#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
ESPNP	284729	broad.mit.edu	37	1	17026476	17026476	+	RNA	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr1:17026476C>T	ENST00000492551.1	-	0	1209					NR_026567.1				espin pseudogene																		CGGCTGGAGTCCTGCCTCCGT	0.736																																						uc001azn.1																			0					0						c.(1096-1098)GAC>AAC		RecName: Full=Espin; AltName: Full=Ectoplasmic specialization protein; AltName: Full=Autosomal recessive deafness type 36 protein;																																						284729							g.chr1:17026476C>T	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17026476C>T							p.D366N	NR_026567						7	1210	-									Missense_Mutation	SNP	ENST00000492551.1	37	c.1096G>A																																																																																					0.736	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1		
EMC1	23065	broad.mit.edu	37	1	19557342	19557342	+	Missense_Mutation	SNP	C	C	T	rs374969388		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr1:19557342C>T	ENST00000477853.1	-	17	2102	c.2060G>A	c.(2059-2061)cGa>cAa	p.R687Q	EMC1_ENST00000375208.3_Missense_Mutation_p.R665Q|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Missense_Mutation_p.R686Q	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	687						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TCCTACCTTTCGAAGCCGATA	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		18265	0.001		0.0	False		,,,				2504	0.0					uc001bbo.2																			0				ovary(1)	1						c.(2059-2061)CGA>CAA		hypothetical protein LOC23065 precursor		C	GLN/ARG	0,4406		0,0,2203	201.0	196.0	198.0		2060	4.4	1.0	1		198	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA0090	NM_015047.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	687/994	19557342	1,13005	2203	4300	6503	SO:0001583	missense	23065					integral to membrane	protein binding	g.chr1:19557342C>T		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2060G>A	1.37:g.19557342C>T	ENSP00000420608:p.Arg687Gln					KIAA0090_uc001bbp.2_Missense_Mutation_p.R686Q|KIAA0090_uc001bbq.2_Missense_Mutation_p.R686Q|KIAA0090_uc001bbr.2_Missense_Mutation_p.R665Q	p.R687Q	NM_015047	NP_055862	Q8N766	K0090_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)	17	2103	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)	687			Extracellular (Potential).		A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	ENST00000477853.1	37	c.2060G>A	CCDS190.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203216	0.58234	0.0	1.16E-4	ENSG00000127463	ENST00000477853;ENST00000375199;ENST00000375208	T;T;T	0.21361	2.02;2.01;2.01	5.27	4.36	0.52297	.	0.131711	0.51477	D	0.000083	T	0.09862	0.0242	N	0.25426	0.745	0.80722	D	1	B;B;P;P	0.48230	0.034;0.164;0.907;0.85	B;B;B;B	0.34038	0.027;0.045;0.174;0.084	T	0.19257	-1.0311	10	0.13853	T	0.58	-3.4762	7.76	0.28946	0.0:0.7529:0.0:0.247	.	665;686;686;687	Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.;.;.;K0090_HUMAN	Q	687;686;665	ENSP00000420608:R687Q;ENSP00000364345:R686Q;ENSP00000364354:R665Q	ENSP00000364345:R686Q	R	-	2	0	KIAA0090	19429929	0.998000	0.40836	1.000000	0.80357	0.861000	0.49209	3.574000	0.53863	1.351000	0.45789	0.561000	0.74099	CGA		0.502	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047	
HRNR	388697	broad.mit.edu	37	1	152185734	152185734	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr1:152185734C>T	ENST00000368801.2	-	3	8446	c.8371G>A	c.(8371-8373)Ggc>Agc	p.G2791S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2791					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGAGCCAGACCCATGT	0.557																																						uc001ezt.1																			0				skin(2)|ovary(1)	3						c.(8371-8373)GGC>AGC		hornerin							102.0	100.0	100.0					1																	152185734		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152185734C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.8371G>A	1.37:g.152185734C>T	ENSP00000357791:p.Gly2791Ser						p.G2791S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	8447	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2791			30.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.8371G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	8.397	0.841084	0.16891	.	.	ENSG00000197915	ENST00000368801	T	0.01902	4.57	3.69	-6.18	0.02085	.	.	.	.	.	T	0.00496	0.0016	L	0.53249	1.67	0.09310	N	1	B	0.22080	0.064	B	0.15052	0.012	T	0.49835	-0.8897	9	0.12430	T	0.62	.	1.0294	0.01535	0.2443:0.2032:0.1207:0.4317	.	2791	Q86YZ3	HORN_HUMAN	S	2791	ENSP00000357791:G2791S	ENSP00000357791:G2791S	G	-	1	0	HRNR	150452358	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.129000	0.01313	-1.925000	0.01063	-0.436000	0.05848	GGC		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
SOX13	9580	broad.mit.edu	37	1	204092264	204092265	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr1:204092264_204092265CC>AA	ENST00000367204.1	+	11	1268_1269	c.1159_1160CC>AA	c.(1159-1161)CCa>AAa	p.P387K		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	387					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GGACTCATCCCCAGCCAAGGAG	0.634																																						uc001ham.2																			0				breast(1)|central_nervous_system(1)	2						c.(1159-1161)CCA>AAA		SRY-box 13																																				SO:0001583	missense	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204092264_204092265CC>AA		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	Exception_encountered	1.37:g.204092264_204092265delinsAA	ENSP00000356172:p.Pro387Lys					SOX13_uc010pqp.1_Missense_Mutation_p.P386K|SOX13_uc010pqq.1_Missense_Mutation_p.P254K	p.P387K	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		11	1754_1755	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		387					B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	DNP	ENST00000367204.1	37	c.1159_1160CC>AA	CCDS44299.1																																																																																				0.634	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686	
REN	5972	broad.mit.edu	37	1	204125330	204125330	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr1:204125330C>A	ENST00000272190.8	-	8	964	c.936G>T	c.(934-936)ttG>ttT	p.L312F	REN_ENST00000367195.2_Missense_Mutation_p.L309F	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	312					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TCTTGGCTCCCAAGGCCTCCA	0.567																																						uc001haq.2																			0				skin(3)|central_nervous_system(1)	4						c.(934-936)TTG>TTT		renin preproprotein	Aliskiren(DB01258)|Remikiren(DB00212)						206.0	202.0	203.0					1																	204125330		2203	4300	6503	SO:0001583	missense	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204125330C>A	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.936G>T	1.37:g.204125330C>A	ENSP00000272190:p.Leu312Phe						p.L312F	NM_000537	NP_000528	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		8	980	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		312					Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	c.936G>T	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560500	0.45590	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.58210	0.35;0.35	4.73	2.55	0.30701	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.115754	0.56097	D	0.000024	T	0.62938	0.2469	L	0.59967	1.855	0.40467	D	0.980309	D	0.76494	0.999	D	0.77004	0.989	T	0.65545	-0.6142	10	0.87932	D	0	.	7.5313	0.27685	0.3113:0.5518:0.1368:0.0	.	312	P00797	RENI_HUMAN	F	309;231;312	ENSP00000356163:L309F;ENSP00000272190:L312F	ENSP00000272190:L312F	L	-	3	2	REN	202391953	0.993000	0.37304	0.990000	0.47175	0.446000	0.32137	0.210000	0.17455	2.181000	0.69327	0.462000	0.41574	TTG		0.567	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537	
PTEN	5728	broad.mit.edu	37	10	89720855	89720856	+	Frame_Shift_Ins	INS	-	-	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr10:89720855_89720856insA	ENST00000371953.3	+	8	2363_2364	c.1006_1007insA	c.(1006-1008)tacfs	p.Y336fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	336	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.W274_F341del(1)|p.Y336*(1)|p.Y336F(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGCCAACCGATACTTTTCTCCA	0.337		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		56	Whole gene deletion(37)|Deletion - Frameshift(11)|Deletion - In frame(3)|Unknown(2)|Insertion - Frameshift(1)|Substitution - Nonsense(1)|Substitution - Missense(1)	p.R55fs*1(4)|p.Y336*(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.W274_F341del(1)|p.Y336F(1)|p.D326_K342del(1)	prostate(16)|central_nervous_system(15)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)|kidney(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CI983205	PTEN	I		c.(1006-1008)TACfs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720855_89720856insA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1007dupA	10.37:g.89720856_89720856dupA	ENSP00000361021:p.Tyr336fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.Y336fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	2037_2038	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	336	Y->F: Significantly lower phosphatase activity, reduced protein stability and decreased growth-inhibitory effect.		C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.1006_1007insA	CCDS31238.1																																																																																				0.337	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
USH1C	10083	broad.mit.edu	37	11	17519716	17519716	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr11:17519716T>C	ENST00000318024.4	-	19	1691	c.1583A>G	c.(1582-1584)cAg>cGg	p.Q528R	USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527020.1_Missense_Mutation_p.Q509R|USH1C_ENST00000005226.7_Missense_Mutation_p.Q828R|USH1C_ENST00000527720.1_Missense_Mutation_p.Q497R	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	528	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TACCCCGCCCTGATTCCAGGC	0.577																																						uc001mnf.2																			0				ovary(1)	1						c.(1582-1584)CAG>CGG		harmonin isoform a							179.0	146.0	157.0					11																	17519716		2200	4293	6493	SO:0001583	missense	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17519716T>C	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1583A>G	11.37:g.17519716T>C	ENSP00000317018:p.Gln528Arg					USH1C_uc001mne.2_Missense_Mutation_p.Q828R|USH1C_uc009yhb.2_Missense_Mutation_p.Q509R|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.Q492R	p.Q528R	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN			19	1692	-			528			PDZ 3.		A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.1583A>G	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.685159	0.29872	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.03	5.03	0.67393	PDZ/DHR/GLGF (2);	0.736452	0.13326	N	0.396316	T	0.18087	0.0434	N	0.08118	0	0.24250	N	0.995323	B;B;B	0.19583	0.017;0.021;0.037	B;B;B	0.29942	0.044;0.073;0.109	T	0.25882	-1.0119	10	0.23891	T	0.37	.	9.6604	0.39952	0.1558:0.0:0.0:0.8442	.	509;528;828	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	R	528;497;509;828	ENSP00000317018:Q528R;ENSP00000432944:Q497R;ENSP00000436934:Q509R;ENSP00000005226:Q828R	ENSP00000005226:Q828R	Q	-	2	0	USH1C	17476292	0.998000	0.40836	0.997000	0.53966	0.564000	0.35744	3.068000	0.50018	1.905000	0.55150	0.459000	0.35465	CAG		0.577	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709	
