#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
SH2D1B	117157	broad.mit.edu	37	1	162368847	162368847	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr1:162368847G>C	ENST00000367929.2	-	3	338	c.229C>G	c.(229-231)Cca>Gca	p.P77A	SH2D1B_ENST00000359567.3_Intron	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	77	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				leukocyte activation involved in immune response (GO:0002366)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of innate immune response (GO:0045089)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of natural killer cell activation (GO:0032814)	intracellular (GO:0005622)	protein binding, bridging (GO:0030674)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TTTAGGCTTGGAAAGACCTGT	0.408																																						uc001gbz.1		NaN																	0				pancreas(1)	1						c.(229-231)CCA>GCA		SH2 domain containing 1B							79.0	78.0	78.0					1																	162368847		2203	4300	6503	SO:0001583	missense	117157							g.chr1:162368847G>C	AF484964	CCDS30928.1	1q23.3	2013-02-14			ENSG00000198574	ENSG00000198574		"""SH2 domain containing"""	30416	protein-coding gene	gene with protein product		608510				9000139, 11689425	Standard	NM_053282		Approved	EAT2	uc001gbz.1	O14796	OTTHUMG00000031377	ENST00000367929.2:c.229C>G	1.37:g.162368847G>C	ENSP00000356906:p.Pro77Ala					SH2D1B_uc001gca.1_Intron	p.P77A	NM_053282	NP_444512	O14796	SH21B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		3	351	-	all_hematologic(112;0.115)		77			SH2.		B2RBN6|Q5T0L1|Q8NI18|Q969K9	Missense_Mutation	SNP	ENST00000367929.2	37	c.229C>G	CCDS30928.1	.	.	.	.	.	.	.	.	.	.	G	4.130	0.022312	0.08006	.	.	ENSG00000198574	ENST00000367929	D	0.87966	-2.32	5.02	2.18	0.27775	SH2 motif (5);	0.392207	0.23830	N	0.044148	T	0.65249	0.2673	L	0.47716	1.5	0.30872	N	0.732406	B	0.09022	0.002	B	0.12837	0.008	T	0.44651	-0.9314	9	0.16896	T	0.51	-45.8953	7.0895	0.25275	0.2776:0.0:0.7224:0.0	.	77	O14796	SH21B_HUMAN	A	77	ENSP00000356906:P77A	ENSP00000356906:P77A	P	-	1	0	SH2D1B	160635471	0.898000	0.30612	0.461000	0.27105	0.025000	0.11179	0.106000	0.15354	0.315000	0.23110	-0.751000	0.03497	CCA		0.408	SH2D1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076794.1		NM_053282		5	60	0	0	0	0.021553	0	5	60		
KL	9365	broad.mit.edu	37	13	33628236	33628236	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr13:33628236G>A	ENST00000380099.3	+	2	1160	c.1152G>A	c.(1150-1152)atG>atA	p.M384I	KL_ENST00000426690.2_Missense_Mutation_p.M77I|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	384	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ACCCTCACATGAAGTTCCGCC	0.403																																						uc001uus.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1150-1152)ATG>ATA		klotho precursor							173.0	179.0	177.0					13																	33628236		2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33628236G>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1152G>A	13.37:g.33628236G>A	ENSP00000369442:p.Met384Ile					KL_uc001uur.1_Missense_Mutation_p.M77I	p.M384I	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	2	1160	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	384			Glycosyl hydrolase-1 1.|Extracellular (Potential).		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.1152G>A	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838260	0.51057	.	.	ENSG00000133116	ENST00000426690;ENST00000380099	T;T	0.28895	1.59;1.64	5.9	5.9	0.94986	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.123969	0.85682	D	0.000000	T	0.32793	0.0841	L	0.36672	1.1	0.80722	D	1	B;B	0.32409	0.078;0.37	B;B	0.38712	0.055;0.28	T	0.02603	-1.1135	10	0.22706	T	0.39	-36.9984	20.2822	0.98520	0.0:0.0:1.0:0.0	.	384;77	Q9UEF7;B3KUJ4	KLOT_HUMAN;.	I	77;384	ENSP00000399513:M77I;ENSP00000369442:M384I	ENSP00000369442:M384I	M	+	3	0	KL	32526236	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	5.480000	0.66820	2.806000	0.96561	0.655000	0.94253	ATG		0.403	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1				11	236	0	0	0	0.105934	0	11	236		
