#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
AADACL4	343066	broad.mit.edu	37	1	12726525	12726525	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:12726525C>G	ENST00000376221.1	+	4	1003	c.1003C>G	c.(1003-1005)Cag>Gag	p.Q335E		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	335						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGTCATCGCTCAGCTTCCTGA	0.517																																						uc001auf.2		NA																	0					0						c.(1003-1005)CAG>GAG		arylacetamide deacetylase-like 4							106.0	103.0	104.0					1																	12726525		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726525C>G		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.1003C>G	1.37:g.12726525C>G	ENSP00000365395:p.Gln335Glu						p.Q335E	NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	1003	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	335			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000376221.1	37	c.1003C>G	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	9.013	0.982869	0.18889	.	.	ENSG00000204518	ENST00000376221	T	0.10763	2.84	4.38	3.43	0.39272	Alpha/beta hydrolase fold-3 (1);	0.492069	0.20326	N	0.094533	T	0.20618	0.0496	L	0.59912	1.85	0.09310	N	1	D	0.60575	0.988	D	0.64877	0.93	T	0.06338	-1.0832	10	0.02654	T	1	-22.5477	12.165	0.54125	0.1911:0.8089:0.0:0.0	.	335	Q5VUY2	ADCL4_HUMAN	E	335	ENSP00000365395:Q335E	ENSP00000365395:Q335E	Q	+	1	0	AADACL4	12649112	0.003000	0.15002	0.006000	0.13384	0.001000	0.01503	1.867000	0.39499	0.973000	0.38340	0.655000	0.94253	CAG		0.517	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		10	106	0	0	0	0	10	106				
PRAMEF12	390999	broad.mit.edu	37	1	12837210	12837210	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:12837210C>G	ENST00000357726.4	+	3	947	c.920C>G	c.(919-921)tCg>tGg	p.S307W		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	307					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTCAGAGTCGGACCTGAAG	0.557																																						uc001aui.2		NA																	0				ovary(3)	3						c.(919-921)TCG>TGG		PRAME family member 12							137.0	144.0	141.0					1																	12837210		2203	4300	6503	SO:0001583	missense	390999							g.chr1:12837210C>G		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.920C>G	1.37:g.12837210C>G	ENSP00000350358:p.Ser307Trp						p.S307W	NM_001080830	NP_001074299	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	947	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	307						Missense_Mutation	SNP	ENST00000357726.4	37	c.920C>G	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	13.09	2.134809	0.37728	.	.	ENSG00000116726	ENST00000357726	T	0.11930	2.73	2.83	0.816	0.18768	.	1.047030	0.07535	N	0.912873	T	0.43211	0.1237	H	0.94385	3.53	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.13282	-1.0515	10	0.87932	D	0	.	3.07	0.06227	0.0:0.4916:0.2353:0.2731	.	307	O95522	PRA12_HUMAN	W	307	ENSP00000350358:S307W	ENSP00000350358:S307W	S	+	2	0	PRAMEF12	12759797	0.003000	0.15002	0.000000	0.03702	0.283000	0.27025	1.516000	0.35856	0.216000	0.20781	0.205000	0.17691	TCG		0.557	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		45	127	0	0	0	0	45	127				
PDPN	10630	broad.mit.edu	37	1	13936917	13936917	+	Silent	SNP	C	C	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:13936917C>A	ENST00000509009.1	+	3	266	c.222C>A	c.(220-222)cgC>cgA	p.R74R	PDPN_ENST00000487038.1_Silent_p.R37R|PDPN_ENST00000294489.6_Silent_p.R155R|PDPN_ENST00000376057.4_Silent_p.R155R|PDPN_ENST00000513143.1_Silent_p.R37R|PDPN_ENST00000376061.4_Silent_p.R37R|PDPN_ENST00000475043.1_Silent_p.R37R					podoplanin											endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CAGGCATTCGCATCGAGGATC	0.473																																						uc001avd.2		NA																	0				ovary(2)	2						c.(463-465)CGC>CGA		lung type-I cell membrane-associated							120.0	110.0	113.0					1																	13936917		2203	4300	6503	SO:0001819	synonymous_variant	10630				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		g.chr1:13936917C>A	AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"""lung type I cell membrane associated glycoprotein"""	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000509009.1:c.222C>A	1.37:g.13936917C>A						PDPN_uc001avc.2_Silent_p.R155R|PDPN_uc009vob.2_Silent_p.R37R|PDPN_uc009voc.2_Silent_p.R37R|PDPN_uc001ave.2_Silent_p.R37R|PDPN_uc001avf.2_Silent_p.R37R	p.R155R	NM_006474	NP_006465	Q86YL7	PDPN_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)	3	514	+	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	79			Extracellular (Potential).			Silent	SNP	ENST00000509009.1	37	c.465C>A																																																																																					0.473	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367736.1	NM_006474		4	66	1	0	0.00909568	0.0097977	4	66				
PEF1	553115	broad.mit.edu	37	1	32098207	32098207	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:32098207C>T	ENST00000373703.4	-	4	536	c.514G>A	c.(514-516)Gat>Aat	p.D172N	PEF1_ENST00000492061.1_5'Flank	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	172	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)|response to calcium ion (GO:0051592)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|poly(A) RNA binding (GO:0044822)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		CCGTAGACATCGATGCGGCCT	0.557																																						uc001bth.1		NA																	0					0						c.(514-516)GAT>AAT		penta-EF-hand domain containing 1							56.0	54.0	55.0					1																	32098207		2203	4300	6503	SO:0001583	missense	553115				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity	g.chr1:32098207C>T		CCDS345.1	1p34	2013-01-10			ENSG00000162517	ENSG00000162517		"""EF-hand domain containing"""	30009	protein-coding gene	gene with protein product	"""peflin"""	610033				10486255, 11883899	Standard	NM_012392		Approved	PEF1A	uc001bth.2	Q9UBV8	OTTHUMG00000003877	ENST00000373703.4:c.514G>A	1.37:g.32098207C>T	ENSP00000362807:p.Asp172Asn					PEF1_uc001bte.1_Missense_Mutation_p.D11N|PEF1_uc001btf.1_Missense_Mutation_p.D11N|PEF1_uc001btg.1_Missense_Mutation_p.D102N	p.D172N	NM_012392	NP_036524	Q9UBV8	PEF1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0546)	4	526	-		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)	172			EF-hand 2.			Missense_Mutation	SNP	ENST00000373703.4	37	c.514G>A	CCDS345.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616163	0.66672	.	.	ENSG00000162517	ENST00000373703	T	0.71461	-0.57	3.94	3.94	0.45596	EF-hand-like domain (1);	0.044241	0.85682	D	0.000000	T	0.76435	0.3987	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.70245	-0.4925	10	0.12430	T	0.62	.	15.9339	0.79686	0.0:1.0:0.0:0.0	.	172	Q9UBV8	PEF1_HUMAN	N	172	ENSP00000362807:D172N	ENSP00000362807:D172N	D	-	1	0	PEF1	31870794	1.000000	0.71417	0.490000	0.27465	0.996000	0.88848	7.320000	0.79064	2.492000	0.84095	0.455000	0.32223	GAT		0.557	PEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011046.1	NM_012392		14	32	0	0	0	0	14	32				
SYDE2	84144	broad.mit.edu	37	1	85666170	85666170	+	Silent	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:85666170G>A	ENST00000341460.5	-	1	559	c.510C>T	c.(508-510)ggC>ggT	p.G170G		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	170					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GGTCTCCTTTGCCACTGCGTA	0.642																																						uc009wcm.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(508-510)GGC>GGT		synapse defective 1, Rho GTPase, homolog 2							43.0	46.0	45.0					1																	85666170		1925	4136	6061	SO:0001819	synonymous_variant	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85666170G>A	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.510C>T	1.37:g.85666170G>A						SYDE2_uc001dku.3_Silent_p.G170G	p.G170G	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	1	559	-			170					Q5VT96|Q8NDB8|Q9H8A6	Silent	SNP	ENST00000341460.5	37	c.510C>T	CCDS44169.1																																																																																				0.642	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			31	51	0	0	0	0	31	51				
DENND2D	79961	broad.mit.edu	37	1	111730992	111730992	+	Splice_Site	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:111730992G>C	ENST00000357640.4	-	11	1329	c.1100C>G	c.(1099-1101)aCt>aGt	p.T367S	DENND2D_ENST00000369752.5_Splice_Site_p.T364S	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	367					positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TTGTTCTGCAGCTGCAGGAGA	0.483																																						uc001eak.1		NA																	0				ovary(1)	1						c.(1099-1101)ACT>AGT		DENN/MADD domain containing 2D							55.0	55.0	55.0					1																	111730992		2203	4300	6503	SO:0001630	splice_region_variant	79961							g.chr1:111730992G>C		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.1100-1C>G	1.37:g.111730992G>C						DENND2D_uc001eal.1_Missense_Mutation_p.T364S	p.T367S	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	11	1300	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	367					Q5T5V6|Q9BSU0	Missense_Mutation	SNP	ENST00000357640.4	37	c.1100C>G	CCDS831.1	.	.	.	.	.	.	.	.	.	.	G	7.260	0.605043	0.14002	.	.	ENSG00000162777	ENST00000357640;ENST00000369752	T;T	0.14022	2.54;2.55	5.75	5.75	0.90469	.	0.129559	0.49916	D	0.000124	T	0.07052	0.0179	L	0.56769	1.78	0.33324	D	0.567691	B;B	0.27997	0.197;0.009	B;B	0.25140	0.058;0.01	T	0.16305	-1.0407	10	0.09843	T	0.71	.	17.7937	0.88562	0.0:0.0:1.0:0.0	.	364;367	Q9H6A0-2;Q9H6A0	.;DEN2D_HUMAN	S	367;364	ENSP00000350266:T367S;ENSP00000358767:T364S	ENSP00000350266:T367S	T	-	2	0	DENND2D	111532515	0.993000	0.37304	1.000000	0.80357	0.643000	0.38383	2.142000	0.42177	2.878000	0.98634	0.650000	0.86243	ACT		0.483	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901	Missense_Mutation	20	44	0	0	0	0	20	44				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						uc001end.3		NA																	5	Substitution - Missense(5)		skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)		0						c.(10588-10590)GAA>AAA		hypothetical protein LOC100132406																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	p.E3530K	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	85	10623	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10588G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	77	0	0	0	0	5	77				
LINGO4	339398	broad.mit.edu	37	1	151774300	151774300	+	Missense_Mutation	SNP	C	C	T	rs201618190		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:151774300C>T	ENST00000368820.3	-	2	1818	c.881G>A	c.(880-882)cGa>cAa	p.R294Q		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	294						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGAGCCTTCGGGCTGGGAT	0.622																																						uc001ezf.1		NA																	0				large_intestine(1)	1						c.(880-882)CGA>CAA		leucine rich repeat and Ig domain containing 4		C	GLN/ARG	0,4406		0,0,2203	53.0	60.0	58.0		881	3.7	0.5	1		58	1,8599	1.2+/-3.3	0,1,4299	yes	missense	LINGO4	NM_001004432.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	294/594	151774300	1,13005	2203	4300	6503	SO:0001583	missense	339398					integral to membrane		g.chr1:151774300C>T		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.881G>A	1.37:g.151774300C>T	ENSP00000357810:p.Arg294Gln						p.R294Q	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	1071	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		294			Extracellular (Potential).|LRR 9.			Missense_Mutation	SNP	ENST00000368820.3	37	c.881G>A	CCDS30855.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418592	0.62622	0.0	1.16E-4	ENSG00000213171	ENST00000368820	T	0.57107	0.42	5.51	3.65	0.41850	.	0.207171	0.25045	N	0.033567	T	0.30039	0.0752	N	0.04724	-0.175	0.38889	D	0.957084	D	0.69078	0.997	P	0.59171	0.853	T	0.29518	-1.0009	10	0.41790	T	0.15	.	9.8871	0.41268	0.0:0.8365:0.0:0.1635	.	294	Q6UY18	LIGO4_HUMAN	Q	294	ENSP00000357810:R294Q	ENSP00000357810:R294Q	R	-	2	0	LINGO4	150040924	0.511000	0.26179	0.546000	0.28166	0.879000	0.50718	1.546000	0.36179	0.893000	0.36288	-0.258000	0.10820	CGA		0.622	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		22	56	0	0	0	0	22	56				
FLG	2312	broad.mit.edu	37	1	152285104	152285104	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:152285104T>A	ENST00000368799.1	-	3	2293	c.2258A>T	c.(2257-2259)cAt>cTt	p.H753L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	753	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTTCTGAATGTCCCTCACT	0.582									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(2257-2259)CAT>CTT		filaggrin							380.0	367.0	371.0					1																	152285104		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152285104T>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2258A>T	1.37:g.152285104T>A	ENSP00000357789:p.His753Leu					uc001ezv.2_5'Flank	p.H753L	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2294	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		753			Filaggrin 4.|Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2258A>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	7.683	0.689455	0.14973	.	.	ENSG00000143631	ENST00000368799	T	0.04551	3.6	4.25	1.62	0.23740	.	.	.	.	.	T	0.05914	0.0154	M	0.71581	2.175	0.09310	N	1	D	0.63880	0.993	P	0.61940	0.896	T	0.32214	-0.9915	9	0.22706	T	0.39	-6.6657	8.2121	0.31490	0.0:0.0:0.3968:0.6032	.	753	P20930	FILA_HUMAN	L	753	ENSP00000357789:H753L	ENSP00000357789:H753L	H	-	2	0	FLG	150551728	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.490000	0.22403	0.643000	0.30638	0.392000	0.25879	CAT		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		15	785	0	0	0	0	15	785				
IQGAP3	128239	broad.mit.edu	37	1	156532415	156532415	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:156532415G>C	ENST00000361170.2	-	9	851	c.841C>G	c.(841-843)Cag>Gag	p.Q281E		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	281					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.Q281K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATTTCAGCCTGAGTTAGGTAG	0.507																																						uc001fpf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(841-843)CAG>GAG		IQ motif containing GTPase activating protein 3							276.0	235.0	249.0					1																	156532415		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156532415G>C	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.841C>G	1.37:g.156532415G>C	ENSP00000354451:p.Gln281Glu					IQGAP3_uc009wsb.1_Missense_Mutation_p.Q238E	p.Q281E	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			9	916	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		281					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.841C>G	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	G	33	5.205448	0.95033	.	.	ENSG00000183856	ENST00000361170	T	0.06294	3.32	5.77	5.77	0.91146	.	0.205017	0.43260	D	0.000589	T	0.23210	0.0561	M	0.85710	2.77	0.51233	D	0.999912	D	0.64830	0.994	D	0.70716	0.97	T	0.00641	-1.1631	10	0.62326	D	0.03	-23.6303	18.9245	0.92538	0.0:0.0:1.0:0.0	.	281	Q86VI3	IQGA3_HUMAN	E	281	ENSP00000354451:Q281E	ENSP00000354451:Q281E	Q	-	1	0	IQGAP3	154799039	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	9.598000	0.98277	2.884000	0.98904	0.655000	0.94253	CAG		0.507	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		49	135	0	0	0	0	49	135				
ATP2B4	493	broad.mit.edu	37	1	203678644	203678644	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:203678644G>C	ENST00000357681.5	+	11	2896	c.1773G>C	c.(1771-1773)aaG>aaC	p.K591N	ATP2B4_ENST00000341360.2_Missense_Mutation_p.K591N|ATP2B4_ENST00000391954.2_Missense_Mutation_p.K591N|ATP2B4_ENST00000367218.3_Missense_Mutation_p.K591N|ATP2B4_ENST00000367219.3_Missense_Mutation_p.K579N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	591					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTACAGCAAGGGCGCCTCTG	0.557																																						uc001gzw.2		NA																	0				ovary(2)|skin(1)	3						c.(1771-1773)AAG>AAC		plasma membrane calcium ATPase 4 isoform 4b							77.0	71.0	73.0					1																	203678644		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203678644G>C	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1773G>C	1.37:g.203678644G>C	ENSP00000350310:p.Lys591Asn					ATP2B4_uc001gzv.2_Missense_Mutation_p.K591N|ATP2B4_uc009xaq.2_Missense_Mutation_p.K591N	p.K591N	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		11	2657	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		591			Cytoplasmic (Potential).		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.1773G>C	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726473	0.69074	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04	5.52	1.63	0.23807	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.56097	D	0.000030	D	0.94915	0.8356	H	0.99545	4.62	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.98	D;D;P	0.85130	0.94;0.997;0.721	D	0.92851	0.6297	10	0.87932	D	0	-20.9757	8.3806	0.32468	0.4568:0.0:0.5432:0.0	.	591;591;591	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	N	591;591;579;591;591	ENSP00000350310:K591N;ENSP00000356187:K591N;ENSP00000356188:K579N;ENSP00000375816:K591N;ENSP00000340930:K591N	ENSP00000340930:K591N	K	+	3	2	ATP2B4	201945267	0.996000	0.38824	1.000000	0.80357	0.969000	0.65631	0.370000	0.20433	0.312000	0.23038	-0.222000	0.12452	AAG		0.557	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		7	74	0	0	0	0	7	74				
OR2L2	26246	broad.mit.edu	37	1	248201955	248201955	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:248201955T>C	ENST00000366479.2	+	1	482	c.386T>C	c.(385-387)cTc>cCc	p.L129P	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGCTTTCCTCTCCACTATCCC	0.433																																						uc001idw.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(385-387)CTC>CCC		olfactory receptor, family 2, subfamily L,							170.0	149.0	156.0					1																	248201955		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248201955T>C	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.386T>C	1.37:g.248201955T>C	ENSP00000355435:p.Leu129Pro					OR2L13_uc001ids.2_Intron	p.L129P	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	482	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		129			Cytoplasmic (Potential).		Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.386T>C	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	14.81	2.647940	0.47258	.	.	ENSG00000203663	ENST00000366479	T	0.01279	5.06	1.9	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.29253	U	0.012683	T	0.07052	0.0179	H	0.98849	4.35	0.58432	D	0.999996	P	0.45594	0.862	B	0.43360	0.417	T	0.03717	-1.1010	10	0.87932	D	0	.	9.0367	0.36291	0.0:0.0:0.0:1.0	.	129	Q8NH16	OR2L2_HUMAN	P	129	ENSP00000355435:L129P	ENSP00000355435:L129P	L	+	2	0	OR2L2	246268578	0.569000	0.26643	0.028000	0.17463	0.024000	0.10985	5.714000	0.68422	0.746000	0.32786	0.163000	0.16589	CTC		0.433	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		6	179	0	0	0	0	6	179				
LRRTM3	347731	broad.mit.edu	37	10	68687181	68687181	+	Silent	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr10:68687181G>A	ENST00000361320.4	+	2	1085	c.507G>A	c.(505-507)ctG>ctA	p.L169L	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	169					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CTAACTCCCTGAGAACCATCC	0.488																																						uc001jmz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(505-507)CTG>CTA		leucine rich repeat transmembrane neuronal 3							84.0	90.0	88.0					10																	68687181		2203	4300	6503	SO:0001819	synonymous_variant	347731					integral to membrane		g.chr10:68687181G>A	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.507G>A	10.37:g.68687181G>A						CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Silent_p.L169L	p.L169L	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	1057	+			169			Extracellular (Potential).|LRR 5.		A8K2A3|Q2NKX7|Q6N0A3	Silent	SNP	ENST00000361320.4	37	c.507G>A	CCDS7270.1																																																																																				0.488	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		27	90	0	0	0	0	27	90				
PSAP	5660	broad.mit.edu	37	10	73590951	73590951	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr10:73590951A>C	ENST00000394936.3	-	4	454	c.307T>G	c.(307-309)Tct>Gct	p.S103A	PSAP_ENST00000394934.1_Missense_Mutation_p.S103A			P07602	SAP_HUMAN	prosaposin	103	Saposin B-type 1. {ECO:0000255|PROSITE- ProRule:PRU00415}.				blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CATGAAGCAGACATGTTCGGT	0.483																																						uc001jsm.2		NA																	0				ovary(1)	1						c.(307-309)TCT>GCT		prosaposin isoform a preproprotein							153.0	126.0	135.0					10																	73590951		2203	4300	6503	SO:0001583	missense	5660				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73590951A>C	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.307T>G	10.37:g.73590951A>C	ENSP00000378394:p.Ser103Ala						p.S103A	NM_002778	NP_002769	P07602	SAP_HUMAN			4	411	-			103			Saposin B-type 1.		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.307T>G	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	A	9.464	1.093923	0.20471	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000404083;ENST00000394940	D;D	0.84298	-1.83;-1.83	5.74	1.81	0.25067	Saposin-like (2);Saposin B (2);	0.586758	0.19923	N	0.103043	T	0.72431	0.3459	L	0.28649	0.875	0.09310	N	1	B	0.23735	0.09	B	0.26517	0.07	T	0.55379	-0.8150	10	0.19590	T	0.45	1.2415	5.7603	0.18196	0.4843:0.1773:0.0:0.3384	.	103	P07602	SAP_HUMAN	A	103;103;103;103;106;28	ENSP00000378394:S103A;ENSP00000378392:S103A	ENSP00000350063:S103A	S	-	1	0	PSAP	73260957	0.002000	0.14202	0.048000	0.18961	0.018000	0.09664	0.446000	0.21694	0.494000	0.27859	-0.490000	0.04691	TCT		0.483	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		30	62	0	0	0	0	30	62				
COMTD1	118881	broad.mit.edu	37	10	76993922	76993922	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr10:76993922C>T	ENST00000372538.3	-	7	780	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	COMTD1_ENST00000460899.1_5'UTR	NM_144589.2	NP_653190.2	Q86VU5	CMTD1_HUMAN	catechol-O-methyltransferase domain containing 1	233						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	O-methyltransferase activity (GO:0008171)			central_nervous_system(1)|large_intestine(1)|lung(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)					GTTTAGGTTTCGCACACACTC	0.682																																					Colon(106;1192 2596 47278)	uc001jxb.2		NA																	0					0						c.(697-699)CGA>CAA		catechol-O-methyltransferase domain containing							71.0	62.0	65.0					10																	76993922		2203	4300	6503	SO:0001583	missense	118881					integral to membrane	O-methyltransferase activity	g.chr10:76993922C>T		CCDS7349.1	10q22.2	2013-09-20			ENSG00000165644	ENSG00000165644			26309	protein-coding gene	gene with protein product						12975309	Standard	NM_144589		Approved	FLJ23841	uc001jxb.3	Q86VU5	OTTHUMG00000018518	ENST00000372538.3:c.698G>A	10.37:g.76993922C>T	ENSP00000361616:p.Arg233Gln					COMTD1_uc001jxc.1_Silent_p.A324A	p.R233Q	NM_144589	NP_653190	Q86VU5	CMTD1_HUMAN			7	782	-	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)		233					Q8TE79	Missense_Mutation	SNP	ENST00000372538.3	37	c.698G>A	CCDS7349.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077017	0.76415	.	.	ENSG00000165644	ENST00000372538	T	0.72167	-0.63	4.96	3.09	0.35607	.	0.359879	0.26241	N	0.025514	T	0.61949	0.2388	M	0.64997	1.995	0.09310	N	1	B	0.27679	0.185	B	0.19391	0.025	T	0.55805	-0.8083	10	0.46703	T	0.11	-3.1193	6.8718	0.24125	0.0:0.7939:0.0:0.2061	.	233	Q86VU5	CMTD1_HUMAN	Q	233	ENSP00000361616:R233Q	ENSP00000361616:R233Q	R	-	2	0	COMTD1	76663928	0.679000	0.27596	0.208000	0.23602	0.710000	0.40934	2.183000	0.42565	1.084000	0.41184	0.561000	0.74099	CGA		0.682	COMTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048802.1	NM_144589		23	58	0	0	0	0	23	58				
LDB3	11155	broad.mit.edu	37	10	88451696	88451696	+	Missense_Mutation	SNP	G	G	A	rs573061464		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr10:88451696G>A	ENST00000361373.4	+	5	754	c.733G>A	c.(733-735)Gtc>Atc	p.V245I	LDB3_ENST00000458213.2_Missense_Mutation_p.V198I|LDB3_ENST00000263066.6_Missense_Mutation_p.V198I|LDB3_ENST00000372066.3_Missense_Mutation_p.V198I|LDB3_ENST00000372056.4_Missense_Mutation_p.V313I|LDB3_ENST00000429277.2_Missense_Mutation_p.V313I|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000310944.6_Missense_Mutation_p.V245I	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						CGCCTCTCCCGTCTACCAGGC	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		19110	0.0		0.0	False		,,,				2504	0.001					uc001kdv.2		NA																	0				ovary(1)	1						c.(733-735)GTC>ATC		LIM domain binding 3 isoform 1							131.0	119.0	123.0					10																	88451696		2203	4300	6503	SO:0001583	missense	11155					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding	g.chr10:88451696G>A	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.733G>A	10.37:g.88451696G>A	ENSP00000355296:p.Val245Ile					LDB3_uc010qml.1_Missense_Mutation_p.V245I|LDB3_uc010qmm.1_Missense_Mutation_p.V313I|LDB3_uc001kdu.2_Missense_Mutation_p.V198I|LDB3_uc009xsz.2_Intron|LDB3_uc001kdr.2_Missense_Mutation_p.V198I|LDB3_uc009xsy.2_Missense_Mutation_p.V313I|LDB3_uc001kds.2_Missense_Mutation_p.V245I|LDB3_uc001kdt.2_RNA	p.V245I	NM_007078	NP_009009	O75112	LDB3_HUMAN			5	756	+			245						Missense_Mutation	SNP	ENST00000361373.4	37	c.733G>A	CCDS7377.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004497	0.74932	.	.	ENSG00000122367	ENST00000539402;ENST00000429277;ENST00000458213;ENST00000372066;ENST00000263066;ENST00000372056;ENST00000310944;ENST00000361373	D;D;D;D;D;T;T	0.90844	-2.74;-2.74;-2.16;-2.74;-2.16;1.05;0.48	6.07	6.07	0.98685	.	0.000000	0.29900	N	0.010909	D	0.94988	0.8378	M	0.72894	2.215	0.80722	D	1	D;P;D;D;D;P;D	0.89917	0.999;0.867;1.0;1.0;0.999;0.804;1.0	D;B;D;D;D;B;D	0.91635	0.979;0.163;0.995;0.988;0.991;0.221;0.999	D	0.92178	0.5749	10	0.24483	T	0.36	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	313;245;313;245;198;245;198	B4E3K3;F5H0C2;O75112-4;O75112;O75112-2;O75112-5;O75112-6	.;.;.;LDB3_HUMAN;.;.;.	I	245;313;198;198;198;313;245;245	ENSP00000401437:V313I;ENSP00000409148:V198I;ENSP00000361136:V198I;ENSP00000263066:V198I;ENSP00000361126:V313I;ENSP00000311913:V245I;ENSP00000355296:V245I	ENSP00000263066:V198I	V	+	1	0	LDB3	88441676	1.000000	0.71417	0.971000	0.41717	0.377000	0.30045	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	GTC		0.602	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2			6	107	0	0	0	0	6	107				
MUC6	4588	broad.mit.edu	37	11	1026050	1026050	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:1026050C>G	ENST00000421673.2	-	21	2688	c.2638G>C	c.(2638-2640)Gac>Cac	p.D880H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	880	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGCTGGCCGTCGAAGGTGATG	0.677																																						uc001lsw.2		NA																	0				ovary(1)	1						c.(2638-2640)GAC>CAC		mucin 6, gastric							41.0	47.0	45.0					11																	1026050		2158	4238	6396	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1026050C>G	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2638G>C	11.37:g.1026050C>G	ENSP00000406861:p.Asp880His						p.D880H	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	21	2689	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	880			VWFD 3.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.2638G>C	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318167	0.40996	.	.	ENSG00000184956	ENST00000421673	T	0.78816	-1.21	3.91	3.91	0.45181	von Willebrand factor, type D domain (3);	.	.	.	.	D	0.91626	0.7354	H	0.95850	3.73	0.53005	D	0.999969	D	0.89917	1.0	D	0.97110	1.0	D	0.94675	0.7860	9	0.87932	D	0	.	16.2736	0.82632	0.0:1.0:0.0:0.0	.	880	Q6W4X9	MUC6_HUMAN	H	880	ENSP00000406861:D880H	ENSP00000406861:D880H	D	-	1	0	MUC6	1016050	1.000000	0.71417	0.798000	0.32154	0.021000	0.10359	7.770000	0.85390	1.897000	0.54924	0.491000	0.48974	GAC		0.677	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		3	7	0	0	0	0	3	7				
