc003lhi.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1912-1914)gaC>gaT		Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.							92.0	92.0	92.0					5																	140188686		2203	4300	6503	SO:0001819	synonymous_variant	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188686C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1914C>T	5.37:g.140188686C>T						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.D638D|PCDHAC2_uc011daa.2_Silent_p.D638D	p.D638D	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2015	+			649			Cadherin 6.		O75285|Q2M253	Silent	SNP	ENST00000530339.1	37	c.1914C>T	CCDS54916.1																																																																																				0.677	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907	
PCDHGB3	56102	broad.mit.edu	37	5	140751537	140751537	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:140751537C>T	ENST00000576222.1	+	1	1707	c.1576C>T	c.(1576-1578)Cgt>Tgt	p.R526C	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_5'Flank	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCAGCTGCGTGCCTTCGA	0.692																																						uc003ljw.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(1576-1578)Cgt>Tgt		Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.							37.0	44.0	42.0					5																	140751537		2132	4233	6365	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140751537C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1576C>T	5.37:g.140751537C>T	ENSP00000461862:p.Arg526Cys					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.R526C|PCDHGC5_uc011dau.2_5'Flank	p.R526C	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1576	+			528			Cadherin 5.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1576C>T	CCDS58980.1																																																																																				0.692	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
CAMK2A	815	broad.mit.edu	37	5	149602771	149602771	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:149602771C>T	ENST00000348628.6	-	17	1879	c.1214G>A	c.(1213-1215)cGg>cAg	p.R405Q	CAMK2A_ENST00000351010.6_5'UTR|CAMK2A_ENST00000398376.3_Missense_Mutation_p.R416Q	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	405					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGCTGTTCCGGGACCACAC	0.612																																						uc003lru.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15						c.(1213-1215)cGg>cAg		Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.							57.0	65.0	62.0					5																	149602771		2201	4298	6499	SO:0001583	missense	815				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:149602771C>T	AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.1214G>A	5.37:g.149602771C>T	ENSP00000261793:p.Arg405Gln					CAMK2A_uc003lrt.2_Missense_Mutation_p.R416Q	p.R405Q	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		16	1429	-		all_hematologic(541;0.224)	405					Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	ENST00000348628.6	37	c.1214G>A	CCDS43386.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730158	0.69074	.	.	ENSG00000070808	ENST00000348628;ENST00000398376	T;T	0.42513	0.97;0.97	5.02	5.02	0.67125	Protein kinase-like domain (1);Calcium/calmodulin-dependent protein kinase II, association-domain (1);	0.081845	0.48767	U	0.000174	T	0.31796	0.0808	N	0.15975	0.35	0.37842	D	0.929091	B;B;B	0.26195	0.144;0.106;0.144	B;B;B	0.28011	0.041;0.085;0.041	T	0.26189	-1.0110	10	0.49607	T	0.09	.	18.4099	0.90548	0.0:1.0:0.0:0.0	.	405;416;405	Q9UQM7;A8K161;Q7LDD5	KCC2A_HUMAN;.;.	Q	405;416	ENSP00000261793:R405Q;ENSP00000381412:R416Q	ENSP00000261793:R405Q	R	-	2	0	CAMK2A	149582964	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.201000	0.58439	2.350000	0.79820	0.456000	0.33151	CGG		0.612	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2	NM_015981	
LARP1	23367	broad.mit.edu	37	5	154188110	154188110	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:154188110G>A	ENST00000336314.4	+	16	2583	c.2559G>A	c.(2557-2559)aaG>aaA	p.K853K		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	930					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCAACAAAAAGATGTATGAGG	0.532																																						uc003lvo.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(2557-2559)aaG>aaA		Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.							77.0	75.0	76.0					5																	154188110		2203	4300	6503	SO:0001819	synonymous_variant	23367						protein binding|RNA binding	g.chr5:154188110G>A	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2559G>A	5.37:g.154188110G>A						LARP1_uc021ygh.1_Silent_p.K725K	p.K853K	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		15	2583	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	930					O94836|Q8N4M2|Q8NB73|Q9UFD7	Silent	SNP	ENST00000336314.4	37	c.2559G>A	CCDS4328.1																																																																																				0.532	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	