PRG2	5553	broad.mit.edu	37	11	57155245	57155245	+	Missense_Mutation	SNP	C	C	T	rs374576971		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr11:57155245C>T	ENST00000311862.5	-	5	665	c.592G>A	c.(592-594)Gtg>Atg	p.V198M	PRG2_ENST00000533605.1_Missense_Mutation_p.V187M|PRG2_ENST00000525955.1_Missense_Mutation_p.V198M	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	198	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Sargramostim(DB00020)	CACAGGGCCACGCAGTGACCA	0.617																																						uc001njz.2																			0				central_nervous_system(1)	1						c.(592-594)GTG>ATG		proteoglycan 2 preproprotein	Sargramostim(DB00020)	C	MET/VAL	1,4395		0,1,2197	20.0	20.0	20.0		592	4.3	0.8	11		20	1,8585		0,1,4292	no	missense	PRG2	NM_002728.4	21	0,2,6489	TT,TC,CC		0.0116,0.0227,0.0154		198/223	57155245	2,12980	2198	4293	6491	SO:0001583	missense	5553				defense response to bacterium|immune response	extracellular region|transport vesicle	heparin binding|sugar binding	g.chr11:57155245C>T	BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.592G>A	11.37:g.57155245C>T	ENSP00000312134:p.Val198Met					PRG2_uc001njw.1_RNA|PRG2_uc001njx.1_RNA|PRG2_uc001njy.1_RNA|PRG2_uc001nka.2_Missense_Mutation_p.V198M|PRG2_uc001nkb.2_Missense_Mutation_p.V198M|PRG2_uc001nkd.2_Missense_Mutation_p.V187M|PRG2_uc001nkc.2_Missense_Mutation_p.V198M|PRG2_uc001nke.2_Missense_Mutation_p.V478M	p.V198M	NM_002728	NP_002719	P13727	PRG2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	619	-			198			C-type lectin.		A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	ENST00000311862.5	37	c.592G>A	CCDS7955.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504019	0.64410	2.27E-4	1.16E-4	ENSG00000186652	ENST00000311862;ENST00000533605;ENST00000525955	T;T;T	0.23348	1.91;1.91;1.91	5.19	4.28	0.50868	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.190670	0.25929	N	0.027397	T	0.53948	0.1828	M	0.89163	3.01	0.24761	N	0.992927	D;D	0.89917	1.0;1.0	D;D	0.83275	0.989;0.996	T	0.52298	-0.8594	10	0.87932	D	0	.	9.5057	0.39044	0.0:0.9025:0.0:0.0975	.	187;198	A6XMW0;P13727	.;PRG2_HUMAN	M	198;187;198	ENSP00000312134:V198M;ENSP00000433231:V187M;ENSP00000433016:V198M	ENSP00000312134:V198M	V	-	1	0	PRG2	56911821	0.096000	0.21769	0.793000	0.32043	0.010000	0.07245	0.478000	0.22212	1.172000	0.42781	0.650000	0.86243	GTG		0.617	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392468.1	NM_002728	
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052						c.(34-36)GGT>GAT		c-K-ras2 protein isoform a precursor							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|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;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA	p.G12D	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	216	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
AQP2	359	broad.mit.edu	37	12	50344911	50344911	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr12:50344911G>A	ENST00000199280.3	+	1	383	c.298G>A	c.(298-300)Gga>Aga	p.G100R	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	100			G -> R (in ANDI). {ECO:0000269|PubMed:16845277}.|G -> V (in ANDI; dbSNP:rs28929477). {ECO:0000269|PubMed:12050236}.		actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GGCTGTGGCCGGAGCCGCTCT	0.647																																						uc001rvn.2																			0				ovary(2)	2	GRCh37	CM062427|CM970099	AQP2	M		c.(298-300)GGA>AGA		aquaporin 2							21.0	21.0	21.0					12																	50344911		2201	4296	6497	SO:0001583	missense	359				cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity	g.chr12:50344911G>A		CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"""Ion channels / Aquaporins"""	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.298G>A	12.37:g.50344911G>A	ENSP00000199280:p.Gly100Arg						p.G100R	NM_000486	NP_000477	P41181	AQP2_HUMAN			1	388	+			100		G -> R (in ANDI).	Helical; (Potential).		Q9UD68	Missense_Mutation	SNP	ENST00000199280.3	37	c.298G>A	CCDS8792.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583892	0.86748	.	.	ENSG00000167580	ENST00000199280;ENST00000550862	D;T	0.95724	-3.79;0.32	4.67	4.67	0.58626	Aquaporin-like (2);	0.000000	0.56097	D	0.000034	D	0.98836	0.9607	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99113	1.0847	10	0.87932	D	0	-21.7608	15.4708	0.75439	0.0:0.0:1.0:0.0	.	100	P41181	AQP2_HUMAN	R	100	ENSP00000199280:G100R;ENSP00000450022:G100R	ENSP00000199280:G100R	G	+	1	0	AQP2	48631178	1.000000	0.71417	0.645000	0.29479	0.816000	0.46133	9.869000	0.99810	2.323000	0.78572	0.655000	0.94253	GGA		0.647	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405540.1	NM_000486	
NACA	4666	broad.mit.edu	37	12	57108166	57108166	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr12:57108166T>C	ENST00000454682.1	-	5	6084	c.5803A>G	c.(5803-5805)Agt>Ggt	p.S1935G	NACA_ENST00000393891.4_Missense_Mutation_p.S72G|NACA_ENST00000546392.1_Missense_Mutation_p.S72G|NACA_ENST00000551793.1_5'UTR|NACA_ENST00000356769.3_Missense_Mutation_p.S72G|NACA_ENST00000552540.1_Missense_Mutation_p.S72G|NACA_ENST00000550952.1_Missense_Mutation_p.S782G|NACA_ENST00000548563.1_5'UTR	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1935	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.|Required for DNA-binding. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTCTTTTCACTCCGACTCTGT	0.393			T	BCL6	NHL																																	uc001slz.2				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				ovary(1)	1						c.(214-216)AGT>GGT		nascent polypeptide-associated complex alpha							142.0	126.0	131.0					12																	57108166		2203	4300	6503	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57108166T>C	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5803A>G	12.37:g.57108166T>C	ENSP00000403817:p.Ser1935Gly					NACA_uc001sly.2_Missense_Mutation_p.S72G|NACA_uc009zoy.1_Missense_Mutation_p.S1935G|NACA_uc001smc.2_Missense_Mutation_p.S72G|NACA_uc001sma.2_Missense_Mutation_p.S782G|NACA_uc001smb.2_Missense_Mutation_p.S72G|NACA_uc010squ.1_Intron	p.S72G	NM_001113201	NP_001106672	Q13765	NACA_HUMAN			4	563	-			72			Required for DNA-binding (By similarity).|NAC-A/B.			Missense_Mutation	SNP	ENST00000454682.1	37	c.214A>G		.	.	.	.	.	.	.	.	.	.	T	15.84	2.953019	0.53293	.	.	ENSG00000196531	ENST00000550920;ENST00000454682;ENST00000550952;ENST00000356769;ENST00000552540;ENST00000393891;ENST00000546392;ENST00000549259;ENST00000552055;ENST00000549855	T;T;T;T;T;T;T;T;T;T	0.50001	0.91;0.8;0.76;0.91;0.91;0.91;0.91;0.91;0.84;0.87	4.73	4.73	0.59995	Nascent polypeptide-associated complex NAC (1);	0.000000	0.85682	D	0.000000	T	0.41259	0.1151	N	0.12887	0.27	0.53688	D	0.99997	B;B;B	0.32753	0.077;0.383;0.034	B;P;B	0.48598	0.143;0.583;0.01	T	0.29761	-1.0001	10	0.13470	T	0.59	.	13.1877	0.59691	0.0:0.0:0.0:1.0	.	1935;782;72	E9PAV3;F8VU71;Q13765	.;.;NACA_HUMAN	G	70;1935;782;72;72;72;72;72;68;72	ENSP00000448039:S70G;ENSP00000403817:S1935G;ENSP00000448035:S782G;ENSP00000349212:S72G;ENSP00000447821:S72G;ENSP00000377469:S72G;ENSP00000446801:S72G;ENSP00000447133:S72G;ENSP00000450383:S68G;ENSP00000447764:S72G	ENSP00000349212:S72G	S	-	1	0	NACA	55394433	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.972000	0.88022	1.758000	0.51981	0.377000	0.23210	AGT		0.393	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594	
OR4K2	390431	broad.mit.edu	37	14	20345324	20345324	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr14:20345324A>G	ENST00000298642.2	+	1	934	c.898A>G	c.(898-900)Aaa>Gaa	p.K300E		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCCATGAGGAAACTGAAAAA	0.348																																						uc001vwh.1																			0				ovary(2)|skin(2)	4						c.(898-900)AAA>GAA		olfactory receptor, family 4, subfamily K,							71.0	76.0	74.0					14																	20345324		2202	4299	6501	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345324A>G		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.898A>G	14.37:g.20345324A>G	ENSP00000298642:p.Lys300Glu						p.K300E	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	898	+	all_cancers(95;0.00108)		300			Cytoplasmic (Potential).		B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.898A>G	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	16.12	3.031989	0.54790	.	.	ENSG00000165762	ENST00000298642	T	0.40476	1.03	5.16	4.01	0.46588	.	0.119337	0.37623	N	0.002018	T	0.53753	0.1816	L	0.52266	1.64	0.30036	N	0.81305	D	0.76494	0.999	D	0.68353	0.957	T	0.55321	-0.8159	10	0.87932	D	0	.	9.2248	0.37400	0.9136:0.0:0.0864:0.0	.	300	Q8NGD2	OR4K2_HUMAN	E	300	ENSP00000298642:K300E	ENSP00000298642:K300E	K	+	1	0	OR4K2	19415164	0.417000	0.25432	0.990000	0.47175	0.635000	0.38103	4.824000	0.62701	0.973000	0.38340	0.482000	0.46254	AAA		0.348	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1		
TTC5	91875	broad.mit.edu	37	14	20760171	20760171	+	Missense_Mutation	SNP	G	G	A	rs200172808		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr14:20760171G>A	ENST00000258821.3	-	9	1230	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	392					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CGGTGAAGCCGCAGGTTGGGC	0.453																																						uc001vwt.2																			0				ovary(1)	1						c.(1174-1176)CGG>TGG		tetratricopeptide repeat domain 5							81.0	68.0	73.0					14																	20760171		2203	4300	6503	SO:0001583	missense	91875				DNA repair	cytoplasm|nucleus	binding	g.chr14:20760171G>A	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.1174C>T	14.37:g.20760171G>A	ENSP00000258821:p.Arg392Trp					TTC5_uc001vwu.2_Missense_Mutation_p.R249W	p.R392W	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)	9	1231	-	all_cancers(95;0.00092)		392					A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	c.1174C>T	CCDS9546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.86|15.86	2.958835|2.958835	0.53400|0.53400	.|.	.|.	ENSG00000136319|ENSG00000136319	ENST00000423949|ENST00000258821	.|T	.|0.34859	.|1.34	4.85|4.85	3.95|3.95	0.45737|0.45737	.|.	.|0.121033	.|0.56097	.|D	.|0.000040	T|T	0.44414|0.44414	0.1292|0.1292	L|L	0.34521|0.34521	1.04|1.04	0.40822|0.40822	D|D	0.983517|0.983517	.|D	.|0.89917	.|1.0	.|D	.|0.63283	.|0.913	T|T	0.46162|0.46162	-0.9211|-0.9211	5|10	.|0.66056	.|D	.|0.02	.|.	11.952|11.952	0.52961|0.52961	0.0:0.0:0.6869:0.3131|0.0:0.0:0.6869:0.3131	.|.	.|392	.|Q8N0Z6	.|TTC5_HUMAN	V|W	336|392	.|ENSP00000258821:R392W	.|ENSP00000258821:R392W	A|R	-|-	2|1	0|2	TTC5|TTC5	19830011|19830011	0.975000|0.975000	0.34042|0.34042	0.894000|0.894000	0.35097|0.35097	0.464000|0.464000	0.32679|0.32679	3.082000|3.082000	0.50128|0.50128	1.396000|1.396000	0.46663|0.46663	0.650000|0.650000	0.86243|0.86243	GCG|CGG		0.453	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376	