INSC	387755	broad.mit.edu	37	11	15222416	15222416	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:15222416T>G	ENST00000379554.3	+	7	927	c.881T>G	c.(880-882)tTc>tGc	p.F294C	INSC_ENST00000530161.1_Missense_Mutation_p.F247C|INSC_ENST00000528567.1_Missense_Mutation_p.F247C|INSC_ENST00000447214.2_Intron|INSC_ENST00000379556.3_Missense_Mutation_p.F247C|INSC_ENST00000424273.1_Intron|INSC_ENST00000525218.1_Intron	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	294					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CAGGACAGTTTCCGGTGCTTG	0.587																																						uc001mly.2		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)	5						c.(880-882)TTC>TGC		inscuteable isoform a							98.0	97.0	97.0					11																	15222416		2070	4226	6296	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15222416T>G	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.881T>G	11.37:g.15222416T>G	ENSP00000368872:p.Phe294Cys					INSC_uc001mlz.2_Missense_Mutation_p.F247C|INSC_uc001mma.2_Missense_Mutation_p.F247C|INSC_uc010rcs.1_Missense_Mutation_p.F282C|INSC_uc001mmb.2_Missense_Mutation_p.F247C|INSC_uc001mmc.2_Intron	p.F294C	NM_001031853	NP_001027024	Q1MX18	INSC_HUMAN			7	927	+			294					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.881T>G	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	T	19.45	3.829466	0.71258	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000416761;ENST00000528567;ENST00000530161	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.04	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.106418	0.64402	D	0.000004	T	0.60077	0.2241	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	0.988;0.963;1.0	P;P;D	0.69479	0.837;0.575;0.964	T	0.59392	-0.7463	10	0.41790	T	0.15	-11.9084	12.7342	0.57214	0.0:0.0:0.0:1.0	.	282;247;294	Q1MX18-5;A0PJX5;Q1MX18	.;.;INSC_HUMAN	C	294;247;282;247;247	ENSP00000368872:F294C;ENSP00000368874:F247C;ENSP00000435022:F247C;ENSP00000436194:F247C	ENSP00000368872:F294C	F	+	2	0	INSC	15178992	1.000000	0.71417	0.957000	0.39632	0.972000	0.66771	6.646000	0.74348	1.898000	0.54952	0.379000	0.24179	TTC		0.587	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853		3	45	0	0	0	0	3	45				
KCNA4	3739	broad.mit.edu	37	11	30033979	30033979	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:30033979G>C	ENST00000328224.6	-	2	1480	c.247C>G	c.(247-249)Cgg>Ggg	p.R83G	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	83					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CTCCTCCTCCGACTACCCCGG	0.632																																						uc001msk.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(247-249)CGG>GGG		potassium voltage-gated channel, shaker-related							43.0	45.0	45.0					11																	30033979		2033	4192	6225	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033979G>C	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.247C>G	11.37:g.30033979G>C	ENSP00000328511:p.Arg83Gly						p.R83G	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1399	-			83						Missense_Mutation	SNP	ENST00000328224.6	37	c.247C>G	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	5.220	0.226168	0.09916	.	.	ENSG00000182255	ENST00000328224	D	0.96967	-4.19	4.84	-0.00459	0.14021	.	1.696340	0.04460	U	0.374257	D	0.90195	0.6935	N	0.14661	0.345	0.09310	N	1	B	0.33940	0.433	B	0.21151	0.033	D	0.83437	0.0041	10	0.51188	T	0.08	.	9.055	0.36401	0.0841:0.0:0.2318:0.6841	.	83	P22459	KCNA4_HUMAN	G	83	ENSP00000328511:R83G	ENSP00000328511:R83G	R	-	1	2	KCNA4	29990555	0.794000	0.28838	0.022000	0.16811	0.072000	0.16883	0.743000	0.26231	0.085000	0.17107	0.561000	0.74099	CGG		0.632	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		4	81	0	0	0	0	4	81				
LRRC4C	57689	broad.mit.edu	37	11	40137416	40137416	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:40137416C>T	ENST00000278198.2	-	2	2390	c.427G>A	c.(427-429)Gct>Act	p.A143T	LRRC4C_ENST00000528697.1_Missense_Mutation_p.A143T|LRRC4C_ENST00000530763.1_Missense_Mutation_p.A143T|LRRC4C_ENST00000527150.1_Missense_Mutation_p.A143T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	143					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TATACAAAAGCTCCATTCGGG	0.438																																						uc001mxa.1		NA																	0				ovary(4)|skin(3)|central_nervous_system(1)	8						c.(427-429)GCT>ACT		netrin-G1 ligand precursor							70.0	72.0	71.0					11																	40137416		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137416C>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.427G>A	11.37:g.40137416C>T	ENSP00000278198:p.Ala143Thr					LRRC4C_uc001mxc.1_Missense_Mutation_p.A139T|LRRC4C_uc001mxd.1_Missense_Mutation_p.A139T|LRRC4C_uc001mxb.1_Missense_Mutation_p.A139T	p.A143T	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2391	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	143			LRR 3.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.427G>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837131	0.71373	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.94172	0.8130	L	0.27944	0.81	0.80722	D	1	D	0.69078	0.997	D	0.68039	0.955	D	0.94262	0.7503	10	0.51188	T	0.08	.	19.0894	0.93221	0.0:1.0:0.0:0.0	.	143	Q9HCJ2	LRC4C_HUMAN	T	143	ENSP00000278198:A143T;ENSP00000436976:A143T;ENSP00000437132:A143T;ENSP00000434761:A143T	ENSP00000278198:A143T	A	-	1	0	LRRC4C	40093992	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.776000	0.85560	2.754000	0.94517	0.650000	0.86243	GCT		0.438	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		23	53	0	0	0	0	23	53				
SLC22A12	116085	broad.mit.edu	37	11	64359366	64359366	+	Missense_Mutation	SNP	C	C	T	rs542473712	byFrequency	TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:64359366C>T	ENST00000377574.1	+	1	1085	c.338C>T	c.(337-339)aCg>aTg	p.T113M	SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377567.2_Missense_Mutation_p.T113M|SLC22A12_ENST00000336464.7_Missense_Mutation_p.T113M|SLC22A12_ENST00000377572.1_Missense_Mutation_p.T113M	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	113					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	GAGGCCGACACGGAGCCGTGT	0.672													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16088	0.0		0.0	False		,,,				2504	0.0					uc001oam.1		NA																	0				ovary(1)	1						c.(337-339)ACG>ATG		urate anion exchanger 1 isoform a							32.0	35.0	34.0					11																	64359366		2201	4297	6498	SO:0001583	missense	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64359366C>T	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.338C>T	11.37:g.64359366C>T	ENSP00000366797:p.Thr113Met					SLC22A12_uc009ypr.1_Missense_Mutation_p.T113M|SLC22A12_uc001oal.1_Translation_Start_Site|SLC22A12_uc009yps.1_Missense_Mutation_p.T113M|SLC22A12_uc001oan.1_Missense_Mutation_p.T113M|SLC22A12_uc009ypt.2_5'Flank	p.T113M	NM_144585	NP_653186	Q96S37	S22AC_HUMAN			1	1085	+			113					B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	37	c.338C>T	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700818	0.30142	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000336464	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	4.4	3.49	0.39957	Major facilitator superfamily domain (1);	0.267288	0.34245	N	0.004127	T	0.41581	0.1165	M	0.85299	2.745	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;0.968;1.0	D;D;P;D	0.71870	0.958;0.975;0.666;0.975	T	0.25328	-1.0135	10	0.54805	T	0.06	.	9.8551	0.41082	0.0:0.897:0.0:0.103	.	113;113;113;113	B5ME56;B3KV05;Q96S37-2;Q96S37	.;.;.;S22AC_HUMAN	M	113	ENSP00000366790:T113M;ENSP00000366797:T113M;ENSP00000366795:T113M;ENSP00000336836:T113M	ENSP00000336836:T113M	T	+	2	0	SLC22A12	64115942	0.994000	0.37717	0.061000	0.19648	0.100000	0.18952	4.021000	0.57196	0.833000	0.34828	0.484000	0.47621	ACG		0.672	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		18	27	0	0	0	0	18	27				
ZNF202	7753	broad.mit.edu	37	11	123597653	123597653	+	Silent	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:123597653C>G	ENST00000529691.1	-	7	1218	c.999G>C	c.(997-999)ctG>ctC	p.L333L	ZNF202_ENST00000530393.1_Silent_p.L333L|ZNF202_ENST00000336139.4_Silent_p.L333L			O95125	ZN202_HUMAN	zinc finger protein 202	333					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CCTCCAAACTCAGATCTTCCT	0.463																																						uc001pzd.1		NA																	0				ovary(1)	1						c.(997-999)CTG>CTC		zinc finger protein 202							135.0	159.0	151.0					11																	123597653		2194	4265	6459	SO:0001819	synonymous_variant	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123597653C>G	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.999G>C	11.37:g.123597653C>G						ZNF202_uc001pzc.1_Silent_p.L109L|ZNF202_uc001pze.1_Silent_p.L333L|ZNF202_uc001pzf.1_Silent_p.L333L	p.L333L	NM_003455	NP_003446	O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	9	1399	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	333					B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Silent	SNP	ENST00000529691.1	37	c.999G>C	CCDS8443.1																																																																																				0.463	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		9	226	0	0	0	0	9	226				
SLCO1C1	53919	broad.mit.edu	37	12	20885884	20885884	+	Missense_Mutation	SNP	G	G	T	rs368038819		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:20885884G>T	ENST00000266509.2	+	10	1596	c.1228G>T	c.(1228-1230)Ggg>Tgg	p.G410W	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G292W|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G410W|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.G410W|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G361W	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	410					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	AATATTCTCTGGGGGGATAGT	0.383																																						uc001rej.3		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(1228-1230)GGG>TGG		solute carrier organic anion transporter family,							104.0	101.0	102.0					12																	20885884		2203	4300	6503	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20885884G>T	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1228G>T	12.37:g.20885884G>T	ENSP00000266509:p.Gly410Trp					SLCO1C1_uc010sii.1_Missense_Mutation_p.G410W|SLCO1C1_uc010sij.1_Missense_Mutation_p.G361W|SLCO1C1_uc009zip.2_Missense_Mutation_p.G244W|SLCO1C1_uc001rei.2_Missense_Mutation_p.G410W|SLCO1C1_uc010sik.1_Missense_Mutation_p.G292W	p.G410W	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			11	1583	+	Esophageal squamous(101;0.149)		410			Helical; Name=8; (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.1228G>T	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387705	0.82902	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.11	5.11	0.69529	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.051725	0.85682	D	0.000000	T	0.81592	0.4855	H	0.95365	3.66	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.87177	0.2225	10	0.87932	D	0	.	18.7166	0.91678	0.0:0.0:1.0:0.0	.	292;361;410;410	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	W	410;361;410;410;292	ENSP00000444149:G410W;ENSP00000438665:G361W;ENSP00000266509:G410W;ENSP00000370964:G410W;ENSP00000444527:G292W	ENSP00000266509:G410W	G	+	1	0	SLCO1C1	20777151	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.206000	0.95056	2.641000	0.89580	0.591000	0.81541	GGG		0.383	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	NM_017435		16	74	1	0	3.53e-06	4.13e-06	16	74				
PPFIBP1	8496	broad.mit.edu	37	12	27824450	27824450	+	Silent	SNP	T	T	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:27824450T>G	ENST00000318304.8	+	14	1567	c.1284T>G	c.(1282-1284)acT>acG	p.T428T	PPFIBP1_ENST00000542629.1_Silent_p.T397T|PPFIBP1_ENST00000537927.1_Silent_p.T275T|PPFIBP1_ENST00000228425.6_Silent_p.T411T	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	428					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAAAGTTGACTCCTAAGCCAG	0.343																																						uc001ric.1		NA																PPFIBP1/ALK(3)	0				soft_tissue(3)|kidney(1)|skin(1)	5						c.(1282-1284)ACT>ACG		PTPRF interacting protein binding protein 1							79.0	77.0	78.0					12																	27824450		2203	4299	6502	SO:0001819	synonymous_variant	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27824450T>G	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1284T>G	12.37:g.27824450T>G						PPFIBP1_uc010sjr.1_Silent_p.T259T|PPFIBP1_uc001rib.1_Silent_p.T411T|PPFIBP1_uc001ria.2_Silent_p.T397T|PPFIBP1_uc001rid.1_Silent_p.T275T	p.T428T	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN			14	1661	+	Lung SC(9;0.0873)		428					O75336|Q86X70|Q9NY03|Q9ULJ0	Silent	SNP	ENST00000318304.8	37	c.1284T>G	CCDS55812.1																																																																																				0.343	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		7	71	0	0	0	0	7	71				
KIF5A	3798	broad.mit.edu	37	12	57975223	57975223	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:57975223C>T	ENST00000455537.2	+	25	3055	c.2781C>T	c.(2779-2781)taC>taT	p.Y927Y	KIF5A_ENST00000286452.5_Silent_p.Y838Y	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	927	Globular.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTGGCCACTACCCAGCATCCT	0.547																																						uc001sor.1		NA																	0				ovary(2)|skin(1)	3						c.(2779-2781)TAC>TAT		kinesin family member 5A							84.0	83.0	84.0					12																	57975223		2203	4300	6503	SO:0001819	synonymous_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57975223C>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2781C>T	12.37:g.57975223C>T						KIF5A_uc010srr.1_Silent_p.Y838Y	p.Y927Y	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			25	2989	+			927			Globular.		A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	c.2781C>T	CCDS8945.1																																																																																				0.547	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		9	72	0	0	0	0	9	72				
BEST3	144453	broad.mit.edu	37	12	70048856	70048856	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:70048856G>C	ENST00000330891.5	-	10	2064	c.1838C>G	c.(1837-1839)tCt>tGt	p.S613C	BEST3_ENST00000553096.1_Missense_Mutation_p.S507C|BEST3_ENST00000488961.1_Missense_Mutation_p.S400C|BEST3_ENST00000331471.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	613					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGCTGGCTGAGAGCTCATGGG	0.488																																						uc001svg.2		NA																	0					0						c.(1837-1839)TCT>TGT		vitelliform macular dystrophy 2-like 3 isoform							82.0	80.0	81.0					12																	70048856		1880	4110	5990	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70048856G>C	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.1838C>G	12.37:g.70048856G>C	ENSP00000332413:p.Ser613Cys					BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.S400C|BEST3_uc010stm.1_Missense_Mutation_p.S507C	p.S613C	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		10	2065	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		613			Cytoplasmic (Potential).		B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.1838C>G	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883609	0.33255	.	.	ENSG00000127325	ENST00000488961;ENST00000330891;ENST00000553096	D;D;D	0.98044	-4.34;-4.68;-4.64	5.0	3.05	0.35203	.	1.143810	0.06440	N	0.725850	D	0.93936	0.8059	N	0.19112	0.55	0.09310	N	1	P;P	0.47545	0.679;0.897	B;B	0.40901	0.237;0.343	D	0.89317	0.3637	10	0.56958	D	0.05	0.1623	6.9619	0.24601	0.2287:0.0:0.7713:0.0	.	613;400	Q8N1M1;B5MDI8	BEST3_HUMAN;.	C	400;613;507	ENSP00000433213:S400C;ENSP00000332413:S613C;ENSP00000449548:S507C	ENSP00000332413:S613C	S	-	2	0	BEST3	68335123	0.004000	0.15560	0.001000	0.08648	0.060000	0.15804	1.469000	0.35343	1.246000	0.43901	0.563000	0.77884	TCT		0.488	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		18	32	0	0	0	0	18	32				
BTBD11	121551	broad.mit.edu	37	12	108006645	108006645	+	Splice_Site	SNP	A	A	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:108006645A>G	ENST00000280758.5	+	6	2426	c.1898A>G	c.(1897-1899)gAg>gGg	p.E633G	BTBD11_ENST00000357167.4_Splice_Site_p.E170G|BTBD11_ENST00000490090.2_Splice_Site_p.E633G|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Splice_Site_p.E633G	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	633						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTGAATGTGGAGGTGAGGGTG	0.632																																						uc001tmk.1		NA																	0				skin(2)|ovary(1)	3						c.(1897-1899)GAG>GGG		BTB (POZ) domain containing 11 isoform a							63.0	49.0	54.0					12																	108006645		2203	4300	6503	SO:0001630	splice_region_variant	121551					integral to membrane	DNA binding	g.chr12:108006645A>G	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1899+1A>G	12.37:g.108006645A>G						BTBD11_uc009zut.1_Missense_Mutation_p.E633G|BTBD11_uc001tmj.2_Missense_Mutation_p.E633G|BTBD11_uc001tml.1_Missense_Mutation_p.E170G	p.E633G	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			6	2419	+			633					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.1898A>G	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	A	30	5.055960	0.93793	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	T;T;T;T	0.64991	1.15;-0.13;1.19;0.91	5.31	5.31	0.75309	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.70413	0.3221	L	0.35793	1.09	0.80722	D	1	D;P;D;D	0.64830	0.986;0.939;0.994;0.981	P;P;D;P	0.66716	0.691;0.795;0.946;0.652	T	0.73202	-0.4057	10	0.62326	D	0.03	.	15.558	0.76216	1.0:0.0:0.0:0.0	.	633;170;633;633	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	G	633;633;633;170	ENSP00000280758:E633G;ENSP00000413889:E633G;ENSP00000447319:E633G;ENSP00000349690:E170G	ENSP00000280758:E633G	E	+	2	0	BTBD11	106530775	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.248000	0.95456	2.147000	0.66899	0.528000	0.53228	GAG		0.632	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322	Missense_Mutation	6	5	0	0	0	0	6	5				
JPH4	84502	broad.mit.edu	37	14	24040391	24040391	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr14:24040391C>G	ENST00000397118.3	-	6	2451	c.1549G>C	c.(1549-1551)Gag>Cag	p.E517Q	JPH4_ENST00000356300.4_Missense_Mutation_p.E517Q|JPH4_ENST00000544177.1_Missense_Mutation_p.E182Q	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	517					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		ATCCCAGCCTCATCCTCAGCC	0.647																																						uc001wkq.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1549-1551)GAG>CAG		junctophilin 4							149.0	154.0	153.0					14																	24040391		2203	4300	6503	SO:0001583	missense	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040391C>G	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1549G>C	14.37:g.24040391C>G	ENSP00000380307:p.Glu517Gln					JPH4_uc010tnr.1_Missense_Mutation_p.E182Q|JPH4_uc001wkr.2_Missense_Mutation_p.E517Q	p.E517Q	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2467	-	all_cancers(95;0.000251)		517			Cytoplasmic (Potential).		D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	c.1549G>C	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030272	0.75504	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	T;T;T	0.59772	0.28;0.28;0.24	5.17	5.17	0.71159	.	0.000000	0.30383	U	0.009754	T	0.62768	0.2455	N	0.22421	0.69	0.35724	D	0.81739	D;D	0.76494	0.999;0.993	D;D	0.83275	0.996;0.968	T	0.64106	-0.6485	10	0.22109	T	0.4	.	16.5185	0.84307	0.0:1.0:0.0:0.0	.	182;517	F5H1L9;Q96JJ6	.;JPH4_HUMAN	Q	517;517;517;518;182	ENSP00000348648:E517Q;ENSP00000380307:E517Q;ENSP00000439562:E182Q	ENSP00000267407:E518Q	E	-	1	0	JPH4	23110231	0.995000	0.38212	0.998000	0.56505	0.969000	0.65631	2.714000	0.47202	2.575000	0.86900	0.655000	0.94253	GAG		0.647	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		18	164	0	0	0	0	18	164				
SERPINA9	327657	broad.mit.edu	37	14	94931144	94931144	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr14:94931144T>C	ENST00000380365.3	-	4	1028	c.950A>G	c.(949-951)aAt>aGt	p.N317S	SERPINA9_ENST00000424550.2_Missense_Mutation_p.N186S|SERPINA9_ENST00000546329.1_Missense_Mutation_p.N299S|SERPINA9_ENST00000448305.2_Missense_Mutation_p.N237S|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000298845.7_Missense_Mutation_p.N235S|SERPINA9_ENST00000337425.5_Missense_Mutation_p.N335S			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	317					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.N335S(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GGTTTCCAGATTGTAGGAGGC	0.448																																						uc001ydf.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|central_nervous_system(1)	2						c.(1003-1005)AAT>AGT		serine (or cysteine) proteinase inhibitor, clade							89.0	79.0	82.0					14																	94931144		1880	4113	5993	SO:0001583	missense	327657				regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity	g.chr14:94931144T>C	AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"""Serine (or cysteine) peptidase inhibitors"""	15995	protein-coding gene	gene with protein product		615677	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"""			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.950A>G	14.37:g.94931144T>C	ENSP00000369723:p.Asn317Ser					SERPINA9_uc001yde.2_Missense_Mutation_p.N235S|SERPINA9_uc010avc.2_Missense_Mutation_p.N186S|SERPINA9_uc001ydg.2_Missense_Mutation_p.N299S|SERPINA9_uc001ydh.1_Missense_Mutation_p.N335S|SERPINA9_uc001ydi.1_Missense_Mutation_p.N299S	p.N335S	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)	4	1165	-		all_cancers(154;0.0691)|all_epithelial(191;0.233)	317					B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Missense_Mutation	SNP	ENST00000380365.3	37	c.1004A>G		.	.	.	.	.	.	.	.	.	.	T	10.70	1.424890	0.25639	.	.	ENSG00000170054	ENST00000448305;ENST00000298845;ENST00000424550;ENST00000337425;ENST00000380365;ENST00000546329	D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	3.81	3.81	0.43845	Serpin domain (3);	0.566561	0.16502	N	0.211598	T	0.81389	0.4812	N	0.22421	0.69	0.09310	N	0.999999	P;B;P;B;P	0.45902	0.486;0.099;0.696;0.007;0.868	B;B;B;B;P	0.45037	0.268;0.06;0.281;0.007;0.467	T	0.73219	-0.4052	10	0.42905	T	0.14	.	12.7203	0.57137	0.0:0.0:0.0:1.0	.	299;317;237;335;235	Q86WD7-4;Q86WD7;Q86WD7-6;Q86WD7-7;Q86WD7-2	.;SPA9_HUMAN;.;.;.	S	237;235;186;335;317;299	ENSP00000414092:N237S;ENSP00000298845:N235S;ENSP00000409012:N186S;ENSP00000337133:N335S;ENSP00000369723:N317S;ENSP00000445476:N299S	ENSP00000298845:N235S	N	-	2	0	SERPINA9	94000897	0.054000	0.20591	0.894000	0.35097	0.823000	0.46562	2.035000	0.41155	1.743000	0.51761	0.454000	0.30748	AAT		0.448	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395803.2	NM_175739		24	45	0	0	0	0	24	45				
AHNAK2	113146	broad.mit.edu	37	14	105408273	105408273	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr14:105408273G>T	ENST00000333244.5	-	7	13634	c.13515C>A	c.(13513-13515)gaC>gaA	p.D4505E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4505						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGGTCTTGAGGTCCCCCTGCA	0.612																																						uc010axc.1		NA																	0				ovary(1)	1						c.(13513-13515)GAC>GAA		AHNAK nucleoprotein 2							133.0	140.0	138.0					14																	105408273		2028	4177	6205	SO:0001583	missense	113146					nucleus		g.chr14:105408273G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13515C>A	14.37:g.105408273G>T	ENSP00000353114:p.Asp4505Glu					AHNAK2_uc001ypx.2_Missense_Mutation_p.D4405E	p.D4505E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	13635	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4505					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.13515C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	10.09	1.254450	0.22965	.	.	ENSG00000185567	ENST00000333244	T	0.02050	4.48	2.75	0.715	0.18186	.	2.320590	0.03762	N	0.258257	T	0.04679	0.0127	L	0.55481	1.735	0.09310	N	1	P	0.45827	0.867	P	0.54270	0.747	T	0.43845	-0.9366	10	0.07990	T	0.79	-13.1126	0.4848	0.00554	0.3271:0.1818:0.312:0.1791	.	4505	Q8IVF2	AHNK2_HUMAN	E	4505	ENSP00000353114:D4505E	ENSP00000353114:D4505E	D	-	3	2	AHNAK2	104479318	0.000000	0.05858	0.022000	0.16811	0.066000	0.16364	-4.300000	0.00257	0.043000	0.15746	-0.699000	0.03677	GAC		0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	264	1	0	8.13e-05	9.12e-05	7	264				
JAG2	3714	broad.mit.edu	37	14	105609208	105609208	+	Missense_Mutation	SNP	C	C	T	rs367844673		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr14:105609208C>T	ENST00000331782.3	-	26	3944	c.3541G>A	c.(3541-3543)Gag>Aag	p.E1181K	JAG2_ENST00000347004.2_Missense_Mutation_p.E1143K	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1181					auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CCCAGATCCTCGTCCTCCTCA	0.701													C|||	1	0.000199681	0.0	0.0	5008	,	,		9990	0.0		0.0	False		,,,				2504	0.001					uc001yqg.2		NA																	0				lung(3)|breast(2)	5						c.(3541-3543)GAG>AAG		jagged 2 isoform a precursor		C	LYS/GLU,LYS/GLU	0,4394		0,0,2197	26.0	24.0	25.0		3541,3427	4.2	0.1	14		25	2,8590		0,2,4294	no	missense,missense	JAG2	NM_002226.3,NM_145159.1	56,56	0,2,6491	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	1181/1239,1143/1201	105609208	2,12984	2197	4296	6493	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105609208C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.3541G>A	14.37:g.105609208C>T	ENSP00000328169:p.Glu1181Lys					JAG2_uc010axf.2_Silent_p.T4T|JAG2_uc001yqf.2_Missense_Mutation_p.E585K|JAG2_uc001yqh.2_Missense_Mutation_p.E1143K	p.E1181K	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	26	3945	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	1181			Cytoplasmic (Potential).		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.3541G>A	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669248	0.47677	0.0	2.33E-4	ENSG00000184916	ENST00000331782;ENST00000347004	D;D	0.86694	-2.15;-2.16	4.25	4.25	0.50352	.	0.570243	0.17635	N	0.167248	D	0.88844	0.6547	L	0.40543	1.245	0.38126	D	0.938013	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	D	0.87022	0.2129	10	0.30854	T	0.27	.	10.075	0.42355	0.0:0.8979:0.0:0.1021	.	1143;1181	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	K	1181;1143	ENSP00000328169:E1181K;ENSP00000328566:E1143K	ENSP00000328169:E1181K	E	-	1	0	JAG2	104680253	0.958000	0.32768	0.118000	0.21660	0.242000	0.25591	3.400000	0.52594	1.920000	0.55613	0.491000	0.48974	GAG		0.701	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2			19	13	0	0	0	0	19	13				
TJP1	7082	broad.mit.edu	37	15	30011211	30011211	+	Silent	SNP	G	G	A	rs373853690		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr15:30011211G>A	ENST00000346128.6	-	21	3609	c.3135C>T	c.(3133-3135)taC>taT	p.Y1045Y	TJP1_ENST00000356107.6_Silent_p.Y1045Y|TJP1_ENST00000400011.2_Silent_p.Y969Y|TJP1_ENST00000545208.2_Silent_p.Y965Y	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1045					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GTTTCTCTACGTATGGGAGTT	0.502																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.2		NA																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(3133-3135)TAC>TAT		tight junction protein 1 isoform a		G	,	0,4084		0,0,2042	281.0	282.0	282.0		3135,2895	-3.4	0.0	15		282	1,8389		0,1,4194	no	coding-synonymous,coding-synonymous	TJP1	NM_003257.3,NM_175610.2	,	0,1,6236	AA,AG,GG		0.0119,0.0,0.0080	,	1045/1749,965/1669	30011211	1,12473	2042	4195	6237	SO:0001819	synonymous_variant	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30011211G>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.3135C>T	15.37:g.30011211G>A						TJP1_uc010azl.2_Silent_p.Y1033Y|TJP1_uc001zcq.2_Silent_p.Y969Y|TJP1_uc001zcs.2_Silent_p.Y965Y	p.Y1045Y	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	21	3610	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1045					B4E3K1|Q2NKP3|Q4ZGJ6	Silent	SNP	ENST00000346128.6	37	c.3135C>T	CCDS42007.1																																																																																				0.502	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		73	172	0	0	0	0	73	172				
TRPM1	4308	broad.mit.edu	37	15	31294599	31294599	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr15:31294599T>C	ENST00000256552.6	-	28	4451	c.4304A>G	c.(4303-4305)tAt>tGt	p.Y1435C	TRPM1_ENST00000397795.2_Missense_Mutation_p.Y1413C|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.Y1452C	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTCCAGGGGATAGGAAATAGT	0.393																																						uc001zfm.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(4237-4239)TAT>TGT		transient receptor potential cation channel,							150.0	137.0	141.0					15																	31294599		1857	4115	5972	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31294599T>C	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4304A>G	15.37:g.31294599T>C	ENSP00000256552:p.Tyr1435Cys					TRPM1_uc010azy.2_Missense_Mutation_p.Y1320C|TRPM1_uc001zfl.2_RNA	p.Y1413C	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	27	4366	-		all_lung(180;1.92e-11)	1413			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.4238A>G	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	T	3.007	-0.204831	0.06180	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.51574	0.72;0.7;0.72	4.91	1.17	0.20885	.	0.521615	0.18938	N	0.127023	T	0.29817	0.0745	L	0.29908	0.895	0.27908	N	0.938718	B;B	0.09022	0.002;0.001	B;B	0.10450	0.005;0.002	T	0.17961	-1.0352	10	0.59425	D	0.04	-1.4448	3.388	0.07278	0.2815:0.1623:0.0:0.5562	.	1407;1413	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	C	1413;1452;1435;1413	ENSP00000380897:Y1413C;ENSP00000437849:Y1452C;ENSP00000256552:Y1435C	ENSP00000256552:Y1435C	Y	-	2	0	TRPM1	29081891	0.817000	0.29147	0.005000	0.12908	0.097000	0.18754	0.076000	0.14712	-0.064000	0.13043	-0.280000	0.10049	TAT		0.393	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		37	74	0	0	0	0	37	74				