ZP2	7783	broad.mit.edu	37	16	21210985	21210985	+	Silent	SNP	G	G	A			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr16:21210985G>A	ENST00000574002.1	-	17	2315	c.1833C>T	c.(1831-1833)gtC>gtT	p.V611V	ZP2_ENST00000574091.1_Silent_p.V602V|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.V611V			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	611	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGTGGAAGTAGACCTGGAGAC	0.507																																						uc002dii.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(1831-1833)GTC>GTT		zona pellucida glycoprotein 2 preproprotein							143.0	134.0	137.0					16																	21210985		2200	4300	6500	SO:0001819	synonymous_variant	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21210985G>A	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1833C>T	16.37:g.21210985G>A						ZP2_uc010bwn.1_Silent_p.V641V	p.V611V	NM_003460	NP_003451	Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	16	1833	-			611			Extracellular (Potential).|ZP.		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Silent	SNP	ENST00000574002.1	37	c.1833C>T	CCDS10596.1																																																																																				0.507	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2				4	45	0	0	0	0.150653	0	4	45		
FAM83C	128876	broad.mit.edu	37	20	33879832	33879832	+	Silent	SNP	G	G	A			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr20:33879832G>A	ENST00000374408.3	-	1	372	c.276C>T	c.(274-276)agC>agT	p.S92S		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	92										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCTGAGCCTCGCTGAGCTCAG	0.662																																						uc010zux.1		NaN																	0				ovary(2)	2						c.(274-276)AGC>AGT		hypothetical protein LOC128876							37.0	41.0	40.0					20																	33879832		2203	4299	6502	SO:0001819	synonymous_variant	128876							g.chr20:33879832G>A	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.276C>T	20.37:g.33879832G>A						FAM83C_uc002xcb.1_5'UTR	p.S92S	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		1	394	-			92					Q14D67|Q5JWN6|Q8N276	Silent	SNP	ENST00000374408.3	37	c.276C>T	CCDS13251.1																																																																																				0.662	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3				6	43	0	0	0	0.021553	0	6	43		
GATSL3	652968	broad.mit.edu	37	22	30685448	30685448	+	Silent	SNP	C	C	G			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr22:30685448C>G	ENST00000407689.3	-	1	168	c.39G>C	c.(37-39)ctG>ctC	p.L13L	GATSL3_ENST00000404953.3_Silent_p.L13L|GATSL3_ENST00000459785.1_5'Flank|RP1-130H16.18_ENST00000447976.1_Intron	NM_001037666.2	NP_001032755.1	Q8WTX7	GATL3_HUMAN	GATS protein-like 3	13										breast(1)|endometrium(1)|lung(1)	3						GGGCGACGCTCAGCACCCGCA	0.736																																						uc003ahd.2		NaN																	0				breast(1)	1						c.(37-39)CTG>CTC		GATS protein-like 3							12.0	18.0	16.0					22																	30685448		1866	4088	5954	SO:0001819	synonymous_variant	652968							g.chr22:30685448C>G		CCDS43001.1	22q12	2010-06-23			ENSG00000239282	ENSG00000239282			34423	protein-coding gene	gene with protein product							Standard	NM_001037666		Approved			Q8WTX7	OTTHUMG00000150929	ENST00000407689.3:c.39G>C	22.37:g.30685448C>G						GATSL3_uc003ahc.2_Silent_p.L13L|GATSL3_uc003ahe.2_Silent_p.L13L|GATSL3_uc003ahf.2_Intron|GATSL3_uc003ahg.2_Intron|GATSL3_uc003ahh.2_Intron|GATSL3_uc010gvq.2_Intron|GATSL3_uc003ahi.2_Intron|GATSL3_uc010gvr.2_5'UTR|GATSL3_uc010gvs.2_5'UTR	p.L13L	NM_001037666	NP_001032755	Q8WTX7	GATL3_HUMAN			1	169	-			13					O76052|Q96ND9|Q9UIE8	Silent	SNP	ENST00000407689.3	37	c.39G>C	CCDS43001.1																																																																																				0.736	GATSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320581.2		NM_001037666		2	5	0	0	0	0.115264	0	2	5		