LARP1	23367	broad.mit.edu	37	5	154188112	154188112	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:154188112T>A	ENST00000336314.4	+	16	2585	c.2561T>A	c.(2560-2562)aTg>aAg	p.M854K		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	931					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AACAAAAAGATGTATGAGGAG	0.532																																						uc003lvo.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(2560-2562)aTg>aAg		Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.							77.0	75.0	76.0					5																	154188112		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154188112T>A	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2561T>A	5.37:g.154188112T>A	ENSP00000336721:p.Met854Lys					LARP1_uc021ygh.1_Missense_Mutation_p.M726K	p.M854K	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		15	2585	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	931					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.2561T>A	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	T	33	5.236312	0.95240	.	.	ENSG00000155506	ENST00000336314	T	0.52526	0.66	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.74481	0.3722	M	0.91510	3.215	0.80722	D	1	P;D	0.62365	0.955;0.991	P;D	0.65573	0.774;0.936	T	0.81099	-0.1086	10	0.87932	D	0	-8.1169	16.1883	0.81967	0.0:0.0:0.0:1.0	.	931;854	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	K	854	ENSP00000336721:M854K	ENSP00000336721:M854K	M	+	2	0	LARP1	154168305	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.862000	0.87013	2.231000	0.72958	0.454000	0.30748	ATG		0.532	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	
GABRA6	2559	broad.mit.edu	37	5	161116737	161116737	+	Missense_Mutation	SNP	G	G	T	rs145469537		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:161116737G>T	ENST00000274545.5	+	6	1058	c.625G>T	c.(625-627)Gat>Tat	p.D209Y	GABRA6_ENST00000523217.1_Missense_Mutation_p.D199Y|RP11-348M17.2_ENST00000521984.1_RNA			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	209					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.D209N(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TCTCCAGTATGATCTGATTGG	0.378										TCGA Ovarian(5;0.080)																												uc003lyu.2																			1	Substitution - Missense(1)	p.D209N(2)	skin(1)	breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57						c.(625-627)Gat>Tat		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						74.0	82.0	79.0					5																	161116737		2203	4298	6501	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161116737G>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.625G>T	5.37:g.161116737G>T	ENSP00000274545:p.Asp209Tyr	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_5'UTR	p.D209Y	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	963	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	209					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.625G>T	CCDS4356.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.280818|4.280818	0.80692|0.80692	.|.	.|.	ENSG00000145863|ENSG00000145863	ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691|ENST00000520000	T;T;T;T|.	0.78816|.	-1.21;-1.21;-1.21;-1.21|.	5.41|5.41	5.41|5.41	0.78517|0.78517	Neurotransmitter-gated ion-channel ligand-binding (3);|.	0.095949|.	0.64402|.	D|.	0.000001|.	T|T	0.76183|0.76183	0.3952|0.3952	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.75133|0.75133	-0.3425|-0.3425	10|5	0.46703|.	T|.	0.11|.	.|.	19.1903|19.1903	0.93663|0.93663	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	209|.	Q16445|.	GBRA6_HUMAN|.	Y|I	209;199;156;129|148	ENSP00000274545:D209Y;ENSP00000430527:D199Y;ENSP00000430212:D156Y;ENSP00000427989:D129Y|.	ENSP00000274545:D209Y|.	D|M	+|+	1|3	0|0	GABRA6|GABRA6	161049315|161049315	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.671000|9.671000	0.98627|0.98627	2.526000|2.526000	0.85167|0.85167	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.378	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		
ENPP5	59084	broad.mit.edu	37	6	46135819	46135819	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:46135819C>T	ENST00000371383.2	-	3	441	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	ENPP5_ENST00000492313.1_5'Flank|ENPP5_ENST00000230565.3_Missense_Mutation_p.V61M					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ACTTGCTTCACGTGAACACCA	0.348																																						uc003oxz.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						c.(181-183)Gtg>Atg		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.							48.0	47.0	47.0					6																	46135819		2203	4300	6503	SO:0001583	missense	59084					extracellular region|integral to membrane	hydrolase activity	g.chr6:46135819C>T	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.181G>A	6.37:g.46135819C>T	ENSP00000360436:p.Val61Met					ENPP5_uc010jzc.1_Missense_Mutation_p.V61M|ENPP5_uc011dvz.1_Intron|ENPP5_uc003oya.1_Missense_Mutation_p.V61M	p.V61M	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN			1	389	-			61						Missense_Mutation	SNP	ENST00000371383.2	37	c.181G>A	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312213	0.81358	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.73681	-0.77;-0.77	5.26	5.26	0.73747	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.86033	0.5836	M	0.82823	2.61	0.52501	D	0.999951	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.87401	0.2369	10	0.72032	D	0.01	-18.0369	19.2358	0.93858	0.0:1.0:0.0:0.0	.	61;61	A8K9X7;Q9UJA9	.;ENPP5_HUMAN	M	61	ENSP00000360436:V61M;ENSP00000230565:V61M	ENSP00000230565:V61M	V	-	1	0	ENPP5	46243778	0.998000	0.40836	0.998000	0.56505	0.912000	0.54170	3.736000	0.55052	2.613000	0.88420	0.591000	0.81541	GTG		0.348	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2		