ZSCAN2	54993	broad.mit.edu	37	15	85164140	85164140	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr15:85164140C>T	ENST00000448803.2	+	3	1006	c.714C>T	c.(712-714)atC>atT	p.I238I	ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000358472.3_Silent_p.I88I|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000327179.6_Silent_p.I237I|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000546148.1_Silent_p.I238I	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	238					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I238I(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCCACCTCATCACACACGAGA	0.493																																						uc002bkr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(712-714)ATC>ATT		zinc finger protein 29 isoform 1							93.0	97.0	96.0					15																	85164140		2203	4299	6502	SO:0001819	synonymous_variant	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85164140C>T	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.714C>T	15.37:g.85164140C>T						ZSCAN2_uc010bmz.1_Silent_p.I236I|ZSCAN2_uc010bna.2_Silent_p.I88I|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	p.I238I	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	3	940	+			238			C2H2-type 1.		A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP	ENST00000448803.2	37	c.714C>T	CCDS10329.2																																																																																				0.493	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		10	74	0	0	0	0	10	74				
VPS33B	26276	broad.mit.edu	37	15	91544674	91544674	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr15:91544674A>C	ENST00000333371.3	-	19	1777	c.1424T>G	c.(1423-1425)tTc>tGc	p.F475C	VPS33B_ENST00000535843.1_Missense_Mutation_p.F384C|VPS33B_ENST00000535906.1_Missense_Mutation_p.F448C	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	475					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CAGAGAACTGAAGGCATCAGT	0.463																																						uc002bqp.1		NA																	0				ovary(2)	2						c.(1423-1425)TTC>TGC		vacuolar protein sorting 33B (yeast homolog))							119.0	108.0	111.0					15																	91544674		2198	4298	6496	SO:0001583	missense	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91544674A>C	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.1424T>G	15.37:g.91544674A>C	ENSP00000327650:p.Phe475Cys					VPS33B_uc002bqq.1_Missense_Mutation_p.F384C|VPS33B_uc010uqu.1_Missense_Mutation_p.F448C	p.F475C	NM_018668	NP_061138	Q9H267	VP33B_HUMAN			19	1778	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		475					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	ENST00000333371.3	37	c.1424T>G	CCDS10369.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.388554	0.82902	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	T;T;T	0.57907	0.37;0.37;0.96	5.89	5.89	0.94794	.	0.053430	0.85682	D	0.000000	T	0.66567	0.2802	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.995;0.997	T	0.64504	-0.6392	10	0.38643	T	0.18	-10.8253	16.0173	0.80450	1.0:0.0:0.0:0.0	.	448;475	F5H008;Q9H267	.;VP33B_HUMAN	C	475;448;384;430	ENSP00000327650:F475C;ENSP00000444053:F448C;ENSP00000446267:F384C	ENSP00000327650:F475C	F	-	2	0	VPS33B	89345678	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.006000	0.88564	2.254000	0.74563	0.529000	0.55759	TTC		0.463	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		7	65	0	0	0	0	7	65				
NSMCE1	197370	broad.mit.edu	37	16	27237111	27237111	+	Silent	SNP	G	G	A	rs371500174		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr16:27237111G>A	ENST00000361439.4	-	7	756	c.657C>T	c.(655-657)taC>taT	p.Y219Y	NSMCE1_ENST00000565384.1_5'UTR	NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	219					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|intracellular signal transduction (GO:0035556)|positive regulation of response to DNA damage stimulus (GO:2001022)|protein ubiquitination (GO:0016567)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)	7						TCGACTGGAAGTACTTGGCCA	0.612																																						uc002doi.1		NA																	0					0						c.(655-657)TAC>TAT		non-SMC element 1 homolog		G		0,4130		0,0,2065	64.0	72.0	69.0		657	-5.6	0.9	16		69	2,8404		0,2,4201	no	coding-synonymous	NSMCE1	NM_145080.3		0,2,6266	AA,AG,GG		0.0238,0.0,0.016		219/267	27237111	2,12534	2065	4203	6268	SO:0001819	synonymous_variant	197370				DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding	g.chr16:27237111G>A	AF161451	CCDS10628.2	16p12.1	2010-03-23	2006-07-05		ENSG00000169189	ENSG00000169189			29897	protein-coding gene	gene with protein product						11927594	Standard	XM_005255163		Approved	NSE1	uc002doi.1	Q8WV22	OTTHUMG00000131674	ENST00000361439.4:c.657C>T	16.37:g.27237111G>A						NSMCE1_uc002doj.1_RNA	p.Y219Y	NM_145080	NP_659547	Q8WV22	NSE1_HUMAN			7	755	-			219			NSE1-type.		D3DWF6|Q9P045|Q9P049	Silent	SNP	ENST00000361439.4	37	c.657C>T	CCDS10628.2																																																																																				0.612	NSMCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254577.3	NM_145080		20	48	0	0	0	0	20	48				
MMP2	4313	broad.mit.edu	37	16	55539340	55539340	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr16:55539340T>C	ENST00000219070.4	+	13	2478	c.1969T>C	c.(1969-1971)Tgg>Cgg	p.W657R	MMP2_ENST00000543485.1_Missense_Mutation_p.W581R|MMP2_ENST00000570308.1_Missense_Mutation_p.W581R|MMP2_ENST00000437642.2_Missense_Mutation_p.W607R	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	657	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	CAAATCCGACTGGCTAGGCTG	0.567																																						uc002ehz.3		NA																	0				large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(1969-1971)TGG>CGG		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						121.0	120.0	120.0					16																	55539340		2198	4300	6498	SO:0001583	missense	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55539340T>C		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1969T>C	16.37:g.55539340T>C	ENSP00000219070:p.Trp657Arg					MMP2_uc010vhd.1_Missense_Mutation_p.W581R|MMP2_uc010ccc.2_Missense_Mutation_p.W607R|MMP2_uc002eia.3_Missense_Mutation_p.W154R	p.W657R	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	13	2280	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	657			Required for inhibitor TIMP2 binding.|Hemopexin-like 4.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.1969T>C	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096494	0.76870	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.11930	2.73;2.73;2.73	5.38	5.38	0.77491	Hemopexin/matrixin (2);	0.054669	0.85682	D	0.000000	T	0.45256	0.1333	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	T	0.55366	-0.8152	10	0.72032	D	0.01	.	14.3832	0.66926	0.0:0.0:0.0:1.0	.	607;657	E9PE45;P08253	.;MMP2_HUMAN	R	657;581;607	ENSP00000219070:W657R;ENSP00000444143:W581R;ENSP00000394237:W607R	ENSP00000219070:W657R	W	+	1	0	MMP2	54096841	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.060000	0.76692	2.050000	0.60909	0.460000	0.39030	TGG		0.567	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			8	175	0	0	0	0	8	175				
NOB1	28987	broad.mit.edu	37	16	69782153	69782153	+	Missense_Mutation	SNP	C	C	T	rs199699618		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr16:69782153C>T	ENST00000268802.5	-	7	835	c.806G>A	c.(805-807)cGc>cAc	p.R269H		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	269					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCCATGGCAGCGCAAGATGTA	0.522																																						uc002exs.2		NA																	0					0						c.(805-807)CGC>CAC		nin one binding protein							66.0	59.0	61.0					16																	69782153		2198	4300	6498	SO:0001583	missense	28987					nucleus	metal ion binding|protein binding	g.chr16:69782153C>T	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.806G>A	16.37:g.69782153C>T	ENSP00000268802:p.Arg269His						p.R269H	NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN			7	822	-			269					Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Missense_Mutation	SNP	ENST00000268802.5	37	c.806G>A	CCDS10884.1	.	.	.	.	.	.	.	.	.	.	C	34	5.363567	0.95877	.	.	ENSG00000141101	ENST00000268802	T	0.44083	0.93	5.23	5.23	0.72850	Nin one binding (NOB1) Zn-ribbon-like (1);	0.000000	0.85682	D	0.000000	T	0.73063	0.3539	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79424	-0.1809	9	.	.	.	.	18.7673	0.91878	0.0:1.0:0.0:0.0	.	269	Q9ULX3	NOB1_HUMAN	H	269	ENSP00000268802:R269H	.	R	-	2	0	NOB1	68339654	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.335000	0.79234	2.589000	0.87451	0.555000	0.69702	CGC		0.522	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		5	41	0	0	0	0	5	41				
CNTNAP4	85445	broad.mit.edu	37	16	76572217	76572217	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr16:76572217C>G	ENST00000476707.1	+	18	3348	c.3209C>G	c.(3208-3210)tCt>tGt	p.S1070C	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.S1066C|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S994C|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S1018C|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1067	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GAATACCTTTCTGTGATCATT	0.358																																						uc002feu.1		NA																	0				ovary(1)|pancreas(1)	2						c.(3199-3201)TCT>TGT		cell recognition protein CASPR4 isoform 1							96.0	92.0	93.0					16																	76572217		1833	4090	5923	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76572217C>G	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3209C>G	16.37:g.76572217C>G	ENSP00000417628:p.Ser1070Cys					CNTNAP4_uc002fev.1_Missense_Mutation_p.S931C|CNTNAP4_uc010chb.1_Missense_Mutation_p.S994C|CNTNAP4_uc002fex.1_Missense_Mutation_p.S1070C	p.S1067C	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			21	3585	+			1067			Extracellular (Potential).|Laminin G-like 4.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.3200C>G		.	.	.	.	.	.	.	.	.	.	C	16.80	3.223497	0.58668	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.35	5.35	0.76521	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.35320	N	0.003283	T	0.72228	0.3434	.	.	.	0.48762	D	0.9997	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.981;0.981;1.0	T	0.75377	-0.3339	9	0.87932	D	0	.	19.2614	0.93970	0.0:1.0:0.0:0.0	.	994;1070;1067	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	C	1066;1018;994;1070	ENSP00000306893:S1066C;ENSP00000439733:S1018C;ENSP00000418741:S994C;ENSP00000417628:S1070C	ENSP00000306893:S1066C	S	+	2	0	CNTNAP4	75129718	1.000000	0.71417	0.938000	0.37757	0.284000	0.27059	6.985000	0.76193	2.769000	0.95229	0.655000	0.94253	TCT		0.358	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		17	125	0	0	0	0	17	125				
JPH3	57338	broad.mit.edu	37	16	87724057	87724057	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr16:87724057C>T	ENST00000284262.2	+	4	2333	c.2091C>T	c.(2089-2091)ttC>ttT	p.F697F	JPH3_ENST00000563609.1_3'UTR	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	697					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		ACTTGACCTTCTCCCCGCCCC	0.672																																						uc002fkd.2		NA																	0				ovary(1)|pancreas(1)	2						c.(2089-2091)TTC>TTT		junctophilin 3							15.0	13.0	14.0					16																	87724057		2179	4283	6462	SO:0001819	synonymous_variant	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87724057C>T	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.2091C>T	16.37:g.87724057C>T						JPH3_uc010vou.1_RNA	p.F697F	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	4	2345	+			697			Cytoplasmic (Potential).		D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	ENST00000284262.2	37	c.2091C>T	CCDS10962.1																																																																																				0.672	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			8	6	0	0	0	0	8	6				
TP53	7157	broad.mit.edu	37	17	7578478	7578478	+	Missense_Mutation	SNP	G	G	T	rs137852790|rs137852791		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:7578478G>T	ENST00000269305.4	-	5	641	c.452C>A	c.(451-453)cCc>cAc	p.P151H	TP53_ENST00000420246.2_Missense_Mutation_p.P151H|TP53_ENST00000455263.2_Missense_Mutation_p.P151H|TP53_ENST00000445888.2_Missense_Mutation_p.P151H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.P151H|TP53_ENST00000359597.4_Missense_Mutation_p.P151H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874). {ECO:0000269|PubMed:7682763}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P151H(31)|p.P151R(9)|p.0?(8)|p.P151L(7)|p.T150fs*16(6)|p.?(5)|p.P58H(2)|p.P19H(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P58R(1)|p.Q144_G154del11(1)|p.P19R(1)|p.Q144fs*16(1)|p.P152fs*14(1)|p.P151fs*30(1)|p.T18fs*16(1)|p.T150_P151delTP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCGGGCGGGGGTGTGGAATC	0.607		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		90	Substitution - Missense(53)|Deletion - Frameshift(14)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(2)	p.P151S(61)|p.P151H(25)|p.P151T(13)|p.P151P(12)|p.P151A(8)|p.0?(7)|p.P151fs*30(7)|p.P151L(6)|p.P151R(6)|p.T150fs*16(3)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*28(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152fs*14(1)|p.T150_P151delTP(1)	lung(17)|large_intestine(13)|ovary(10)|skin(8)|oesophagus(8)|breast(6)|stomach(5)|haematopoietic_and_lymphoid_tissue(5)|central_nervous_system(4)|bone(4)|upper_aerodigestive_tract(3)|soft_tissue(2)|urinary_tract(2)|liver(2)|vulva(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(451-453)CCC>CAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							54.0	55.0	55.0					17																	7578478		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578478G>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.452C>A	17.37:g.7578478G>T	ENSP00000269305:p.Pro151His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.P151H|TP53_uc002gih.2_Missense_Mutation_p.P151H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P19H|TP53_uc010cng.1_Missense_Mutation_p.P19H|TP53_uc002gii.1_Missense_Mutation_p.P19H|TP53_uc010cnh.1_Missense_Mutation_p.P151H|TP53_uc010cni.1_Missense_Mutation_p.P151H|TP53_uc002gij.2_Missense_Mutation_p.P151H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P58H|TP53_uc002gio.2_Missense_Mutation_p.P19H|TP53_uc010vug.1_Missense_Mutation_p.P112H	p.P151H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	646	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	151		P -> R (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.452C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040562	0.55003	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99887	-7.53;-7.53;-7.53;-7.53;-7.53;-7.53;-7.53;-7.53;-7.53	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110207	0.64402	D	0.000007	D	0.99891	0.9948	M	0.91406	3.205	0.53688	D	0.999972	D;P;D;P;P;P;D	0.89917	0.99;0.807;1.0;0.793;0.948;0.84;1.0	P;P;D;P;P;P;D	0.97110	0.84;0.754;0.995;0.625;0.841;0.868;1.0	D	0.96236	0.9172	10	0.87932	D	0	-14.1156	12.4691	0.55777	0.0812:0.0:0.9188:0.0	.	112;151;151;58;151;151;151	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	151;151;151;151;151;151;140;58;19;58;19;151	ENSP00000410739:P151H;ENSP00000352610:P151H;ENSP00000269305:P151H;ENSP00000398846:P151H;ENSP00000391127:P151H;ENSP00000391478:P151H;ENSP00000425104:P19H;ENSP00000423862:P58H;ENSP00000424104:P151H	ENSP00000269305:P151H	P	-	2	0	TP53	7519203	1.000000	0.71417	0.974000	0.42286	0.058000	0.15608	6.711000	0.74675	1.515000	0.48885	0.655000	0.94253	CCC		0.607	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		39	24	1	0	4.07e-28	4.99e-28	39	24				
MYH8	4626	broad.mit.edu	37	17	10298660	10298660	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:10298660C>G	ENST00000403437.2	-	34	4846	c.4752G>C	c.(4750-4752)gaG>gaC	p.E1584D	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1584					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GGTCAATTTCCTCATCCTTTT	0.433									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(4750-4752)GAG>GAC		myosin, heavy chain 8, skeletal muscle,							164.0	138.0	147.0					17																	10298660		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10298660C>G		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4752G>C	17.37:g.10298660C>G	ENSP00000384330:p.Glu1584Asp					uc002gml.1_Intron	p.E1584D	NM_002472	NP_002463	P13535	MYH8_HUMAN			34	4847	-			1584			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4752G>C	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753275	0.69648	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.90324	-2.65	4.85	1.69	0.24217	Myosin tail (1);	0.000000	0.41938	U	0.000796	D	0.89760	0.6808	M	0.80616	2.505	0.39106	D	0.961374	B	0.33826	0.427	B	0.37888	0.26	D	0.88185	0.2873	10	0.66056	D	0.02	.	8.5057	0.33186	0.0:0.62:0.0:0.38	.	1584	P13535	MYH8_HUMAN	D	1584	ENSP00000384330:E1584D	ENSP00000252173:E1584D	E	-	3	2	MYH8	10239385	0.992000	0.36948	1.000000	0.80357	0.962000	0.63368	0.409000	0.21082	0.642000	0.30620	0.650000	0.86243	GAG		0.433	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		10	58	0	0	0	0	10	58				
CCL23	6368	broad.mit.edu	37	17	34340342	34340342	+	Silent	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:34340342G>T	ENST00000591423.1	-	4	322	c.258C>A	c.(256-258)ctC>ctA	p.L86L	CCL23_ENST00000293280.2_Silent_p.L103L|RP11-104J23.1_ENST00000588294.1_RNA|RP11-104J23.2_ENST00000590149.1_lincRNA|RP11-104J23.1_ENST00000590192.1_RNA	NM_145898.1	NP_665905.1	P55773	CCL23_HUMAN	chemokine (C-C motif) ligand 23	86					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|negative regulation of C-C chemokine binding (GO:2001264)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTTCTTGGTGAGGAAGCTAG	0.542																																						uc002hkt.1		NA																	0					0						c.(256-258)CTC>CTA		small inducible cytokine A23 isoform CKbeta8	Treprostinil(DB00374)						53.0	43.0	47.0					17																	34340342		2203	4300	6503	SO:0001819	synonymous_variant	6368				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding	g.chr17:34340342G>T	U58913	CCDS11305.1, CCDS59282.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000167236	ENSG00000274736		"""Chemokine ligands"", ""Endogenous ligands"""	10622	protein-coding gene	gene with protein product		602494	"""small inducible cytokine subfamily A (Cys-Cys), member 23"""	SCYA23		9104803, 10409433	Standard	XR_429910		Approved	Ckb-8, MPIF-1, MIP-3, CKb8	uc002hks.1	P55773	OTTHUMG00000188409	ENST00000591423.1:c.258C>A	17.37:g.34340342G>T						CCL23_uc002hks.1_Silent_p.L103L	p.L86L	NM_145898	NP_665905	P55773	CCL23_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	329	-		Ovarian(249;0.17)	86					B7ZKQ3|O00174|O75950|Q52LD4	Silent	SNP	ENST00000591423.1	37	c.258C>A	CCDS59282.1																																																																																				0.542	CCL23-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450228.1	NM_005064, NM_145898		9	15	1	0	7.48e-07	8.8e-07	9	15				
TTC25	83538	broad.mit.edu	37	17	40093075	40093075	+	RNA	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:40093075G>A	ENST00000591658.1	+	0	588							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CACCAAGGGAGAGCCCAAGTG	0.522																																						uc002hyj.3		NA																	0				ovary(1)	1						c.(520-522)GAG>AAG		tetratricopeptide repeat domain 25							87.0	89.0	88.0					17																	40093075		1889	4114	6003			83538					cytoplasm	protein binding	g.chr17:40093075G>A	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40093075G>A						TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Missense_Mutation_p.E174K	p.E174K	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN			5	609	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)	174					Q6NX40|Q6PJ04|Q9H0K5	Missense_Mutation	SNP	ENST00000591658.1	37	c.520G>A		.	.	.	.	.	.	.	.	.	.	G	12.40	1.927648	0.34002	.	.	ENSG00000204815	ENST00000377540	.	.	.	5.51	4.55	0.56014	.	0.304186	0.37437	N	0.002093	T	0.29321	0.0730	L	0.34521	1.04	0.31181	N	0.7020569999999999	B;B	0.24721	0.021;0.11	B;B	0.22386	0.006;0.039	T	0.29761	-1.0001	8	0.07644	T	0.81	-39.5325	6.4374	0.21831	0.072:0.1818:0.6254:0.1208	.	174;174	C9JGW6;Q96NG3	.;TTC25_HUMAN	K	174	.	ENSP00000366763:E174K	E	+	1	0	AC091172.1	37346601	0.999000	0.42202	0.044000	0.18714	0.062000	0.15995	3.296000	0.51802	1.577000	0.49804	0.561000	0.74099	GAG		0.522	TTC25-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000449237.1	NM_031421		26	68	0	0	0	0	26	68				
TBX21	30009	broad.mit.edu	37	17	45820480	45820480	+	Silent	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:45820480G>A	ENST00000177694.1	+	3	901	c.690G>A	c.(688-690)gcG>gcA	p.A230A		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	230					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACACAGGAGCGCACTGGATGC	0.552																																						uc002ilv.1		NA																	0					0						c.(688-690)GCG>GCA		T-box 21							84.0	78.0	80.0					17																	45820480		2203	4300	6503	SO:0001819	synonymous_variant	30009				lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr17:45820480G>A	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.690G>A	17.37:g.45820480G>A							p.A230A	NM_013351	NP_037483	Q9UL17	TBX21_HUMAN			3	901	+			230			T-box.			Silent	SNP	ENST00000177694.1	37	c.690G>A	CCDS11514.1																																																																																				0.552	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		34	56	0	0	0	0	34	56				
TUBD1	51174	broad.mit.edu	37	17	57958324	57958324	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:57958324C>T	ENST00000592426.1	-	3	468	c.468G>A	c.(466-468)caG>caA	p.Q156Q	TUBD1_ENST00000325752.3_Silent_p.Q156Q|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000376094.4_Silent_p.Q156Q|TUBD1_ENST00000340993.6_Silent_p.Q156Q|TUBD1_ENST00000394239.3_Silent_p.Q156Q|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000591611.1_Intron			Q9UJT1	TBD_HUMAN	tubulin, delta 1	156					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	CTTCTAAATTCTGTGTAACGA	0.383																																						uc002ixw.1		NA																	0				ovary(1)	1						c.(466-468)CAG>CAA		delta-tubulin							200.0	186.0	190.0					17																	57958324		2203	4300	6503	SO:0001819	synonymous_variant	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57958324C>T	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.468G>A	17.37:g.57958324C>T						TUBD1_uc010ddf.1_Silent_p.Q156Q|TUBD1_uc010ddg.1_Silent_p.Q121Q|TUBD1_uc010ddh.1_Silent_p.Q37Q|TUBD1_uc010wok.1_Silent_p.Q156Q|TUBD1_uc002ixx.1_Silent_p.Q156Q|TUBD1_uc010wol.1_Intron|TUBD1_uc010ddi.1_Intron	p.Q156Q	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		4	746	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		156					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Silent	SNP	ENST00000592426.1	37	c.468G>A	CCDS11620.1																																																																																				0.383	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		21	93	0	0	0	0	21	93				
CASKIN2	57513	broad.mit.edu	37	17	73498721	73498721	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:73498721C>T	ENST00000321617.3	-	18	3020	c.2434G>A	c.(2434-2436)Gag>Aag	p.E812K	CASKIN2_ENST00000433559.2_Missense_Mutation_p.E730K	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	812	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTCCCCCTCAGCATCCCCC	0.692																																						uc002joc.2		NA																	0				pancreas(1)	1						c.(2434-2436)GAG>AAG		cask-interacting protein 2 isoform a							19.0	21.0	21.0					17																	73498721		2195	4298	6493	SO:0001583	missense	57513					cytoplasm		g.chr17:73498721C>T	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2434G>A	17.37:g.73498721C>T	ENSP00000325355:p.Glu812Lys					CASKIN2_uc010wsc.1_Missense_Mutation_p.E730K	p.E812K	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	2984	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		812			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Missense_Mutation	SNP	ENST00000321617.3	37	c.2434G>A	CCDS11723.1	.	.	.	.	.	.	.	.	.	.	C	9.258	1.042499	0.19748	.	.	ENSG00000177303	ENST00000321617;ENST00000433559	T;T	0.75050	-0.9;-0.72	4.87	3.9	0.45041	.	0.170627	0.27951	N	0.017188	T	0.66771	0.2823	L	0.43923	1.385	0.80722	D	1	B	0.23058	0.079	B	0.20767	0.031	T	0.66889	-0.5809	10	0.87932	D	0	.	12.3999	0.55407	0.1693:0.8307:0.0:0.0	.	812	Q8WXE0	CSKI2_HUMAN	K	812;730	ENSP00000325355:E812K;ENSP00000406963:E730K	ENSP00000325355:E812K	E	-	1	0	CASKIN2	71010316	0.973000	0.33851	0.056000	0.19401	0.004000	0.04260	3.170000	0.50816	1.278000	0.44430	-0.448000	0.05591	GAG		0.692	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		10	3	0	0	0	0	10	3				
TMC8	147138	broad.mit.edu	37	17	76134756	76134756	+	Missense_Mutation	SNP	G	G	C	rs535003756		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:76134756G>C	ENST00000318430.5	+	14	2140	c.1766G>C	c.(1765-1767)cGt>cCt	p.R589P	TMC8_ENST00000591144.1_3'UTR|TMC8_ENST00000589691.1_Missense_Mutation_p.R366P	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	589					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			ATTGGCCAGCGTGCCCTCCAC	0.667																																						uc002jup.2		NA																	0					0						c.(1765-1767)CGT>CCT		transmembrane channel-like 8							55.0	55.0	55.0					17																	76134756		2203	4300	6503	SO:0001583	missense	147138	Epidermodysplasia_Verruciformis_Familial_Clustering_of				endoplasmic reticulum membrane|integral to membrane		g.chr17:76134756G>C	AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.1766G>C	17.37:g.76134756G>C	ENSP00000325561:p.Arg589Pro					TMC8_uc002juq.2_Missense_Mutation_p.R366P|TMC8_uc002jur.1_Missense_Mutation_p.V39L	p.R589P	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		14	2148	+			589			Lumenal (Potential).		Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	ENST00000318430.5	37	c.1766G>C	CCDS32749.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603395	0.28534	.	.	ENSG00000167895	ENST00000318430	T	0.75477	-0.94	4.88	-1.39	0.08997	.	1.066010	0.07141	N	0.847262	T	0.66137	0.2759	M	0.65975	2.015	0.09310	N	0.999999	P	0.43578	0.811	B	0.39299	0.296	T	0.56080	-0.8038	10	0.32370	T	0.25	-4.7081	3.2496	0.06810	0.4305:0.0:0.303:0.2666	.	589	Q8IU68	TMC8_HUMAN	P	589	ENSP00000325561:R589P	ENSP00000325561:R589P	R	+	2	0	TMC8	73646351	0.000000	0.05858	0.191000	0.23289	0.900000	0.52787	-1.462000	0.02364	0.115000	0.18071	0.591000	0.81541	CGT		0.667	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			7	65	0	0	0	0	7	65				
CBX2	84733	broad.mit.edu	37	17	77753183	77753183	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:77753183G>T	ENST00000310942.4	+	3	243	c.139G>T	c.(139-141)Gag>Tag	p.E47*	CBX2_ENST00000269399.5_Nonsense_Mutation_p.E47*	NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	47	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAGCCGGAGGAGAACATCCT	0.632																																						uc002jxc.2		NA																	0					0						c.(139-141)GAG>TAG		chromobox homolog 2 isoform 1							54.0	48.0	50.0					17																	77753183		2203	4300	6503	SO:0001587	stop_gained	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77753183G>T	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.139G>T	17.37:g.77753183G>T	ENSP00000308750:p.Glu47*					CBX2_uc002jxb.1_Nonsense_Mutation_p.E47*	p.E47*	NM_005189	NP_005180	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	181	+			47			Chromo.		Q0VDA5|Q9BTB1	Nonsense_Mutation	SNP	ENST00000310942.4	37	c.139G>T	CCDS32757.1	.	.	.	.	.	.	.	.	.	.	G	37	6.296603	0.97453	.	.	ENSG00000173894	ENST00000310942;ENST00000269399	.	.	.	4.76	4.76	0.60689	.	0.164042	0.51477	D	0.000082	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	0.5304	16.5329	0.84366	0.0:0.0:1.0:0.0	.	.	.	.	X	47	.	ENSP00000269399:E47X	E	+	1	0	CBX2	75367778	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.349000	0.97066	2.185000	0.69588	0.462000	0.41574	GAG		0.632	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		19	12	1	0	8.01e-06	9.35e-06	19	12				