RBM5	10181	broad.mit.edu	37	3	50155783	50155783	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr3:50155783G>C	ENST00000347869.3	+	25	2517	c.2342G>C	c.(2341-2343)gGa>gCa	p.G781A	RP11-493K19.3_ENST00000437204.1_RNA|RP11-493K19.3_ENST00000425674.1_RNA	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	781	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.|Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGGCTAAAGGGAGCTGGCCTA	0.572																																						uc003cyg.2		NaN																	0				lung(1)	1						c.(2341-2343)GGA>GCA		RNA binding motif protein 5							84.0	72.0	77.0					3																	50155783		2203	4300	6503	SO:0001583	missense	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50155783G>C	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.2342G>C	3.37:g.50155783G>C	ENSP00000343054:p.Gly781Ala					RBM5_uc011bdk.1_Missense_Mutation_p.G609A|RBM5_uc003cyh.2_Missense_Mutation_p.G238A|uc003cyi.1_Intron	p.G781A	NM_005778	NP_005769	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	25	2490	+			781			G-patch.|Required for interaction with U2AF2.		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	ENST00000347869.3	37	c.2342G>C	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.981705	0.93044	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	T	0.32988	1.43	5.56	5.56	0.83823	D111/G-patch (3);	0.109901	0.64402	D	0.000009	T	0.55577	0.1929	M	0.72894	2.215	0.80722	D	1	P	0.44946	0.846	P	0.59546	0.859	T	0.55604	-0.8115	10	0.72032	D	0.01	-15.4196	19.5271	0.95210	0.0:0.0:1.0:0.0	.	781	P52756	RBM5_HUMAN	A	781;780;471	ENSP00000343054:G781A	ENSP00000343054:G781A	G	+	2	0	RBM5	50130787	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.259000	0.78381	2.620000	0.88729	0.650000	0.86243	GGA		0.572	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3		NM_005778		3	27	0	0	0	0.115264	0	3	27		
ARL6	84100	broad.mit.edu	37	3	97506888	97506888	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr3:97506888G>C	ENST00000463745.1	+	6	881	c.404G>C	c.(403-405)aGa>aCa	p.R135T	ARL6_ENST00000394206.1_Missense_Mutation_p.R135T|ARL6_ENST00000335979.2_Missense_Mutation_p.R135T|ARL6_ENST00000496713.1_3'UTR	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	135					cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|melanosome transport (GO:0032402)|protein polymerization (GO:0051258)|protein targeting to membrane (GO:0006612)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	axonemal microtubule (GO:0005879)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane coat (GO:0030117)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		ATGGATCTTAGAGATGCAGTG	0.318																																						uc003drv.2		NaN																	0					0						c.(403-405)AGA>ACA		ADP-ribosylation factor-like 6							88.0	89.0	89.0					3																	97506888		2203	4298	6501	SO:0001583	missense	84100	Bardet-Biedl_syndrome			cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding	g.chr3:97506888G>C	BC024239	CCDS2928.1	3q11.2	2014-05-09			ENSG00000113966	ENSG00000113966		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	13210	protein-coding gene	gene with protein product		608845		BBS3		15258860, 15314642, 21282186	Standard	NM_032146		Approved	RP55	uc003drv.3	Q9H0F7	OTTHUMG00000159189	ENST00000463745.1:c.404G>C	3.37:g.97506888G>C	ENSP00000419619:p.Arg135Thr					ARL6_uc003drw.2_RNA|ARL6_uc003dru.2_Missense_Mutation_p.R135T|ARL6_uc010hoy.2_Missense_Mutation_p.R135T	p.R135T	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)	7	717	+		Lung NSC(201;0.0193)|Prostate(884;0.174)	135					A8KA93|D3DN31	Missense_Mutation	SNP	ENST00000463745.1	37	c.404G>C	CCDS2928.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.97|13.97	2.396756|2.396756	0.42512|0.42512	.|.	.|.	ENSG00000113966|ENSG00000113966	ENST00000476753|ENST00000463745;ENST00000335979;ENST00000394206	.|D;D;D	.|0.81996	.|-1.56;-1.56;-1.56	5.49|5.49	4.62|4.62	0.57501|0.57501	.|Small GTP-binding protein domain (1);	.|0.048280	.|0.85682	.|D	.|0.000000	T|T	0.80686|0.80686	0.4670|0.4670	L|L	0.50333|0.50333	1.59|1.59	0.42729|0.42729	D|D	0.993702|0.993702	.|P	.|0.39376	.|0.67	.|B	.|0.41466	.|0.358	T|T	0.82526|0.82526	-0.0413|-0.0413	5|10	.|0.87932	.|D	.|0	.|.	12.3808|12.3808	0.55305|0.55305	0.079:0.0:0.921:0.0|0.079:0.0:0.921:0.0	.|.	.|135	.|Q9H0F7	.|ARL6_HUMAN	Q|T	30|135	.|ENSP00000419619:R135T;ENSP00000337722:R135T;ENSP00000377756:R135T	.|ENSP00000337722:R135T	E|R	+|+	1|2	0|0	ARL6|ARL6	98989578|98989578	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.795000|3.795000	0.55499|0.55499	1.453000|1.453000	0.47775|0.47775	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.318	ARL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353756.1		NM_032146		4	57	0	0	0	0.150653	0	4	57		