LTB4R2	56413	broad.mit.edu	37	14	24779987	24779987	+	Silent	SNP	C	C	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr14:24779987C>A	ENST00000528054.1	+	1	1827	c.210C>A	c.(208-210)ggC>ggA	p.G70G	LTB4R2_ENST00000543919.1_Silent_p.G39G|CIDEB_ENST00000555817.1_5'Flank|LTB4R_ENST00000396789.4_5'Flank|CIDEB_ENST00000336557.5_5'UTR|CIDEB_ENST00000554411.1_5'Flank|LTB4R2_ENST00000533293.1_Silent_p.G39G|LTB4R_ENST00000345363.3_5'Flank|CIDEB_ENST00000258807.5_5'UTR			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	70					chemotaxis (GO:0006935)|keratinocyte migration (GO:0051546)|negative regulation of adenylate cyclase activity (GO:0007194)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)			endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CTGGCAACGGCTTCGTGGTGT	0.726																																						uc001woq.1																			0					0						c.(208-210)GGC>GGA		leukotriene B4 receptor 2							24.0	26.0	25.0					14																	24779987		2202	4299	6501	SO:0001819	synonymous_variant	56413				chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane		g.chr14:24779987C>A	AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906		"""GPCR / Class A : Leukotriene receptors"""	19260	protein-coding gene	gene with protein product		605773				11006272, 10934229	Standard	NM_001164692		Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.210C>A	14.37:g.24779987C>A						CIDEB_uc001won.2_5'Flank|CIDEB_uc001woo.2_5'UTR|CIDEB_uc001wop.2_5'UTR|LTB4R2_uc010alo.2_Silent_p.G39G|LTB4R2_uc001wor.2_Silent_p.G39G|LTB4R_uc001wos.2_5'Flank|LTB4R_uc010alp.2_5'Flank	p.G70G	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	1	1827	+			70			Helical; Name=1; (Potential).		Q5KU28|Q9NPE5	Silent	SNP	ENST00000528054.1	37	c.210C>A																																																																																					0.726	LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000073194.4		
BAZ1A	11177	broad.mit.edu	37	14	35331298	35331298	+	Missense_Mutation	SNP	C	C	T	rs375235365		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr14:35331298C>T	ENST00000382422.2	-	2	671	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	BAZ1A_ENST00000358716.4_Missense_Mutation_p.R115Q|BAZ1A_ENST00000553853.1_5'UTR|BAZ1A_ENST00000360310.1_Missense_Mutation_p.R115Q			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	115	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC. {ECO:0000255|PROSITE- ProRule:PRU00475}.				chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GACAAAATATCGATCCTTGAC	0.358																																						uc001wsk.2																			0				lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7						c.(343-345)CGA>CAA		bromodomain adjacent to zinc finger domain, 1A		C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	150.0	144.0	146.0		344,344	5.4	1.0	14		146	0,8600		0,0,4300	no	missense,missense	BAZ1A	NM_013448.2,NM_182648.1	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	115/1557,115/1525	35331298	1,13005	2203	4300	6503	SO:0001583	missense	11177				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding	g.chr14:35331298C>T	AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.344G>A	14.37:g.35331298C>T	ENSP00000371859:p.Arg115Gln					BAZ1A_uc001wsl.2_Missense_Mutation_p.R115Q|BAZ1A_uc001wsm.1_Missense_Mutation_p.R115Q	p.R115Q	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)	3	912	-	Breast(36;0.0388)|Hepatocellular(127;0.158)		115			WAC.|Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.		Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	ENST00000382422.2	37	c.344G>A	CCDS9651.1	.	.	.	.	.	.	.	.	.	.	C	34	5.402083	0.96030	2.27E-4	0.0	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310	T;T;T	0.75050	-0.89;-0.9;-0.9	5.4	5.4	0.78164	WSTF/Acf1/Cbp146 (2);	0.000000	0.85682	D	0.000000	D	0.86611	0.5974	M	0.74467	2.265	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.99;0.994	D	0.87554	0.2467	10	0.87932	D	0	.	19.547	0.95302	0.0:1.0:0.0:0.0	.	115;115	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	Q	115	ENSP00000351555:R115Q;ENSP00000371859:R115Q;ENSP00000353458:R115Q	ENSP00000351555:R115Q	R	-	2	0	BAZ1A	34401049	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.403000	0.79983	2.695000	0.91970	0.650000	0.86243	CGA		0.358	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1		
GJD2	57369	broad.mit.edu	37	15	35045056	35045056	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr15:35045056G>A	ENST00000290374.4	-	2	1065	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	197					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		ATGTAGAAGCGGGAGATGCCT	0.483																																						uc001zis.1																			0					0						c.(589-591)CGC>TGC		gap junction protein, delta 2, 36kDa							117.0	123.0	121.0					15																	35045056		2201	4298	6499	SO:0001583	missense	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35045056G>A	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"""Ion channels / Gap junction proteins (connexins)"""	19154	protein-coding gene	gene with protein product	"""connexin 36"""	607058	"""gap junction protein, alpha 9, 36kDa"""	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.589C>T	15.37:g.35045056G>A	ENSP00000290374:p.Arg197Cys					uc001zit.1_5'Flank	p.R197C	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	2	589	-		all_lung(180;9.67e-07)	197			Cytoplasmic (Potential).		Q2M241|Q9P2R0	Missense_Mutation	SNP	ENST00000290374.4	37	c.589C>T	CCDS10040.1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937270	0.52972	.	.	ENSG00000159248	ENST00000290374	D	0.98313	-4.86	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000004	D	0.97807	0.9280	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.65140	0.932	D	0.97087	0.9788	10	0.42905	T	0.14	.	13.9626	0.64191	0.0:0.0:0.7353:0.2647	.	197	Q9UKL4	CXD2_HUMAN	C	197	ENSP00000290374:R197C	ENSP00000290374:R197C	R	-	1	0	GJD2	32832348	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.872000	0.56085	2.890000	0.99128	0.650000	0.86243	CGC		0.483	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2		
BAHD1	22893	broad.mit.edu	37	15	40750942	40750942	+	Silent	SNP	G	G	A	rs202044593		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr15:40750942G>A	ENST00000416165.1	+	2	350	c.279G>A	c.(277-279)ccG>ccA	p.P93P	BAHD1_ENST00000561234.1_Silent_p.P93P|BAHD1_ENST00000560846.1_Silent_p.P93P	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	93					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		ATGAGCTACCGCCTGACCTGC	0.662																																						uc001zlu.2																			0					0						c.(277-279)CCG>CCA		bromo adjacent homology domain containing 1		G		0,4406		0,0,2203	34.0	38.0	37.0		279	-3.6	1.0	15		37	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BAHD1	NM_014952.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		93/781	40750942	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40750942G>A	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.279G>A	15.37:g.40750942G>A						BAHD1_uc001zlt.2_Silent_p.P93P|BAHD1_uc010bbp.1_Silent_p.P93P|BAHD1_uc001zlv.2_Silent_p.P93P	p.P93P	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	2	350	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	93					Q8NDF7|Q9Y2F4	Silent	SNP	ENST00000416165.1	37	c.279G>A	CCDS10058.1																																																																																				0.662	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952	
STRC	161497	broad.mit.edu	37	15	43893602	43893602	+	Missense_Mutation	SNP	T	T	C	rs141809944	byFrequency	TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr15:43893602T>C	ENST00000450892.2	-	24	4770	c.4693A>G	c.(4693-4695)Acc>Gcc	p.T1565A	RNU6-554P_ENST00000410466.1_RNA|STRC_ENST00000541030.1_Missense_Mutation_p.T792A	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1565					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ACCTGAGTGGTGCTCCAGCCA	0.522																																						uc001zsf.2																			0					0						c.(4693-4695)ACC>GCC		stereocilin precursor		A	ALA/THR	1,4399		0,1,2199	107.0	95.0	99.0		4693	3.4	1.0	15	dbSNP_134	99	0,8594		0,0,4297	no	missense	STRC	NM_153700.2	58	0,1,6496	CC,CT,TT		0.0,0.0227,0.0077	benign	1565/1776	43893602	1,12993	2200	4297	6497	SO:0001583	missense	161497				sensory perception of sound	cell surface		g.chr15:43893602T>C	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.4693A>G	15.37:g.43893602T>C	ENSP00000401513:p.Thr1565Ala					STRC_uc010bdl.2_Missense_Mutation_p.T792A|STRC_uc001zse.2_Missense_Mutation_p.T83A	p.T1565A	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	24	4771	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1565						Missense_Mutation	SNP	ENST00000450892.2	37	c.4693A>G	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378888	0.24944	2.27E-4	0.0	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	T;T	0.75821	-0.96;-0.97	4.62	3.41	0.39046	.	0.494669	0.18843	N	0.129635	T	0.50650	0.1628	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.01281	0.0;0.0	T	0.24870	-1.0148	10	0.23891	T	0.37	-3.5383	3.489	0.07630	0.5537:0.0:0.0951:0.3512	.	792;1565	F5GXA4;Q7RTU9	.;STRC_HUMAN	A	1565;1565;792	ENSP00000401513:T1565A;ENSP00000440413:T792A	ENSP00000299992:T1565A	T	-	1	0	STRC	41680894	0.858000	0.29795	0.971000	0.41717	0.180000	0.23129	0.570000	0.23653	0.927000	0.37143	-0.373000	0.07131	ACC		0.522	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700	
SEC14L5	9717	broad.mit.edu	37	16	5058451	5058451	+	Silent	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr16:5058451G>A	ENST00000251170.7	+	14	1782	c.1602G>A	c.(1600-1602)tcG>tcA	p.S534S	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	534	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						AAGGAGAGTCGGTCATCACCT	0.642																																						uc002cye.2																			0					0						c.(1600-1602)TCG>TCA		SEC14-like 5							33.0	39.0	37.0					16																	5058451		2063	4199	6262	SO:0001819	synonymous_variant	9717					integral to membrane|intracellular	transporter activity	g.chr16:5058451G>A	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1602G>A	16.37:g.5058451G>A							p.S534S	NM_014692	NP_055507	O43304	S14L5_HUMAN			14	1782	+			534			GOLD.			Silent	SNP	ENST00000251170.7	37	c.1602G>A	CCDS45403.1																																																																																				0.642	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1		