RNF213	57674	broad.mit.edu	37	17	78348328	78348328	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr17:78348328G>A	ENST00000582970.1	+	50	13156	c.13013G>A	c.(13012-13014)cGt>cAt	p.R4338H	CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2411H|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4387H	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4338					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGGCTCTCCGTGATGCTGTG	0.577																																						uc002jyh.1		NA																	0				ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21						c.(7231-7233)CGT>CAT		ring finger protein 213							133.0	105.0	114.0					17																	78348328		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78348328G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13013G>A	17.37:g.78348328G>A	ENSP00000464087:p.Arg4338His					uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.R793H	p.R2411H	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		25	7455	+	all_neural(118;0.0538)		Error:Variant_position_missing_in_Q9HCF4_after_alignment					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.7232G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164767	0.78339	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.35236	1.32	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	M	0.84219	2.685	0.35619	D	0.809306	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76310	-0.3006	10	0.72032	D	0.01	.	16.3893	0.83528	0.0:0.0:1.0:0.0	.	4387;2411	C9JCP4;Q63HN8	.;RN213_HUMAN	H	4338;4387;2411	ENSP00000338218:R2411H	ENSP00000338218:R2411H	R	+	2	0	RNF213	75962923	1.000000	0.71417	0.113000	0.21522	0.520000	0.34377	7.735000	0.84939	2.357000	0.79964	0.561000	0.74099	CGT		0.577	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		41	28	0	0	0	0	41	28				
DSG4	147409	broad.mit.edu	37	18	28968849	28968849	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr18:28968849G>A	ENST00000308128.4	+	5	520	c.385G>A	c.(385-387)Gct>Act	p.A129T	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.A129T|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	129	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		Missing (in HYPT6). {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570}.		anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTATTGCCGGGCTCTGAATTC	0.368																																						uc002kwq.2		NA																	0				central_nervous_system(5)|ovary(3)	8	GRCh37	CM054662	DSG4	M		c.(385-387)GCT>ACT		desmoglein 4 isoform 2 preproprotein							101.0	107.0	105.0					18																	28968849		2202	4299	6501	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28968849G>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.385G>A	18.37:g.28968849G>A	ENSP00000311859:p.Ala129Thr					DSG4_uc002kwr.2_Missense_Mutation_p.A129T	p.A129T	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		5	520	+			129		Missing (in LAH1).	Cadherin 1.|Extracellular (Potential).		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.385G>A	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029177	0.93518	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.71461	-0.57;-0.57	6.11	6.11	0.99139	Cadherin (4);Cadherin-like (1);	0.480683	0.15532	N	0.257417	D	0.89213	0.6651	M	0.93197	3.39	0.48975	D	0.999736	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90235	0.4282	10	0.87932	D	0	.	18.9147	0.92501	0.0:0.0:1.0:0.0	.	129;129	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	T	129	ENSP00000311859:A129T;ENSP00000352785:A129T	ENSP00000311859:A129T	A	+	1	0	DSG4	27222847	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.969000	0.63735	2.906000	0.99361	0.655000	0.94253	GCT		0.368	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		32	71	0	0	0	0	32	71				
ANGPTL4	51129	broad.mit.edu	37	19	8436124	8436124	+	Splice_Site	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:8436124G>A	ENST00000301455.2	+	6	928		c.e6-1		ANGPTL4_ENST00000541807.1_Splice_Site|ANGPTL4_ENST00000393962.2_Splice_Site	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4						angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular lipid metabolic process (GO:0044255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of lipoprotein lipase activity (GO:0051005)|positive regulation of angiogenesis (GO:0045766)|protein homooligomerization (GO:0051260)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	enzyme inhibitor activity (GO:0004857)			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						TCCCACTCCAGGCGAGTTCTG	0.647																																						uc002mjq.1		NA																	0				ovary(1)	1						c.e6-1		angiopoietin-like 4 protein isoform a precursor							35.0	38.0	37.0					19																	8436124		2203	4300	6503	SO:0001630	splice_region_variant	51129				angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding	g.chr19:8436124G>A	AF202636	CCDS12200.1, CCDS42493.1	19p13.3	2013-10-07				ENSG00000167772		"""Fibrinogen C domain containing"""	16039	protein-coding gene	gene with protein product	"""fasting-induced adipose factor"", ""hepatic angiopoietin-related protein"", ""PPARG angiopoietin related protein"", ""hepatic fibrinogen/angiopoietin-related protein"", ""peroxisome proliferator-activated receptor (PPAR) gamma induced angiopoietin-related protein"", ""angiopoietin-related protein 4"""	605910				10698685, 10866690, 23960078	Standard	NM_139314		Approved	pp1158, PGAR, ARP4, HFARP, FIAF, NL2	uc002mjq.1	Q9BY76		ENST00000301455.2:c.758-1G>A	19.37:g.8436124G>A						ANGPTL4_uc002mjr.1_Splice_Site_p.G215_splice|ANGPTL4_uc010xkc.1_Splice_Site_p.G86_splice	p.G253_splice	NM_139314	NP_647475	Q9BY76	ANGL4_HUMAN			6	953	+								A8MY84|B4E089|D6W670|F5H0I2|Q53HQ6|Q53HU1|Q6UXN0|Q9HBV4|Q9NZU4|Q9Y5B3	Splice_Site	SNP	ENST00000301455.2	37	c.758_splice	CCDS12200.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740056	0.69304	.	.	ENSG00000167772	ENST00000301455;ENST00000393962;ENST00000541807	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8085	0.85712	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANGPTL4	8342124	1.000000	0.71417	0.856000	0.33681	0.706000	0.40770	9.238000	0.95380	2.363000	0.80096	0.555000	0.69702	.		0.647	ANGPTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460322.1	NM_139314	Intron	17	39	0	0	0	0	17	39				
NOTCH3	4854	broad.mit.edu	37	19	15272483	15272483	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:15272483C>A	ENST00000263388.2	-	33	6031	c.5956G>T	c.(5956-5958)Gag>Tag	p.E1986*		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1986					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TTGGCAGCCTCATAGCTGCCC	0.627																																						uc002nan.2		NA																	0				lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(5956-5958)GAG>TAG		Notch homolog 3 precursor							29.0	27.0	28.0					19																	15272483		2200	4298	6498	SO:0001587	stop_gained	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15272483C>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5956G>T	19.37:g.15272483C>A	ENSP00000263388:p.Glu1986*						p.E1986*	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		33	6032	-			1986			ANK 5.|Cytoplasmic (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Nonsense_Mutation	SNP	ENST00000263388.2	37	c.5956G>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	46	12.829807	0.99699	.	.	ENSG00000074181	ENST00000263388	.	.	.	4.03	4.03	0.46877	.	0.000000	0.32719	N	0.005728	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	15.5047	0.75728	0.0:1.0:0.0:0.0	.	.	.	.	X	1986	.	ENSP00000263388:E1986X	E	-	1	0	NOTCH3	15133483	1.000000	0.71417	0.929000	0.37066	0.979000	0.70002	5.926000	0.70070	2.260000	0.74910	0.650000	0.86243	GAG		0.627	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		3	13	1	0	0.004672	0.00504954	3	13				
ZNF626	199777	broad.mit.edu	37	19	20807482	20807482	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:20807482C>A	ENST00000601440.1	-	4	1347	c.1201G>T	c.(1201-1203)Gaa>Taa	p.E401*	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TTGCCACATTCTTCACATTTG	0.398																																						uc002npb.1		NA																	0				skin(1)	1						c.(1201-1203)GAA>TAA		zinc finger protein 626 isoform 1							59.0	63.0	61.0					19																	20807482		2153	4277	6430	SO:0001587	stop_gained	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807482C>A	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1201G>T	19.37:g.20807482C>A	ENSP00000469958:p.Glu401*					ZNF626_uc002npc.1_Nonsense_Mutation_p.E325*	p.E401*	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			4	1351	-			401			C2H2-type 9.		Q8N8T4|Q96QM1	Nonsense_Mutation	SNP	ENST00000601440.1	37	c.1201G>T	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	3.945	-0.013350	0.07727	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	7.1275	0.25479	0.0:1.0:0.0:0.0	.	.	.	.	X	401;325;401	.	ENSP00000445201:E401X	E	-	1	0	ZNF626	20599322	0.000000	0.05858	0.018000	0.16275	0.018000	0.09664	-1.183000	0.03079	0.284000	0.22305	0.289000	0.19496	GAA		0.398	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		22	70	1	0	2.28e-05	2.62e-05	22	70				
ZNF208	7757	broad.mit.edu	37	19	22154781	22154781	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:22154781G>T	ENST00000397126.4	-	4	3203	c.3055C>A	c.(3055-3057)Cat>Aat	p.H1019N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1019					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTTCTTATGTTCCATAAGG	0.408																																						uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(2671-2673)CAT>AAT		zinc finger protein 208							97.0	103.0	101.0					19																	22154781		2119	4243	6362	SO:0001583	missense	7757							g.chr19:22154781G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3055C>A	19.37:g.22154781G>T	ENSP00000380315:p.His1019Asn					ZNF208_uc002nqo.1_Intron	p.H891N	NM_007153	NP_009084					6	2820	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2671C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528385	0.44969	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	D	0.86865	-2.18	2.58	2.58	0.30949	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92205	0.7528	.	.	.	0.23192	N	0.998146	D	0.89917	1.0	D	0.73708	0.981	D	0.83797	0.0234	8	0.87932	D	0	.	11.941	0.52901	0.0:0.0:1.0:0.0	.	891	O43345	ZN208_HUMAN	N	1019;891	ENSP00000380315:H1019N	ENSP00000380315:H1019N	H	-	1	0	ZNF208	21946621	1.000000	0.71417	0.003000	0.11579	0.084000	0.17831	4.858000	0.62947	1.024000	0.39682	0.289000	0.19496	CAT		0.408	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		20	62	1	0	5.35e-07	6.32e-07	20	62				
EID2	163126	broad.mit.edu	37	19	40030624	40030624	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:40030624C>T	ENST00000390658.2	-	1	246	c.96G>A	c.(94-96)cgG>cgA	p.R32R		NM_153232.3	NP_694964.3			EP300 interacting inhibitor of differentiation 2											large_intestine(2)|lung(1)|urinary_tract(1)	4	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			GGGCCGGCTCCCGCCTCCCGC	0.751																																						uc002oma.2		NA																	0					0						c.(94-96)CGG>CGA		CREBBP/EP300 inhibitor 2							12.0	14.0	13.0					19																	40030624		1239	2756	3995	SO:0001819	synonymous_variant	163126				cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly	nucleus	SMAD binding	g.chr19:40030624C>T	BC030137	CCDS12540.2	19q13.2	2008-10-24	2006-10-12	2006-10-12	ENSG00000176396	ENSG00000176396			28292	protein-coding gene	gene with protein product		609773	"""CREBBP/EP300 inhibitory protein 2"", ""CREBBP/EP300 inhibitor 2"""	CRI2		14585496	Standard	NM_153232		Approved	EID-2, MGC20452	uc002oma.3	Q8N6I1	OTTHUMG00000074073	ENST00000390658.2:c.96G>A	19.37:g.40030624C>T							p.R32R	NM_153232	NP_694964	Q8N6I1	EID2_HUMAN	Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		1	215	-	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		32						Silent	SNP	ENST00000390658.2	37	c.96G>A	CCDS12540.2																																																																																				0.751	EID2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157251.1	NM_153232		15	23	0	0	0	0	15	23				
ZNF574	64763	broad.mit.edu	37	19	42584413	42584413	+	Missense_Mutation	SNP	G	G	A	rs147085110		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:42584413G>A	ENST00000600245.1	+	2	2310	c.1655G>A	c.(1654-1656)cGg>cAg	p.R552Q	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.R642Q|ZNF574_ENST00000359044.4_Missense_Mutation_p.R552Q			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	552					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CGGCCCTACCGGTGTGGGGAC	0.657																																						uc002osm.3		NA																	0					0						c.(1654-1656)CGG>CAG		zinc finger protein 574							85.0	90.0	88.0					19																	42584413		2203	4300	6503	SO:0001583	missense	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584413G>A	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1655G>A	19.37:g.42584413G>A	ENSP00000469029:p.Arg552Gln					ZNF574_uc002osk.3_Missense_Mutation_p.R642Q	p.R552Q	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN			2	1824	+		Prostate(69;0.059)	552			C2H2-type 12.		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	c.1655G>A	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.304464	0.23736	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.16457	2.34;2.34	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.079098	0.48767	D	0.000162	T	0.15478	0.0373	N	0.02916	-0.46	0.31723	N	0.638086	D;D	0.89917	0.999;1.0	D;D	0.65773	0.938;0.928	T	0.14337	-1.0476	10	0.26408	T	0.33	-19.0742	11.0304	0.47769	0.0869:0.0:0.9131:0.0	.	552;641	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	Q	642;552;159	ENSP00000222339:R642Q;ENSP00000351939:R552Q	ENSP00000222339:R642Q	R	+	2	0	ZNF574	47276253	0.000000	0.05858	0.696000	0.30242	0.235000	0.25334	0.812000	0.27211	2.418000	0.82041	0.650000	0.86243	CGG		0.657	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		51	87	0	0	0	0	51	87				
TMEM145	284339	broad.mit.edu	37	19	42819348	42819348	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:42819348G>A	ENST00000301204.3	+	7	555	c.514G>A	c.(514-516)Gag>Aag	p.E172K	TMEM145_ENST00000598766.1_Missense_Mutation_p.E196K	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	172					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				AGGGATCCTGGAGACAGATGT	0.532																																						uc002otk.1		NA																	0					0						c.(514-516)GAG>AAG		transmembrane protein 145							179.0	149.0	159.0					19																	42819348		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42819348G>A	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.514G>A	19.37:g.42819348G>A	ENSP00000301204:p.Glu172Lys						p.E172K	NM_173633	NP_775904	Q8NBT3	TM145_HUMAN			7	566	+		Prostate(69;0.00682)	172						Missense_Mutation	SNP	ENST00000301204.3	37	c.514G>A	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174483	0.57692	.	.	ENSG00000167619	ENST00000301204	T	0.44881	0.91	4.03	4.03	0.46877	Rhodopsin-like GPCR transmembrane domain (1);	0.139072	0.45867	D	0.000329	T	0.45796	0.1360	L	0.49455	1.56	0.51233	D	0.999914	D	0.59767	0.986	P	0.56612	0.802	T	0.36553	-0.9743	10	0.07644	T	0.81	-23.3533	12.0324	0.53406	0.0:0.0:1.0:0.0	.	172	Q8NBT3	TM145_HUMAN	K	172	ENSP00000301204:E172K	ENSP00000301204:E172K	E	+	1	0	TMEM145	47511188	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	5.347000	0.65998	1.955000	0.56771	0.455000	0.32223	GAG		0.532	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		18	40	0	0	0	0	18	40				
ZNF845	91664	broad.mit.edu	37	19	53855637	53855637	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:53855637A>G	ENST00000595091.1	+	5	1928	c.1709A>G	c.(1708-1710)cAa>cGa	p.Q570R	ZNF845_ENST00000458035.1_Missense_Mutation_p.Q570R			Q96IR2	ZN845_HUMAN	zinc finger protein 845	570					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATTTACCATCAAGCAATCCAT	0.398																																						uc010ydv.1		NA																	0					0						c.(1708-1710)CAA>CGA		zinc finger protein 845							86.0	74.0	78.0					19																	53855637		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855637A>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1709A>G	19.37:g.53855637A>G	ENSP00000470005:p.Gln570Arg					ZNF845_uc010ydw.1_Missense_Mutation_p.Q570R	p.Q570R	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	1826	+			570			C2H2-type 13.			Missense_Mutation	SNP	ENST00000595091.1	37	c.1709A>G	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	A	3.764	-0.048982	0.07407	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.08282	3.11	1.62	1.62	0.23740	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07007	0.0178	L	0.43152	1.355	0.09310	N	1	B	0.17465	0.022	B	0.20955	0.032	T	0.38972	-0.9636	9	0.25751	T	0.34	.	4.3566	0.11181	0.8105:0.0:0.1895:0.0	.	570	Q96IR2	ZN845_HUMAN	R	570	ENSP00000388311:Q570R	ENSP00000412086:Q570R	Q	+	2	0	ZNF845	58547449	0.004000	0.15560	0.011000	0.14972	0.015000	0.08874	1.081000	0.30791	0.731000	0.32448	0.333000	0.21579	CAA		0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	41	0	0	0	0	4	41				
MBOAT7	79143	broad.mit.edu	37	19	54678113	54678113	+	Silent	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:54678113G>A	ENST00000245615.1	-	8	1524	c.1044C>T	c.(1042-1044)acC>acT	p.T348T	TMC4_ENST00000376591.4_5'Flank|TMC4_ENST00000476013.2_5'Flank|MBOAT7_ENST00000431666.2_Silent_p.T275T|MBOAT7_ENST00000338624.6_Silent_p.T275T|TMC4_ENST00000301187.4_5'Flank	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	348					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCAGCAGCATGGTCCAGGCGC	0.687																																					NSCLC(97;826 2151 10470 22540)	uc002qdq.2		NA																	0					0						c.(1042-1044)ACC>ACT		membrane bound O-acyltransferase domain							25.0	25.0	25.0					19																	54678113		2201	4297	6498	SO:0001819	synonymous_variant	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54678113G>A	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.1044C>T	19.37:g.54678113G>A						TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Silent_p.T32T|MBOAT7_uc010yem.1_Silent_p.T330T|MBOAT7_uc002qdr.2_Silent_p.T348T|MBOAT7_uc002qds.2_Silent_p.T275T|MBOAT7_uc010yen.1_Silent_p.T275T	p.T348T	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN			9	1310	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		348					A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Silent	SNP	ENST00000245615.1	37	c.1044C>T	CCDS12883.1	.	.	.	.	.	.	.	.	.	.	g	18.75	3.690506	0.68271	.	.	ENSG00000125505	ENST00000449249	.	.	.	4.54	3.48	0.39840	.	.	.	.	.	T	0.72162	0.3426	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75399	-0.3331	5	0.87932	D	0	-32.9884	12.7299	0.57193	0.0:0.0:0.8235:0.1765	.	.	.	.	L	121	.	ENSP00000406794:P121L	P	-	2	0	MBOAT7	59369925	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.373000	0.44266	0.986000	0.38683	0.556000	0.70494	CCA		0.687	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		11	25	0	0	0	0	11	25				
NLRP13	126204	broad.mit.edu	37	19	56424476	56424476	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:56424476C>T	ENST00000342929.3	-	5	706	c.707G>A	c.(706-708)aGg>aAg	p.R236K	NLRP13_ENST00000588751.1_Missense_Mutation_p.R236K	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	236	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AACCCCTGCCCTCCCCACCAA	0.507																																						uc010ygg.1		NA																	0				skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(706-708)AGG>AAG		NACHT, leucine rich repeat and PYD containing							114.0	115.0	115.0					19																	56424476		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56424476C>T	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.707G>A	19.37:g.56424476C>T	ENSP00000343891:p.Arg236Lys						p.R236K	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	732	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	236			NACHT.|ATP (Potential).		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.707G>A	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	8.527	0.870098	0.17322	.	.	ENSG00000173572	ENST00000342929	T	0.80738	-1.41	2.81	-5.62	0.02481	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.52613	0.1745	N	0.11927	0.2	0.09310	N	1	B	0.26147	0.143	B	0.27887	0.084	T	0.49908	-0.8889	9	0.09338	T	0.73	.	1.1117	0.01705	0.2332:0.2009:0.3564:0.2095	.	236	Q86W25	NAL13_HUMAN	K	236	ENSP00000343891:R236K	ENSP00000343891:R236K	R	-	2	0	NLRP13	61116288	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.740000	0.04861	-2.110000	0.00837	-0.194000	0.12790	AGG		0.507	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		4	130	0	0	0	0	4	130				
EPAS1	2034	broad.mit.edu	37	2	46605175	46605175	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:46605175C>T	ENST00000263734.3	+	10	1902	c.1392C>T	c.(1390-1392)gcC>gcT	p.A464A		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	464					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AGGCAGCTGCCCCGGGCAGCA	0.682																																						uc002ruv.2		NA																	0				ovary(1)|skin(1)	2						c.(1390-1392)GCC>GCT		endothelial PAS domain protein 1							17.0	15.0	16.0					2																	46605175		2187	4292	6479	SO:0001819	synonymous_variant	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46605175C>T	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.1392C>T	2.37:g.46605175C>T						EPAS1_uc002ruw.2_5'Flank	p.A464A	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		10	1880	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	464					Q86VA2|Q99630	Silent	SNP	ENST00000263734.3	37	c.1392C>T	CCDS1825.1																																																																																				0.682	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		3	11	0	0	0	0	3	11				
CCDC88A	55704	broad.mit.edu	37	2	55528370	55528370	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:55528370A>T	ENST00000436346.1	-	28	5557	c.4716T>A	c.(4714-4716)gaT>gaA	p.D1572E	CCDC88A_ENST00000263630.8_Missense_Mutation_p.D1544E|CCDC88A_ENST00000413716.2_Missense_Mutation_p.D1571E|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D1571E|CCDC88A_ENST00000422883.2_Missense_Mutation_p.D100E	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1572					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TACTAGAATCATCACTAACAC	0.308																																						uc002ryv.2		NA																	0				ovary(2)|skin(2)	4						c.(4711-4713)GAT>GAA		coiled-coil domain containing 88A isoform 1							108.0	96.0	100.0					2																	55528370		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55528370A>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.4716T>A	2.37:g.55528370A>T	ENSP00000410608:p.Asp1572Glu					CCDC88A_uc010yoz.1_Missense_Mutation_p.D1544E|CCDC88A_uc010ypa.1_Missense_Mutation_p.D1571E|CCDC88A_uc010fbw.2_Missense_Mutation_p.D100E|CCDC88A_uc002ryu.2_Missense_Mutation_p.D826E|CCDC88A_uc002rys.2_Missense_Mutation_p.D529E|CCDC88A_uc002ryw.2_Missense_Mutation_p.D855E|CCDC88A_uc010fby.1_Missense_Mutation_p.D423E	p.D1571E	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN			28	5555	-			1572					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.4713T>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	9.535|9.535|9.535	1.111732|1.111732|1.111732	0.20714|0.20714|0.20714	.|.|.	.|.|.	ENSG00000115355|ENSG00000115355|ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000422883;ENST00000412148;ENST00000413716;ENST00000426576|ENST00000444458|ENST00000456975	T;T;T;T;T;T|.|.	0.47177|.|.	2.54;2.6;2.76;0.85;2.55;1.47|.|.	5.04|5.04|5.04	2.66|2.66|2.66	0.31614|0.31614|0.31614	.|.|.	0.000000|.|.	0.46145|.|.	U|.|.	0.000301|.|.	T|T|.	0.16428|0.16428|.	0.0395|0.0395|.	N|N|N	0.02158|0.02158|0.02158	-0.66|-0.66|-0.66	0.32772|0.32772|0.32772	N|N|N	0.503677|0.503677|0.503677	B;D;D;D;B;B;D|.|.	0.67145|.|.	0.036;0.977;0.962;0.996;0.146;0.061;0.977|.|.	B;P;B;D;B;B;P|.|.	0.76071|.|.	0.041;0.517;0.318;0.987;0.09;0.067;0.517|.|.	T|T|.	0.26052|0.26052|.	-1.0114|-1.0114|.	10|5|.	0.02654|.|.	T|.|.	1|.|.	-21.4259|-21.4259|-21.4259	8.9935|8.9935|8.9935	0.36039|0.36039|0.36039	0.8476:0.0:0.1524:0.0|0.8476:0.0:0.1524:0.0|0.8476:0.0:0.1524:0.0	.|.|.	1571;1544;1489;100;1572;1571;1543|.|.	B7ZM78;Q3V6T2-2;D6W5D1;B3KW94;Q3V6T2;Q3V6T2-3;Q3V6T2-4|.|.	.;.;.;.;GRDN_HUMAN;.;.|.|.	E|K|R	1571;1544;1572;100;589;1571;747|102|525	ENSP00000338728:D1571E;ENSP00000263630:D1544E;ENSP00000410608:D1572E;ENSP00000390012:D589E;ENSP00000404431:D1571E;ENSP00000405080:D747E|.|.	ENSP00000263630:D1544E|.|.	D|M|X	-|-|-	3|2|1	2|0|0	CCDC88A|CCDC88A|CCDC88A	55381874|55381874|55381874	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	3.534000|3.534000|3.534000	0.53568|0.53568|0.53568	0.873000|0.873000|0.873000	0.35799|0.35799|0.35799	0.482000|0.482000|0.482000	0.46254|0.46254|0.46254	GAT|ATG|TGA		0.308	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		7	24	0	0	0	0	7	24				
INPP4A	3631	broad.mit.edu	37	2	99156130	99156130	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:99156130T>A	ENST00000523221.1	+	8	810	c.810T>A	c.(808-810)gaT>gaA	p.D270E	INPP4A_ENST00000409016.4_Missense_Mutation_p.D270E|INPP4A_ENST00000409540.3_Missense_Mutation_p.D270E|INPP4A_ENST00000074304.5_Missense_Mutation_p.D270E|INPP4A_ENST00000409851.3_Missense_Mutation_p.D270E|INPP4A_ENST00000545415.1_Missense_Mutation_p.D270E|INPP4A_ENST00000409463.1_Intron			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	270					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TAGAGGAAGATGCAGCCAGGT	0.562																																						uc002syy.2		NA																	0				kidney(1)	1						c.(808-810)GAT>GAA		inositol polyphosphate-4-phosphatase, type 1							53.0	53.0	53.0					2																	99156130		2149	4257	6406	SO:0001583	missense	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99156130T>A	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.810T>A	2.37:g.99156130T>A	ENSP00000427722:p.Asp270Glu					INPP4A_uc010yvj.1_Missense_Mutation_p.D270E|INPP4A_uc010yvk.1_Missense_Mutation_p.D270E|INPP4A_uc002syx.2_Missense_Mutation_p.D270E|INPP4A_uc010fik.2_Intron	p.D270E	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN			10	1203	+			270					O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	c.810T>A	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	T	18.76	3.692493	0.68271	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2	5.25	-2.91	0.05631	.	0.000000	0.85682	D	0.000000	T	0.41558	0.1164	L	0.41236	1.265	0.50632	D	0.999884	D;D;D;D	0.89917	0.996;0.997;1.0;1.0	D;D;D;D	0.87578	0.99;0.993;0.998;0.998	T	0.25328	-1.0135	10	0.21014	T	0.42	-23.3732	11.0051	0.47629	0.0:0.3687:0.0:0.6313	.	270;270;270;270	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	E	270	ENSP00000386704:D270E;ENSP00000386777:D270E;ENSP00000074304:D270E;ENSP00000442149:D270E;ENSP00000387294:D270E;ENSP00000427722:D270E	ENSP00000074304:D270E	D	+	3	2	INPP4A	98522562	0.909000	0.30893	0.980000	0.43619	0.995000	0.86356	-0.036000	0.12185	-0.538000	0.06281	0.528000	0.53228	GAT		0.562	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		3	46	0	0	0	0	3	46				
SCN3A	6328	broad.mit.edu	37	2	166032739	166032739	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:166032739C>G	ENST00000360093.3	-	3	657	c.166G>C	c.(166-168)Gaa>Caa	p.E56Q	SCN3A_ENST00000409101.3_Missense_Mutation_p.E56Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.E56Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	56					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTCCAGCTTCCAAGTCACTA	0.428																																						uc002ucx.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(166-168)GAA>CAA		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						201.0	186.0	191.0					2																	166032739		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166032739C>G	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.166G>C	2.37:g.166032739C>G	ENSP00000353206:p.Glu56Gln					SCN3A_uc002ucy.2_Missense_Mutation_p.E56Q|SCN3A_uc002ucz.2_Missense_Mutation_p.E56Q	p.E56Q	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			3	658	-			56					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.166G>C		.	.	.	.	.	.	.	.	.	.	C	20.1	3.939703	0.73557	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431;ENST00000453007	D;D;D;D;T	0.97016	-4.2;-4.21;-4.18;-4.06;8.08	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000008	D	0.98140	0.9386	M	0.82923	2.615	0.80722	D	1	P;P;D	0.67145	0.863;0.737;0.996	P;P;D	0.78314	0.721;0.721;0.991	D	0.97734	1.0204	10	0.38643	T	0.18	.	19.3619	0.94442	0.0:1.0:0.0:0.0	.	56;56;56	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	Q	56	ENSP00000353206:E56Q;ENSP00000283254:E56Q;ENSP00000386726:E56Q;ENSP00000403348:E56Q;ENSP00000391569:E56Q	ENSP00000283254:E56Q	E	-	1	0	SCN3A	165740985	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.657000	0.90304	0.467000	0.42956	GAA		0.428	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		4	119	0	0	0	0	4	119				