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682																																						uc003ejg.2		NaN																	4	Substitution - coding silent(4)		lung(2)|kidney(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(37-39)GGT>GGG		plexin A1							26.0	27.0	27.0					3																	126707544		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126707544T>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.108T>G	3.37:g.126707544T>G							p.G13G	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	43	+			36			Sema.|Extracellular (Potential).			Silent	SNP	ENST00000393409.2	37	c.39T>G	CCDS33847.2																																																																																				0.682	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1		NM_032242		9	17	0	0	0	0.09319	0	9	17		
GPR87	53836	broad.mit.edu	37	3	151011992	151011992	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr3:151011992C>G	ENST00000260843.4	-	3	1506	c.1042G>C	c.(1042-1044)Gaa>Caa	p.E348Q	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	348					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGCGAACTTCCGATCTTCTC	0.338																																						uc003eyt.2		NaN																	0				large_intestine(1)	1						c.(1042-1044)GAA>CAA		G protein-coupled receptor 87							155.0	157.0	156.0					3																	151011992		2203	4300	6503	SO:0001583	missense	53836					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151011992C>G	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.1042G>C	3.37:g.151011992C>G	ENSP00000260843:p.Glu348Gln					MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	p.E348Q	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1403	-			348			Cytoplasmic (Potential).		Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.1042G>C	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560806	0.45590	.	.	ENSG00000138271	ENST00000260843	T	0.61742	0.08	5.24	5.24	0.73138	.	0.149201	0.47093	D	0.000246	T	0.50034	0.1592	N	0.08118	0	0.49213	D	0.999769	P	0.51147	0.942	P	0.54312	0.748	T	0.49390	-0.8945	10	0.23891	T	0.37	-11.9813	16.2287	0.82318	0.0:0.8673:0.1327:0.0	.	348	Q9BY21	GPR87_HUMAN	Q	348	ENSP00000260843:E348Q	ENSP00000260843:E348Q	E	-	1	0	GPR87	152494682	0.989000	0.36119	0.631000	0.29282	0.297000	0.27493	5.651000	0.67951	2.609000	0.88269	0.655000	0.94253	GAA		0.338	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1				13	161	0	0	0	0.105934	0	13	161		
GPR87	53836	broad.mit.edu	37	3	151012106	151012106	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr3:151012106C>G	ENST00000260843.4	-	3	1392	c.928G>C	c.(928-930)Gat>Cat	p.D310H	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	310					negative regulation of adenylate cyclase activity (GO:0007194)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTATTGGATCCAGGCAAACA	0.343																																						uc003eyt.2		NaN																	0				large_intestine(1)	1						c.(928-930)GAT>CAT		G protein-coupled receptor 87							119.0	121.0	120.0					3																	151012106		2203	4300	6503	SO:0001583	missense	53836					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151012106C>G	AF237763	CCDS3157.1	3q24	2012-08-21			ENSG00000138271	ENSG00000138271		"""GPCR / Class A : Orphans"""	4538	protein-coding gene	gene with protein product		606379		GPR95		11273702	Standard	NM_023915		Approved		uc003eyt.2	Q9BY21	OTTHUMG00000159858	ENST00000260843.4:c.928G>C	3.37:g.151012106C>G	ENSP00000260843:p.Asp310His					MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	p.D310H	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1289	-			310			Helical; Name=7; (Potential).		Q5KU35|Q96JZ8|Q9BXC2	Missense_Mutation	SNP	ENST00000260843.4	37	c.928G>C	CCDS3157.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272455	0.80580	.	.	ENSG00000138271	ENST00000260843	T	0.74106	-0.81	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89291	0.6673	M	0.90759	3.145	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90921	0.4783	10	0.87932	D	0	-9.9636	19.2508	0.93925	0.0:1.0:0.0:0.0	.	310	Q9BY21	GPR87_HUMAN	H	310	ENSP00000260843:D310H	ENSP00000260843:D310H	D	-	1	0	GPR87	152494796	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.442000	0.80503	2.719000	0.93026	0.655000	0.94253	GAT		0.343	GPR87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357788.1				13	128	0	0	0	0.09319	0	13	128		