APPBP2	10513	broad.mit.edu	37	17	58603208	58603208	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr17:58603208G>A	ENST00000083182.3	-	1	372	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	RP11-15E18.1_ENST00000559739.1_RNA|RP11-15E18.1_ENST00000558027.1_RNA	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	29					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			ATGTCTCGGCGGGAGCGGATG	0.592																																						uc002iys.1																			0					0						c.(85-87)CGC>TGC		amyloid beta precursor protein-binding protein							128.0	102.0	110.0					17																	58603208		2203	4300	6503	SO:0001583	missense	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58603208G>A	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.85C>T	17.37:g.58603208G>A	ENSP00000083182:p.Arg29Cys					APPBP2_uc010ddl.1_5'UTR	p.R29C	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		1	373	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		29					A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	ENST00000083182.3	37	c.85C>T	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987321	0.93106	.	.	ENSG00000062725	ENST00000083182	D	0.85258	-1.96	5.05	5.05	0.67936	.	0.051081	0.85682	D	0.000000	D	0.86965	0.6060	N	0.22421	0.69	0.80722	D	1	D	0.63046	0.992	D	0.63877	0.919	D	0.88967	0.3398	10	0.72032	D	0.01	-0.5199	18.3509	0.90338	0.0:0.0:1.0:0.0	.	29	Q92624	APBP2_HUMAN	C	29	ENSP00000083182:R29C	ENSP00000083182:R29C	R	-	1	0	APPBP2	55957990	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.110000	0.71535	2.502000	0.84385	0.591000	0.81541	CGC		0.592	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380	
CD300LD	100131439	broad.mit.edu	37	17	72576247	72576247	+	Missense_Mutation	SNP	G	G	A	rs201880339		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr17:72576247G>A	ENST00000375352.1	-	4	559	c.479C>T	c.(478-480)cCg>cTg	p.P160L		NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	160					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						GCTCTTGAGCGGGGACCTGTG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		17952	0.0		0.001	False		,,,				2504	0.0					uc002jkz.2																			0					0						c.(478-480)CCG>CTG		CD300 molecule-like family member d precursor		G	LEU/PRO	0,3136		0,0,1568	42.0	42.0	42.0		479	-0.4	0.3	17		42	1,7163		0,1,3581	no	missense	CD300LD	NM_001115152.1	98	0,1,5149	AA,AG,GG		0.014,0.0,0.0097	benign	160/195	72576247	1,10299	1568	3582	5150	SO:0001583	missense	100131439					integral to membrane|plasma membrane	receptor activity	g.chr17:72576247G>A		CCDS42379.1	17q25.1	2014-05-15			ENSG00000204345	ENSG00000204345		"""Immunoglobulin superfamily / V-set domain containing"""	16848	protein-coding gene	gene with protein product						22291008	Standard	NM_001115152		Approved	CMRF35A4, CD300D	uc002jkz.2	Q6UXZ3	OTTHUMG00000067614	ENST00000375352.1:c.479C>T	17.37:g.72576247G>A	ENSP00000364501:p.Pro160Leu						p.P160L	NM_001115152	NP_001108624	Q6UXZ3	CLM4_HUMAN			4	508	-			160			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000375352.1	37	c.479C>T	CCDS42379.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	0.015	-1.547783	0.00926	0.0	1.4E-4	ENSG00000204345	ENST00000375352	T	0.03607	3.87	3.36	-0.452	0.12205	.	2.080600	0.03257	N	0.182736	T	0.00998	0.0033	N	0.00313	-1.665	0.20489	N	0.999891	B	0.02656	0.0	B	0.01281	0.0	T	0.43750	-0.9372	10	0.11182	T	0.66	.	0.7501	0.00989	0.472:0.2072:0.1202:0.2006	.	160	Q6UXZ3	CLM4_HUMAN	L	160	ENSP00000364501:P160L	ENSP00000364501:P160L	P	-	2	0	CD300LD	70087842	0.046000	0.20272	0.265000	0.24526	0.001000	0.01503	0.078000	0.14761	-0.104000	0.12154	-1.486000	0.00981	CCG		0.572	CD300LD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145099.1	NM_001115152	
SERPINB7	8710	broad.mit.edu	37	18	61471645	61471645	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr18:61471645C>T	ENST00000398019.2	+	8	1244	c.919C>T	c.(919-921)Ctc>Ttc	p.L307F	SERPINB7_ENST00000540675.1_Missense_Mutation_p.L290F|SERPINB7_ENST00000336429.2_Missense_Mutation_p.L307F|SERPINB7_ENST00000546027.1_Missense_Mutation_p.L307F	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	307					negative regulation of endopeptidase activity (GO:0010951)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of transforming growth factor beta1 production (GO:0032914)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CAAAGCAGATCTCTCTGGGAT	0.433																																						uc002ljl.2																			0				lung(2)|central_nervous_system(1)	3						c.(919-921)CTC>TTC		serine (or cysteine) proteinase inhibitor, clade							47.0	50.0	49.0					18																	61471645		2203	4300	6503	SO:0001583	missense	8710				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61471645C>T	AF027866	CCDS11988.1, CCDS58633.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166396	ENSG00000166396		"""Serine (or cysteine) peptidase inhibitors"""	13902	protein-coding gene	gene with protein product		603357	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 7"""			24172014	Standard	NM_003784		Approved	MEGSIN	uc002ljl.4	O75635	OTTHUMG00000060591	ENST00000398019.2:c.919C>T	18.37:g.61471645C>T	ENSP00000381101:p.Leu307Phe					SERPINB7_uc002ljm.2_Missense_Mutation_p.L307F|SERPINB7_uc010xet.1_Missense_Mutation_p.L290F|SERPINB7_uc010dqg.2_Missense_Mutation_p.L307F	p.L307F	NM_001040147	NP_001035237	O75635	SPB7_HUMAN			8	1015	+		Esophageal squamous(42;0.129)	307					B4DUW8|F5GZC0|Q1ED45|Q3KPG4	Missense_Mutation	SNP	ENST00000398019.2	37	c.919C>T	CCDS11988.1	.	.	.	.	.	.	.	.	.	.	C	8.553	0.875936	0.17395	.	.	ENSG00000166396	ENST00000336429;ENST00000398019;ENST00000540675;ENST00000546027	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	6.11	4.24	0.50183	Serpin domain (3);	0.099214	0.45126	N	0.000392	T	0.76608	0.4011	N	0.26130	0.795	0.40595	D	0.981524	B;B	0.25048	0.096;0.117	B;B	0.31812	0.083;0.136	T	0.65545	-0.6142	10	0.02654	T	1	.	9.3226	0.37973	0.0:0.7439:0.0:0.2561	.	290;307	F5GZC0;O75635	.;SPB7_HUMAN	F	307;307;290;307	ENSP00000337212:L307F;ENSP00000381101:L307F;ENSP00000444572:L290F;ENSP00000444861:L307F	ENSP00000337212:L307F	L	+	1	0	SERPINB7	59622625	0.109000	0.22037	0.985000	0.45067	0.306000	0.27790	0.293000	0.19029	0.814000	0.34374	-0.137000	0.14449	CTC		0.433	SERPINB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134007.1	NM_003784	
ATP9B	374868	broad.mit.edu	37	18	77037059	77037059	+	Missense_Mutation	SNP	G	G	A	rs149013492		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr18:77037059G>A	ENST00000426216.2	+	13	1291	c.1274G>A	c.(1273-1275)cGt>cAt	p.R425H	ATP9B_ENST00000307671.7_Missense_Mutation_p.R425H	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	425					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GGCAGTTTGCGTGTGAACTTG	0.493																																						uc002lmx.2																			0				ovary(3)	3						c.(1273-1275)CGT>CAT		ATPase, class II, type 9B							237.0	222.0	227.0					18																	77037059		2203	4300	6503	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:77037059G>A	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1274G>A	18.37:g.77037059G>A	ENSP00000398076:p.Arg425His					ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Missense_Mutation_p.R425H|ATP9B_uc002lmy.1_RNA|ATP9B_uc002lmz.1_Missense_Mutation_p.R119H	p.R425H	NM_198531	NP_940933	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	13	1288	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	425			Helical; (Potential).		O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.1274G>A	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127085	0.94429	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	D;D	0.88664	-2.41;-2.41	5.4	5.4	0.78164	ATPase, P-type, ATPase-associated domain (1);	0.098980	0.64402	D	0.000011	D	0.96062	0.8717	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96625	0.9462	10	0.87932	D	0	.	19.5384	0.95264	0.0:0.0:1.0:0.0	.	425;425	O43861;O43861-2	ATP9B_HUMAN;.	H	425	ENSP00000398076:R425H;ENSP00000304500:R425H	ENSP00000304500:R425H	R	+	2	0	ATP9B	75138047	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.053000	0.93860	2.687000	0.91594	0.655000	0.94253	CGT		0.493	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531	
S1PR2	9294	broad.mit.edu	37	19	10335447	10335447	+	Silent	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr19:10335447G>A	ENST00000590320.1	-	2	245	c.135C>T	c.(133-135)tgC>tgT	p.C45C	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	45					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CCACAATGGCGCAACAGAGGA	0.567																																					Pancreas(194;229 3020 15179 45747)	uc002mnl.2																			0				lung(1)|central_nervous_system(1)	2						c.(133-135)TGC>TGT		endothelial differentiation, sphingolipid							137.0	130.0	132.0					19																	10335447		2203	4300	6503	SO:0001819	synonymous_variant	9294				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10335447G>A	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3169	protein-coding gene	gene with protein product		605111	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"""	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.135C>T	19.37:g.10335447G>A							p.C45C	NM_004230	NP_004221	O95136	S1PR2_HUMAN			2	246	-			45			Helical; Name=1; (By similarity).		Q86UN8	Silent	SNP	ENST00000590320.1	37	c.135C>T	CCDS12229.1																																																																																				0.567	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230	
CILP2	148113	broad.mit.edu	37	19	19655680	19655680	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr19:19655680C>T	ENST00000291495.5	+	8	2411	c.2326C>T	c.(2326-2328)Cgt>Tgt	p.R776C	CILP2_ENST00000586018.1_Missense_Mutation_p.R782C	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	776						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGCCAACCCCCGTGCCTGGGG	0.711																																						uc002nmv.3																			0				ovary(1)	1						c.(2326-2328)CGT>TGT		cartilage intermediate layer protein 2							8.0	10.0	9.0					19																	19655680		1981	4104	6085	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655680C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2326C>T	19.37:g.19655680C>T	ENSP00000291495:p.Arg776Cys					CILP2_uc002nmw.3_Missense_Mutation_p.R782C	p.R776C	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			8	2411	+			776					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.2326C>T	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510535	0.64522	.	.	ENSG00000160161	ENST00000291495	T	0.18174	2.23	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.37293	0.0998	M	0.65975	2.015	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.973	T	0.12811	-1.0533	10	0.87932	D	0	-22.637	10.8218	0.46610	0.189:0.811:0.0:0.0	.	776;776	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	C	776	ENSP00000291495:R776C	ENSP00000291495:R776C	R	+	1	0	CILP2	19516680	0.406000	0.25344	0.863000	0.33907	0.907000	0.53573	1.005000	0.29834	2.275000	0.75901	0.555000	0.69702	CGT		0.711	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221	