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:178098810C>G	ENST00000397062.3	-	2	789	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NA		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		20	Substitution - Missense(20)		lung(13)|oesophagus(4)|upper_aerodigestive_tract(1)|urinary_tract(1)|cervix(1)	central_nervous_system(1)	1						c.(235-237)GAG>CAG		nuclear factor erythroid 2-like 2 isoform 1							147.0	146.0	146.0					2																	178098810		1899	4107	6006	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098810C>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.235G>C	2.37:g.178098810C>G	ENSP00000380252:p.Glu79Gln	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.E63Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63Q|NFE2L2_uc002uli.3_Missense_Mutation_p.E63Q|NFE2L2_uc010fra.2_Missense_Mutation_p.E63Q|NFE2L2_uc010frb.2_Missense_Mutation_p.E63Q	p.E79Q	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	790	-			79					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.235G>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647218	0.67358	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.996;0.994;0.998;0.996	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	63;63;63;79	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	Q	63;79;63;63;63;63;63	ENSP00000380253:E63Q;ENSP00000380252:E79Q;ENSP00000411575:E63Q;ENSP00000391590:E63Q;ENSP00000400073:E63Q;ENSP00000412191:E63Q;ENSP00000410015:E63Q	ENSP00000380252:E79Q	E	-	1	0	NFE2L2	177807056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.737000	0.93849	0.563000	0.77884	GAG		0.443	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		20	43	0	0	0	0	20	43				
ATRN	8455	broad.mit.edu	37	20	3575209	3575209	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr20:3575209G>A	ENST00000262919.5	+	20	3474	c.3406G>A	c.(3406-3408)Gag>Aag	p.E1136K	ATRN_ENST00000446916.2_Missense_Mutation_p.E1136K	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1136	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						CAAGGGGGACGAGTGCCAGCT	0.597																																						uc002wim.2		NA																	0				ovary(1)|breast(1)	2						c.(3406-3408)GAG>AAG		attractin isoform 1							83.0	68.0	73.0					20																	3575209		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3575209G>A	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.3406G>A	20.37:g.3575209G>A	ENSP00000262919:p.Glu1136Lys					ATRN_uc002wil.2_Missense_Mutation_p.E1136K	p.E1136K	NM_139321	NP_647537	O75882	ATRN_HUMAN			20	3496	+			1136			Extracellular (Potential).|Laminin EGF-like 2.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.3406G>A	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892778	0.52121	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.49720	0.77;0.77	5.85	4.89	0.63831	EGF-like, laminin (1);	0.154067	0.64402	D	0.000017	T	0.24084	0.0583	N	0.02539	-0.55	0.49582	D	0.999807	B;B	0.31100	0.067;0.308	B;B	0.27887	0.018;0.084	T	0.08911	-1.0699	10	0.24483	T	0.36	-19.4682	16.5986	0.84803	0.0:0.1305:0.8695:0.0	.	1136;1136	O75882;O75882-2	ATRN_HUMAN;.	K	1136;1136;1062	ENSP00000262919:E1136K;ENSP00000416587:E1136K	ENSP00000262919:E1136K	E	+	1	0	ATRN	3523209	1.000000	0.71417	0.973000	0.42090	0.999000	0.98932	4.965000	0.63708	1.458000	0.47871	0.650000	0.86243	GAG		0.597	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		14	57	0	0	0	0	14	57				
ATRN	8455	broad.mit.edu	37	20	3605205	3605205	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr20:3605205C>T	ENST00000262919.5	+	25	3917	c.3849C>T	c.(3847-3849)ttC>ttT	p.F1283F		NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1283					cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TACAGTTCTTCGTGACTTTCT	0.388																																						uc002wim.2		NA																	0				ovary(1)|breast(1)	2						c.(3847-3849)TTC>TTT		attractin isoform 1							294.0	253.0	267.0					20																	3605205		2203	4300	6503	SO:0001819	synonymous_variant	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3605205C>T	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.3849C>T	20.37:g.3605205C>T							p.F1283F	NM_139321	NP_647537	O75882	ATRN_HUMAN			25	3939	+			1283			Helical; (Potential).		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Silent	SNP	ENST00000262919.5	37	c.3849C>T	CCDS13053.1																																																																																				0.388	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		34	197	0	0	0	0	34	197				
ASXL1	171023	broad.mit.edu	37	20	31023531	31023531	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr20:31023531G>T	ENST00000375687.4	+	13	3440	c.3016G>T	c.(3016-3018)Gaa>Taa	p.E1006*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.E1001*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1006					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTCTGACTTTGAAGGTCACCT	0.502			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2		NA		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		0				haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(3016-3018)GAA>TAA		additional sex combs like 1 isoform 1							106.0	91.0	96.0					20																	31023531		2203	4300	6503	SO:0001587	stop_gained	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31023531G>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3016G>T	20.37:g.31023531G>T	ENSP00000364839:p.Glu1006*					ASXL1_uc010geb.2_Nonsense_Mutation_p.E897*	p.E1006*	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	3442	+			1006					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Nonsense_Mutation	SNP	ENST00000375687.4	37	c.3016G>T	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	44	10.798749	0.99470	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	4.76	4.76	0.60689	.	0.408106	0.27677	N	0.018314	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-9.8524	16.5141	0.84294	0.0:0.0:1.0:0.0	.	.	.	.	X	1006;1006;1006;927;1001	.	ENSP00000305119:E1001X	E	+	1	0	ASXL1	30487192	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.868000	0.87116	2.644000	0.89710	0.491000	0.48974	GAA		0.502	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		32	53	1	0	8.17e-17	9.93e-17	32	53				
TRPC4AP	26133	broad.mit.edu	37	20	33589835	33589835	+	IGR	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr20:33589835G>A	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Missense_Mutation_p.E1963K			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGACATGGCGGAAACCCAGGC	0.672																																						uc002xbi.1		NA																	0				ovary(1)|breast(1)	2						c.(5887-5889)GAA>AAA		myosin, heavy polypeptide 7B, cardiac muscle,							44.0	55.0	51.0					20																	33589835		2194	4297	6491	SO:0001628	intergenic_variant	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33589835G>A	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33589835G>A							p.E1963K	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		42	5979	+			1921			Potential.		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.5887G>A	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	G	36	5.643046	0.96704	.	.	ENSG00000078814	ENST00000262873;ENST00000446156;ENST00000453028;ENST00000435272;ENST00000433934;ENST00000456649	D;D;D;T;T;D	0.85702	-1.65;-2.02;-1.65;1.43;1.43;-1.65	4.45	4.45	0.53987	Myosin tail (1);	0.000000	0.33327	N	0.005028	D	0.94847	0.8335	H	0.96175	3.78	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.96655	0.9484	10	0.87932	D	0	.	17.274	0.87110	0.0:0.0:1.0:0.0	.	1921	A7E2Y1	MYH7B_HUMAN	K	1963;118;96;123;123;96	ENSP00000262873:E1963K;ENSP00000395858:E118K;ENSP00000409103:E96K;ENSP00000391939:E123K;ENSP00000412594:E123K;ENSP00000396368:E96K	ENSP00000262873:E1963K	E	+	1	0	MYH7B	33053496	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	9.630000	0.98420	2.319000	0.78375	0.561000	0.74099	GAA		0.672	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		14	62	0	0	0	0	14	62				
RALGAPB	57148	broad.mit.edu	37	20	37202933	37202933	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr20:37202933G>A	ENST00000262879.6	+	29	4567	c.4283G>A	c.(4282-4284)cGa>cAa	p.R1428Q	RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397038.1_Missense_Mutation_p.R1207Q|RALGAPB_ENST00000397040.1_Missense_Mutation_p.R1428Q|RALGAPB_ENST00000397042.3_Missense_Mutation_p.R1425Q			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1428					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTCAGCAGGCGAGCTCTTGGT	0.358																																						uc002xiw.2		NA																	0				pancreas(1)|skin(1)	2						c.(4282-4284)CGA>CAA		Ral GTPase activating protein, beta subunit							87.0	98.0	94.0					20																	37202933		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37202933G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.4283G>A	20.37:g.37202933G>A	ENSP00000262879:p.Arg1428Gln					RALGAPB_uc002xix.2_Missense_Mutation_p.R1425Q|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Missense_Mutation_p.R1207Q	p.R1428Q	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			29	4540	+			1428					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.4283G>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	36	5.880725	0.97062	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.96809	0.8958	M	0.79258	2.445	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.986	D	0.95905	0.8918	10	0.49607	T	0.09	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	1425;1428	A2A2E9;Q86X10	.;RLGPB_HUMAN	Q	1428;1425;1207;1428;1257	ENSP00000262879:R1428Q;ENSP00000380235:R1425Q;ENSP00000380231:R1207Q;ENSP00000380233:R1428Q;ENSP00000416646:R1257Q	ENSP00000262879:R1428Q	R	+	2	0	RALGAPB	36636347	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.865000	0.98341	0.655000	0.94253	CGA		0.358	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		9	154	0	0	0	0	9	154				
OSBPL2	9885	broad.mit.edu	37	20	60835171	60835171	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr20:60835171C>G	ENST00000313733.3	+	3	374	c.172C>G	c.(172-174)Cag>Gag	p.Q58E	OSBPL2_ENST00000439951.2_Intron|OSBPL2_ENST00000358053.2_Missense_Mutation_p.Q46E	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	58					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GAACGGAATTCAGAAACACAG	0.453																																						uc002yck.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(172-174)CAG>GAG		oxysterol-binding protein-like protein 2 isoform							82.0	83.0	82.0					20																	60835171		2203	4300	6503	SO:0001583	missense	9885				lipid transport		lipid binding	g.chr20:60835171C>G	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.172C>G	20.37:g.60835171C>G	ENSP00000316649:p.Gln58Glu					OSBPL2_uc002ycl.1_Missense_Mutation_p.Q46E|OSBPL2_uc011aah.1_Intron	p.Q58E	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		3	374	+	Breast(26;7.76e-09)		58					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	37	c.172C>G	CCDS13495.1	.	.	.	.	.	.	.	.	.	.	C	1.997	-0.430269	0.04701	.	.	ENSG00000130703	ENST00000358053;ENST00000313733	T;T	0.40225	1.04;1.04	4.69	0.846	0.18955	.	0.673556	0.10980	U	0.612790	T	0.21761	0.0524	N	0.22421	0.69	0.21416	N	0.999692	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.22487	-1.0215	10	0.16420	T	0.52	-6.3769	2.1691	0.03845	0.2966:0.4477:0.1477:0.1079	.	46;58	Q9H1P3-2;Q9H1P3	.;OSBL2_HUMAN	E	46;58	ENSP00000350755:Q46E;ENSP00000316649:Q58E	ENSP00000316649:Q58E	Q	+	1	0	OSBPL2	60268566	0.995000	0.38212	0.004000	0.12327	0.073000	0.16967	2.440000	0.44855	0.458000	0.26988	0.655000	0.94253	CAG		0.453	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		18	58	0	0	0	0	18	58				
SLC17A9	63910	broad.mit.edu	37	20	61594660	61594660	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr20:61594660C>T	ENST00000370351.4	+	6	795	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Missense_Mutation_p.R216W	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	222					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GGCCCAAAGCCGGCCGGTGTC	0.637																																						uc002yea.3		NA																	0				ovary(1)|skin(1)	2						c.(664-666)CGG>TGG		vesicular nucleotide transporter SLC17A9							44.0	48.0	47.0					20																	61594660		1987	4168	6155	SO:0001583	missense	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61594660C>T	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.664C>T	20.37:g.61594660C>T	ENSP00000359376:p.Arg222Trp					SLC17A9_uc002ydz.3_Missense_Mutation_p.R216W|SLC17A9_uc011aap.1_Missense_Mutation_p.R242W	p.R222W	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN			6	848	+			222					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	c.664C>T	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	C	8.464	0.855986	0.17106	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.60040	0.22;0.22	4.86	3.81	0.43845	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.533219	0.18996	N	0.125489	T	0.36853	0.0982	N	0.22421	0.69	0.19945	N	0.999942	P;P;P	0.45428	0.858;0.626;0.829	B;B;B	0.39068	0.289;0.195;0.191	T	0.33343	-0.9872	10	0.59425	D	0.04	.	4.1784	0.10363	0.2045:0.5852:0.0:0.2103	.	242;222;216	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	W	222;216	ENSP00000359376:R222W;ENSP00000359374:R216W	ENSP00000359374:R216W	R	+	1	2	SLC17A9	61065105	0.057000	0.20700	0.783000	0.31826	0.008000	0.06430	0.427000	0.21379	2.243000	0.73865	0.313000	0.20887	CGG		0.637	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082		19	42	0	0	0	0	19	42				
WDR4	10785	broad.mit.edu	37	21	44299570	44299570	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr21:44299570C>G	ENST00000398208.2	-	1	95	c.36G>C	c.(34-36)caG>caC	p.Q12H	WDR4_ENST00000330317.2_Missense_Mutation_p.Q12H|WDR4_ENST00000492742.1_5'Flank	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4											haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CCACCAACGTCTGCCCGCACA	0.682																																						uc002zci.2		NA																	0				ovary(1)	1						c.(34-36)CAG>CAC		WD repeat domain 4 protein							74.0	81.0	78.0					21																	44299570		2203	4299	6502	SO:0001583	missense	10785				tRNA modification	cytoplasm|nucleoplasm	protein binding	g.chr21:44299570C>G	AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"""WD repeat domain containing"""	12756	protein-coding gene	gene with protein product	"""TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"""	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.36G>C	21.37:g.44299570C>G	ENSP00000381266:p.Gln12His					WDR4_uc002zck.1_Missense_Mutation_p.Q12H|WDR4_uc002zcl.1_Intron|WDR4_uc010gpg.1_Missense_Mutation_p.Q12H|WDR4_uc011aew.1_Intron|WDR4_uc010gph.1_5'UTR	p.Q12H	NM_033661	NP_387510	P57081	WDR4_HUMAN		Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)	1	109	-			12						Missense_Mutation	SNP	ENST00000398208.2	37	c.36G>C	CCDS13691.1	.	.	.	.	.	.	.	.	.	.	C	9.956	1.221391	0.22457	.	.	ENSG00000160193	ENST00000330317;ENST00000398208	T;T	0.60424	0.19;0.19	4.4	2.34	0.29019	.	1.138380	0.06541	N	0.743246	T	0.41305	0.1153	N	0.22421	0.69	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.12156	0.007;0.003	T	0.21895	-1.0232	10	0.11794	T	0.64	-5.426	8.7271	0.34476	0.4712:0.5288:0.0:0.0	.	12;12	P57081-2;P57081	.;WDR4_HUMAN	H	12	ENSP00000328671:Q12H;ENSP00000381266:Q12H	ENSP00000328671:Q12H	Q	-	3	2	WDR4	43172639	0.002000	0.14202	0.625000	0.29200	0.426000	0.31534	-0.151000	0.10175	1.028000	0.39785	0.555000	0.69702	CAG		0.682	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1			37	60	0	0	0	0	37	60				
TSSK2	23617	broad.mit.edu	37	22	19118994	19118994	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr22:19118994T>C	ENST00000399635.2	+	1	674	c.82T>C	c.(82-84)Tct>Cct	p.S28P	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	28	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					AAAAGTCAAATCTGCCTACTC	0.507																																						uc002zow.2		NA																	0				stomach(1)	1						c.(82-84)TCT>CCT		testis-specific serine kinase 2							82.0	70.0	74.0					22																	19118994		2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19118994T>C	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.82T>C	22.37:g.19118994T>C	ENSP00000382544:p.Ser28Pro					DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA	p.S28P	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN			1	674	+	Colorectal(54;0.0993)		28			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.82T>C	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	T	17.05	3.288590	0.59976	.	.	ENSG00000206203	ENST00000399635	D	0.82984	-1.67	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000140	D	0.83151	0.5192	N	0.16233	0.39	0.34440	D	0.699488	P	0.51449	0.945	D	0.64506	0.926	D	0.88305	0.2952	10	0.56958	D	0.05	.	13.3465	0.60575	0.0:0.0:0.0:1.0	.	28	Q96PF2	TSSK2_HUMAN	P	28	ENSP00000382544:S28P	ENSP00000382544:S28P	S	+	1	0	TSSK2	17498994	0.907000	0.30839	0.947000	0.38551	0.978000	0.69477	2.013000	0.40942	2.145000	0.66743	0.460000	0.39030	TCT		0.507	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			14	34	0	0	0	0	14	34				
TUBGCP6	85378	broad.mit.edu	37	22	50671941	50671941	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr22:50671941C>T	ENST00000248846.5	-	3	1024	c.920G>A	c.(919-921)aGa>aAa	p.R307K	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.R307K			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	307					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGGCTCCTCTCTGTGGCCAGG	0.637																																						uc003bkb.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(919-921)AGA>AAA		tubulin, gamma complex associated protein 6							18.0	16.0	17.0					22																	50671941		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50671941C>T	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.920G>A	22.37:g.50671941C>T	ENSP00000248846:p.Arg307Lys					TUBGCP6_uc010har.1_Missense_Mutation_p.R307K|TUBGCP6_uc010has.1_RNA	p.R307K	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	3	1432	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	307					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.920G>A	CCDS14087.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.03|10.03	1.239949|1.239949	0.22711|0.22711	.|.	.|.	ENSG00000128159|ENSG00000128159	ENST00000434349|ENST00000248846;ENST00000439308	.|T;T	.|0.10573	.|3.25;2.86	5.69|5.69	3.45|3.45	0.39498|0.39498	.|.	.|0.534882	.|0.20465	.|N	.|0.091810	T|T	0.05502|0.05502	0.0145|0.0145	N|N	0.25144|0.25144	0.715|0.715	0.29113|0.29113	N|N	0.880748|0.880748	.|B;B	.|0.27656	.|0.184;0.145	.|B;B	.|0.22753	.|0.041;0.032	T|T	0.31052|0.31052	-0.9957|-0.9957	5|10	.|0.07325	.|T	.|0.83	.|.	6.811|6.811	0.23805|0.23805	0.0:0.6917:0.0:0.3083|0.0:0.6917:0.0:0.3083	.|.	.|307;307	.|B2RWN4;Q96RT7	.|.;GCP6_HUMAN	K|K	51|307	.|ENSP00000248846:R307K;ENSP00000397387:R307K	.|ENSP00000248846:R307K	E|R	-|-	1|2	0|0	TUBGCP6|TUBGCP6	49014068|49014068	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.398000|0.398000	0.30690|0.30690	1.462000|1.462000	0.35266|0.35266	1.409000|1.409000	0.46915|0.46915	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.637	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		3	12	0	0	0	0	3	12				
SBF1	6305	broad.mit.edu	37	22	50897810	50897810	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr22:50897810C>A	ENST00000390679.3	-	28	3884	c.3700G>T	c.(3700-3702)Gcg>Tcg	p.A1234S	SBF1_ENST00000380817.3_Missense_Mutation_p.A1234S|SBF1_ENST00000348911.6_Missense_Mutation_p.A1235S|SBF1_ENST00000476293.1_5'Flank			O95248	MTMR5_HUMAN	SET binding factor 1	1234	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTCGAGTCCGCCTGGGACTGG	0.667																																						uc003blh.2		NA																	0					0						c.(3700-3702)GCG>TCG		SET binding factor 1							18.0	22.0	21.0					22																	50897810		2109	4213	6322	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50897810C>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3700G>T	22.37:g.50897810C>A	ENSP00000375097:p.Ala1234Ser					SBF1_uc011arx.1_Missense_Mutation_p.A898S	p.A1234S	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	28	3895	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1234			Myotubularin phosphatase.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.3700G>T		.	.	.	.	.	.	.	.	.	.	C	11.40	1.627983	0.28978	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.90004	-2.6;-2.6;-2.6	4.44	3.41	0.39046	Myotubularin phosphatase domain (1);	0.540501	0.19678	N	0.108582	T	0.76004	0.3927	N	0.12887	0.27	0.49213	D	0.999762	B;B	0.26081	0.02;0.141	B;B	0.21360	0.034;0.028	T	0.68973	-0.5268	10	0.32370	T	0.25	.	7.8929	0.29688	0.0:0.8056:0.0:0.1944	.	1234;1234	O95248;O95248-4	MTMR5_HUMAN;.	S	1234;1235;1244;1234	ENSP00000370196:A1234S;ENSP00000252027:A1235S;ENSP00000375097:A1234S	ENSP00000336522:A1244S	A	-	1	0	SBF1	49244676	1.000000	0.71417	0.978000	0.43139	0.900000	0.52787	0.762000	0.26503	1.063000	0.40649	0.561000	0.74099	GCG		0.667	SBF1-201	KNOWN	basic	protein_coding	protein_coding				16	18	1	0	0.00316338	0.00343056	16	18				
GRM7	2917	broad.mit.edu	37	3	6903352	6903352	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:6903352C>T	ENST00000357716.4	+	1	551	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S	GRM7_ENST00000389336.4_Missense_Mutation_p.P93S|GRM7_ENST00000402647.2_Missense_Mutation_p.P93S|GRM7_ENST00000403881.1_Missense_Mutation_p.P93S|GRM7_ENST00000486284.1_Missense_Mutation_p.P93S	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	93					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CAACAGTGATCCCAACCTACT	0.607																																						uc003bqm.2		NA																	0				ovary(4)|lung(3)	7						c.(277-279)CCC>TCC		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						46.0	39.0	41.0					3																	6903352		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:6903352C>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.277C>T	3.37:g.6903352C>T	ENSP00000350348:p.Pro93Ser					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.P93S|GRM7_uc003bql.2_Missense_Mutation_p.P93S	p.P93S	NM_000844	NP_000835	Q14831	GRM7_HUMAN			1	551	+			93			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.277C>T	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362647	0.41902	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	5.27	5.27	0.74061	Extracellular ligand-binding receptor (1);	0.171214	0.39687	N	0.001287	T	0.62732	0.2452	L	0.58583	1.82	0.40324	D	0.978859	P;P;B	0.38711	0.59;0.643;0.051	B;B;B	0.34722	0.118;0.188;0.067	T	0.64223	-0.6458	10	0.30078	T	0.28	.	17.462	0.87622	0.0:1.0:0.0:0.0	.	93;93;93	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	S	93	ENSP00000350348:P93S;ENSP00000417536:P93S;ENSP00000373987:P93S;ENSP00000385664:P93S;ENSP00000384585:P93S	ENSP00000350348:P93S	P	+	1	0	GRM7	6878352	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.793000	0.55484	2.448000	0.82819	0.563000	0.77884	CCC		0.607	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		11	7	0	0	0	0	11	7				
USP19	10869	broad.mit.edu	37	3	49148936	49148936	+	Missense_Mutation	SNP	C	C	T	rs372954314		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:49148936C>T	ENST00000398888.2	-	20	3223	c.2905G>A	c.(2905-2907)Gaa>Aaa	p.E969K	USP19_ENST00000398896.1_Missense_Mutation_p.E777K|USP19_ENST00000453664.1_Missense_Mutation_p.E1060K|USP19_ENST00000417901.1_Missense_Mutation_p.E1072K|USP19_ENST00000398892.3_Missense_Mutation_p.E1009K|USP19_ENST00000434032.2_Missense_Mutation_p.E1070K|USP19_ENST00000398898.2_Missense_Mutation_p.E1009K	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	969	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCTTACCTTCGGGTCGGGAC	0.607																																						uc003cwd.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(2905-2907)GAA>AAA		ubiquitin thioesterase 19		C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,3804		0,0,1902	39.0	40.0	40.0		3208,3214,3178,2905	6.0	1.0	3		40	1,8249		0,1,4124	no	missense,missense,missense,missense	USP19	NM_001199160.1,NM_001199161.1,NM_001199162.1,NM_006677.2	56,56,56,56	0,1,6026	TT,TC,CC		0.0121,0.0,0.0083	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1070/1420,1072/1385,1060/1373,969/1319	49148936	1,12053	1902	4125	6027	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49148936C>T	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.2905G>A	3.37:g.49148936C>T	ENSP00000381863:p.Glu969Lys					USP19_uc003cwa.2_Missense_Mutation_p.E777K|USP19_uc003cvz.3_Missense_Mutation_p.E1072K|USP19_uc011bcg.1_Missense_Mutation_p.E1060K|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Missense_Mutation_p.E727K|USP19_uc011bch.1_Missense_Mutation_p.E1070K	p.E969K	NM_006677	NP_006668	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	20	3066	-			969			Cytoplasmic (Potential).		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.2905G>A	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747161	0.69418	0.0	1.21E-4	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.25579	1.87;1.81;1.9;1.86;1.79;1.95;1.86	6.04	6.04	0.98038	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.283001	0.40064	N	0.001191	T	0.43986	0.1272	L	0.46947	1.48	0.48288	D	0.999628	D;D;D;D;B	0.76494	0.999;0.999;0.964;0.997;0.363	D;D;P;P;B	0.64687	0.928;0.928;0.7;0.732;0.099	T	0.03473	-1.1033	10	0.41790	T	0.15	.	17.7997	0.88583	0.0:1.0:0.0:0.0	.	1070;1060;969;1009;777	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	K	777;1009;1072;1060;1009;969;1070	ENSP00000381870:E777K;ENSP00000381872:E1009K;ENSP00000395260:E1072K;ENSP00000400090:E1060K;ENSP00000381867:E1009K;ENSP00000381863:E969K;ENSP00000401197:E1070K	ENSP00000381863:E969K	E	-	1	0	USP19	49123940	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	2.541000	0.45735	2.890000	0.99128	0.650000	0.86243	GAA		0.607	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		17	17	0	0	0	0	17	17				
BBX	56987	broad.mit.edu	37	3	107497345	107497345	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:107497345G>T	ENST00000325805.8	+	13	2469	c.2182G>T	c.(2182-2184)Gaa>Taa	p.E728*	BBX_ENST00000416476.2_Missense_Mutation_p.Q391H|BBX_ENST00000473542.1_3'UTR|BBX_ENST00000402543.1_Nonsense_Mutation_p.E728*|BBX_ENST00000415149.2_Nonsense_Mutation_p.E728*|BBX_ENST00000406780.1_Nonsense_Mutation_p.E728*			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	728	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TGTGTCCTCAGAACCGACTAA	0.438																																						uc010hpr.2		NA																	0				ovary(3)|skin(1)	4						c.(2182-2184)GAA>TAA		HMG-BOX transcription factor BBX isoform 1							97.0	91.0	93.0					3																	107497345		2203	4300	6503	SO:0001587	stop_gained	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107497345G>T	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.2182G>T	3.37:g.107497345G>T	ENSP00000319974:p.Glu728*					BBX_uc003dwk.3_Nonsense_Mutation_p.E728*|BBX_uc003dwl.3_Missense_Mutation_p.Q391H|BBX_uc003dwm.3_Nonsense_Mutation_p.E728*|BBX_uc003dwo.3_Missense_Mutation_p.Q77H	p.E728*	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		13	2509	+			728			Lys-rich.		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Nonsense_Mutation	SNP	ENST00000325805.8	37	c.2182G>T	CCDS46881.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	45|45	11.418639|11.418639	0.99558|0.99558	.|.	.|.	ENSG00000114439|ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780|ENST00000416476	.|D	.|0.98914	.|-5.23	5.92|5.92	5.03|5.03	0.67393|0.67393	.|.	0.087762|.	0.85682|.	D|.	0.000000|.	.|D	.|0.97250	.|0.9101	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|B;B	.|0.10296	.|0.003;0.0	.|B;B	.|0.09377	.|0.004;0.0	.|D	.|0.95923	.|0.8932	.|7	0.87932|0.87932	D|D	0|0	-19.7903|-19.7903	16.9241|16.9241	0.86170|0.86170	0.0:0.128:0.872:0.0|0.0:0.128:0.872:0.0	.|.	.|38;391	.|Q9NRU5;A2RRM7	.|.;.	X|H	728|391	.|ENSP00000403860:Q391H	ENSP00000319974:E728X|ENSP00000403860:Q391H	E|Q	+|+	1|3	0|2	BBX|BBX	108980035|108980035	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.806000|0.806000	0.45545|0.45545	6.035000|6.035000	0.70940|0.70940	1.459000|1.459000	0.47892|0.47892	0.650000|0.650000	0.86243|0.86243	GAA|CAG		0.438	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		5	71	1	0	3.6e-05	4.08e-05	5	71				