MUC4	4585	broad.mit.edu	37	3	195505813	195505814	+	Missense_Mutation	DNP	TC	TC	CT	rs199819876|rs562396488	byFrequency	TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr3:195505813_195505814TC>CT	ENST00000463781.3	-	2	13096_13097	c.12637_12638GA>AG	c.(12637-12639)GAc>AGc	p.D4213S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.D4213G(2)|p.D4213N(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGTGTCGGTGACAGGA	0.594																																						uc011bto.1		NaN																	3	Substitution - Missense(3)		endometrium(3)		0						c.(12253-12255)GAC>AGC		mucin 4 isoform a																																				SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505813_195505814TC>CT	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12637_12638delinsCT	3.37:g.195505813_195505814delinsCT	ENSP00000417498:p.Asp4213Ser					MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.D4085S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	3	12713_12714	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	DNP	ENST00000463781.3	37	c.12253_12254GA>AG	CCDS54700.1																																																																																				0.594	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406		3	2	0	0	0	0.115264	0	3	2		
WDFY3	23001	broad.mit.edu	37	4	85617303	85617303	+	Silent	SNP	T	T	C			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr4:85617303T>C	ENST00000295888.4	-	58	9128	c.8721A>G	c.(8719-8721)ctA>ctG	p.L2907L	WDFY3_ENST00000322366.6_Silent_p.L2890L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2907	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCCACTCATGTAGATGGGCAC	0.413																																						uc003hpd.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(8719-8721)CTA>CTG		WD repeat and FYVE domain containing 3 isoform							118.0	111.0	113.0					4																	85617303		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85617303T>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8721A>G	4.37:g.85617303T>C						WDFY3_uc003hpe.1_Silent_p.L518L	p.L2907L	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	58	9129	-		Hepatocellular(203;0.114)	2907			BEACH.		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.8721A>G	CCDS3609.1																																																																																				0.413	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991		7	137	0	0	0	0.038147	0	7	137		
ECI2	10455	broad.mit.edu	37	6	4116175	4116175	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr6:4116175C>T	ENST00000380118.3	-	10	1154	c.1118G>A	c.(1117-1119)gGa>gAa	p.G373E	ECI2_ENST00000413766.2_Missense_Mutation_p.G206E|C6orf201_ENST00000380175.4_Intron|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000465828.1_Missense_Mutation_p.G343E|ECI2_ENST00000361538.2_Missense_Mutation_p.G343E|ECI2_ENST00000380125.2_Missense_Mutation_p.G343E|C6orf201_ENST00000430835.2_Intron			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	373					fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						TAGCCATCTTCCCTGAAGGAC	0.403																																						uc003mwf.2		NaN																	0					0						c.(1117-1119)GGA>GAA		peroxisomal D3,D2-enoyl-CoA isomerase isoform 2							280.0	228.0	246.0					6																	4116175		2203	4300	6503	SO:0001583	missense	10455				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding	g.chr6:4116175C>T	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.1118G>A	6.37:g.4116175C>T	ENSP00000369461:p.Gly373Glu					C6orf201_uc003mwa.3_Intron|C6orf201_uc003mvz.3_Intron|C6orf201_uc011dhw.1_Intron|C6orf201_uc003mwb.3_Intron|PECI_uc003mwc.2_Missense_Mutation_p.G206E|PECI_uc003mwd.2_Missense_Mutation_p.G343E|PECI_uc003mwe.2_Missense_Mutation_p.G220E	p.G373E	NM_206836	NP_996667	O75521	ECI2_HUMAN			10	1155	-	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	373					Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	ENST00000380118.3	37	c.1118G>A	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	C	5.574	0.290757	0.10567	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000413766;ENST00000361538;ENST00000465828	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.44	-8.83	0.00806	.	