#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
KIAA2013	90231	broad.mit.edu	37	1	11985515	11985515	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:11985515G>A	ENST00000376572.3	-	1	965	c.780C>T	c.(778-780)caC>caT	p.H260H	KIAA2013_ENST00000376576.3_Silent_p.H260H	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	260						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCACCAGGTGCACCAACC	0.647																																						uc001atk.2		NA																	0				ovary(1)	1						c.(778-780)CAC>CAT		hypothetical protein LOC90231 precursor							10.0	11.0	11.0					1																	11985515		2183	4251	6434	SO:0001819	synonymous_variant	90231					integral to membrane		g.chr1:11985515G>A	AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.780C>T	1.37:g.11985515G>A						KIAA2013_uc001atl.1_Silent_p.H260H	p.H260H	NM_138346	NP_612355	Q8IYS2	K2013_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	974	-	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)	260			Extracellular (Potential).		Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Silent	SNP	ENST00000376572.3	37	c.780C>T	CCDS141.1																																																																																				0.647	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006858.1	NM_138346		10	41	0	0	0	0	10	41				
LDLRAD2	401944	broad.mit.edu	37	1	22141157	22141157	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:22141157G>A	ENST00000344642.2	+	2	539	c.352G>A	c.(352-354)Ggc>Agc	p.G118S	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.G118S	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	118						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		GTTCTACGAgggcccgccggg	0.751																																						uc001bfg.1		NA																	0					0						c.(352-354)GGC>AGC		low density lipoprotein receptor class A domain							4.0	6.0	5.0					1																	22141157		1885	3769	5654	SO:0001583	missense	401944					integral to membrane	receptor activity	g.chr1:22141157G>A	AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 2"""				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.352G>A	1.37:g.22141157G>A	ENSP00000340988:p.Gly118Ser						p.G118S	NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	2	539	+		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	118			Extracellular (Potential).		B9EJB3|Q6ZSN5	Missense_Mutation	SNP	ENST00000344642.2	37	c.352G>A	CCDS30624.1	.	.	.	.	.	.	.	.	.	.	G	35	5.495572	0.96355	.	.	ENSG00000187942	ENST00000344642;ENST00000543870	T;T	0.60299	0.2;0.2	4.3	4.3	0.51218	CUB (2);	0.000000	0.56097	D	0.000023	T	0.71039	0.3293	L	0.59436	1.845	0.42169	D	0.991632	D	0.76494	0.999	D	0.75020	0.985	T	0.74699	-0.3577	10	0.66056	D	0.02	-17.7001	14.2803	0.66208	0.0:0.0:1.0:0.0	.	118	Q5SZI1	LRAD2_HUMAN	S	118	ENSP00000340988:G118S;ENSP00000444097:G118S	ENSP00000340988:G118S	G	+	1	0	LDLRAD2	22013744	1.000000	0.71417	0.968000	0.41197	0.947000	0.59692	8.052000	0.89448	2.234000	0.73211	0.448000	0.29417	GGC		0.751	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007601.1	NM_001013693		4	16	0	0	0	0	4	16				
SRSF4	6429	broad.mit.edu	37	1	29475301	29475301	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:29475301C>T	ENST00000373795.4	-	6	1340	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	SRSF4_ENST00000466448.1_5'UTR|RP11-242O24.3_ENST00000413004.1_lincRNA|SRSF4_ENST00000546138.1_3'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	369	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						gctgcggctgcgactgcgact	0.612																																						uc001bro.2		NA																	0					0						c.(1105-1107)CGC>CAC		splicing factor, arginine/serine-rich 4							40.0	38.0	39.0					1																	29475301		2203	4300	6503	SO:0001583	missense	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29475301C>T	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.1106G>A	1.37:g.29475301C>T	ENSP00000362900:p.Arg369His					SFRS4_uc010ofy.1_3'UTR	p.R369H	NM_005626	NP_005617	Q08170	SRSF4_HUMAN		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)	6	1479	-		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)	369			Arg/Ser-rich (RS domain).		Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	37	c.1106G>A	CCDS333.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.706348	0.30232	.	.	ENSG00000116350	ENST00000373795;ENST00000434636	T	0.17054	2.3	5.62	4.71	0.59529	.	0.169025	0.45606	D	0.000345	T	0.16896	0.0406	L	0.43152	1.355	0.80722	D	1	B	0.22211	0.066	B	0.11329	0.006	T	0.02301	-1.1180	10	0.87932	D	0	.	13.4699	0.61276	0.0:0.924:0.0:0.076	.	369	Q08170	SRSF4_HUMAN	H	369	ENSP00000362900:R369H	ENSP00000362900:R369H	R	-	2	0	SRSF4	29347888	1.000000	0.71417	0.999000	0.59377	0.357000	0.29423	2.608000	0.46308	1.364000	0.46038	0.655000	0.94253	CGC		0.612	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		5	41	0	0	0	0	5	41				