PLXND1	23129	broad.mit.edu	37	3	129281955	129281955	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:129281955G>T	ENST00000324093.4	-	26	4828	c.4650C>A	c.(4648-4650)aaC>aaA	p.N1550K	PLXND1_ENST00000393239.1_Missense_Mutation_p.N1550K	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1550					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGGCCTCGATGTTCTCCCGCA	0.637																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NA																	0				large_intestine(1)	1						c.(4648-4650)AAC>AAA		plexin D1 precursor							55.0	51.0	53.0					3																	129281955		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129281955G>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.4650C>A	3.37:g.129281955G>T	ENSP00000317128:p.Asn1550Lys					PLXND1_uc011blb.1_Missense_Mutation_p.N218K	p.N1550K	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			26	4750	-			1550			Cytoplasmic (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.4650C>A	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303176	0.81136	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.10960	2.82;2.82	5.25	5.25	0.73442	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.167597	0.51477	D	0.000094	T	0.30166	0.0756	L	0.50333	1.59	0.58432	D	0.999999	P;D	0.89917	0.945;1.0	P;D	0.91635	0.685;0.999	T	0.01108	-1.1449	10	0.66056	D	0.02	.	18.8662	0.92293	0.0:0.0:1.0:0.0	.	145;1550	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	K	1550	ENSP00000317128:N1550K;ENSP00000376931:N1550K	ENSP00000317128:N1550K	N	-	3	2	PLXND1	130764645	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	4.843000	0.62838	2.454000	0.82982	0.462000	0.41574	AAC		0.637	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		17	23	1	0	3.46e-05	3.95e-05	17	23				
AADAC	13	broad.mit.edu	37	3	151545495	151545495	+	Silent	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:151545495C>G	ENST00000232892.7	+	5	861	c.735C>G	c.(733-735)ctC>ctG	p.L245L	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	245					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CCAAATCACTCATGGTCAGAT	0.363																																					Ovarian(30;839 841 2699 32801 46334)	uc003eze.2		NA																	0				skin(2)	2						c.(733-735)CTC>CTG		arylacetamide deacetylase							65.0	67.0	66.0					3																	151545495		2203	4299	6502	SO:0001819	synonymous_variant	13				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	g.chr3:151545495C>G	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.735C>G	3.37:g.151545495C>G							p.L245L	NM_001086	NP_001077	P22760	AAAD_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	825	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	245			Lumenal (Potential).		A8K3L3|D3DNJ6|Q8N1A9	Silent	SNP	ENST00000232892.7	37	c.735C>G	CCDS33877.1																																																																																				0.363	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		19	58	0	0	0	0	19	58				
PLCH1	23007	broad.mit.edu	37	3	155200527	155200527	+	Silent	SNP	A	A	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:155200527A>G	ENST00000340059.7	-	23	3311	c.3312T>C	c.(3310-3312)ggT>ggC	p.G1104G	PLCH1_ENST00000460012.1_Silent_p.G1066G|PLCH1_ENST00000334686.6_Silent_p.G1066G|PLCH1_ENST00000414191.1_Silent_p.G1066G|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1104					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGATTTTCACACCATGCAGAT	0.473																																						uc011bok.1		NA																	0				skin(3)|ovary(1)	4						c.(3310-3312)GGT>GGC		phospholipase C eta 1 isoform a							140.0	140.0	140.0					3																	155200527		2203	4300	6503	SO:0001819	synonymous_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200527A>G	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3312T>C	3.37:g.155200527A>G						PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Silent_p.G1066G	p.G1104G	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	3589	-			1104					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	ENST00000340059.7	37	c.3312T>C	CCDS46939.1																																																																																				0.473	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		49	170	0	0	0	0	49	170				
NLGN1	22871	broad.mit.edu	37	3	173997073	173997073	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:173997073G>C	ENST00000457714.1	+	6	1711	c.1282G>C	c.(1282-1284)Ggc>Cgc	p.G428R	NLGN1_ENST00000545397.1_Missense_Mutation_p.G428R|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000361589.4_Missense_Mutation_p.G428R|NLGN1_ENST00000401917.3_Missense_Mutation_p.G468R	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	445					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATATCCTGAAGGCAAAGATGT	0.343																																						uc003fio.1		NA																	0				lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7						c.(1282-1284)GGC>CGC		neuroligin 1							95.0	100.0	98.0					3																	173997073		2203	4300	6503	SO:0001583	missense	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173997073G>C	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1282G>C	3.37:g.173997073G>C	ENSP00000392500:p.Gly428Arg					NLGN1_uc010hww.1_Missense_Mutation_p.G468R|NLGN1_uc003fip.1_Missense_Mutation_p.G428R	p.G428R	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		6	1705	+	Ovarian(172;0.0025)		445			Extracellular (Potential).		Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	c.1282G>C	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264583	0.59431	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.50017	0.1591	N	0.05510	-0.035	0.80722	D	1	P;B	0.36027	0.533;0.403	P;B	0.49085	0.6;0.107	T	0.53143	-0.8480	10	0.41790	T	0.15	.	20.2561	0.98419	0.0:0.0:1.0:0.0	.	468;428	D2X2H5;Q8N2Q7-2	.;.	R	428;428;428;468	ENSP00000392500:G428R;ENSP00000354541:G428R;ENSP00000441108:G428R;ENSP00000385750:G468R	ENSP00000354541:G428R	G	+	1	0	NLGN1	175479767	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.797000	0.96272	0.563000	0.77884	GGC		0.343	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932		6	90	0	0	0	0	6	90				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			6	65	0	0	0	0	6	65				
WDFY3	23001	broad.mit.edu	37	4	85752750	85752750	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr4:85752750C>T	ENST00000295888.4	-	8	992	c.585G>A	c.(583-585)gtG>gtA	p.V195V	WDFY3_ENST00000322366.6_Silent_p.V195V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	195					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGCACAGTTTCactaagatct	0.388																																						uc003hpd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(583-585)GTG>GTA		WD repeat and FYVE domain containing 3 isoform							51.0	55.0	53.0					4																	85752750		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85752750C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.585G>A	4.37:g.85752750C>T						WDFY3_uc003hpf.2_Silent_p.V195V	p.V195V	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	8	993	-		Hepatocellular(203;0.114)	195					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.585G>A	CCDS3609.1																																																																																				0.388	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		18	41	0	0	0	0	18	41				
SLC39A8	64116	broad.mit.edu	37	4	103226195	103226195	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr4:103226195A>T	ENST00000394833.2	-	4	1102	c.626T>A	c.(625-627)cTt>cAt	p.L209H	SLC39A8_ENST00000424970.2_Missense_Mutation_p.L209H|SLC39A8_ENST00000510255.1_5'UTR|SLC39A8_ENST00000356736.4_Missense_Mutation_p.L209H	NM_001135148.1|NM_022154.5	NP_001128620.1|NP_071437.3	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	209					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)|plasma membrane (GO:0005886)	metal ion transmembrane transporter activity (GO:0046873)			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		AAAAAAGAAAAGTAGGTAAAA	0.348																																						uc003hwb.1		NA																	0					0						c.(625-627)CTT>CAT		solute carrier family 39 (zinc transporter),							63.0	65.0	64.0					4																	103226195		2203	4300	6503	SO:0001583	missense	64116					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity	g.chr4:103226195A>T		CCDS3656.1, CCDS47117.1	4q22-q24	2013-05-22			ENSG00000138821	ENSG00000138821		"""Solute carriers"""	20862	protein-coding gene	gene with protein product		608732	"""solute carrier family 39 (metal ion transporter), member 8"""			12504855, 12659941	Standard	NM_001135146		Approved	BIGM103	uc003hwc.2	Q9C0K1	OTTHUMG00000131120	ENST00000394833.2:c.626T>A	4.37:g.103226195A>T	ENSP00000378310:p.Leu209His					SLC39A8_uc011ceo.1_Missense_Mutation_p.L209H|SLC39A8_uc003hwa.1_Missense_Mutation_p.L142H|SLC39A8_uc003hwc.2_Missense_Mutation_p.L209H	p.L209H	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)	4	1155	-		Hepatocellular(203;0.217)	209			Helical; (Potential).		B4E2H3|Q96SM9|Q9BVC0|Q9NSA4	Missense_Mutation	SNP	ENST00000394833.2	37	c.626T>A	CCDS3656.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.536547	0.85812	.	.	ENSG00000138821	ENST00000424970;ENST00000356736;ENST00000394833	T;T;T	0.53423	0.62;0.62;0.62	5.26	5.26	0.73747	.	0.229864	0.34828	N	0.003651	T	0.67618	0.2912	M	0.75085	2.285	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.99	D;D;D	0.71870	0.975;0.969;0.947	T	0.72286	-0.4338	10	0.87932	D	0	-16.8257	14.3595	0.66761	1.0:0.0:0.0:0.0	.	209;209;142	B4E2H3;Q9C0K1;Q9C0K1-2	.;S39A8_HUMAN;.	H	209	ENSP00000394548:L209H;ENSP00000349174:L209H;ENSP00000378310:L209H	ENSP00000349174:L209H	L	-	2	0	SLC39A8	103445218	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	8.395000	0.90188	1.998000	0.58463	0.533000	0.62120	CTT		0.348	SLC39A8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253798.1	NM_022154		6	32	0	0	0	0	6	32				
ARSJ	79642	broad.mit.edu	37	4	114823767	114823767	+	Nonsense_Mutation	SNP	G	G	C	rs537924140		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr4:114823767G>C	ENST00000315366.7	-	2	2329	c.1463C>G	c.(1462-1464)tCa>tGa	p.S488*	ARSJ_ENST00000541197.1_Nonsense_Mutation_p.S488*	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	488					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TTTGCCAGTTGACAAGGTGAT	0.512																																						uc003ibq.1		NA																	0				ovary(1)	1						c.(1462-1464)TCA>TGA		arylsulfatase J precursor							96.0	91.0	93.0					4																	114823767		1941	4152	6093	SO:0001587	stop_gained	79642					extracellular region	arylsulfatase activity|metal ion binding	g.chr4:114823767G>C		CCDS43264.1	4q26	2013-02-14	2006-03-07		ENSG00000180801	ENSG00000180801		"""Arylsulfatase family"""	26286	protein-coding gene	gene with protein product		610010	"""arylsulfatase J"""			12975309, 16174644	Standard	NM_024590		Approved	FLJ23548	uc003ibq.1	Q5FYB0	OTTHUMG00000161067	ENST00000315366.7:c.1463C>G	4.37:g.114823767G>C	ENSP00000320219:p.Ser488*					ARSJ_uc010imu.1_Nonsense_Mutation_p.S488*|ARSJ_uc010imv.1_Nonsense_Mutation_p.S316*	p.S488*	NM_024590	NP_078866	Q5FYB0	ARSJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00194)	2	2351	-		Ovarian(17;0.0035)|Hepatocellular(203;0.217)	488					A2RUG0|B7ZM45|Q1HA39|Q5FWE4|Q6UWT9	Nonsense_Mutation	SNP	ENST00000315366.7	37	c.1463C>G	CCDS43264.1	.	.	.	.	.	.	.	.	.	.	G	32	5.109485	0.94292	.	.	ENSG00000180801	ENST00000315366;ENST00000541197;ENST00000545965	.	.	.	5.41	5.41	0.78517	.	1.119980	0.06697	N	0.770714	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	19.2114	0.93757	0.0:0.0:1.0:0.0	.	.	.	.	X	488;488;57	.	ENSP00000320219:S488X	S	-	2	0	ARSJ	115043216	0.993000	0.37304	0.844000	0.33320	0.801000	0.45260	2.936000	0.48971	2.544000	0.85801	0.655000	0.94253	TCA		0.512	ARSJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363650.1	NM_024590		33	61	0	0	0	0	33	61				
ADAM29	11086	broad.mit.edu	37	4	175897109	175897109	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr4:175897109T>A	ENST00000359240.3	+	5	1103	c.433T>A	c.(433-435)Ttt>Att	p.F145I	ADAM29_ENST00000445694.1_Missense_Mutation_p.F145I|ADAM29_ENST00000404450.4_Missense_Mutation_p.F145I|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.F145I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	145					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTCTACCACGTTTGAACATCT	0.383																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NA																	0				skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(433-435)TTT>ATT		ADAM metallopeptidase domain 29 preproprotein							82.0	85.0	84.0					4																	175897109		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897109T>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.433T>A	4.37:g.175897109T>A	ENSP00000352177:p.Phe145Ile					ADAM29_uc003iud.2_Missense_Mutation_p.F145I|ADAM29_uc010irr.2_Missense_Mutation_p.F145I|ADAM29_uc011cki.1_Missense_Mutation_p.F145I	p.F145I	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1103	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	145					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.433T>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	T	15.76	2.927496	0.52759	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.06608	3.28;3.28;3.28;3.28	4.44	4.44	0.53790	Peptidase M12B, propeptide (1);	0.000000	0.37053	U	0.002273	T	0.33323	0.0859	H	0.96015	3.755	0.26037	N	0.981659	D	0.67145	0.996	D	0.68621	0.959	T	0.44081	-0.9351	9	.	.	.	.	10.6195	0.45472	0.0:0.0:0.0:1.0	.	145	Q9UKF5	ADA29_HUMAN	I	145	ENSP00000352177:F145I;ENSP00000414544:F145I;ENSP00000384229:F145I;ENSP00000423517:F145I	.	F	+	1	0	ADAM29	176133684	0.997000	0.39634	0.869000	0.34112	0.165000	0.22458	2.977000	0.49297	1.939000	0.56221	0.523000	0.50628	TTT		0.383	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				16	44	0	0	0	0	16	44				
TTC23L	153657	broad.mit.edu	37	5	34845770	34845770	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr5:34845770G>A	ENST00000505624.1	+	3	350	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	83										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						GCTGATTAAGGAAAAAATGGT	0.358																																						uc003jiu.2		NA																	0				central_nervous_system(1)	1						c.(247-249)GAA>AAA		tetratricopeptide repeat domain 23-like							56.0	53.0	54.0					5																	34845770		1817	4079	5896	SO:0001583	missense	153657						binding	g.chr5:34845770G>A		CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.247G>A	5.37:g.34845770G>A	ENSP00000422188:p.Glu83Lys						p.E83K	NM_144725	NP_653326	Q6PF05	TT23L_HUMAN			3	350	+			83			Potential.		Q6RGS4|Q8N7R3|Q96LJ2	Missense_Mutation	SNP	ENST00000505624.1	37	c.247G>A	CCDS54840.1	.	.	.	.	.	.	.	.	.	.	G	8.894	0.954784	0.18431	.	.	ENSG00000205838	ENST00000505624;ENST00000535797	T	0.11821	2.74	4.85	0.889	0.19212	.	1.504650	0.03667	N	0.243464	T	0.07188	0.0182	N	0.12182	0.205	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.29212	-1.0019	10	0.02654	T	1	-18.8197	7.1459	0.25583	0.3925:0.0:0.6075:0.0	.	83	Q6PF05	TT23L_HUMAN	K	83	ENSP00000422188:E83K	ENSP00000425242:E83K	E	+	1	0	TTC23L	34881527	0.004000	0.15560	0.082000	0.20525	0.989000	0.77384	0.096000	0.15147	0.035000	0.15519	0.650000	0.86243	GAA		0.358	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1	NM_144725		3	28	0	0	0	0	3	28				
PWWP2A	114825	broad.mit.edu	37	5	159520157	159520157	+	Silent	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr5:159520157G>C	ENST00000307063.7	-	2	1534	c.1500C>G	c.(1498-1500)ggC>ggG	p.G500G	PWWP2A_ENST00000456329.3_Silent_p.G500G|PWWP2A_ENST00000523662.1_Silent_p.G500G	NM_001130864.1	NP_001124336.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	500										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGCCATCTTGCCACTCCGCA	0.537																																						uc011ded.1		NA																	0					0						c.(1498-1500)GGC>GGG		PWWP domain containing 2A isoform b							48.0	46.0	46.0					5																	159520157		1966	4162	6128	SO:0001819	synonymous_variant	114825							g.chr5:159520157G>C		CCDS47331.1, CCDS47332.1, CCDS58990.1	5q33.3	2011-03-23			ENSG00000170234	ENSG00000170234			29406	protein-coding gene	gene with protein product							Standard	NM_052927		Approved	KIAA1935	uc011ded.2	Q96N64	OTTHUMG00000163546	ENST00000307063.7:c.1500C>G	5.37:g.159520157G>C						PWWP2A_uc003lxv.3_Silent_p.G500G|PWWP2A_uc011dec.1_Silent_p.G500G	p.G500G	NM_001130864	NP_001124336	Q96N64	PWP2A_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	1557	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	500					G5EA07|Q2HJJ2|Q8IYR3|Q96PV3	Silent	SNP	ENST00000307063.7	37	c.1500C>G	CCDS47332.1																																																																																				0.537	PWWP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374092.1			5	21	0	0	0	0	5	21				
JARID2	3720	broad.mit.edu	37	6	15501599	15501599	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:15501599G>A	ENST00000341776.2	+	8	2651	c.2407G>A	c.(2407-2409)Gac>Aac	p.D803N	JARID2_ENST00000397311.3_Missense_Mutation_p.D631N|JARID2_ENST00000474854.1_3'UTR|JARID2_ENST00000541660.1_Missense_Mutation_p.D765N	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	803					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGAGGAGGAGGACAAAGGCGT	0.587																																						uc003nbj.2		NA																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(2407-2409)GAC>AAC		jumonji, AT rich interactive domain 2 protein							22.0	25.0	24.0					6																	15501599		2199	4287	6486	SO:0001583	missense	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15501599G>A	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2407G>A	6.37:g.15501599G>A	ENSP00000341280:p.Asp803Asn					JARID2_uc011div.1_Missense_Mutation_p.D631N|JARID2_uc011diw.1_Missense_Mutation_p.D765N	p.D803N	NM_004973	NP_004964	Q92833	JARD2_HUMAN			8	2651	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	803					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.2407G>A	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594667	0.66219	.	.	ENSG00000008083	ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.89485	-1.93;-1.93;-2.52	4.53	4.53	0.55603	.	0.200064	0.50627	D	0.000119	T	0.82130	0.4970	L	0.45137	1.4	0.51482	D	0.999928	P;P	0.46706	0.787;0.883	B;B	0.41988	0.372;0.327	D	0.84040	0.0364	10	0.45353	T	0.12	-18.618	17.4357	0.87552	0.0:0.0:1.0:0.0	.	765;803	F5H590;Q92833	.;JARD2_HUMAN	N	803;631;765	ENSP00000341280:D803N;ENSP00000380478:D631N;ENSP00000444623:D765N	ENSP00000341280:D803N	D	+	1	0	JARID2	15609578	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.130000	0.77235	2.339000	0.79563	0.561000	0.74099	GAC		0.587	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		5	27	0	0	0	0	5	27				
HIST1H3B	8358	broad.mit.edu	37	6	26032187	26032187	+	Silent	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:26032187G>T	ENST00000244661.2	-	1	101	c.102C>A	c.(100-102)ggC>ggA	p.G34G		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	34					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TTTTCACGCCGCCGGTAGCCG	0.627																																						uc003nfs.1		NA																	0				ovary(2)	2						c.(100-102)GGC>GGA		histone cluster 1, H3b							60.0	74.0	69.0					6																	26032187		2165	4245	6410	SO:0001819	synonymous_variant	8358				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26032187G>T	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.102C>A	6.37:g.26032187G>T							p.G34G	NM_003537	NP_003528	P68431	H31_HUMAN			1	102	-			34					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000244661.2	37	c.102C>A	CCDS4573.1																																																																																				0.627	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040077.1	NM_003537		16	138	1	0	4.75e-09	5.69e-09	16	138				
ZBED9	114821	broad.mit.edu	37	6	28554410	28554410	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:28554410C>T	ENST00000452236.2	-	1	702	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	SCAND3_ENST00000530247.1_Intron|RP5-1186N24.3_ENST00000499525.1_RNA	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TGGTCTTCTTCTTTAACCTTT	0.502																																						uc003nlo.2		NA																	0				ovary(1)	1						c.(85-87)GAA>AAA		SCAN domain containing 3							121.0	109.0	113.0					6																	28554410		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28554410C>T																												ENST00000452236.2:c.85G>A	6.37:g.28554410C>T	ENSP00000395259:p.Glu29Lys					uc003nlp.1_5'Flank	p.E29K	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			1	703	-			29						Missense_Mutation	SNP	ENST00000452236.2	37	c.85G>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849420	0.51270	.	.	ENSG00000232040	ENST00000452236	T	0.02015	4.5	3.33	2.46	0.29980	.	.	.	.	.	T	0.02494	0.0076	M	0.88181	2.935	0.23396	N	0.997769	P	0.37663	0.604	B	0.44163	0.443	T	0.38802	-0.9644	9	0.87932	D	0	.	3.9724	0.09458	0.2347:0.6381:0.0:0.1272	.	29	Q6R2W3	SCND3_HUMAN	K	29	ENSP00000395259:E29K	ENSP00000395259:E29K	E	-	1	0	SCAND3	28662389	0.657000	0.27393	0.709000	0.30452	0.945000	0.59286	2.049000	0.41288	0.739000	0.32628	0.563000	0.77884	GAA		0.502	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			18	45	0	0	0	0	18	45				
PAQR8	85315	broad.mit.edu	37	6	52268776	52268776	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:52268776C>T	ENST00000442253.2	+	2	939	c.765C>T	c.(763-765)ttC>ttT	p.F255F	PAQR8_ENST00000360726.3_Silent_p.F255F	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	255					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TCCTCTTCTTCCTGGTTAGCG	0.577																																						uc003pao.3		NA																	0					0						c.(763-765)TTC>TTT		progestin and adipoQ receptor family member							116.0	106.0	109.0					6																	52268776		2203	4300	6503	SO:0001819	synonymous_variant	85315				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	g.chr6:52268776C>T	AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	ENST00000442253.2:c.765C>T	6.37:g.52268776C>T							p.F255F	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN			2	939	+	Lung NSC(77;0.0875)		255			Helical; Name=5; (Potential).		B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Silent	SNP	ENST00000442253.2	37	c.765C>T	CCDS4941.1																																																																																				0.577	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040903.2	NM_133367		23	52	0	0	0	0	23	52				
FAM184A	79632	broad.mit.edu	37	6	119341142	119341142	+	Splice_Site	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:119341142C>T	ENST00000338891.7	-	4	1776		c.e4+1		RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Splice_Site|FAM184A_ENST00000368475.4_Splice_Site|FAM184A_ENST00000521531.1_Splice_Site|FAM184A_ENST00000352896.5_Splice_Site	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A							extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTACTTTTTACCTTCTCCAGT	0.398																																						uc003pyj.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(2)|pancreas(1)	7						c.e4+1		hypothetical protein LOC79632 isoform 1							152.0	141.0	144.0					6																	119341142		1836	4081	5917	SO:0001630	splice_region_variant	79632							g.chr6:119341142C>T	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1332+1G>A	6.37:g.119341142C>T						FAM184A_uc003pyk.3_Splice_Site_p.K324_splice|FAM184A_uc003pyl.3_Splice_Site_p.K324_splice	p.K444_splice	NM_024581	NP_078857	Q8NB25	F184A_HUMAN			4	1680	-								B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Splice_Site	SNP	ENST00000338891.7	37	c.1332_splice	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127770	0.77549	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284;ENST00000448815	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1736	0.98170	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM184A	119382841	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.923000	0.75817	2.767000	0.95098	0.557000	0.71058	.		0.398	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	Intron	7	60	0	0	0	0	7	60				
LAMA2	3908	broad.mit.edu	37	6	129724979	129724979	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:129724979G>T	ENST00000421865.2	+	40	5789	c.5740G>T	c.(5740-5742)Gct>Tct	p.A1914S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1914	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCTTGATGAGGCTAAAAACAT	0.398																																						uc003qbn.2		NA																	0				ovary(8)|breast(1)|skin(1)	10						c.(5740-5742)GCT>TCT		laminin alpha 2 subunit isoform a precursor							87.0	87.0	87.0					6																	129724979		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129724979G>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5740G>T	6.37:g.129724979G>T	ENSP00000400365:p.Ala1914Ser					LAMA2_uc003qbo.2_Missense_Mutation_p.A1914S	p.A1914S	NM_000426	NP_000417	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	40	5845	+			1914			Domain II and I.|Potential.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.5740G>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751107	0.89753	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.22743	1.94	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.38532	0.1044	M	0.68317	2.08	0.58432	D	0.999995	D;D	0.76494	0.999;0.999	D;D	0.66196	0.942;0.91	T	0.12941	-1.0528	10	0.62326	D	0.03	.	19.7297	0.96177	0.0:0.0:1.0:0.0	.	1914;1914	A6NF00;P24043	.;LAMA2_HUMAN	S	1914	ENSP00000400365:A1914S	ENSP00000346769:A1914S	A	+	1	0	LAMA2	129766672	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.002000	0.76304	2.658000	0.90341	0.650000	0.86243	GCT		0.398	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			12	26	1	0	2.32e-05	2.66e-05	12	26				
MAP3K4	4216	broad.mit.edu	37	6	161470492	161470492	+	Missense_Mutation	SNP	G	G	C	rs111941258		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:161470492G>C	ENST00000392142.4	+	3	1336	c.1188G>C	c.(1186-1188)tgG>tgC	p.W396C	MAP3K4_ENST00000366920.2_Missense_Mutation_p.W396C|MAP3K4_ENST00000366919.2_Missense_Mutation_p.W396C|MAP3K4_ENST00000348824.7_Missense_Mutation_p.W396C	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	396					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCTGTTTGTGGTTAAACATCA	0.403																																						uc003qtn.2		NA																	0				ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(1186-1188)TGG>TGC		mitogen-activated protein kinase kinase kinase 4							80.0	83.0	82.0					6																	161470492		2203	4300	6503	SO:0001583	missense	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161470492G>C	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.1188G>C	6.37:g.161470492G>C	ENSP00000375986:p.Trp396Cys					MAP3K4_uc010kkc.1_Missense_Mutation_p.W396C|MAP3K4_uc003qto.2_Missense_Mutation_p.W396C|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	p.W396C	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	3	1330	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	396					A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	c.1188G>C	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886951	0.72410	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.59500	0.2198	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61471	-0.7056	10	0.87932	D	0	-18.9685	20.4192	0.99033	0.0:0.0:1.0:0.0	.	396;396	Q9Y6R4-2;Q9Y6R4	.;M3K4_HUMAN	C	396	ENSP00000355886:W396C;ENSP00000375986:W396C;ENSP00000355887:W396C;ENSP00000297332:W396C	ENSP00000297332:W396C	W	+	3	0	MAP3K4	161390482	1.000000	0.71417	0.211000	0.23655	0.867000	0.49689	9.441000	0.97557	2.831000	0.97527	0.650000	0.86243	TGG		0.403	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			10	54	0	0	0	0	10	54				