0.624215	0.17240	N	0.181592	T	0.03959	0.0111	N	0.00193	-1.875	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45160	-0.9280	10	0.02654	T	1	.	10.1643	0.42871	0.0:0.1343:0.1831:0.6826	.	373	O75521	ECI2_HUMAN	E	373;343;206;343;343	ENSP00000369461:G373E;ENSP00000369468:G343E;ENSP00000406969:G206E;ENSP00000354737:G343E;ENSP00000420309:G343E	ENSP00000354737:G343E	G	-	2	0	ECI2	4061174	0.002000	0.14202	0.000000	0.03702	0.531000	0.34715	0.100000	0.15231	-1.341000	0.02225	-0.982000	0.02568	GGA		0.403	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4		NM_006117		5	59	0	0	0	0.184627	0	5	59		
PARK2	5071	broad.mit.edu	37	6	161771157	161771157	+	Missense_Mutation	SNP	T	T	G	rs182893847	byFrequency	TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr6:161771157T>G	ENST00000366898.1	-	12	1474	c.1372A>C	c.(1372-1374)Atg>Ctg	p.M458L	PARK2_ENST00000338468.3_Missense_Mutation_p.M267L|PARK2_ENST00000366896.1_Missense_Mutation_p.M309L|PARK2_ENST00000366894.1_Missense_Mutation_p.M267L|PARK2_ENST00000366897.1_Missense_Mutation_p.M430L	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	458					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TGGTCCCCCATGCAGACGCGG	0.622													T|||	7	0.00139776	0.0	0.0	5008	,	,		14202	0.0069		0.0	False		,,,				2504	0.0					uc003qtx.3		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1372-1374)ATG>CTG		parkin isoform 1							46.0	39.0	42.0					6																	161771157		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:161771157T>G		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.1372A>C	6.37:g.161771157T>G	ENSP00000355865:p.Met458Leu					PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Missense_Mutation_p.M267L|PARK2_uc003qtw.3_3'UTR|PARK2_uc003qty.3_Missense_Mutation_p.M430L|PARK2_uc003qtz.3_Missense_Mutation_p.M309L|PARK2_uc011egf.1_Missense_Mutation_p.M132L	p.M458L	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	12	1506	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	458					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.1372A>C	CCDS5281.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	T	18.41	3.618524	0.66787	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468	D;D;D;D;D	0.92595	-2.81;-2.87;-3.07;-2.46;-2.46	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.90170	0.6928	L	0.33189	0.99	0.80722	D	1	P;B;B	0.40032	0.699;0.084;0.267	P;B;B	0.58130	0.833;0.079;0.115	D	0.89603	0.3836	10	0.33141	T	0.24	.	12.7219	0.57147	0.0:0.0:0.0:1.0	.	309;430;458	Q5VVX3;Q5VVX4;O60260	.;.;PRKN2_HUMAN	L	458;430;309;267;267	ENSP00000355865:M458L;ENSP00000355863:M430L;ENSP00000355862:M309L;ENSP00000355860:M267L;ENSP00000343589:M267L	ENSP00000343589:M267L	M	-	1	0	PARK2	161691147	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.627000	0.67784	1.989000	0.58080	0.460000	0.39030	ATG		0.622	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1				3	11	0	0	0	0.115264	0	3	11		
NPSR1	387129	broad.mit.edu	37	7	34851409	34851409	+	Missense_Mutation	SNP	G	G	A	rs376690361		TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr7:34851409G>A	ENST00000360581.1	+	4	540	c.412G>A	c.(412-414)Gtc>Atc	p.V138I	NPSR1_ENST00000381539.3_Missense_Mutation_p.V138I|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000531252.1_Missense_Mutation_p.V127I|NPSR1_ENST00000359791.1_Missense_Mutation_p.V138I	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	138						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTCTACCTACGTCCTGGTGTC	0.483																																						uc003teg.1		NaN																	0				skin(3)|pancreas(1)	4						c.(412-414)GTC>ATC		G protein-coupled receptor for asthma	Halothane(DB01159)	G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	257.0	195.0	216.0		412,412	5.4	1.0	7		216	0,8600		0,0,4300	no	missense,missense	NPSR1	NM_207172.1,NM_207173.1	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	138/372,138/378	34851409	1,13005	2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34851409G>A	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.412G>A	7.37:g.34851409G>A	ENSP00000353788:p.Val138Ile					AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.V138I|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Missense_Mutation_p.V138I|NPSR1_uc010kww.1_Missense_Mutation_p.V127I|NPSR1_uc011kar.1_Intron|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron	p.V138I	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN			4	540	+			138			Helical; Name=3; (Potential).		