LGSN	51557	broad.mit.edu	37	6	63991054	63991054	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:63991054T>A	ENST00000370657.4	-	4	435	c.402A>T	c.(400-402)gaA>gaT	p.E134D	LGSN_ENST00000370658.5_Missense_Mutation_p.E134D			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	134					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGTTATTCATTTCATTGTCCT	0.393																																						uc003peh.3																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(400-402)gaA>gaT		Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						118.0	114.0	115.0					6																	63991054		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63991054T>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.402A>T	6.37:g.63991054T>A	ENSP00000359691:p.Glu134Asp					LGSN_uc003pei.3_Missense_Mutation_p.E134D	p.E134D	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			3	436	-			134					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.402A>T	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.002101	0.35320	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.41758	0.99;0.99	5.57	3.13	0.36017	Glutamine synthetase, beta-Grasp (3);	0.043293	0.85682	N	0.000000	T	0.41511	0.1162	L	0.49640	1.575	0.51233	D	0.999911	D;B	0.89917	1.0;0.444	D;P	0.87578	0.998;0.473	T	0.41787	-0.9489	10	0.87932	D	0	-23.1288	6.9898	0.24750	0.0:0.0789:0.1502:0.7709	.	134;134	Q5TDP6-2;Q5TDP6	.;LGSN_HUMAN	D	134	ENSP00000359692:E134D;ENSP00000359691:E134D	ENSP00000359691:E134D	E	-	3	2	LGSN	64049013	1.000000	0.71417	0.999000	0.59377	0.017000	0.09413	1.195000	0.32186	0.384000	0.24942	0.455000	0.32223	GAA		0.393	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571	
EPHA7	2045	broad.mit.edu	37	6	93956625	93956625	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:93956625C>G	ENST00000369303.4	-	15	2795	c.2611G>C	c.(2611-2613)Gat>Cat	p.D871H		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	871	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGCCAACAATCCAACATTAGC	0.418																																						uc003poe.3																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(2611-2613)Gat>Cat		Homo sapiens EPH receptor A7 (EPHA7), mRNA.							99.0	97.0	98.0					6																	93956625		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93956625C>G	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2611G>C	6.37:g.93956625C>G	ENSP00000358309:p.Asp871His					EPHA7_uc003pof.3_Missense_Mutation_p.D866H|EPHA7_uc011eac.2_Missense_Mutation_p.D867H	p.D871H	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	14	2852	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	871			Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2611G>C	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841278	0.91197	.	.	ENSG00000135333	ENST00000369303	D	0.82803	-1.65	5.98	5.98	0.97165	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88005	0.6321	L	0.50333	1.59	0.80722	D	1	D;D;P	0.89917	1.0;0.971;0.95	D;P;P	0.81914	0.995;0.687;0.729	D	0.86547	0.1832	10	0.51188	T	0.08	.	20.452	0.99131	0.0:1.0:0.0:0.0	.	867;866;871	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	H	871	ENSP00000358309:D871H	ENSP00000358309:D871H	D	-	1	0	EPHA7	94013346	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.992000	0.70609	2.838000	0.97847	0.591000	0.81541	GAT		0.418	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		
MAN1A1	4121	broad.mit.edu	37	6	119669897	119669897	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:119669897C>G	ENST00000368468.3	-	2	775	c.334G>C	c.(334-336)Gac>Cac	p.D112H	MAN1A1_ENST00000368466.2_Missense_Mutation_p.D112H	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	112					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GCCTCCGGGTCCCCGGGTGCC	0.761																																					Ovarian(136;8 1825 12608 33541 47587)	uc003pym.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24						c.(334-336)Gac>Cac		Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.																																				SO:0001583	missense	4121				post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr6:119669897C>G	AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.334G>C	6.37:g.119669897C>G	ENSP00000357453:p.Asp112His					MAN1A1_uc010kei.2_Missense_Mutation_p.D112H	p.D112H	NM_005907	NP_005898	P33908	MA1A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)	1	776	-		all_epithelial(87;0.173)	112					E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	ENST00000368468.3	37	c.334G>C	CCDS5122.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.570842	0.45798	.	.	ENSG00000111885	ENST00000368468;ENST00000368466	T;T	0.77620	-0.66;-1.11	4.77	3.9	0.45041	.	0.301129	0.25738	N	0.028640	T	0.40297	0.1111	N	0.22421	0.69	0.27628	N	0.948125	B;B	0.17038	0.02;0.001	B;B	0.08055	0.003;0.003	T	0.17167	-1.0378	9	.	.	.	-22.5303	7.779	0.29054	0.0:0.7389:0.0:0.2611	.	112;112	Q6P052;P33908	.;MA1A1_HUMAN	H	112	ENSP00000357453:D112H;ENSP00000357451:D112H	.	D	-	1	0	MAN1A1	119711596	0.993000	0.37304	0.998000	0.56505	0.693000	0.40251	1.710000	0.37920	1.000000	0.39049	0.455000	0.32223	GAC		0.761	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042015.1	NM_005907	