LILRA3	11026	broad.mit.edu	37	19	54803127	54803127	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr19:54803127C>T	ENST00000251390.3	-	4	641	c.550G>A	c.(550-552)Gtg>Atg	p.V184M	LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000391745.1_Missense_Mutation_p.V201M	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	184	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.V184M(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACGGGGCCCACGGAGAAGATG	0.567																																						uc002qfd.2																			1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(550-552)GTG>ATG		leukocyte immunoglobulin-like receptor,							130.0	110.0	117.0					19																	54803127		2195	4163	6358	SO:0001583	missense	11026				defense response	extracellular region|plasma membrane	antigen binding|receptor activity	g.chr19:54803127C>T	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.550G>A	19.37:g.54803127C>T	ENSP00000251390:p.Val184Met					LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Intron	p.V184M	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	615	-	Ovarian(34;0.19)		184			Ig-like C2-type 2.		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.550G>A	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713240	0.30413	.	.	ENSG00000170866	ENST00000251390;ENST00000391745	T;T	0.00792	5.69;5.69	2.21	0.0188	0.14118	Immunoglobulin-like fold (1);	0.499376	0.16837	N	0.197508	T	0.01189	0.0039	L	0.39514	1.22	0.09310	N	1	D	0.65815	0.995	P	0.53518	0.728	T	0.52866	-0.8518	10	0.48119	T	0.1	.	4.2498	0.10689	0.0:0.6373:0.0:0.3627	.	184	Q8N6C8	LIRA3_HUMAN	M	184;201	ENSP00000251390:V184M;ENSP00000375625:V201M	ENSP00000251390:V184M	V	-	1	0	LILRA3	59494939	0.007000	0.16637	0.028000	0.17463	0.014000	0.08584	0.231000	0.17872	0.085000	0.17107	-0.236000	0.12185	GTG		0.567	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1		
NLRP4	147945	broad.mit.edu	37	19	56382302	56382302	+	Missense_Mutation	SNP	G	G	A	rs140263319	byFrequency	TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr19:56382302G>A	ENST00000301295.6	+	7	2886	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	NLRP4_ENST00000346986.5_Missense_Mutation_p.E766K|NLRP4_ENST00000587891.1_Missense_Mutation_p.E747K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	822					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCTGAAGGACGAAGGACTGAA	0.512													G|||	2	0.000399361	0.0	0.0	5008	,	,		20309	0.001		0.0	False		,,,				2504	0.001					uc002qmd.3																			0				ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(2464-2466)GAA>AAA		NLR family, pyrin domain containing 4							142.0	123.0	130.0					19																	56382302		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56382302G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2464G>A	19.37:g.56382302G>A	ENSP00000301295:p.Glu822Lys					NLRP4_uc002qmf.2_Missense_Mutation_p.E747K|NLRP4_uc010etf.2_Missense_Mutation_p.E597K	p.E822K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	7	2886	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	822			LRR 5.		Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2464G>A	CCDS12936.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.620	0.482859	0.12581	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.54675	0.56;2.5	3.75	-2.43	0.06522	.	.	.	.	.	T	0.28995	0.0720	L	0.37850	1.14	0.09310	N	1	B;P;P	0.41366	0.334;0.702;0.747	B;B;B	0.33121	0.038;0.139;0.158	T	0.22800	-1.0206	9	0.14656	T	0.56	.	3.9781	0.09483	0.4742:0.1908:0.335:0.0	.	766;747;822	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	K	822;766	ENSP00000301295:E822K;ENSP00000344787:E766K	ENSP00000301295:E822K	E	+	1	0	NLRP4	61074114	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.652000	0.05366	-0.205000	0.10219	-0.145000	0.13849	GAA		0.512	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
GLI2	2736	broad.mit.edu	37	2	121748070	121748070	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr2:121748070G>T	ENST00000452319.1	+	14	4640	c.4580G>T	c.(4579-4581)gGt>gTt	p.G1527V	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.G1527V					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTGTTCTCGGGTGCTCTGAGC	0.622																																						uc010flp.2																			0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(4579-4581)GGT>GTT		GLI-Kruppel family member GLI2							130.0	143.0	139.0					2																	121748070		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121748070G>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4580G>T	2.37:g.121748070G>T	ENSP00000390436:p.Gly1527Val					GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.G1199V|GLI2_uc002tmu.3_Missense_Mutation_p.G1182V	p.G1527V	NM_005270	NP_005261	P10070	GLI2_HUMAN			13	4610	+	Renal(3;0.0496)	Prostate(154;0.0623)	1527						Missense_Mutation	SNP	ENST00000452319.1	37	c.4580G>T	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.336340	0.81801	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.33865	1.39;1.39	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.64283	0.2584	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.69435	-0.5146	10	0.87932	D	0	.	18.4555	0.90718	0.0:0.0:1.0:0.0	.	1527;1182	P10070;P10070-2	GLI2_HUMAN;.	V	1527	ENSP00000390436:G1527V;ENSP00000354586:G1527V	ENSP00000354586:G1527V	G	+	2	0	GLI2	121464540	1.000000	0.71417	0.643000	0.29450	0.961000	0.63080	7.828000	0.86729	2.581000	0.87130	0.555000	0.69702	GGT		0.622	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270	
RBCK1	10616	broad.mit.edu	37	20	390566	390566	+	Missense_Mutation	SNP	G	G	A	rs546711324		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr20:390566G>A	ENST00000356286.5	+	2	769	c.64G>A	c.(64-66)Ggg>Agg	p.G22R	RBCK1_ENST00000475269.1_Missense_Mutation_p.G22R|RBCK1_ENST00000400245.3_3'UTR|RBCK1_ENST00000353660.3_Intron|RBCK1_ENST00000382181.2_Intron|RBCK1_ENST00000400247.3_Intron	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	22	Interaction with IRF3.|Interaction with TAB2.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				AGTGGCGGGCGGGGATGAACA	0.582													G|||	0	0.0	0.0	0.0	5008	,	,		17196	0.0		0.0	False		,,,				2504	0.0					uc002wdp.3																			0					0						c.(64-66)GGG>AGG		RanBP-type and C3HC4-type zinc finger containing							97.0	98.0	98.0					20																	390566		2203	4300	6503	SO:0001583	missense	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:390566G>A	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.64G>A	20.37:g.390566G>A	ENSP00000348632:p.Gly22Arg					RBCK1_uc010zpl.1_Missense_Mutation_p.G22R|RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Intron|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Intron|RBCK1_uc002wdo.2_RNA	p.G22R	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN			2	757	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	22			Interaction with IRF3.|Interaction with TAB2.		O95623|Q86SL2|Q96BS3|Q9BYM9	Missense_Mutation	SNP	ENST00000356286.5	37	c.64G>A	CCDS13000.2	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875962	0.91664	.	.	ENSG00000125826	ENST00000411647;ENST00000356286;ENST00000475269;ENST00000441733;ENST00000400244;ENST00000400243	T;T;T	0.61510	0.1;1.42;0.15	4.68	4.68	0.58851	.	0.066759	0.64402	D	0.000010	T	0.73377	0.3579	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.91635	0.999;0.786	T	0.74870	-0.3517	10	0.51188	T	0.08	-11.713	15.14	0.72604	0.0:0.0:1.0:0.0	.	12;22	B4E0F5;Q9BYM8	.;HOIL1_HUMAN	R	22;22;22;21;22;22	ENSP00000415080:G22R;ENSP00000348632:G22R;ENSP00000387799:G21R	ENSP00000348632:G22R	G	+	1	0	RBCK1	338566	1.000000	0.71417	0.982000	0.44146	0.957000	0.61999	6.944000	0.75940	2.397000	0.81536	0.563000	0.77884	GGG		0.582	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229	
COL18A1	80781	broad.mit.edu	37	21	46897864	46897864	+	Frame_Shift_Del	DEL	A	A	-			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr21:46897864delA	ENST00000359759.4	+	7	2472	c.2451delA	c.(2449-2451)ggafs	p.G817fs	COL18A1_ENST00000355480.5_Frame_Shift_Del_p.G582fs|COL18A1_ENST00000400337.2_Frame_Shift_Del_p.G402fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	817	Triple-helical region 2 (COL2).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCACCCCTGGAAGGGACGGCG	0.726																																						uc011afs.1																			0				central_nervous_system(1)	1						c.(2449-2451)GGAfs		alpha 1 type XVIII collagen isoform 3 precursor							6.0	8.0	7.0					21																	46897864		1827	3979	5806	SO:0001589	frameshift_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46897864delA		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2451delA	21.37:g.46897864delA	ENSP00000352798:p.Gly817fs					COL18A1_uc002zhg.2_Frame_Shift_Del_p.G402fs|COL18A1_uc002zhi.2_Frame_Shift_Del_p.G582fs	p.G817fs	NM_130444	NP_569711	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	7	2472	+			817			Triple-helical region 2 (COL2).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Frame_Shift_Del	DEL	ENST00000359759.4	37	c.2451delA																																																																																					0.726	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1		
SEMA3G	56920	broad.mit.edu	37	3	52475334	52475334	+	Silent	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr3:52475334C>T	ENST00000231721.2	-	7	758	c.759G>A	c.(757-759)tcG>tcA	p.S253S		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	253	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CACCATCGGGCGAGGGGACCG	0.617																																						uc003dea.1																			0				ovary(2)	2						c.(757-759)TCG>TCA		semaphorin sem2 precursor							81.0	58.0	66.0					3																	52475334		2203	4300	6503	SO:0001819	synonymous_variant	56920				multicellular organismal development	extracellular region|membrane	receptor activity	g.chr3:52475334C>T		CCDS2856.1	3p21.1	2013-01-11			ENSG00000010319	ENSG00000010319		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30400	protein-coding gene	gene with protein product						11214971	Standard	XM_005265327		Approved	FLJ00014, sem2	uc003dea.1	Q9NS98	OTTHUMG00000158570	ENST00000231721.2:c.759G>A	3.37:g.52475334C>T							p.S253S	NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)	7	759	-			253			Sema.		Q7L9D9|Q9H7Q3	Silent	SNP	ENST00000231721.2	37	c.759G>A	CCDS2856.1																																																																																				0.617	SEMA3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351354.1	NM_020163	