MIOS	54468	broad.mit.edu	37	7	7613368	7613368	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr7:7613368C>T	ENST00000340080.4	+	4	1683	c.1262C>T	c.(1261-1263)cCa>cTa	p.P421L	MIOS_ENST00000405785.1_Missense_Mutation_p.P421L	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	421						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATGAAGATCCACAGCTCAAG	0.408																																						uc003srf.2		NA																	0					0						c.(1261-1263)CCA>CTA		missing oocyte, meiosis regulator, homolog							105.0	101.0	102.0					7																	7613368		1897	4118	6015	SO:0001583	missense	54468							g.chr7:7613368C>T		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.1262C>T	7.37:g.7613368C>T	ENSP00000339881:p.Pro421Leu					MIOS_uc010ktp.1_Missense_Mutation_p.P421L	p.P421L	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN			4	1570	+			421			WD 6.		B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.1262C>T	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.206539	0.39003	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.42900	0.96;0.96	5.7	5.7	0.88788	.	0.163209	0.56097	D	0.000035	T	0.42200	0.1192	L	0.55481	1.735	0.80722	D	1	B	0.11235	0.004	B	0.15052	0.012	T	0.25502	-1.0130	10	0.17832	T	0.49	-5.7363	20.2148	0.98293	0.0:1.0:0.0:0.0	.	421	Q9NXC5	MIO_HUMAN	L	421	ENSP00000339881:P421L;ENSP00000384088:P421L	ENSP00000339881:P421L	P	+	2	0	MIOS	7579893	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.586000	0.60984	2.850000	0.98022	0.650000	0.86243	CCA		0.408	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		19	81	0	0	0	0	19	81				
ADCY1	107	broad.mit.edu	37	7	45725669	45725669	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr7:45725669C>T	ENST00000297323.7	+	13	2204	c.2182C>T	c.(2182-2184)Cac>Tac	p.H728Y		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	728					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CGAGTCTACACACCATGCCCT	0.637																																						uc003tne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(2182-2184)CAC>TAC		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						69.0	53.0	58.0					7																	45725669		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45725669C>T	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2182C>T	7.37:g.45725669C>T	ENSP00000297323:p.His728Tyr						p.H728Y	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			13	2200	+			728			Helical; (Potential).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.2182C>T	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216537	0.39201	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.79141	-1.24	3.8	3.8	0.43715	.	0.335609	0.31279	N	0.007937	T	0.66645	0.2810	L	0.47716	1.5	0.43377	D	0.995478	B	0.09022	0.002	B	0.12156	0.007	T	0.59637	-0.7417	10	0.02654	T	1	.	13.1995	0.59758	0.0:1.0:0.0:0.0	.	728	Q08828	ADCY1_HUMAN	Y	728	ENSP00000297323:H728Y	ENSP00000297323:H728Y	H	+	1	0	ADCY1	45692194	0.999000	0.42202	0.536000	0.28039	0.904000	0.53231	5.122000	0.64697	1.934000	0.56057	0.462000	0.41574	CAC		0.637	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		16	61	0	0	0	0	16	61				
DDC	1644	broad.mit.edu	37	7	50611693	50611693	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr7:50611693G>T	ENST00000444124.2	-	2	291	c.91C>A	c.(91-93)Cct>Act	p.P31T	AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Missense_Mutation_p.P31T|DDC_ENST00000357936.5_Missense_Mutation_p.P31T|DDC_ENST00000380984.4_Missense_Mutation_p.P31T|DDC_ENST00000431062.1_Missense_Mutation_p.P31T	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	31					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	TCCACGTCAGGGTAGACCTGG	0.567																																						uc003tpf.3		NA																	0				ovary(2)	2						c.(91-93)CCT>ACT		dopa decarboxylase (aromatic L-amino acid	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						243.0	192.0	210.0					7																	50611693		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50611693G>T		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.91C>A	7.37:g.50611693G>T	ENSP00000403644:p.Pro31Thr					DDC_uc010kza.2_Missense_Mutation_p.P31T|DDC_uc003tpg.3_Missense_Mutation_p.P31T	p.P31T	NM_000790	NP_000781	P20711	DDC_HUMAN			2	177	-	Glioma(55;0.08)|all_neural(89;0.245)		31					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.91C>A	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	G	35	5.430461	0.96150	.	.	ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124;ENST00000380984	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.92	5.92	0.95590	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.74512	0.3726	M	0.92649	3.33	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.98	T	0.79822	-0.1641	10	0.87932	D	0	-0.0648	20.3248	0.98698	0.0:0.0:1.0:0.0	.	31;31	Q53Y41;P20711	.;DDC_HUMAN	T	31	ENSP00000350616:P31T;ENSP00000399184:P31T;ENSP00000395069:P31T;ENSP00000403644:P31T;ENSP00000370371:P31T	ENSP00000350616:P31T	P	-	1	0	DDC	50579187	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	9.752000	0.98900	2.818000	0.97014	0.655000	0.94253	CCT		0.567	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			28	253	1	0	1.62e-16	1.96e-16	28	253				
TYW1B	441250	broad.mit.edu	37	7	72209576	72209576	+	RNA	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr7:72209576C>G	ENST00000435769.2	-	0	1089				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438904.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										CTCGGAGCATCGACTATGACA	0.413																																						uc011kej.1		NA																	0					0						c.(967-969)GAT>CAT		tRNA-yW synthesizing protein 1 homolog B isoform							233.0	179.0	195.0					7																	72209576		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72209576C>G	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72209576C>G						TYW1B_uc011keh.1_Missense_Mutation_p.D161H|TYW1B_uc011kei.1_5'UTR|TYW1B_uc011kek.1_RNA	p.D323H	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN			8	1126	-			323					A6NG09|B4DFY2|Q3KQX2	Missense_Mutation	SNP	ENST00000435769.2	37	c.967G>C																																																																																					0.413	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		3	61	0	0	0	0	3	61				
PDAP1	11333	broad.mit.edu	37	7	99002548	99002548	+	Silent	SNP	C	C	A	rs139029496		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr7:99002548C>A	ENST00000350498.3	-	2	322	c.42G>T	c.(40-42)gcG>gcT	p.A14A		NM_014891.6	NP_055706.1	Q13442	HAP28_HUMAN	PDGFA associated protein 1	14					cell proliferation (GO:0008283)|signal transduction (GO:0007165)		poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TATACTGCCTCGCCCGGCCTT	0.632																																						uc003uqe.2		NA																	0					0						c.(40-42)GCG>GCT		PDGFA associated protein 1	Becaplermin(DB00102)						85.0	70.0	75.0					7																	99002548		2203	4300	6503	SO:0001819	synonymous_variant	11333				cell proliferation|signal transduction			g.chr7:99002548C>A	U41745	CCDS5662.1	7q	2008-07-18			ENSG00000106244	ENSG00000106244			14634	protein-coding gene	gene with protein product	"""PDGF associated protein"""	607075				8780057	Standard	NM_014891		Approved	PAP1, PAP, HASPP28	uc003uqe.3	Q13442	OTTHUMG00000154629	ENST00000350498.3:c.42G>T	7.37:g.99002548C>A							p.A14A	NM_014891	NP_055706	Q13442	HAP28_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		2	163	-	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		14					D6W5S5|Q92906	Silent	SNP	ENST00000350498.3	37	c.42G>T	CCDS5662.1																																																																																				0.632	PDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336388.2	NM_014891		16	56	1	0	0.000422831	0.000463239	16	56				
OR2A2	442361	broad.mit.edu	37	7	143806750	143806750	+	Silent	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr7:143806750C>G	ENST00000408979.2	+	1	144	c.75C>G	c.(73-75)ctC>ctG	p.L25L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TGGCGATTCTCCTCTGTGGAC	0.517																																						uc011ktz.1		NA																	0				skin(2)	2						c.(73-75)CTC>CTG		olfactory receptor, family 2, subfamily A,							148.0	144.0	145.0					7																	143806750		1995	4197	6192	SO:0001819	synonymous_variant	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143806750C>G		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.75C>G	7.37:g.143806750C>G							p.L25L	NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN			1	75	+	Melanoma(164;0.0783)		25			Helical; Name=1; (Potential).		B2RN85|Q8NGT6	Silent	SNP	ENST00000408979.2	37	c.75C>G	CCDS43671.1																																																																																				0.517	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			8	168	0	0	0	0	8	168				
GPR124	25960	broad.mit.edu	37	8	37702008	37702008	+	IGR	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr8:37702008T>C	ENST00000412232.2	+	0	5651				GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000220659.6_Nonstop_Mutation_p.*420W	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGGATATCCATCAGGGAGGGT	0.488																																						uc003xkk.2		NA																	0					0						c.(1258-1260)TGA>TGG		RNA polymerase III transcription initiation							57.0	63.0	61.0					8																	37702008		2203	4300	6503	SO:0001628	intergenic_variant	55290				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	g.chr8:37702008T>C	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182		8.37:g.37702008T>C							p.*420W	NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)		4	1370	-		Lung NSC(58;0.118)|all_lung(54;0.195)	420					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Nonstop_Mutation	SNP	ENST00000412232.2	37	c.1260A>G	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	T	13.30	2.196580	0.38806	.	.	ENSG00000104221	ENST00000220659;ENST00000545765	.	.	.	5.1	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.3125	0.26483	0.0:0.1001:0.0:0.8999	.	.	.	.	W	420;397	.	.	X	-	3	0	BRF2	37821166	0.985000	0.35326	0.163000	0.22734	0.272000	0.26649	1.623000	0.37008	0.789000	0.33779	0.459000	0.35465	TGA		0.488	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			15	44	0	0	0	0	15	44				
KHDRBS3	10656	broad.mit.edu	37	8	136554958	136554958	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr8:136554958A>T	ENST00000355849.5	+	3	679	c.269A>T	c.(268-270)gAa>gTa	p.E90V	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	90	KH.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TTACAAGAAGAAACCTTGACA	0.363																																						uc003yuv.2		NA																	0				ovary(2)	2						c.(268-270)GAA>GTA		KH domain containing, RNA binding, signal							110.0	115.0	113.0					8																	136554958		2203	4300	6503	SO:0001583	missense	10656				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr8:136554958A>T	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.269A>T	8.37:g.136554958A>T	ENSP00000348108:p.Glu90Val					KHDRBS3_uc003yuw.2_Missense_Mutation_p.E90V	p.E90V	NM_006558	NP_006549	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)		3	663	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		90			KH.		Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	c.269A>T	CCDS6374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.2|27.2	4.805491|4.805491	0.90623|0.90623	.|.	.|.	ENSG00000131773|ENSG00000131773	ENST00000355849;ENST00000524199;ENST00000517394|ENST00000524282	T;T;T|.	0.25085|.	1.82;1.82;1.82|.	5.82|5.82	5.82|5.82	0.92795|0.92795	K Homology (1);|.	0.045272|.	0.85682|.	D|.	0.000000|.	T|.	0.80824|.	0.4697|.	M|M	0.88906|0.88906	2.99|2.99	0.80722|0.80722	D|D	1|1	P;B|.	0.50943|.	0.94;0.338|.	P;B|.	0.54544|.	0.755;0.287|.	D|.	0.84148|.	0.0421|.	10|.	0.87932|.	D|.	0|.	-28.6706|-28.6706	15.3539|15.3539	0.74412|0.74412	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	90;90|.	O75525-2;O75525|.	.;KHDR3_HUMAN|.	V|X	90;62;63|5	ENSP00000348108:E90V;ENSP00000431022:E62V;ENSP00000430284:E63V|.	ENSP00000348108:E90V|.	E|K	+|+	2|1	0|0	KHDRBS3|KHDRBS3	136624140|136624140	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	9.320000|9.320000	0.96346|0.96346	2.228000|2.228000	0.72767|0.72767	0.533000|0.533000	0.62120|0.62120	GAA|AAA		0.363	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1			6	63	0	0	0	0	6	63				
APBA1	320	broad.mit.edu	37	9	72082878	72082878	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr9:72082878C>T	ENST00000265381.4	-	5	1565	c.1343G>A	c.(1342-1344)gGa>gAa	p.G448E	APBA1_ENST00000470082.1_5'Flank	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	448	Pro-rich.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTCGCAGGGTCCCGGAACTGT	0.557																																						uc004ahh.2		NA																	0				lung(1)	1						c.(1342-1344)GGA>GAA		amyloid beta A4 precursor protein-binding,							119.0	126.0	124.0					9																	72082878		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72082878C>T	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1343G>A	9.37:g.72082878C>T	ENSP00000265381:p.Gly448Glu						p.G448E	NM_001163	NP_001154	Q02410	APBA1_HUMAN			5	1619	-			448			Pro-rich.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.1343G>A	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753667	0.89753	.	.	ENSG00000107282	ENST00000265381	T	0.07216	3.21	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.33118	0.0852	M	0.77313	2.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.03364	-1.1044	10	0.87932	D	0	-6.9518	19.5724	0.95427	0.0:1.0:0.0:0.0	.	448	Q02410	APBA1_HUMAN	E	448	ENSP00000265381:G448E	ENSP00000265381:G448E	G	-	2	0	APBA1	71272698	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	7.731000	0.84895	2.690000	0.91761	0.650000	0.86243	GGA		0.557	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		65	154	0	0	0	0	65	154				
TNC	3371	broad.mit.edu	37	9	117808854	117808854	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr9:117808854T>G	ENST00000350763.4	-	17	5371	c.4960A>C	c.(4960-4962)Atc>Ctc	p.I1654L	TNC_ENST00000535648.1_Missense_Mutation_p.I1199L|TNC_ENST00000537320.1_Intron|TNC_ENST00000481475.1_5'Flank|TNC_ENST00000346706.3_Missense_Mutation_p.I1108L|TNC_ENST00000341037.4_Missense_Mutation_p.I1472L|TNC_ENST00000340094.3_Missense_Mutation_p.I1290L|TNC_ENST00000423613.2_Intron|TNC_ENST00000542877.1_Missense_Mutation_p.I1291L|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1654	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GTATCTCTGATTTTGAGAACA	0.493																																						uc004bjj.3		NA																	0				central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(4960-4962)ATC>CTC		tenascin C precursor							98.0	101.0	100.0					9																	117808854		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117808854T>G		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4960A>C	9.37:g.117808854T>G	ENSP00000265131:p.Ile1654Leu					TNC_uc010mvf.2_Intron	p.I1654L	NM_002160	NP_002151	P24821	TENA_HUMAN			17	5322	-			1654			Fibronectin type-III 12.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.4960A>C	CCDS6811.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.04|11.04	1.521487|1.521487	0.27211|0.27211	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000350763;ENST00000341037;ENST00000542877|ENST00000544972	T;T;T;T;T;T|.	0.55760|.	0.5;0.5;0.5;0.5;0.5;0.5|.	5.94|5.94	5.94|5.94	0.96194|0.96194	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.055715|.	0.64402|.	D|.	0.000002|.	T|T	0.74733|0.74733	0.3755|0.3755	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	P|.	0.40909|.	0.732|.	B|.	0.38616|.	0.277|.	T|T	0.74297|0.74297	-0.3711|-0.3711	10|5	0.51188|.	T|.	0.08|.	.|.	16.3862|16.3862	0.83505|0.83505	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1654|.	P24821|.	TENA_HUMAN|.	L|T	1290;1199;1108;1654;1472;1291|216	ENSP00000344400:I1290L;ENSP00000438152:I1199L;ENSP00000344555:I1108L;ENSP00000265131:I1654L;ENSP00000339553:I1472L;ENSP00000442242:I1291L|.	ENSP00000344400:I1290L|.	I|N	-|-	1|2	0|0	TNC|TNC	116848675|116848675	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.718000|3.718000	0.54919|0.54919	2.261000|2.261000	0.74972|0.74972	0.533000|0.533000	0.62120|0.62120	ATC|AAT		0.493	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		43	135	0	0	0	0	43	135				
PHF19	26147	broad.mit.edu	37	9	123632758	123632758	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr9:123632758C>T	ENST00000373896.3	-	4	579	c.327G>A	c.(325-327)ccG>ccA	p.P109P	PHF19_ENST00000419155.1_5'Flank|PHF19_ENST00000312189.6_Silent_p.P109P|PHF19_ENST00000487555.1_5'Flank	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	109					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTCATTCAGCGGCCCTGATG	0.627																																						uc004bks.1		NA																	0				ovary(1)|breast(1)	2						c.(325-327)CCG>CCA		PHD finger protein 19 isoform a							132.0	120.0	124.0					9																	123632758		2203	4300	6503	SO:0001819	synonymous_variant	26147				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr9:123632758C>T	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.327G>A	9.37:g.123632758C>T						PHF19_uc011lyf.1_5'Flank|PHF19_uc004bkr.2_5'Flank|PHF19_uc004bkt.2_Silent_p.P109P|PHF19_uc010mvk.2_Silent_p.P109P	p.P109P	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN			4	580	-			109			PHD-type 1.		Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Silent	SNP	ENST00000373896.3	37	c.327G>A	CCDS35116.1																																																																																				0.627	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308		24	183	0	0	0	0	24	183				
LCN1	3933	broad.mit.edu	37	9	138415134	138415134	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr9:138415134G>A	ENST00000263598.2	+	3	338	c.278G>A	c.(277-279)gGa>gAa	p.G93E	LCN1_ENST00000371781.3_Missense_Mutation_p.G93E	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	93					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		GACGAGCCGGGAAAATACACG	0.632																																						uc004cfz.1		NA																	0					0						c.(277-279)GGA>GAA		lipocalin 1 precursor							22.0	28.0	26.0					9																	138415134		2203	4300	6503	SO:0001583	missense	3933				proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	g.chr9:138415134G>A		CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"""Lipocalins"""	6525	protein-coding gene	gene with protein product	"""Von Ebner gland protein"", ""tear lipocalin"", ""lipocalin 1-like 2"", ""tear prealbumin"""	151675	"""lipocalin 1 (protein migrating faster than albumin, tear prealbumin)"", ""lipocalin 1 (tear prealbumin)"""			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.278G>A	9.37:g.138415134G>A	ENSP00000263598:p.Gly93Glu					LCN1_uc004cga.1_Missense_Mutation_p.G93E	p.G93E	NM_002297	NP_002288	P31025	LCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)	3	336	+		Myeloproliferative disorder(178;0.0511)	93					Q5T8A1	Missense_Mutation	SNP	ENST00000263598.2	37	c.278G>A	CCDS6991.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.370650	0.42003	.	.	ENSG00000160349	ENST00000263598;ENST00000371781	T;T	0.12255	2.7;2.7	3.02	2.11	0.27256	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.770342	0.10704	N	0.643631	T	0.36138	0.0956	M	0.85945	2.785	0.09310	N	1	D	0.76494	0.999	D	0.69142	0.962	T	0.08066	-1.0740	10	0.87932	D	0	.	6.2788	0.20995	0.1427:0.0:0.8573:0.0	.	93	P31025	LCN1_HUMAN	E	93	ENSP00000263598:G93E;ENSP00000360846:G93E	ENSP00000263598:G93E	G	+	2	0	LCN1	137554955	0.000000	0.05858	0.001000	0.08648	0.137000	0.21094	-0.093000	0.11111	0.842000	0.35045	0.472000	0.43445	GGA		0.632	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297		5	45	0	0	0	0	5	45				
FRMPD4	9758	broad.mit.edu	37	X	12734834	12734834	+	Silent	SNP	C	C	T	rs190804327		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:12734834C>T	ENST00000380682.1	+	15	2762	c.2256C>T	c.(2254-2256)gaC>gaT	p.D752D		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	752					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGGACGAGGACGAGGTGAGCT	0.582													C|||	6	0.0015894	0.0	0.0	3775	,	,		15540	0.005		0.0	False		,,,				2504	0.001					uc004cuz.1		NA																	0				central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						c.(2254-2256)GAC>GAT		FERM and PDZ domain containing 4							128.0	116.0	120.0					X																	12734834		2203	4300	6503	SO:0001819	synonymous_variant	9758				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chrX:12734834C>T	AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2256C>T	X.37:g.12734834C>T						FRMPD4_uc011mij.1_Silent_p.D744D	p.D752D	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN			15	2762	+			752					A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	c.2256C>T	CCDS35201.1																																																																																				0.582	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712		6	142	0	0	0	0	6	142				
KDM6A	7403	broad.mit.edu	37	X	44949094	44949094	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:44949094T>A	ENST00000377967.4	+	25	3696	c.3655T>A	c.(3655-3657)Tgg>Agg	p.W1219R	KDM6A_ENST00000382899.4_Missense_Mutation_p.W1226R|KDM6A_ENST00000536777.1_Missense_Mutation_p.W1174R|KDM6A_ENST00000543216.1_Missense_Mutation_p.W1140R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1219	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGATTTGGTCTGGATAAATGC	0.408			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NA		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		6	Whole gene deletion(6)		oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(3655-3657)TGG>AGG		ubiquitously transcribed tetratricopeptide							147.0	124.0	132.0					X																	44949094		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44949094T>A	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3655T>A	X.37:g.44949094T>A	ENSP00000367203:p.Trp1219Arg					KDM6A_uc011mkz.1_Missense_Mutation_p.W1271R|KDM6A_uc011mla.1_Missense_Mutation_p.W1174R|KDM6A_uc011mlb.1_Missense_Mutation_p.W1226R|KDM6A_uc011mlc.1_Missense_Mutation_p.W923R|KDM6A_uc011mld.1_Missense_Mutation_p.W858R	p.W1219R	NM_021140	NP_066963	O15550	KDM6A_HUMAN			25	4030	+			1219			JmjC.		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.3655T>A	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.65|18.65	3.669202|3.669202	0.67814|0.67814	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|T;T;T;T	.|0.70631	.|-0.5;-0.5;-0.5;-0.5	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85754|0.85754	0.5770|0.5770	M|M	0.87038|0.87038	2.855|2.855	0.80722|0.80722	D|D	1|1	.|D;B;P;P;P	.|0.76494	.|0.999;0.253;0.912;0.879;0.874	.|D;B;P;P;P	.|0.87578	.|0.998;0.128;0.847;0.836;0.864	D|D	0.88407|0.88407	0.3019|0.3019	5|10	.|0.87932	.|D	.|0	-5.559|-5.559	14.4811|14.4811	0.67582|0.67582	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|858;1226;1174;1271;1219	.|B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550	.|.;.;.;.;KDM6A_HUMAN	Q|R	816;861|916;1219;1174;1226;1140	.|ENSP00000367203:W1219R;ENSP00000437405:W1174R;ENSP00000372355:W1226R;ENSP00000443078:W1140R	.|ENSP00000334340:W916R	L|W	+|+	2|1	0|0	KDM6A|KDM6A	44834038|44834038	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.604000|7.604000	0.82830|0.82830	1.800000|1.800000	0.52685|0.52685	0.381000|0.381000	0.24937|0.24937	CTG|TGG		0.408	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		7	34	0	0	0	0	7	34				
CLCN5	1184	broad.mit.edu	37	X	49854987	49854987	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:49854987G>A	ENST00000307367.2	+	10	2040	c.1749G>A	c.(1747-1749)atG>atA	p.M583I	CLCN5_ENST00000376108.3_Missense_Mutation_p.M583I|CLCN5_ENST00000376088.3_Missense_Mutation_p.M653I|CLCN5_ENST00000376091.3_Missense_Mutation_p.M653I			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	583					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CCCTGGCAATGGATGTGATGA	0.468																																						uc004dos.1		NA																	0				ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1747-1749)ATG>ATA		chloride channel 5 isoform b							118.0	94.0	102.0					X																	49854987		2203	4300	6503	SO:0001583	missense	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49854987G>A	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1749G>A	X.37:g.49854987G>A	ENSP00000304257:p.Met583Ile					CLCN5_uc004dor.1_Missense_Mutation_p.M653I|CLCN5_uc004doq.1_Missense_Mutation_p.M653I|CLCN5_uc004dot.1_Missense_Mutation_p.M583I	p.M583I	NM_000084	NP_000075	P51795	CLCN5_HUMAN			10	1997	+	Ovarian(276;0.236)		583			Cytoplasmic (By similarity).		A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	c.1749G>A	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940463	0.34283	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99	5.78	5.78	0.91487	.	0.076864	0.85682	D	0.000000	T	0.78698	0.4324	L	0.36672	1.1	0.49483	D	0.999793	B;B	0.15719	0.0;0.014	B;B	0.06405	0.0;0.002	T	0.73167	-0.4068	10	0.36615	T	0.2	-7.289	12.7175	0.57123	0.0:0.0:0.8356:0.1644	.	583;653	P51795;P51795-2	CLCN5_HUMAN;.	I	653;485;653;583;583	ENSP00000365256:M653I;ENSP00000365259:M653I;ENSP00000365276:M583I;ENSP00000304257:M583I	ENSP00000304257:M583I	M	+	3	0	CLCN5	49741727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.598000	0.46223	2.441000	0.82636	0.594000	0.82650	ATG		0.468	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			4	65	0	0	0	0	4	65				
KLHL4	56062	broad.mit.edu	37	X	86888820	86888820	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:86888820G>A	ENST00000373119.4	+	8	1766	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	KLHL4_ENST00000373114.4_Missense_Mutation_p.E541K	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	541						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						AAATACTGTAGAAAGATGGGA	0.413																																						uc004efb.2		NA																	0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1621-1623)GAA>AAA		kelch-like 4 isoform 1							149.0	120.0	130.0					X																	86888820		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86888820G>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1621G>A	X.37:g.86888820G>A	ENSP00000362211:p.Glu541Lys					KLHL4_uc004efa.2_Missense_Mutation_p.E541K	p.E541K	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			8	1803	+			541			Kelch 3.		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1621G>A	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139685	0.94560	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	D;D	0.84516	-1.86;-1.86	4.72	4.72	0.59763	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.95497	0.8537	H	0.98487	4.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.97447	1.0025	10	0.87932	D	0	.	15.7654	0.78123	0.0:0.0:1.0:0.0	.	541;541	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	K	541	ENSP00000362211:E541K;ENSP00000362206:E541K	ENSP00000362206:E541K	E	+	1	0	KLHL4	86775476	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.012000	0.93624	2.174000	0.68829	0.506000	0.49869	GAA		0.413	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			4	59	0	0	0	0	4	59				
GPRASP2	114928	broad.mit.edu	37	X	101971267	101971267	+	Silent	SNP	C	C	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:101971267C>T	ENST00000535209.1	+	4	2301	c.1470C>T	c.(1468-1470)acC>acT	p.T490T	GPRASP2_ENST00000332262.5_Silent_p.T490T|GPRASP2_ENST00000543253.1_Silent_p.T490T			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	490						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GGCCCCAAACCTGGGACGAGG	0.507																																						uc004ejk.2		NA																	0				ovary(1)	1						c.(1468-1470)ACC>ACT		G protein-coupled receptor associated sorting							100.0	94.0	96.0					X																	101971267		2203	4300	6503	SO:0001819	synonymous_variant	114928					cytoplasm	protein binding	g.chrX:101971267C>T	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1470C>T	X.37:g.101971267C>T						GPRASP2_uc004ejl.2_Silent_p.T490T|GPRASP2_uc004ejm.2_Silent_p.T490T|GPRASP2_uc011mrp.1_5'Flank	p.T490T	NM_138437	NP_612446	Q96D09	GASP2_HUMAN			4	2804	+			490					D3DXA0|Q8NAB4	Silent	SNP	ENST00000535209.1	37	c.1470C>T	CCDS14501.1																																																																																				0.507	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		30	121	0	0	0	0	30	121				