MED23	9439	broad.mit.edu	37	6	131929144	131929144	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:131929144delC	ENST00000368068.3	-	12	1324	c.1145delG	c.(1144-1146)ggafs	p.G382fs	MED23_ENST00000368053.4_Frame_Shift_Del_p.G388fs|MED23_ENST00000540546.1_Frame_Shift_Del_p.G388fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.G388fs|MED23_ENST00000545957.1_Intron|MED23_ENST00000368060.3_Frame_Shift_Del_p.G382fs|MED23_ENST00000403834.3_Frame_Shift_Del_p.G388fs|MED23_ENST00000368058.1_Frame_Shift_Del_p.G388fs|MED23_ENST00000539158.1_Frame_Shift_Del_p.G382fs	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	382					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTGAATACTTCCAGAAATGAA	0.378																																						uc003qcs.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(1144-1146)ggafs		Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.							92.0	93.0	93.0					6																	131929144		2203	4300	6503	SO:0001589	frameshift_variant	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131929144delC	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.1145delG	6.37:g.131929144delC	ENSP00000357047:p.Gly382fs					MED23_uc003qcq.3_Frame_Shift_Del_p.G388fs|MED23_uc011eca.1_Intron|MED23_uc003qct.1_Frame_Shift_Del_p.G388fs|MED23_uc011ecb.1_Non-coding_Transcript	p.G382fs	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	11	1319	-	Breast(56;0.0753)		382					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Frame_Shift_Del	DEL	ENST00000368068.3	37	c.1145delG	CCDS5147.1																																																																																				0.378	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1		
ECT2L	345930	broad.mit.edu	37	6	139183819	139183819	+	Silent	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:139183819G>A	ENST00000423192.1	+	10	1415	c.1254G>A	c.(1252-1254)acG>acA	p.T418T	ECT2L_ENST00000367682.2_Silent_p.T418T|ECT2L_ENST00000541398.1_Silent_p.T349T|ECT2L_ENST00000495970.1_3'UTR			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	418							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CGTTCTTTACGGCCCCCACTG	0.463			"""N, Splice, Mis"""		ETP ALL																																	uc003qif.2				Rec	yes		6	6q24.1	345930	"""N, Splice, Mis"""	epithelial cell transforming sequence 2 oncogene-like			L			ETP ALL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1252-1254)acG>acA		Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.							85.0	81.0	82.0					6																	139183819		1942	4147	6089	SO:0001819	synonymous_variant	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139183819G>A		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1254G>A	6.37:g.139183819G>A						ECT2L_uc021zfx.1_Silent_p.T418T|ECT2L_uc011edq.1_Silent_p.T349T	p.T418T	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN			10	1579	+			418					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Silent	SNP	ENST00000423192.1	37	c.1254G>A	CCDS43508.1																																																																																				0.463	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706	
MAP3K4	4216	broad.mit.edu	37	6	161470034	161470034	+	Missense_Mutation	SNP	A	A	G			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:161470034A>G	ENST00000392142.4	+	3	878	c.730A>G	c.(730-732)Agg>Ggg	p.R244G	MAP3K4_ENST00000366919.2_Missense_Mutation_p.R244G|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R244G|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R244G	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	244					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GAAAAAAGACAGGGAGCAAAG	0.433																																						uc003qtn.3																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(730-732)Agg>Ggg		Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.							45.0	46.0	46.0					6																	161470034		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161470034A>G	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.730A>G	6.37:g.161470034A>G	ENSP00000375986:p.Arg244Gly					MAP3K4_uc010kkc.1_Missense_Mutation_p.R244G|MAP3K4_uc003qto.3_Missense_Mutation_p.R244G|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR	p.R244G	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	2	872	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	244					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.730A>G	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.710782	0.48517	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	6.14	0.438	0.16560	.	0.056120	0.64402	D	0.000001	T	0.19127	0.0459	L	0.59436	1.845	0.34887	D	0.745166	P;P	0.45348	0.825;0.856	B;B	0.41946	0.371;0.285	T	0.10382	-1.0632	10	0.21014	T	0.42	-38.3706	15.4048	0.74868	0.4767:0.5233:0.0:0.0	.	244;244	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	G	244	ENSP00000355886:R244G;ENSP00000375986:R244G;ENSP00000355887:R244G;ENSP00000297332:R244G	ENSP00000297332:R244G	R	+	1	2	MAP3K4	161390024	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.588000	0.46137	0.115000	0.18071	0.519000	0.50382	AGG		0.433	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