UGT2B4	7363	broad.mit.edu	37	4	70346533	70346533	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr4:70346533C>T	ENST00000305107.6	-	6	1452	c.1406G>A	c.(1405-1407)cGc>cAc	p.R469H	UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Missense_Mutation_p.R333H|AC108078.1_ENST00000583573.1_RNA	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	469					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	TCCTTTATGGCGCATGACAAA	0.473																																						uc003hek.3																			0				skin(2)	2						c.(1405-1407)CGC>CAC		UDP glucuronosyltransferase 2B4 precursor							133.0	129.0	130.0					4																	70346533		2203	4300	6503	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70346533C>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.1406G>A	4.37:g.70346533C>T	ENSP00000305221:p.Arg469His					UGT2B4_uc011cap.1_Missense_Mutation_p.R333H|UGT2B4_uc003hel.3_3'UTR	p.R469H	NM_021139	NP_066962	P06133	UD2B4_HUMAN			6	1453	-			469					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.1406G>A	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.088395	0.36855	.	.	ENSG00000156096	ENST00000305107;ENST00000381096	T;T	0.72725	-0.68;-0.68	2.11	2.11	0.27256	.	0.000000	0.64402	U	0.000003	T	0.69169	0.3081	M	0.73962	2.25	0.30230	N	0.795972	B;B	0.30439	0.157;0.279	B;B	0.34931	0.192;0.159	T	0.72047	-0.4408	10	0.62326	D	0.03	.	10.2729	0.43493	0.0:1.0:0.0:0.0	.	333;469	A6NCP7;P06133	.;UD2B4_HUMAN	H	469;333	ENSP00000305221:R469H;ENSP00000370486:R333H	ENSP00000305221:R469H	R	-	2	0	UGT2B4	70381122	0.812000	0.29077	0.993000	0.49108	0.376000	0.30014	2.081000	0.41596	1.508000	0.48769	0.305000	0.20034	CGC		0.473	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139	
NPR3	4883	broad.mit.edu	37	5	32774858	32774858	+	Silent	SNP	C	C	T	rs140897654	byFrequency	TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr5:32774858C>T	ENST00000265074.8	+	4	1447	c.1104C>T	c.(1102-1104)taC>taT	p.Y368Y	NPR3_ENST00000415685.2_Silent_p.Y152Y|NPR3_ENST00000434067.2_Silent_p.Y152Y|NPR3_ENST00000415167.2_Silent_p.Y368Y	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	368					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.Y368Y(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TCCTCCTCTACGTCTTGGCTC	0.443													C|||	13	0.00259585	0.0091	0.0014	5008	,	,		21330	0.0		0.0	False		,,,				2504	0.0					uc003jhv.2																			1	Substitution - coding silent(1)		prostate(1)	ovary(1)|central_nervous_system(1)	2						c.(1102-1104)TAC>TAT		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)	C	,,	17,3783		0,17,1883	214.0	201.0	205.0		1104,1104,456	-5.4	0.8	5	dbSNP_134	205	0,8232		0,0,4116	no	coding-synonymous,coding-synonymous,coding-synonymous	NPR3	NM_000908.3,NM_001204375.1,NM_001204376.1	,,	0,17,5999	TT,TC,CC		0.0,0.4474,0.1413	,,	368/541,368/542,152/325	32774858	17,12015	1900	4116	6016	SO:0001819	synonymous_variant	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32774858C>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1104C>T	5.37:g.32774858C>T						NPR3_uc010iuo.2_Silent_p.Y152Y|NPR3_uc011cnz.1_Silent_p.Y152Y|NPR3_uc003jhu.2_Silent_p.Y368Y	p.Y368Y	NM_000908	NP_000899	P17342	ANPRC_HUMAN			4	1322	+			368			Extracellular (Potential).		A2RRD1|B4DT84|E7EPG9	Silent	SNP	ENST00000265074.8	37	c.1104C>T	CCDS56357.1																																																																																				0.443	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908	
STK32A	202374	broad.mit.edu	37	5	146750222	146750222	+	Silent	SNP	G	G	A	rs368677802		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr5:146750222G>A	ENST00000397936.3	+	9	999	c.666G>A	c.(664-666)ccG>ccA	p.P222P	STK32A_ENST00000398523.3_Silent_p.P222P	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	222	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAGAGACCGTATCATATTC	0.378																																						uc010jgn.1																			0				lung(2)|skin(1)	3						c.(664-666)CCG>CCA		serine/threonine kinase 32A isoform 1		A		2,3134		0,2,1566	161.0	139.0	146.0		666	1.8	1.0	5		146	0,7164		0,0,3582	no	coding-synonymous	STK32A	NM_001112724.1		0,2,5148	AA,AG,GG		0.0,0.0638,0.0194		222/397	146750222	2,10298	1568	3582	5150	SO:0001819	synonymous_variant	202374						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr5:146750222G>A		CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.666G>A	5.37:g.146750222G>A						STK32A_uc003lom.2_Silent_p.P222P|STK32A_uc011dbw.1_Silent_p.P222P	p.P222P	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		9	946	+			222			Protein kinase.		B3KSY0	Silent	SNP	ENST00000397936.3	37	c.666G>A	CCDS47299.1																																																																																				0.378	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	NM_145001	
ABLIM3	22885	broad.mit.edu	37	5	148619445	148619445	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr5:148619445C>T	ENST00000506113.1	+	12	1680	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R338C|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R400C|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R338C|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R338C|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R400C|ABLIM3_ENST00000519549.1_3'UTR|RP11-331K21.1_ENST00000522685.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	400					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|cilium assembly (GO:0042384)|lamellipodium assembly (GO:0030032)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTACTACCGCTCTGGTAA	0.647																																						uc003lpy.2																			0				ovary(2)|skin(1)	3						c.(1198-1200)CGC>TGC		actin binding LIM protein family, member 3							68.0	65.0	66.0					5																	148619445		2203	4300	6503	SO:0001583	missense	22885				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding	g.chr5:148619445C>T	AB020650	CCDS4294.1	5q33.1	2008-02-05			ENSG00000173210	ENSG00000173210			29132	protein-coding gene	gene with protein product		611305					Standard	XM_005268392		Approved	KIAA0843	uc003lpy.2	O94929	OTTHUMG00000129932	ENST00000506113.1:c.1198C>T	5.37:g.148619445C>T	ENSP00000425394:p.Arg400Cys					ABLIM3_uc003lpz.1_Missense_Mutation_p.R400C|ABLIM3_uc003lqa.1_Missense_Mutation_p.R346C|ABLIM3_uc003lqb.2_Missense_Mutation_p.R338C|ABLIM3_uc003lqc.1_Missense_Mutation_p.R400C|ABLIM3_uc003lqd.1_Missense_Mutation_p.R338C|ABLIM3_uc003lqf.2_Missense_Mutation_p.R338C|ABLIM3_uc003lqe.1_Missense_Mutation_p.R338C	p.R400C	NM_014945	NP_055760	O94929	ABLM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1449	+			400					A8K121|Q19VH3|Q658S1|Q68CI5|Q9BV32	Missense_Mutation	SNP	ENST00000506113.1	37	c.1198C>T	CCDS4294.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068155	0.76301	.	.	ENSG00000173210	ENST00000326685;ENST00000356541;ENST00000309868;ENST00000506113;ENST00000504238;ENST00000508983	T;T;T;T;T;T	0.54479	0.57;1.44;0.57;0.57;1.44;0.57	5.0	5.0	0.66597	.	0.433417	0.26816	N	0.022350	T	0.64746	0.2626	L	0.46157	1.445	0.54753	D	0.999988	D;D;D	0.89917	1.0;0.999;0.98	D;P;B	0.81914	0.995;0.736;0.35	T	0.63928	-0.6526	10	0.49607	T	0.09	.	13.4466	0.61144	0.1566:0.8434:0.0:0.0	.	338;338;400	O94929-3;O94929-2;O94929	.;.;ABLM3_HUMAN	C	338;338;400;400;338;400	ENSP00000315841:R338C;ENSP00000348938:R338C;ENSP00000310309:R400C;ENSP00000425394:R400C;ENSP00000421183:R338C;ENSP00000420855:R400C	ENSP00000310309:R400C	R	+	1	0	ABLIM3	148599638	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.431000	0.44775	2.598000	0.87819	0.462000	0.41574	CGC		0.647	ABLIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373435.1	NM_014945	
Unknown	0	broad.mit.edu	37	6	29855999	29855999	+	IGR	SNP	G	G	A	rs78277628	byFrequency	TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr6:29855999G>A								HLA-G (57097 upstream) : HLA-A (53037 downstream)																							CAGAGCGAGGGCGGTGAGTGA	0.667																																						uc010jro.2																			0					0						c.(235-237)GGC>GAC		SubName: Full=cDNA FLJ52667, highly similar to HLA class I histocompatibility antigen, alpha chain H;																																				SO:0001628	intergenic_variant	3136							g.chr6:29855999G>A																													6.37:g.29855999G>A						HLA-G_uc011dmb.1_Intron|HLA-H_uc003nod.2_RNA	p.G79D							2	288	+									Missense_Mutation	SNP		37	c.236G>A																																																																																				0	0.667								
MYO6	4646	broad.mit.edu	37	6	76566831	76566834	+	Frame_Shift_Del	DEL	AGCA	AGCA	-	rs575443817		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr6:76566831_76566834delAGCA	ENST00000369977.3	+	13	1380_1383	c.1241_1244delAGCA	c.(1240-1245)gagcaafs	p.EQ414fs	MYO6_ENST00000369985.4_Frame_Shift_Del_p.EQ414fs|MYO6_ENST00000369981.3_Frame_Shift_Del_p.EQ414fs|MYO6_ENST00000369975.1_Frame_Shift_Del_p.EQ414fs	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	414	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CTGAAAGTGGAGCAAGCAAACAAT	0.377																																						uc003pih.1																			0				kidney(1)|pancreas(1)	2						c.(1240-1245)GAGCAAfs		myosin VI																																				SO:0001589	frameshift_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76566831_76566834delAGCA	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.1241_1244delAGCA	6.37:g.76566835_76566838delAGCA	ENSP00000358994:p.Glu414fs					MYO6_uc003pig.1_Frame_Shift_Del_p.E414fs|MYO6_uc003pii.1_Frame_Shift_Del_p.E414fs	p.E414fs	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	13	1520_1523	+		all_hematologic(105;0.189)	414_415			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Frame_Shift_Del	DEL	ENST00000369977.3	37	c.1241_1244delAGCA	CCDS34487.1																																																																																				0.377	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999	
PKD1L1	168507	broad.mit.edu	37	7	47869692	47869692	+	Silent	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:47869692C>T	ENST00000289672.2	-	43	6554	c.6504G>A	c.(6502-6504)ctG>ctA	p.L2168L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2168					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGCAGGTGCAGCCACTGCA	0.577																																						uc003tny.1																			0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(6502-6504)CTG>CTA		polycystin-1L1							68.0	58.0	62.0					7																	47869692		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47869692C>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.6504G>A	7.37:g.47869692C>T						C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_5'Flank	p.L2168L	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			43	6504	-			2168			Extracellular (Potential).		Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.6504G>A	CCDS34633.1																																																																																				0.577	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