A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.412G>A	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744287	0.89663	2.27E-4	0.0	ENSG00000187258	ENST00000360581;ENST00000359791;ENST00000531252;ENST00000381539;ENST00000334481	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.47395	0.1443	L	0.28776	0.89	0.51233	D	0.999918	D;D;D;D	0.76494	0.999;0.988;0.999;0.991	D;P;P;P	0.63192	0.912;0.78;0.882;0.86	T	0.45556	-0.9253	10	0.56958	D	0.05	-44.8354	17.6423	0.88140	0.0:0.0:1.0:0.0	.	127;138;138;138	Q6W5P4-5;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;NPSR1_HUMAN	I	138;138;127;138;10	ENSP00000353788:V138I;ENSP00000352839:V138I;ENSP00000433258:V127I;ENSP00000370950:V138I	ENSP00000334093:V10I	V	+	1	0	NPSR1	34817934	1.000000	0.71417	0.982000	0.44146	0.990000	0.78478	5.883000	0.69721	2.498000	0.84270	0.655000	0.94253	GTC		0.483	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1		NM_207173		6	98	0	0	0	0.038147	0	6	98		
CFAP69	79846	broad.mit.edu	37	7	89938595	89938595	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr7:89938595G>C	ENST00000389297.4	+	22	2820	c.2569G>C	c.(2569-2571)Gaa>Caa	p.E857Q	C7orf63_ENST00000316089.8_Missense_Mutation_p.E811Q|C7orf63_ENST00000497910.1_Missense_Mutation_p.E839Q	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		857										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AAGCCTTCAAGAAAAAGCTAT	0.294																																						uc010lep.2		NaN																	0				ovary(1)	1						c.(2569-2571)GAA>CAA		hypothetical protein LOC79846 isoform 1							83.0	80.0	81.0					7																	89938595		1793	4060	5853	SO:0001583	missense	79846						binding	g.chr7:89938595G>C																												ENST00000389297.4:c.2569G>C	7.37:g.89938595G>C	ENSP00000373948:p.Glu857Gln					C7orf63_uc011khj.1_Missense_Mutation_p.E839Q|C7orf63_uc011khk.1_Missense_Mutation_p.E373Q	p.E857Q	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN			22	2820	+			857					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.2569G>C	CCDS43613.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.92|15.92	2.975501|2.975501	0.53720|0.53720	.|.	.|.	ENSG00000105792|ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577|ENST00000412839	T;T;T;T|.	0.24538|.	2.48;2.42;2.48;1.85|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73063|0.73063	0.3539|0.3539	L|L	0.58669|0.58669	1.825|1.825	0.48341|0.48341	D|D	0.999638|0.999638	B;D|.	0.89917|.	0.239;1.0|.	B;D|.	0.87578|.	0.153;0.998|.	T|T	0.69851|0.69851	-0.5033|-0.5033	10|5	0.42905|.	T|.	0.14|.	-23.5595|-23.5595	19.5251|19.5251	0.95201|0.95201	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	839;857|.	A5D8W1-5;A5D8W1|.	.;CG063_HUMAN|.	Q|T	857;811;839;394|85	ENSP00000373948:E857Q;ENSP00000321753:E811Q;ENSP00000419549:E839Q;ENSP00000391571:E394Q|.	ENSP00000321753:E811Q|.	E|R	+|+	1|2	0|0	C7orf63|C7orf63	89776531|89776531	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.192000|0.192000	0.23643|0.23643	4.582000|4.582000	0.60957|0.60957	2.615000|2.615000	0.88500|0.88500	0.591000|0.591000	0.81541|0.81541	GAA|AGA		0.294	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4				6	78	0	0	0	0.021553	0	6	78		