NPC1L1	29881	broad.mit.edu	37	7	44579249	44579249	+	Silent	SNP	G	G	A	rs148698796	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr7:44579249G>A	ENST00000289547.4	-	2	802	c.747C>T	c.(745-747)gaC>gaT	p.D249D	NPC1L1_ENST00000546276.1_Silent_p.D249D|NPC1L1_ENST00000423141.1_Silent_p.D249D|NPC1L1_ENST00000381160.3_Silent_p.D249D	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	249					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCGCCACGTCGTCACCTTGGG	0.632													G|||	3	0.000599042	0.0	0.0029	5008	,	,		17620	0.0		0.001	False		,,,				2504	0.0					uc003tlb.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(745-747)gaC>gaT		Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	Ezetimibe(DB00973)	G	,	1,4405	2.1+/-5.4	0,1,2202	64.0	60.0	61.0		747,747	-9.8	0.0	7	dbSNP_134	61	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	NPC1L1	NM_001101648.1,NM_013389.2	,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,	249/1333,249/1360	44579249	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44579249G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.747C>T	7.37:g.44579249G>A						NPC1L1_uc011kbw.2_Silent_p.D249D|NPC1L1_uc003tlc.3_Silent_p.D249D|NPC1L1_uc003tld.3_Silent_p.D249D	p.D249D	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			1	803	-			249					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.747C>T	CCDS5491.1																																																																																				0.632	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389	
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		15	Substitution - Missense(15)	p.G598V(31)|p.A597T(1)|p.A597P(1)	central_nervous_system(15)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1792-1794)gGa>gTa		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96.0	84.0	88.0					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.G598V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2039	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
CACNA2D1	781	broad.mit.edu	37	7	81598223	81598223	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr7:81598223C>T	ENST00000356253.5	-	29	2666	c.2411G>A	c.(2410-2412)gGg>gAg	p.G804E	CACNA2D1_ENST00000535308.1_Intron|CACNA2D1_ENST00000356860.3_Missense_Mutation_p.G792E			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	804					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AAGAAGTTTCCCTTGAATATA	0.284																																						uc003uhr.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2374-2376)gGg>gAg		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						93.0	101.0	99.0					7																	81598223		2203	4293	6496	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81598223C>T	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2411G>A	7.37:g.81598223C>T	ENSP00000348589:p.Gly804Glu					CACNA2D1_uc011kgy.1_Intron	p.G792E	NM_000722	NP_000713	P54289	CA2D1_HUMAN			28	2631	-			804					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.2375G>A		.	.	.	.	.	.	.	.	.	.	C	10.66	1.412566	0.25465	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.69806	-0.43;-0.43	5.07	5.07	0.68467	.	0.110187	0.64402	D	0.000006	T	0.59128	0.2171	L	0.35644	1.08	0.80722	D	1	B	0.20368	0.044	B	0.26969	0.075	T	0.53641	-0.8410	10	0.23891	T	0.37	-18.0419	16.9785	0.86321	0.0:1.0:0.0:0.0	.	792	P54289-2	.	E	792;811;804	ENSP00000349320:G792E;ENSP00000348589:G804E	ENSP00000284088:G811E	G	-	2	0	CACNA2D1	81436159	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.195000	0.65131	2.518000	0.84900	0.484000	0.47621	GGG		0.284	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			