ZP3	7784	broad.mit.edu	37	7	76054396	76054396	+	Missense_Mutation	SNP	G	G	A	rs370377360		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:76054396G>A	ENST00000394857.3	+	1	173	c.115G>A	c.(115-117)Gta>Ata	p.V39I	ZP3_ENST00000336517.4_5'UTR	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	39					binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						TGAGACGTCCGTACAGCCCGT	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21085	0.0		0.0	False		,,,				2504	0.0					uc003ufd.3																			0					0						c.(115-117)GTA>ATA		zona pellucida glycoprotein 3 isoform 1		G	ILE/VAL,	1,4405		0,1,2202	38.0	32.0	34.0		115,	-7.2	0.0	7		34	0,8600		0,0,4300	no	missense,utr-5	ZP3	NM_001110354.1,NM_007155.5	29,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,	39/425,	76054396	1,13005	2203	4300	6503	SO:0001583	missense	7784				binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding	g.chr7:76054396G>A	M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"""Zona pellucida glycoproteins"""	13189	protein-coding gene	gene with protein product		182889	"""zona pellucida glycoprotein 3A (sperm receptor)"""	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.115G>A	7.37:g.76054396G>A	ENSP00000378326:p.Val39Ile					ZP3_uc003ufc.3_5'UTR	p.V39I	NM_001110354	NP_001103824	P21754	ZP3_HUMAN			1	125	+			39			Extracellular (Potential).		Q06633|Q29RW0	Missense_Mutation	SNP	ENST00000394857.3	37	c.115G>A	CCDS47618.1	.	.	.	.	.	.	.	.	.	.	G	8.129	0.782666	0.16189	2.27E-4	0.0	ENSG00000188372	ENST00000394857;ENST00000544121	T	0.12147	2.71	3.58	-7.15	0.01521	.	7.331800	0.00824	U	0.001610	T	0.07234	0.0183	L	0.29908	0.895	0.09310	N	1	B	0.29909	0.261	B	0.15870	0.014	T	0.15263	-1.0443	10	0.37606	T	0.19	2.4138	1.9813	0.03427	0.2872:0.35:0.2463:0.1166	.	39	P21754	ZP3_HUMAN	I	39	ENSP00000378326:V39I	ENSP00000378326:V39I	V	+	1	0	ZP3	75892332	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.784000	0.01769	-1.440000	0.01960	-1.815000	0.00603	GTA		0.592	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253004.1		
RBM28	55131	broad.mit.edu	37	7	127954955	127954956	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:127954955_127954956GG>TT	ENST00000223073.2	-	17	2020_2021	c.1906_1907CC>AA	c.(1906-1908)CCa>AAa	p.P636K	RBM28_ENST00000481788.1_5'UTR|RBM28_ENST00000415472.2_Missense_Mutation_p.P495K	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	636					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTTCTGCTCTGGGGGCACCTTG	0.564																																						uc003vmp.2																			0				ovary(2)	2						c.(1906-1908)CCA>AAA		RNA binding motif protein 28																																				SO:0001583	missense	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127954955_127954956GG>TT	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1906_1907delinsTT	7.37:g.127954955_127954956delinsTT	ENSP00000223073:p.Pro636Lys					RBM28_uc003vmo.2_Missense_Mutation_p.P178K|RBM28_uc011koj.1_Missense_Mutation_p.P495K	p.P636K	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN			17	2021_2022	-			636					A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	DNP	ENST00000223073.2	37	c.1906_1907CC>AA	CCDS5801.1																																																																																				0.564	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077	
KMT2C	58508	broad.mit.edu	37	7	151945253	151945253	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:151945253C>T	ENST00000262189.6	-	14	2484	c.2266G>A	c.(2266-2268)Gga>Aga	p.G756R	KMT2C_ENST00000355193.2_Missense_Mutation_p.G756R	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	756					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GATTTGCCTCCTTGGTATGAA	0.393																																						uc003wla.2										N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2266-2268)GGA>AGA		myeloid/lymphoid or mixed-lineage leukemia 3							106.0	98.0	101.0					7																	151945253		2203	4296	6499	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151945253C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2266G>A	7.37:g.151945253C>T	ENSP00000262189:p.Gly756Arg						p.G756R	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	14	2485	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	756					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2266G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	4.783	0.145668	0.09134	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.82893	-1.66;-1.66	5.24	5.24	0.73138	.	0.402362	0.17894	N	0.158405	T	0.72334	0.3447	N	0.24115	0.695	0.46396	D	0.999027	B	0.11235	0.004	B	0.08055	0.003	T	0.65772	-0.6087	10	0.19590	T	0.45	.	14.1041	0.65078	0.0:0.9254:0.0:0.0746	.	756	Q8NEZ4	MLL3_HUMAN	R	756	ENSP00000262189:G756R;ENSP00000347325:G756R	ENSP00000262189:G756R	G	-	1	0	MLL3	151576186	0.070000	0.21116	0.013000	0.15412	0.227000	0.25037	3.643000	0.54374	2.416000	0.81992	0.650000	0.86243	GGA		0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
PTPRN2	5799	broad.mit.edu	37	7	157985120	157985120	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:157985120C>T	ENST00000389418.4	-	5	457	c.448G>A	c.(448-450)Gcc>Acc	p.A150T	PTPRN2_ENST00000389413.3_Missense_Mutation_p.A150T|PTPRN2_ENST00000389416.4_Missense_Mutation_p.A133T|PTPRN2_ENST00000404321.2_Missense_Mutation_p.A173T|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A112T	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	150					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CGTCGGAGGGCGTTGGCCAGG	0.652																																						uc003wno.2																			0				ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(448-450)GCC>ACC		protein tyrosine phosphatase, receptor type, N							49.0	58.0	55.0					7																	157985120		2202	4300	6502	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157985120C>T	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.448G>A	7.37:g.157985120C>T	ENSP00000374069:p.Ala150Thr					PTPRN2_uc003wnp.2_Missense_Mutation_p.A133T|PTPRN2_uc003wnq.2_Missense_Mutation_p.A150T|PTPRN2_uc003wnr.2_Missense_Mutation_p.A112T|PTPRN2_uc011kwa.1_Missense_Mutation_p.A173T	p.A150T	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	5	569	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	150			Extracellular (Potential).		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.448G>A	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.081417	0.00371	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.02709	4.21;4.21;4.2;4.2;4.19	4.17	-0.898	0.10550	.	0.660669	0.11888	N	0.519865	T	0.01254	0.0041	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B	0.22983	0.078;0.047;0.078;0.047;0.047	B;B;B;B;B	0.17979	0.02;0.003;0.007;0.003;0.003	T	0.49184	-0.8966	10	0.24483	T	0.36	.	8.5126	0.33226	0.0:0.2057:0.0:0.7943	.	173;112;150;133;150	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	T	112;150;133;150;173	ENSP00000387114:A112T;ENSP00000374064:A150T;ENSP00000374067:A133T;ENSP00000374069:A150T;ENSP00000385464:A173T	ENSP00000374064:A150T	A	-	1	0	PTPRN2	157677881	0.010000	0.17322	0.003000	0.11579	0.002000	0.02628	-0.477000	0.06583	-0.241000	0.09681	-0.229000	0.12294	GCC		0.652	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1		
VPS13B	157680	broad.mit.edu	37	8	100821739	100821739	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr8:100821739T>C	ENST00000358544.2	+	44	8264	c.8153T>C	c.(8152-8154)cTc>cCc	p.L2718P	VPS13B_ENST00000357162.2_Missense_Mutation_p.L2693P|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2718					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTTCAGCAACTCAATGGAGTA	0.383																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(8152-8154)CTC>CCC		vacuolar protein sorting 13B isoform 5							99.0	98.0	98.0					8																	100821739		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100821739T>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8153T>C	8.37:g.100821739T>C	ENSP00000351346:p.Leu2718Pro					VPS13B_uc003yiw.2_Missense_Mutation_p.L2693P	p.L2718P	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		44	8264	+	Breast(36;3.73e-07)		2718					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.8153T>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705668	0.68615	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.75704	-0.95;-0.96	5.33	5.33	0.75918	.	0.305249	0.31589	N	0.007392	T	0.81763	0.4891	L	0.58101	1.795	0.80722	D	1	P;D	0.52996	0.946;0.957	P;P	0.58721	0.714;0.844	D	0.83977	0.0330	10	0.87932	D	0	.	15.5919	0.76537	0.0:0.0:0.0:1.0	.	2693;2718	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	P	2693;2718	ENSP00000349685:L2693P;ENSP00000351346:L2718P	ENSP00000349685:L2693P	L	+	2	0	VPS13B	100890915	1.000000	0.71417	0.985000	0.45067	0.993000	0.82548	7.761000	0.85260	2.148000	0.66965	0.523000	0.50628	CTC		0.383	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
PRUNE2	158471	broad.mit.edu	37	9	79324782	79324782	+	Missense_Mutation	SNP	A	A	T			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr9:79324782A>T	ENST00000376718.3	-	8	2531	c.2408T>A	c.(2407-2409)tTt>tAt	p.F803Y	PRUNE2_ENST00000428286.1_Missense_Mutation_p.F444Y	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	803					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTCTTTACCAAATGCACTCCA	0.517																																						uc010mpk.2																			0					0						c.(2407-2409)TTT>TAT		prune homolog 2							42.0	39.0	40.0					9																	79324782		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79324782A>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.2408T>A	9.37:g.79324782A>T	ENSP00000365908:p.Phe803Tyr						p.F803Y	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	2532	-			803					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.2408T>A	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.205418	0.39003	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.22336	1.96;1.96	5.71	5.71	0.89125	.	0.133222	0.34853	N	0.003636	T	0.33265	0.0857	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	P	0.62491	0.903	T	0.05869	-1.0859	10	0.87932	D	0	-12.1252	14.5522	0.68075	1.0:0.0:0.0:0.0	.	803	Q8WUY3	PRUN2_HUMAN	Y	803;444;802	ENSP00000365908:F803Y;ENSP00000397425:F444Y	ENSP00000365908:F803Y	F	-	2	0	PRUNE2	78514602	0.946000	0.32159	0.997000	0.53966	0.075000	0.17131	4.253000	0.58791	2.179000	0.69175	0.379000	0.24179	TTT		0.517	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