PRPS1	5631	broad.mit.edu	37	X	106888430	106888430	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:106888430T>C	ENST00000372435.4	+	5	676	c.554T>C	c.(553-555)cTg>cCg	p.L185P	PRPS1_ENST00000372418.1_Missense_Mutation_p.L85P|PRPS1_ENST00000543248.1_Missense_Mutation_p.L185P|PRPS1_ENST00000372428.4_Missense_Mutation_p.L118P	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	185					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|hypoxanthine biosynthetic process (GO:0046101)|nervous system development (GO:0007399)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|pyrimidine nucleotide biosynthetic process (GO:0006221)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|urate biosynthetic process (GO:0034418)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						GCAGACAGGCTGAATGTGGAC	0.502																																						uc004ene.3		NA																	0				breast(3)|large_intestine(1)	4						c.(553-555)CTG>CCG		phosphoribosyl pyrophosphate synthetase 1							211.0	188.0	196.0					X																	106888430		2203	4300	6503	SO:0001583	missense	5631				5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:106888430T>C	X15331	CCDS14529.1, CCDS76007.1	Xq22.3	2014-09-17			ENSG00000147224	ENSG00000147224	2.7.6.1		9462	protein-coding gene	gene with protein product	"""PRS I"", ""ribose-phosphate diphosphokinase 1"""	311850	"""deafness, X-linked 2, perceptive, congenital"""	DFN2		1962753, 20021999	Standard	NM_002764		Approved	CMTX5, DFNX1	uc004ene.4	P60891	OTTHUMG00000022167	ENST00000372435.4:c.554T>C	X.37:g.106888430T>C	ENSP00000361512:p.Leu185Pro					PRPS1_uc010npg.2_Missense_Mutation_p.L152P|PRPS1_uc011msj.1_5'UTR	p.L185P	NM_002764	NP_002755	P60891	PRPS1_HUMAN			5	759	+			185					B1ALA8|B2R6T7|B4DNL6|D3DUX6|P09329	Missense_Mutation	SNP	ENST00000372435.4	37	c.554T>C	CCDS14529.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.046865	0.75846	.	.	ENSG00000147224	ENST00000372435;ENST00000372428;ENST00000543248;ENST00000372418	D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.18	5.02	5.02	0.67125	Phosphoribosyltransferase (1);	0.000000	0.64402	D	0.000001	D	0.98090	0.9370	H	0.98786	4.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99107	1.0845	10	0.87932	D	0	.	13.4414	0.61114	0.0:0.0:0.0:1.0	.	185;185	Q53FW2;P60891	.;PRPS1_HUMAN	P	185;118;185;85	ENSP00000361512:L185P;ENSP00000361505:L118P;ENSP00000443185:L185P;ENSP00000361495:L85P	ENSP00000361495:L85P	L	+	2	0	PRPS1	106775086	1.000000	0.71417	0.996000	0.52242	0.972000	0.66771	7.603000	0.82811	1.928000	0.55862	0.486000	0.48141	CTG		0.502	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057840.1			9	286	0	0	0	0	9	286				
IRS4	8471	broad.mit.edu	37	X	107978579	107978579	+	Silent	SNP	A	A	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:107978579A>G	ENST00000372129.2	-	1	1072	c.996T>C	c.(994-996)tgT>tgC	p.C332C	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	332	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						ATTCGTCTGCACACAAGGCTC	0.587																																						uc004eoc.2		NA																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(994-996)TGT>TGC		insulin receptor substrate 4							172.0	166.0	168.0					X																	107978579		2203	4300	6503	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107978579A>G	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.996T>C	X.37:g.107978579A>G							p.C332C	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	1029	-			332			IRS-type PTB.			Silent	SNP	ENST00000372129.2	37	c.996T>C	CCDS14544.1																																																																																				0.587	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		100	199	0	0	0	0	100	199				
DCX	1641	broad.mit.edu	37	X	110644290	110644290	+	Silent	SNP	G	G	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:110644290G>C	ENST00000338081.3	-	3	1047	c.876C>G	c.(874-876)ctC>ctG	p.L292L	DCX_ENST00000371993.2_Silent_p.L211L|DCX_ENST00000356915.2_Silent_p.L211L|DCX_ENST00000488120.1_Silent_p.L211L|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Silent_p.L211L	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	292	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TGATATCAGTGAGGACTTGCT	0.493																																						uc004epd.2		NA																	0				central_nervous_system(2)|lung(1)|skin(1)	4						c.(874-876)CTC>CTG		doublecortin isoform a							122.0	117.0	118.0					X																	110644290		2203	4300	6503	SO:0001819	synonymous_variant	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110644290G>C	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.876C>G	X.37:g.110644290G>C						DCX_uc011msv.1_Silent_p.L292L|DCX_uc004epe.2_Silent_p.L211L|DCX_uc004epf.2_Silent_p.L211L|DCX_uc004epg.2_Silent_p.L211L	p.L292L	NM_000555	NP_000546	O43602	DCX_HUMAN			3	1048	-			292			Doublecortin 2.		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Silent	SNP	ENST00000338081.3	37	c.876C>G	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	G	2.067	-0.414002	0.04799	.	.	ENSG00000077279	ENST00000358070	.	.	.	4.74	1.71	0.24356	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4593	0.38774	0.0788:0.2617:0.6596:0.0	.	.	.	.	X	284	.	.	S	-	2	0	DCX	110530946	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	1.851000	0.39338	0.487000	0.27698	-0.192000	0.12808	TCA		0.493	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		62	100	0	0	0	0	62	100				
ALG13	79868	broad.mit.edu	37	X	110979971	110979971	+	Silent	SNP	T	T	C			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:110979971T>C	ENST00000394780.3	+	23	2571	c.2559T>C	c.(2557-2559)gcT>gcC	p.A853A	ALG13_ENST00000251943.4_Silent_p.A749A|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	853					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						CAGTTGCAGCTTCCTGTGCCA	0.403																																						uc011msy.1		NA																	0				lung(1)	1						c.(2557-2559)GCT>GCC		SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);							208.0	175.0	185.0					X																	110979971		1568	3582	5150	SO:0001819	synonymous_variant	79868				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chrX:110979971T>C	AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2559T>C	X.37:g.110979971T>C						ALG13_uc011msx.1_Silent_p.A749A|ALG13_uc011msz.1_Silent_p.A775A|ALG13_uc011mta.1_Silent_p.A749A|ALG13_uc011mtb.1_Silent_p.A749A	p.A853A			Q9NP73	ALG13_HUMAN			23	2593	+			853					B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Silent	SNP	ENST00000394780.3	37	c.2559T>C	CCDS55477.1																																																																																				0.403	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1	NM_018466		21	171	0	0	0	0	21	171				
AKAP14	158798	broad.mit.edu	37	X	119054501	119054501	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:119054501G>T	ENST00000371431.3	+	7	799	c.525G>T	c.(523-525)tgG>tgT	p.W175C	AKAP14_ENST00000491105.1_3'UTR|RP3-327A19.5_ENST00000455986.1_RNA|AKAP14_ENST00000371425.4_Missense_Mutation_p.W115C|AKAP14_ENST00000371423.2_Missense_Mutation_p.W116C|AKAP14_ENST00000334356.2_Missense_Mutation_p.W115C	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	175					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				endometrium(4)|large_intestine(1)|lung(8)	13						GAGAAAACTGGCAGAAGAATC	0.338																																						uc004ese.2		NA																	0					0						c.(523-525)TGG>TGT		A kinase (PRKA) anchor protein 14 isoform a							155.0	121.0	132.0					X																	119054501		2203	4300	6503	SO:0001583	missense	158798					cytoplasm		g.chrX:119054501G>T	AF514780	CCDS14591.1, CCDS35376.1, CCDS35377.1	Xq24	2008-02-05			ENSG00000186471	ENSG00000186471		"""A-kinase anchor proteins"""	24061	protein-coding gene	gene with protein product		300462				12475942	Standard	NM_178813		Approved	AKAP28	uc004ese.3	Q86UN6	OTTHUMG00000022285	ENST00000371431.3:c.525G>T	X.37:g.119054501G>T	ENSP00000360485:p.Trp175Cys					AKAP14_uc004esf.2_Missense_Mutation_p.W115C	p.W175C	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN			7	663	+			175					A6NNZ0|Q86UN4|Q86UN5	Missense_Mutation	SNP	ENST00000371431.3	37	c.525G>T	CCDS14591.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.558911	0.45590	.	.	ENSG00000186471	ENST00000371431;ENST00000371423;ENST00000371425;ENST00000334356	.	.	.	4.96	4.09	0.47781	.	0.209202	0.34750	N	0.003716	T	0.65954	0.2741	M	0.66939	2.045	0.80722	D	1	P;P	0.52061	0.754;0.95	B;P	0.52031	0.245;0.688	T	0.70260	-0.4921	9	0.87932	D	0	-0.6798	13.5635	0.61804	0.0:0.1532:0.8468:0.0	.	115;175	A6NNZ0;Q86UN6	.;AKA28_HUMAN	C	175;116;115;115	.	ENSP00000334680:W115C	W	+	3	0	AKAP14	118938529	1.000000	0.71417	0.030000	0.17652	0.010000	0.07245	2.977000	0.49297	1.005000	0.39183	0.600000	0.82982	TGG		0.338	AKAP14-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058078.1	NM_178813		19	39	1	0	1.16e-05	1.34e-05	19	39				
CUL4B	8450	broad.mit.edu	37	X	119666336	119666336	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:119666336C>G	ENST00000404115.3	-	20	2835	c.2434G>C	c.(2434-2436)Gat>Cat	p.D812H	CUL4B_ENST00000371322.5_Missense_Mutation_p.D794H|CUL4B_ENST00000336592.6_Missense_Mutation_p.D799H	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	812					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTGAAATCATCATTACAAATG	0.368																																						uc004esw.2		NA																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(2434-2436)GAT>CAT		cullin 4B isoform 1							144.0	124.0	131.0					X																	119666336		2203	4300	6503	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119666336C>G	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2434G>C	X.37:g.119666336C>G	ENSP00000384109:p.Asp812His					CUL4B_uc010nqq.2_Missense_Mutation_p.D513H|CUL4B_uc004esv.2_Missense_Mutation_p.D794H	p.D812H	NM_003588	NP_003579	Q13620	CUL4B_HUMAN			20	2871	-			812					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.2434G>C	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797299	0.70567	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.74632	-0.86;-0.86;-0.86	5.24	5.24	0.73138	Cullin, N-terminal (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin homology (1);	0.047720	0.85682	D	0.000000	T	0.73590	0.3606	L	0.35854	1.095	0.80722	D	1	B;P;P	0.45283	0.009;0.855;0.825	B;P;P	0.49332	0.015;0.607;0.472	T	0.71991	-0.4425	9	.	.	.	-15.0865	16.8778	0.86056	0.0:1.0:0.0:0.0	.	616;812;794	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	H	794;799;812	ENSP00000360373:D794H;ENSP00000338919:D799H;ENSP00000384109:D812H	.	D	-	1	0	CUL4B	119550364	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.726000	0.68515	2.191000	0.70037	0.513000	0.50165	GAT		0.368	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		15	45	0	0	0	0	15	45				
GRIA3	2892	broad.mit.edu	37	X	122459926	122459926	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:122459926G>T	ENST00000371251.1	+	4	610	c.558G>T	c.(556-558)tgG>tgT	p.W186C	GRIA3_ENST00000542149.1_Missense_Mutation_p.W186C|GRIA3_ENST00000371256.5_Missense_Mutation_p.W186C|GRIA3_ENST00000264357.5_Missense_Mutation_p.W186C|GRIA3_ENST00000541091.1_Missense_Mutation_p.W170C			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	186					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	AAAACAACTGGCAAGTAACAG	0.418																																						uc004etq.3		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(556-558)TGG>TGT		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						113.0	92.0	99.0					X																	122459926		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122459926G>T	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.558G>T	X.37:g.122459926G>T	ENSP00000360297:p.Trp186Cys					GRIA3_uc004etr.3_Missense_Mutation_p.W186C|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.W170C	p.W186C	NM_007325	NP_015564	P42263	GRIA3_HUMAN			5	851	+			186			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.558G>T	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131669	0.77662	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.66	5.66	0.87406	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.46308	0.1386	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	T	0.41805	-0.9488	10	0.87932	D	0	.	17.5898	0.87992	0.0:0.0:1.0:0.0	.	170;186;186	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	C	186;186;186;186;170	ENSP00000264357:W186C;ENSP00000446146:W186C;ENSP00000360302:W186C;ENSP00000360297:W186C;ENSP00000446440:W170C	ENSP00000264357:W186C	W	+	3	0	GRIA3	122287607	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.444000	0.97578	2.370000	0.80446	0.600000	0.82982	TGG		0.418	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		15	46	1	0	0.000308642	0.000339295	15	46				
PLXNA3	55558	broad.mit.edu	37	X	153698126	153698126	+	Splice_Site	SNP	C	C	T	rs200031701		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chrX:153698126C>T	ENST00000369682.3	+	28	4969	c.4794C>T	c.(4792-4794)taC>taT	p.Y1598Y	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1598					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCAGCCGCTACGGTAGGTGTC	0.582													c|||	1	0.000264901	0.0	0.0014	3775	,	,		11545	0.0		0.0	False		,,,				2504	0.0					uc004flm.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(4792-4794)TAC>TAT		plexin A3 precursor				0,3835		0,0,1632,571	94.0	78.0	84.0		4794	-2.5	1.0	X		84	2,6725		0,2,2426,1871	no	coding-synonymous-near-splice	PLXNA3	NM_017514.3		0,2,4058,2442	TT,TC,CC,C		0.0297,0.0,0.0189		1598/1872	153698126	2,10560	2203	4299	6502	SO:0001630	splice_region_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153698126C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4795+1C>T	X.37:g.153698126C>T							p.Y1598Y	NM_017514	NP_059984	P51805	PLXA3_HUMAN			28	4967	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1598			Cytoplasmic (Potential).		Q5HY36	Silent	SNP	ENST00000369682.3	37	c.4794C>T	CCDS14752.1																																																																																				0.582	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514	Silent	17	49	0	0	0	0	17	49				
OR10X1	128367	broad.mit.edu	37	1	158548862	158548862	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:158548862delC	ENST00000368150.1	-	1	827	c.828delG	c.(826-828)ttgfs	p.L276fs		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CTTCTGGCTTCAAATAAACAA	0.493																																						uc010pin.1		NA																	0				ovary(1)	1						c.(826-828)TTGfs		olfactory receptor, family 10, subfamily X,							112.0	117.0	115.0					1																	158548862		2203	4300	6503	SO:0001589	frameshift_variant	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158548862delC	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.828delG	1.37:g.158548862delC	ENSP00000357132:p.Leu276fs						p.L276fs	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			1	828	-	all_hematologic(112;0.0378)		276			Extracellular (Potential).		Q6IFR8	Frame_Shift_Del	DEL	ENST00000368150.1	37	c.828delG	CCDS30900.1																																																																																				0.493	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		11	130	NA	NA	NA	NA	11	130	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235972380	235972385	+	In_Frame_Del	DEL	TGTTAT	TGTTAT	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr1:235972380_235972385delTGTTAT	ENST00000389794.3	-	5	1907_1912	c.1733_1738delATAACA	c.(1732-1740)cataacatt>ctt	p.578_580HNI>L	LYST_ENST00000536965.1_In_Frame_Del_p.578_580HNI>L|LYST_ENST00000389793.2_In_Frame_Del_p.578_580HNI>L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	578					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CATATTCCAATGTTATGAACACCCGA	0.442																																						uc001hxj.2		NA																	0				ovary(6)|breast(4)|central_nervous_system(2)	12						c.(1732-1740)CATAACATT>CTT		lysosomal trafficking regulator																																				SO:0001651	inframe_deletion	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235972380_235972385delTGTTAT	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.1733_1738delATAACA	1.37:g.235972380_235972385delTGTTAT	ENSP00000374444:p.His578_Ile580delinsLeu					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_In_Frame_Del_p.578_580HNI>L	p.578_580HNI>L	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	1908_1913	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	578_580					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	In_Frame_Del	DEL	ENST00000389794.3	37	c.1733_1738delATAACA	CCDS31062.1																																																																																				0.442	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			7	134	NA	NA	NA	NA	7	134	---	---	---	---
TRIM21	6737	broad.mit.edu	37	11	4406682	4406684	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:4406682_4406684delAGA	ENST00000254436.7	-	7	1371_1373	c.1259_1261delTCT	c.(1258-1263)ttctac>tac	p.F420del	TRIM21_ENST00000543625.1_In_Frame_Del_p.F420del	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	420	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GTGATGTTGTAGAAGGAGACCAT	0.532																																						uc001lyy.1		NA																	0				ovary(3)|lung(1)	4						c.(1258-1263)TTCTAC>TAC		tripartite motif protein 21																																				SO:0001651	inframe_deletion	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4406682_4406684delAGA	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.1259_1261delTCT	11.37:g.4406682_4406684delAGA	ENSP00000254436:p.Phe420del						p.F420del	NM_003141	NP_003132	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	7	1372_1374	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	420			B30.2/SPRY.		Q5XPV5|Q96RF8	In_Frame_Del	DEL	ENST00000254436.7	37	c.1259_1261delTCT	CCDS44525.1																																																																																				0.532	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		7	12	NA	NA	NA	NA	7	12	---	---	---	---
VPS37C	55048	broad.mit.edu	37	11	60899313	60899313	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr11:60899313delC	ENST00000301765.5	-	5	1279	c.1047delG	c.(1045-1047)gggfs	p.G349fs		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	349	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GCCAGGCAGGCCCCGGCGGTG	0.697																																						uc001nqv.1		NA																	0					0						c.(1045-1047)GGGfs		vacuolar protein sorting 37C							4.0	4.0	4.0					11																	60899313		1947	3954	5901	SO:0001589	frameshift_variant	55048				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr11:60899313delC	AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"""vacuolar protein sorting 37C (yeast)"""			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.1047delG	11.37:g.60899313delC	ENSP00000301765:p.Gly349fs						p.G349fs	NM_017966	NP_060436	A5D8V6	VP37C_HUMAN			5	1107	-			349			Pro-rich.		Q8N3K4	Frame_Shift_Del	DEL	ENST00000301765.5	37	c.1047delG	CCDS31573.1																																																																																				0.697	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396467.1	NM_017966		2	4	NA	NA	NA	NA	2	4	---	---	---	---
KRT73	319101	broad.mit.edu	37	12	53007615	53007616	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:53007615_53007616delGG	ENST00000305748.3	-	5	874_875	c.840_841delCC	c.(838-843)tcccacfs	p.H281fs	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	281	Linker 12.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGCTGATGTGGGACTGGATCT	0.559																																						uc001sas.2		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(838-843)TCCCACfs		keratin 73																																				SO:0001589	frameshift_variant	319101					keratin filament	structural molecule activity	g.chr12:53007615_53007616delGG	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.840_841delCC	12.37:g.53007615_53007616delGG	ENSP00000307014:p.His281fs						p.S280fs	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	875_876	-			280_281			Rod.|Linker 12.		Q32MB2	Frame_Shift_Del	DEL	ENST00000305748.3	37	c.840_841delCC	CCDS8834.1																																																																																				0.559	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		11	141	NA	NA	NA	NA	11	141	---	---	---	---
STAC3	246329	broad.mit.edu	37	12	57640658	57640659	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr12:57640658_57640659delAC	ENST00000332782.2	-	6	732_733	c.531_532delGT	c.(529-534)gtgtttfs	p.F178fs	STAC3_ENST00000554578.1_Frame_Shift_Del_p.F139fs|STAC3_ENST00000546246.2_5'UTR	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	178					intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						AGGGTTTCAAACACAGGATCAT	0.51																																						uc001snp.2		NA																	0				ovary(2)|skin(1)	3						c.(529-534)GTGTTTfs		SH3 and cysteine rich domain 3																																				SO:0001589	frameshift_variant	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57640658_57640659delAC	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.531_532delGT	12.37:g.57640660_57640661delAC	ENSP00000329200:p.Phe178fs					STAC3_uc009zpl.2_5'UTR|STAC3_uc001snq.2_Frame_Shift_Del_p.V138fs|STAC3_uc010srm.1_5'UTR	p.V177fs	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN			6	726_727	-			177_178					B4DUK9|Q96HU5	Frame_Shift_Del	DEL	ENST00000332782.2	37	c.531_532delGT	CCDS8936.1																																																																																				0.510	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064		52	151	NA	NA	NA	NA	52	151	---	---	---	---
AJUBA	84962	broad.mit.edu	37	14	23450563	23450563	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr14:23450563delC	ENST00000262713.2	-	1	1288	c.913delG	c.(913-915)gagfs	p.E305fs	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Frame_Shift_Del_p.E305fs|RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000555294.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	305	PreLIM.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										CCCGACGGCTCAATCCCCGAG	0.697																																						uc001whz.2		NA																	0					0						c.(913-915)GAGfs		ajuba isoform 1							19.0	24.0	22.0					14																	23450563		2199	4297	6496	SO:0001589	frameshift_variant	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23450563delC	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.913delG	14.37:g.23450563delC	ENSP00000262713:p.Glu305fs						p.E305fs	NM_032876	NP_116265	Q96IF1	JUB_HUMAN		GBM - Glioblastoma multiforme(265;0.0122)	1	1289	-	all_cancers(95;4.6e-05)		305			PreLIM.		A8MX18|D3DS37	Frame_Shift_Del	DEL	ENST00000262713.2	37	c.913delG	CCDS9581.1																																																																																				0.697	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2			11	13	NA	NA	NA	NA	11	13	---	---	---	---
DOCK6	57572	broad.mit.edu	37	19	11313343	11313343	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr19:11313343delG	ENST00000294618.7	-	42	5289	c.5278delC	c.(5278-5280)cacfs	p.H1760fs	DOCK6_ENST00000319867.7_Frame_Shift_Del_p.H1099fs|DOCK6_ENST00000586702.1_5'UTR|CTC-510F12.2_ENST00000588634.1_RNA	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1760	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TCACCGAAGTGGGCGCCGTAG	0.617																																						uc002mqs.3		NA																	0				ovary(2)|skin(1)	3						c.(5278-5280)CACfs		dedicator of cytokinesis 6							114.0	120.0	118.0					19																	11313343		2026	4172	6198	SO:0001589	frameshift_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11313343delG		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.5278delC	19.37:g.11313343delG	ENSP00000294618:p.His1760fs					DOCK6_uc002mqr.3_Frame_Shift_Del_p.H160fs|DOCK6_uc010xlq.1_Frame_Shift_Del_p.H1099fs	p.H1760fs	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN			42	5319	-			1760			DHR-2.		A6H8X5|Q7Z7P4|Q9P2F2	Frame_Shift_Del	DEL	ENST00000294618.7	37	c.5278delC	CCDS45975.1																																																																																				0.617	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		7	209	NA	NA	NA	NA	7	209	---	---	---	---
FBXO48	554251	broad.mit.edu	37	2	68691399	68691400	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr2:68691399_68691400delAT	ENST00000377957.3	-	4	816_817	c.409_410delAT	c.(409-411)atgfs	p.M137fs		NM_001024680.1	NP_001019851.1	Q5FWF7	FBX48_HUMAN	F-box protein 48	137										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						CATTGGGTACATGATTTTTTCT	0.391																																						uc002seo.2		NA																	0					0						c.(409-411)ATGfs		F-box protein 48																																				SO:0001589	frameshift_variant	554251							g.chr2:68691399_68691400delAT	BC089423	CCDS33213.1	2p13.3	2011-03-09			ENSG00000204923	ENSG00000204923		"""F-boxes /  ""other"""""	33857	protein-coding gene	gene with protein product							Standard	XM_005264407		Approved		uc002seo.3	Q5FWF7	OTTHUMG00000152585	ENST00000377957.3:c.409_410delAT	2.37:g.68691399_68691400delAT	ENSP00000367193:p.Met137fs						p.M137fs	NM_001024680	NP_001019851	Q5FWF7	FBX48_HUMAN			4	817_818	-			137						Frame_Shift_Del	DEL	ENST00000377957.3	37	c.409_410delAT	CCDS33213.1																																																																																				0.391	FBXO48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326900.2	NM_001024680		16	205	NA	NA	NA	NA	16	205	---	---	---	---
TPD52L1	7164	broad.mit.edu	37	6	125541335	125541345	+	Splice_Site	DEL	TTCAGGTATGT	TTCAGGTATGT	-	rs111553148		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr6:125541335_125541345delTTCAGGTATGT	ENST00000534000.1	+	2	427_431	c.131_135delTTCAGGTATGT	c.(130-135)gttcag>g	p.VQ44fs	TPD52L1_ENST00000304877.13_Splice_Site_p.VQ44fs|TPD52L1_ENST00000534199.1_Splice_Site_p.VQ15fs|TPD52L1_ENST00000368402.5_Splice_Site_p.VQ44fs|TPD52L1_ENST00000528193.1_Splice_Site_p.VQ44fs|TPD52L1_ENST00000392482.2_Splice_Site_p.VQ15fs|TPD52L1_ENST00000532429.1_Splice_Site_p.VQ15fs|TPD52L1_ENST00000368388.2_Splice_Site_p.VQ44fs|TPD52L1_ENST00000524679.1_Splice_Site_p.VQ15fs|TPD52L1_ENST00000527711.1_Splice_Site_p.VQ44fs|HDDC2_ENST00000608456.1_Intron	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	44					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		GCAGAGTTAGTTCAGGTATGTTTAGTAATCT	0.355																																						uc003pzu.1		NA																	0					0						c.e2+1		tumor protein D52-like 1 isoform 1																																				SO:0001630	splice_region_variant	7164				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity	g.chr6:125541335_125541345delTTCAGGTATGT	U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.135+1TTCAGGTATGT>-	6.37:g.125541335_125541345delTTCAGGTATGT						TPD52L1_uc003pzv.1_Splice_Site_p.Q45_splice|TPD52L1_uc003pzw.1_Splice_Site_p.Q45_splice|TPD52L1_uc003pzx.1_Splice_Site_p.Q16_splice|TPD52L1_uc003pzy.1_Splice_Site_p.Q16_splice|TPD52L1_uc003pzz.1_Splice_Site_p.Q16_splice	p.Q45_splice	NM_003287	NP_003278	Q16890	TPD53_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)	2	354	+								A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Splice_Site	DEL	ENST00000534000.1	37	c.135_splice	CCDS5130.1																																																																																				0.355	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042065.2		Frame_Shift_Del	9	78	NA	NA	NA	NA	9	78	---	---	---	---
DEPTOR	64798	broad.mit.edu	37	8	120977486	120977486	+	Frame_Shift_Del	DEL	A	A	-	rs35198895		TCGA-CV-7177-01A-11D-2012-08	TCGA-CV-7177-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c984165c-88ea-4840-a980-be818db16820	cc2cb7ff-1c89-4a0b-b833-9d9a6848293d	g.chr8:120977486delA	ENST00000286234.5	+	4	570	c.440delA	c.(439-441)gaafs	p.E147fs	DEPTOR_ENST00000523492.1_Frame_Shift_Del_p.E46fs	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	147	DEP 2. {ECO:0000255|PROSITE- ProRule:PRU00066}.				intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						ATGAGCCCTGAAAACACACTC	0.468																																						uc003yow.3		NA																	0					0						c.(439-441)GAAfs		DEP domain containing 6							82.0	76.0	78.0					8																	120977486		2203	4300	6503	SO:0001589	frameshift_variant	64798				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding	g.chr8:120977486delA		CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"""DEP domain containing 6"""	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.440delA	8.37:g.120977486delA	ENSP00000286234:p.Glu147fs					DEPDC6_uc011lid.1_Frame_Shift_Del_p.E46fs	p.E147fs	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		4	627	+	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		147			DEP 2.		B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Frame_Shift_Del	DEL	ENST00000286234.5	37	c.440delA	CCDS6331.1																																																																																				0.468	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1	NM_022783		7	56	NA	NA	NA	NA	7	56	---	---	---	---