CHMP4C	92421	broad.mit.edu	37	8	82644913	82644913	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr8:82644913G>A	ENST00000297265.4	+	1	245	c.52G>A	c.(52-54)Gcc>Acc	p.A18T		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	18	Intramolecular interaction with C- terminus. {ECO:0000250}.				abscission (GO:0009838)|cytokinesis checkpoint (GO:0031565)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of cytokinesis (GO:0032466)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|membrane (GO:0016020)|midbody (GO:0030496)	protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						TAAGAGCCGAGCCGCTCCCAG	0.587																																						uc003ycl.3																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						c.(52-54)Gcc>Acc		Homo sapiens charged multivesicular body protein 4C (CHMP4C), mRNA.							12.0	14.0	13.0					8																	82644913		2198	4289	6487	SO:0001583	missense	92421				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr8:82644913G>A	AK000049	CCDS6233.1	8q21.13	2011-09-21	2011-09-21		ENSG00000164695	ENSG00000164695		"""Charged multivesicular body proteins"""	30599	protein-coding gene	gene with protein product	"""Snf7 homologue associated with Alix 3"""	610899	"""chromatin modifying protein 4C"""			12860994 , 14678797	Standard	NM_152284		Approved	MGC22825, Shax3, VPS32C	uc003ycl.3	Q96CF2	OTTHUMG00000164726	ENST00000297265.4:c.52G>A	8.37:g.82644913G>A	ENSP00000297265:p.Ala18Thr						p.A18T	NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN			0	226	+			18			Intramolecular interaction with C- terminus (By similarity).		B2RBZ1	Missense_Mutation	SNP	ENST00000297265.4	37	c.52G>A	CCDS6233.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909164	0.33721	.	.	ENSG00000164695	ENST00000297265	T	0.54479	0.57	5.32	4.45	0.53987	.	0.359311	0.30859	N	0.008734	T	0.39600	0.1084	L	0.39397	1.21	0.18873	N	0.999983	P	0.36086	0.536	B	0.33454	0.164	T	0.26430	-1.0103	10	0.33141	T	0.24	-4.2109	9.3539	0.38155	0.1597:0.0:0.8403:0.0	.	18	Q96CF2	CHM4C_HUMAN	T	18	ENSP00000297265:A18T	ENSP00000297265:A18T	A	+	1	0	CHMP4C	82807468	0.048000	0.20356	0.028000	0.17463	0.924000	0.55760	1.428000	0.34892	1.466000	0.48025	0.655000	0.94253	GCC		0.587	CHMP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379927.1	NM_152284	
WDYHV1	55093	broad.mit.edu	37	8	124453566	124453566	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr8:124453566G>A	ENST00000287387.2	+	6	654	c.529G>A	c.(529-531)Gat>Aat	p.D177N	WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523356.1_3'UTR|WDYHV1_ENST00000523984.1_Missense_Mutation_p.D117N|WDYHV1_ENST00000518125.1_Missense_Mutation_p.D29N	NM_018024.1	NP_060494.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	177					cellular protein modification process (GO:0006464)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein-N-terminal glutamine amidohydrolase activity (GO:0070773)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						GAACCTGAACGATTTCATCAG	0.373																																						uc003yqn.1																			0		p.N176S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						c.(529-531)Gat>Aat		Homo sapiens WDYHV motif containing 1 (WDYHV1), mRNA.							58.0	50.0	53.0					8																	124453566		2203	4300	6503	SO:0001583	missense	55093				protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	g.chr8:124453566G>A	AK001066	CCDS6344.1, CCDS64965.1	8q24.13	2008-10-01	2008-10-01	2008-10-01		ENSG00000156795			25490	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 32"""	C8orf32		12477932	Standard	NM_018024		Approved	FLJ10204	uc003yqn.1	Q96HA8		ENST00000287387.2:c.529G>A	8.37:g.124453566G>A	ENSP00000287387:p.Asp177Asn					WDYHV1_uc011lij.1_Missense_Mutation_p.D117N	p.D177N	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN			5	654	+			177					B4DE68|Q9NW95	Missense_Mutation	SNP	ENST00000287387.2	37	c.529G>A	CCDS6344.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.256027	0.59321	.	.	ENSG00000156795	ENST00000287387;ENST00000523984;ENST00000518125	T;T;T	0.17528	2.27;2.27;2.27	6.02	5.14	0.70334	Protein N-terminal glutamine amidohydrolase, alpha beta roll (1);Protein N-terminal glutamine amidohydrolase (1);	0.253571	0.43579	D	0.000556	T	0.14356	0.0347	L	0.39692	1.235	0.49687	D	0.999816	B	0.23591	0.088	B	0.17722	0.019	T	0.02661	-1.1127	10	0.42905	T	0.14	-8.1564	10.4511	0.44522	0.1393:0.0:0.8607:0.0	.	177	Q96HA8	NTAQ1_HUMAN	N	177;117;29	ENSP00000287387:D177N;ENSP00000430427:D117N;ENSP00000429258:D29N	ENSP00000287387:D177N	D	+	1	0	WDYHV1	124522747	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.276000	0.58933	2.865000	0.98341	0.655000	0.94253	GAT		0.373	WDYHV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381772.1	NM_018024	
SLC45A4	57210	broad.mit.edu	37	8	142228261	142228261	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr8:142228261G>A	ENST00000024061.3	-	4	1632	c.1325C>T	c.(1324-1326)aCg>aTg	p.T442M	SLC45A4_ENST00000433583.2_Missense_Mutation_p.T435M|SLC45A4_ENST00000517878.1_Missense_Mutation_p.T493M|SLC45A4_ENST00000519067.1_Missense_Mutation_p.T442M	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGGCGCACCGTGGTCTCGCC	0.682																																						uc003ywd.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1324-1326)aCg>aTg		Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.							73.0	63.0	66.0					8																	142228261		2203	4300	6503	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142228261G>A	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.1325C>T	8.37:g.142228261G>A	ENSP00000024061:p.Thr442Met					SLC45A4_uc003ywc.1_Missense_Mutation_p.T442M|SLC45A4_uc010meq.1_Missense_Mutation_p.T440M	p.T442M	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		3	1633	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		493					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.1325C>T	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298088	0.81025	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	M	0.80332	2.49	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71184	0.912;0.972;0.96	D	0.98380	1.0558	10	0.87932	D	0	-51.259	18.8194	0.92090	0.0:0.0:1.0:0.0	.	493;442;442	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	M	442;493;435;442	ENSP00000429059:T442M;ENSP00000428137:T493M;ENSP00000400799:T435M;ENSP00000024061:T442M	ENSP00000024061:T442M	T	-	2	0	SLC45A4	142297443	1.000000	0.71417	0.994000	0.49952	0.898000	0.52572	3.501000	0.53325	2.535000	0.85469	0.561000	0.74099	ACG		0.682	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325	