SVEP1	79987	broad.mit.edu	37	9	113171158	113171158	+	Missense_Mutation	SNP	G	G	A	rs373881233		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr9:113171158G>A	ENST00000401783.2	-	38	7058	c.6722C>T	c.(6721-6723)cCt>cTt	p.P2241L	SVEP1_ENST00000297826.5_Missense_Mutation_p.P167L|SVEP1_ENST00000374469.1_Missense_Mutation_p.P2218L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2241	Sushi 14. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GACAAATACAGGACTTCCGAC	0.507																																						uc010mtz.2																			0				ovary(7)	7						c.(6721-6723)CCT>CTT		polydom							130.0	134.0	133.0					9																	113171158		2033	4202	6235	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113171158G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.6722C>T	9.37:g.113171158G>A	ENSP00000384917:p.Pro2241Leu					SVEP1_uc010mty.2_Missense_Mutation_p.P167L	p.P2241L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			38	7059	-			2241			Sushi 14.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.6722C>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	6.212	0.407249	0.11754	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.64260	-0.09;-0.09;-0.09	5.95	4.14	0.48551	Complement control module (2);Sushi/SCR/CCP (3);	0.209785	0.51477	N	0.000100	T	0.54727	0.1876	M	0.63169	1.94	0.80722	D	1	B	0.09022	0.002	B	0.15870	0.014	T	0.48692	-0.9013	10	0.29301	T	0.29	.	7.4484	0.27223	0.1365:0.0:0.7282:0.1353	.	2241	Q4LDE5	SVEP1_HUMAN	L	2241;2218;167	ENSP00000384917:P2241L;ENSP00000363593:P2218L;ENSP00000297826:P167L	ENSP00000297826:P167L	P	-	2	0	SVEP1	112210979	1.000000	0.71417	0.998000	0.56505	0.406000	0.30931	3.836000	0.55813	0.866000	0.35629	-0.137000	0.14449	CCT		0.507	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
C9orf84	158401	broad.mit.edu	37	9	114475419	114475419	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr9:114475419C>G	ENST00000318737.4	-	16	2385	c.2257G>C	c.(2257-2259)Gaa>Caa	p.E753Q	C9orf84_ENST00000394779.3_Missense_Mutation_p.E714Q|C9orf84_ENST00000394777.4_Missense_Mutation_p.E679Q|C9orf84_ENST00000374287.3_Missense_Mutation_p.E753Q	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	753										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAATGTTTTTCACCGTCTGAG	0.259																																						uc004bfr.2																			0				ovary(2)	2						c.(2257-2259)GAA>CAA		hypothetical protein LOC158401 isoform 1							26.0	27.0	27.0					9																	114475419		2191	4261	6452	SO:0001583	missense	158401							g.chr9:114475419C>G	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.2257G>C	9.37:g.114475419C>G	ENSP00000322108:p.Glu753Gln					C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Missense_Mutation_p.E714Q|C9orf84_uc010mug.2_Missense_Mutation_p.E664Q	p.E753Q	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN			16	2392	-			753					A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	37	c.2257G>C	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165832	0.78339	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.06371	3.31;3.38;3.32;3.32	5.53	5.53	0.82687	.	0.111728	0.40385	N	0.001110	T	0.17746	0.0426	L	0.34521	1.04	0.32213	N	0.576265	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.984;0.996;0.984	T	0.00984	-1.1491	10	0.56958	D	0.05	-10.9449	18.2336	0.89942	0.0:1.0:0.0:0.0	.	679;753;714	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	Q	714;679;367;753;753	ENSP00000378259:E714Q;ENSP00000378257:E679Q;ENSP00000363405:E753Q;ENSP00000322108:E753Q	ENSP00000322108:E753Q	E	-	1	0	C9orf84	113515240	0.997000	0.39634	0.998000	0.56505	0.990000	0.78478	4.600000	0.61083	2.588000	0.87417	0.650000	0.86243	GAA		0.259	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521	
PAPPA	5069	broad.mit.edu	37	9	118982397	118982397	+	Silent	SNP	T	T	C			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr9:118982397T>C	ENST00000328252.3	+	5	2469	c.2100T>C	c.(2098-2100)caT>caC	p.H700H	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	700					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TAGATGGCCATTTCTTTGAAA	0.547																																						uc004bjn.2																			0				ovary(4)|skin(4)|pancreas(1)	9						c.(2098-2100)CAT>CAC		pregnancy-associated plasma protein A							151.0	137.0	141.0					9																	118982397		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118982397T>C		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2100T>C	9.37:g.118982397T>C						PAPPA_uc011lxp.1_Silent_p.H395H|PAPPA_uc011lxq.1_Intron	p.H700H	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			5	2481	+			700					B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.2100T>C	CCDS6813.1																																																																																				0.547	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	
FAM47C	442444	broad.mit.edu	37	X	37027712	37027712	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chrX:37027712G>A	ENST00000358047.3	+	1	1281	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	410								p.R410L(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCAAGACTCGCATATCTAAT	0.607																																						uc004ddl.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1228-1230)CGC>CAC		hypothetical protein LOC442444							54.0	55.0	54.0					X																	37027712		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027712G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1229G>A	X.37:g.37027712G>A	ENSP00000367913:p.Arg410His						p.R410H	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1243	+			410					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1229G>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	g	7.442	0.640914	0.14386	.	.	ENSG00000198173	ENST00000358047	T	0.16196	2.36	0.53	-1.06	0.10002	.	.	.	.	.	T	0.23451	0.0567	L	0.36672	1.1	0.09310	N	1	D	0.89917	1.0	D	0.74348	0.983	T	0.15694	-1.0428	9	0.44086	T	0.13	.	3.6538	0.08213	0.2398:0.5076:0.2526:0.0	.	410	Q5HY64	FA47C_HUMAN	H	410	ENSP00000367913:R410H	ENSP00000367913:R410H	R	+	2	0	FAM47C	36937633	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.908000	0.04063	-1.346000	0.02211	-1.101000	0.02118	CGC		0.607	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
DDX3X	1654	broad.mit.edu	37	X	41206682	41206683	+	In_Frame_Ins	INS	-	-	AGC			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chrX:41206682_41206683insAGC	ENST00000399959.2	+	16	2742_2743	c.1887_1888insAGC	c.(1888-1890)agc>AGCagc	p.630_630S>SS	DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_In_Frame_Ins_p.614_614S>SS|DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	630	Gly/Ser-rich.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						gtggccacggtagcagcagAGG	0.505										HNSCC(61;0.18)																												uc004dfe.2																			0				ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(1885-1890)insAGC		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3																																				SO:0001652	inframe_insertion	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41206682_41206683insAGC	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1891_1893dupAGC	X.37:g.41206686_41206688dupAGC	ENSP00000382840:p.Ser631dup	HNSCC(61;0.18)				DDX3X_uc004dff.2_In_Frame_Ins_p.630_631insS|DDX3X_uc011mkq.1_In_Frame_Ins_p.615_616insS|DDX3X_uc011mkr.1_In_Frame_Ins_p.501_502insS|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA	p.631_632insS	NM_001356	NP_001347	O00571	DDX3X_HUMAN			16	2742_2743	+			631_632			Gly/Ser-rich.		A8K538|B4E3E8|O15536	In_Frame_Ins	INS	ENST00000399959.2	37	c.1887_1888insAGC	CCDS43931.1																																																																																				0.505	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005	
STAG2	10735	broad.mit.edu	37	X	123197784	123197784	+	Nonsense_Mutation	SNP	C	C	G			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chrX:123197784C>G	ENST00000371160.1	+	20	2198	c.1908C>G	c.(1906-1908)taC>taG	p.Y636*	STAG2_ENST00000371145.3_Nonsense_Mutation_p.Y636*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Y636*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Y636*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.Y567*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Y636*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	636					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTAAAACTTACCATGCACTCT	0.363																																						uc004etz.3																			0				ovary(4)|skin(1)	5						c.(1906-1908)TAC>TAG		stromal antigen 2 isoform b							91.0	77.0	82.0					X																	123197784		2203	4300	6503	SO:0001587	stop_gained	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123197784C>G	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1908C>G	X.37:g.123197784C>G	ENSP00000360202:p.Tyr636*					STAG2_uc004eua.2_Nonsense_Mutation_p.Y636*|STAG2_uc004eub.2_Nonsense_Mutation_p.Y636*|STAG2_uc004euc.2_Nonsense_Mutation_p.Y636*|STAG2_uc004eud.2_Nonsense_Mutation_p.Y636*|STAG2_uc004eue.2_Nonsense_Mutation_p.Y636*	p.Y636*	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			19	2247	+			636					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	37	c.1908C>G	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	38	6.870910	0.97901	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.19	-3.45	0.04781	.	0.063287	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-11.221	14.4417	0.67323	0.0:0.8136:0.0:0.1864	.	.	.	.	X	636;567;636;636;636;636	.	ENSP00000218089:Y636X	Y	+	3	2	STAG2	123025465	0.865000	0.29922	0.964000	0.40570	0.997000	0.91878	0.040000	0.13905	-0.784000	0.04528	0.544000	0.68410	TAC		0.363	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	
FRMD7	90167	broad.mit.edu	37	X	131216403	131216403	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chrX:131216403C>A	ENST00000298542.4	-	9	1068	c.893G>T	c.(892-894)aGt>aTt	p.S298I	FRMD7_ENST00000370879.1_Missense_Mutation_p.S178I|FRMD7_ENST00000464296.1_Missense_Mutation_p.S283I	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	298					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ATAGCGGAAACTGGAACCCTT	0.448																																						uc004ewn.2																			0				skin(1)	1						c.(892-894)AGT>ATT		FERM domain containing 7							297.0	291.0	293.0					X																	131216403		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131216403C>A	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.893G>T	X.37:g.131216403C>A	ENSP00000298542:p.Ser298Ile					FRMD7_uc011muy.1_Missense_Mutation_p.S283I	p.S298I	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			9	1071	-	Acute lymphoblastic leukemia(192;0.000127)		298					C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.893G>T	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571251	0.65765	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.87729	-2.29;-2.29;-2.29	5.39	5.39	0.77823	FERM adjacent (FA) (1);	0.094087	0.64402	D	0.000001	D	0.92446	0.7602	M	0.78049	2.395	0.47407	D	0.999412	D;D	0.89917	0.999;1.0	D;D	0.77557	0.974;0.99	D	0.92842	0.6289	10	0.72032	D	0.01	.	10.9329	0.47228	0.0:0.9124:0.0:0.0876	.	283;298	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	I	178;298;283	ENSP00000359916:S178I;ENSP00000298542:S298I;ENSP00000417996:S283I	ENSP00000298542:S298I	S	-	2	0	FRMD7	131044084	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.226000	0.51254	2.392000	0.81423	0.600000	0.82982	AGT		0.448	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277	