ZNF706	51123	broad.mit.edu	37	8	102213962	102213962	+	Missense_Mutation	SNP	C	C	G	rs202198915	byFrequency	TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr8:102213962C>G	ENST00000520347.1	-	2	2964	c.8G>C	c.(7-9)cGt>cCt	p.R3P	ZNF706_ENST00000517844.1_Missense_Mutation_p.R3P|ZNF706_ENST00000520984.1_Missense_Mutation_p.R3P|ZNF706_ENST00000518336.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519744.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519882.1_Missense_Mutation_p.R3P|ZNF706_ENST00000311212.4_Missense_Mutation_p.R3P|ZNF706_ENST00000521272.1_Missense_Mutation_p.R3P			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	3							metal ion binding (GO:0046872)	p.R3P(2)		large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGCTGTCCACGAGCCATATC	0.398																																						uc003yka.2		NaN																	2	Substitution - Missense(2)	p.R3P(2)	ovary(2)	ovary(2)	2						c.(7-9)CGT>CCT		HSPC038 protein							66.0	63.0	64.0					8																	102213962		2203	4300	6503	SO:0001583	missense	51123					intracellular	zinc ion binding	g.chr8:102213962C>G	AF125099	CCDS6291.1	8q22.3	2005-09-22				ENSG00000120963			24992	protein-coding gene	gene with protein product						11042152	Standard	NM_001042510		Approved	HSPC038	uc031tbv.1	Q9Y5V0		ENST00000520347.1:c.8G>C	8.37:g.102213962C>G	ENSP00000430823:p.Arg3Pro					ZNF706_uc003ykb.2_Missense_Mutation_p.R3P	p.R3P	NM_001042510	NP_001035975	Q9Y5V0	ZN706_HUMAN	Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)		3	423	-	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		3					A8K362	Missense_Mutation	SNP	ENST00000520347.1	37	c.8G>C	CCDS6291.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171479	0.57584	.	.	ENSG00000120963	ENST00000520984;ENST00000311212;ENST00000519744;ENST00000517844;ENST00000520347;ENST00000519882;ENST00000521272;ENST00000518336;ENST00000523922;ENST00000520454	.	.	.	5.39	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	.	.	.	0.80722	D	1	P	0.35944	0.529	B	0.27796	0.083	T	0.52704	-0.8540	8	0.87932	D	0	-0.2165	12.1205	0.53889	0.0:0.8596:0.0:0.1404	.	3	Q9Y5V0	ZN706_HUMAN	P	3	.	ENSP00000311768:R3P	R	-	2	0	ZNF706	102283138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.963000	0.63694	1.292000	0.44672	0.655000	0.94253	CGT		0.398	ZNF706-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380477.1		NM_016096		9	30	0	0	0	0.069288	0	9	30		
MMP12	4321	broad.mit.edu	37	11	102738793	102738794	+	RNA	INS	-	-	T	rs112457531|rs5794199|rs199886633|rs68192524		TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr11:102738793_102738794insT	ENST00000532855.1	-	0	727_728							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	TGAGGAACAAGTGGTGCCTAAG	0.416																																						uc001phk.2		NaN																	0					0						c.e5+1		matrix metalloproteinase 12 preproprotein	Acetohydroxamic Acid(DB00551)																																					4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102738793_102738794insT	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102738794_102738794dupT							p.T210_splice	NM_002426	NP_002417	P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	5	675	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	Splice_Site	INS	ENST00000532855.1	37	c.630_splice																																																																																					0.416	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1		NM_002426		7	6	NaN	NaN	NaN	NaN	NaN	7	6	---	---
MPP6	51678	broad.mit.edu	37	7	24705666	24705666	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DK-A3WY-01A-11D-A22Z-08	TCGA-DK-A3WY-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fd5e4de-0e63-425d-a352-ecb88a9bcfbd	0f864c3a-117e-4d6b-a31f-79284943431e	g.chr7:24705666delA	ENST00000222644.5	+	8	1160	c.910delA	c.(910-912)aaafs	p.K308fs	MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs|MPP6_ENST00000396475.2_Frame_Shift_Del_p.K308fs			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TATAAGTAGCAAAAAAAAGAA	0.299																																						uc003swx.2		NaN																	0					0						c.(910-912)AAAfs		membrane protein, palmitoylated 6							88.0	103.0	98.0					7																	24705666		2198	4295	6493	SO:0001589	frameshift_variant	51678				protein complex assembly		protein binding	g.chr7:24705666delA	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.910delA	7.37:g.24705666delA	ENSP00000222644:p.Lys308fs					MPP6_uc003swy.2_Frame_Shift_Del_p.K304fs|MPP6_uc010kur.2_5'UTR	p.K304fs	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN			9	1209	+			304					B2RAF0	Frame_Shift_Del	DEL	ENST00000222644.5	37	c.910delA	CCDS5388.1																																																																																				0.299	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4				7	177	NaN	NaN	NaN	NaN	NaN	7	177	---	---