RHPN1	114822	broad.mit.edu	37	8	144462083	144462083	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr8:144462083G>A	ENST00000289013.6	+	9	1131	c.1030G>A	c.(1030-1032)Gtg>Atg	p.V344M		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	344	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GACTGCCCTGGTGCATGTCAA	0.657																																						uc003yyb.3																			0				endometrium(1)|large_intestine(1)|lung(7)	9						c.(1030-1032)Gtg>Atg		Homo sapiens rhophilin, Rho GTPase binding protein 1 (RHPN1), mRNA.							43.0	55.0	51.0					8																	144462083		2147	4229	6376	SO:0001583	missense	114822				signal transduction	intracellular		g.chr8:144462083G>A	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.1030G>A	8.37:g.144462083G>A	ENSP00000289013:p.Val344Met						p.V344M	NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)		8	1163	+	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		344			BRO1.		Q8TAV1|Q96PV9	Missense_Mutation	SNP	ENST00000289013.6	37	c.1030G>A	CCDS47927.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294920	0.81025	.	.	ENSG00000158106	ENST00000289013	T	0.24151	1.87	4.53	4.53	0.55603	.	0.140928	0.47455	D	0.000238	T	0.52533	0.1740	M	0.79805	2.47	0.58432	D	0.999991	D	0.76494	0.999	D	0.68621	0.959	T	0.59820	-0.7382	10	0.59425	D	0.04	-18.1618	16.2103	0.82150	0.0:0.0:1.0:0.0	.	344	Q8TCX5-2	.	M	344	ENSP00000289013:V344M	ENSP00000289013:V344M	V	+	1	0	RHPN1	144533226	1.000000	0.71417	0.251000	0.24312	0.527000	0.34593	9.528000	0.98046	2.058000	0.61347	0.511000	0.50034	GTG		0.657	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1		
TAF1L	138474	broad.mit.edu	37	9	32633610	32633610	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr9:32633610T>A	ENST00000242310.4	-	1	2057	c.1968A>T	c.(1966-1968)caA>caT	p.Q656H	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	656					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTAGCAAAGGTTGGACTGAAT	0.502																																						uc003zrg.1																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1966-1968)caA>caT		Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.							145.0	136.0	139.0					9																	32633610		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633610T>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1968A>T	9.37:g.32633610T>A	ENSP00000418379:p.Gln656His					AX747113_uc003zrh.1_Non-coding_Transcript	p.Q656H	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	0	2058	-			656					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1968A>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.403152	0.42613	.	.	ENSG00000122728	ENST00000242310	T	0.13778	2.56	0.633	-0.894	0.10563	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.03783	0.0107	N	0.02916	-0.46	0.44619	D	0.997598	B	0.06786	0.001	B	0.10450	0.005	T	0.44019	-0.9355	10	0.15066	T	0.55	.	4.4122	0.11438	0.0:0.5608:0.0:0.4392	.	656	Q8IZX4	TAF1L_HUMAN	H	656	ENSP00000418379:Q656H	ENSP00000418379:Q656H	Q	-	3	2	TAF1L	32623610	0.980000	0.34600	0.992000	0.48379	0.765000	0.43378	-0.098000	0.11024	-0.366000	0.08064	0.164000	0.16699	CAA		0.502	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
AKAP2	11217	broad.mit.edu	37	9	112899196	112899196	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr9:112899196C>T	ENST00000259318.7	+	2	886	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	AKAP2_ENST00000434623.2_Missense_Mutation_p.R316C|AKAP2_ENST00000510514.5_Missense_Mutation_p.R458C|AKAP2_ENST00000555236.1_Missense_Mutation_p.R458C|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R458C|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R458C|AKAP2_ENST00000374525.1_Missense_Mutation_p.R316C	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	227										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						AGAGCTCATCCGCAGCCAGGC	0.512																																						uc004bei.2																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(2068-2070)Cgc>Tgc		Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.							63.0	64.0	64.0					9																	112899196		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112899196C>T	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.679C>T	9.37:g.112899196C>T	ENSP00000259318:p.Arg227Cys					PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.R458C|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.R458C|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R268C|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.R316C|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.R316C|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R276C|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.R227C|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.R227C	p.R690C	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN			8	2260	+			227					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.2068C>T	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.634185	0.67130	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.99	5.99	0.97316	.	0.144846	0.49305	D	0.000154	T	0.66733	0.2819	L	0.59436	1.845	0.51012	D	0.999905	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	P;D;D;D;P;D;D;P	0.65773	0.807;0.923;0.926;0.923;0.84;0.938;0.938;0.869	T	0.68104	-0.5497	10	0.87932	D	0	-31.5808	12.959	0.58447	0.2524:0.7476:0.0:0.0	.	227;316;310;316;317;458;458;276	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	C	458;458;458;458;316;316;276;227	ENSP00000363654:R458C;ENSP00000305861:R458C;ENSP00000451476:R458C;ENSP00000421522:R458C;ENSP00000404782:R316C;ENSP00000363649:R316C;ENSP00000419268:R276C;ENSP00000259318:R227C	ENSP00000259318:R227C	R	+	1	0	PALM2-AKAP2;AKAP2	111939017	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.417000	0.44653	2.840000	0.97914	0.655000	0.94253	CGC		0.512	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065	
PMPCA	23203	broad.mit.edu	37	9	139306464	139306464	+	Silent	SNP	G	G	A	rs201155751	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr9:139306464G>A	ENST00000371717.3	+	2	96	c.87G>A	c.(85-87)gcG>gcA	p.A29A	PMPCA_ENST00000371720.1_Silent_p.A29A|PMPCA_ENST00000399219.3_5'UTR|SDCCAG3_ENST00000371725.3_5'Flank|SDCCAG3_ENST00000298537.7_5'Flank|SDCCAG3_ENST00000357365.3_5'Flank	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	29					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GACCTCCTGCGTACAGACGGT	0.493																																						uc004chl.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14						c.(85-87)gcG>gcA		Homo sapiens peptidase (mitochondrial processing) alpha (PMPCA), nuclear gene encoding mitochondrial protein, mRNA.							137.0	115.0	123.0					9																	139306464		2203	4300	6503	SO:0001819	synonymous_variant	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139306464G>A	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.87G>A	9.37:g.139306464G>A						SDCCAG3_uc004chj.3_5'Flank|SDCCAG3_uc004chk.3_5'Flank|SDCCAG3_uc004chi.3_5'Flank|PMPCA_uc011mdy.1_Silent_p.A29A|PMPCA_uc010nbk.2_Non-coding_Transcript|PMPCA_uc011mdz.2_5'UTR|PMPCA_uc010nbl.3_5'UTR	p.A29A	NM_015160	NP_055975	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	1	92	+		Myeloproliferative disorder(178;0.0821)	29					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Silent	SNP	ENST00000371717.3	37	c.87G>A	CCDS35180.1																																																																																				0.493	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160	
KLHL13	90293	broad.mit.edu	37	X	117043736	117043736	+	Silent	SNP	C	C	T	rs377195610		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chrX:117043736C>T	ENST00000262820.3	-	5	1803	c.894G>A	c.(892-894)acG>acA	p.T298T	KLHL13_ENST00000371878.1_Silent_p.T247T|KLHL13_ENST00000371876.1_Silent_p.T247T|KLHL13_ENST00000545703.1_Silent_p.T256T|KLHL13_ENST00000469946.1_Silent_p.T247T|KLHL13_ENST00000541812.1_Silent_p.T282T|KLHL13_ENST00000540167.1_Silent_p.T282T|KLHL13_ENST00000539496.1_Silent_p.T301T|KLHL13_ENST00000371882.1_Silent_p.T247T	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	298					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGAAATCCACCGTTTGCACGT	0.423																																						uc011mtp.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(901-903)acG>acA		Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.		C	,,,,,	0,3835		0,0,0,1632,571	118.0	97.0	104.0		903,876,846,846,768,894	-8.3	0.0	X		104	1,6727		0,0,1,2428,1871	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KLHL13	NM_001168299.1,NM_001168300.1,NM_001168301.1,NM_001168302.1,NM_001168303.1,NM_033495.3	,,,,,	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	,,,,,	301/659,292/650,282/640,282/640,256/614,298/656	117043736	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117043736C>T	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.894G>A	X.37:g.117043736C>T						KLHL13_uc004eqk.3_Silent_p.T247T|KLHL13_uc004eql.3_Silent_p.T298T|KLHL13_uc011mtn.2_Silent_p.T138T|KLHL13_uc011mto.2_Silent_p.T292T|KLHL13_uc011mtq.2_Silent_p.T282T|KLHL13_uc004eqm.3_Silent_p.T256T|KLHL13_uc022cde.1_Silent_p.T282T	p.T301T	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN			5	1036	-			298					B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Silent	SNP	ENST00000262820.3	37	c.903G>A	CCDS14571.1																																																																																				0.423	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495	