MFSD2A	84879	broad.mit.edu	37	1	40434298	40434298	+	Silent	SNP	G	G	A	rs531676567		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:40434298G>A	ENST00000372809.5	+	13	1592	c.1449G>A	c.(1447-1449)ctG>ctA	p.L483L	MFSD2A_ENST00000420632.2_Silent_p.L314L|MFSD2A_ENST00000372811.5_Silent_p.L470L|MFSD2A_ENST00000480630.1_3'UTR	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	483					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)	p.L470L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AGTTTACACTGAACATGCTCG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		19592	0.0		0.001	False		,,,				2504	0.0					uc001cev.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)|pancreas(1)	2						c.(1447-1449)CTG>CTA		major facilitator superfamily domain containing							103.0	98.0	100.0					1																	40434298		2203	4300	6503	SO:0001819	synonymous_variant	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40434298G>A	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.1449G>A	1.37:g.40434298G>A						MFSD2A_uc010ojb.1_Silent_p.L431L|MFSD2A_uc001ceu.2_Silent_p.L470L|MFSD2A_uc010ojc.1_Silent_p.L314L|MFSD2A_uc009vvy.2_RNA|MFSD2A_uc001cex.2_Silent_p.L134L	p.L483L	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN			13	1630	+			483			Helical; (Potential).		A8K675|Q6UWU5|Q96F59|Q9BRC8	Silent	SNP	ENST00000372809.5	37	c.1449G>A	CCDS44118.1																																																																																				0.567	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		46	161	0	0	0	0	46	161				
PIGK	10026	broad.mit.edu	37	1	77588033	77588033	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:77588033T>C	ENST00000370812.3	-	10	1021	c.998A>G	c.(997-999)gAc>gGc	p.D333G	PIGK_ENST00000370813.5_Missense_Mutation_p.D257G|PIGK_ENST00000445065.1_Missense_Mutation_p.D239G	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	333					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)	p.D333G(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						ATCCATCTGGTCTTCCTTATA	0.299																																						uc001dhk.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)|pancreas(1)	3						c.(997-999)GAC>GGC		phosphatidylinositol glycan anchor biosynthesis,							116.0	119.0	118.0					1																	77588033		2203	4299	6502	SO:0001583	missense	10026				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding	g.chr1:77588033T>C	AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.998A>G	1.37:g.77588033T>C	ENSP00000359848:p.Asp333Gly					PIGK_uc010orj.1_Missense_Mutation_p.D257G|PIGK_uc009wbx.2_Missense_Mutation_p.D239G	p.D333G	NM_005482	NP_005473	Q92643	GPI8_HUMAN			10	1043	-			333	Missing: Loss of activity.		Lumenal (Potential).		B2R7K3|B4E2M3|O14822|Q5TG77	Missense_Mutation	SNP	ENST00000370812.3	37	c.998A>G	CCDS674.1	.	.	.	.	.	.	.	.	.	.	T	5.545	0.285388	0.10513	.	.	ENSG00000142892	ENST00000370812;ENST00000445065;ENST00000370813	T;T;T	0.45668	0.91;0.89;0.89	4.91	3.76	0.43208	.	0.225560	0.43747	D	0.000529	T	0.14657	0.0354	N	0.24115	0.695	0.42077	D	0.991233	B;B;B	0.29253	0.239;0.049;0.0	B;B;B	0.25987	0.065;0.048;0.001	T	0.07616	-1.0763	10	0.49607	T	0.09	.	9.909	0.41394	0.0:0.083:0.0:0.917	.	257;239;333	B4E2M3;B1AK81;Q92643	.;.;GPI8_HUMAN	G	333;239;257	ENSP00000359848:D333G;ENSP00000388854:D239G;ENSP00000359849:D257G	ENSP00000359848:D333G	D	-	2	0	PIGK	77360621	0.996000	0.38824	0.797000	0.32132	0.071000	0.16799	2.629000	0.46485	1.975000	0.57531	0.477000	0.44152	GAC		0.299	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1	NM_005482		23	86	0	0	0	0	23	86				
GTF2B	2959	broad.mit.edu	37	1	89325684	89325684	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:89325684T>C	ENST00000370500.5	-	5	534	c.416A>G	c.(415-417)aAt>aGt	p.N139S	GTF2B_ENST00000494819.1_5'UTR	NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	139					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)	core promoter binding (GO:0001047)|thyroid hormone receptor binding (GO:0046966)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.N139S(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		GAATAAATTATTTGTTCGATC	0.343																																						uc001dmo.3		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	large_intestine(1)|ovary(1)	2						c.(415-417)AAT>AGT		general transcription factor IIB							136.0	139.0	138.0					1																	89325684		2203	4300	6503	SO:0001583	missense	2959				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding	g.chr1:89325684T>C	M76766	CCDS715.1	1p22-p21	2010-03-23			ENSG00000137947	ENSG00000137947		"""General transcription factors"""	4648	protein-coding gene	gene with protein product		189963				1876184, 8162052	Standard	NM_001514		Approved	TFIIB	uc001dmo.4	Q00403	OTTHUMG00000010611	ENST00000370500.5:c.416A>G	1.37:g.89325684T>C	ENSP00000359531:p.Asn139Ser						p.N139S	NM_001514	NP_001505	Q00403	TF2B_HUMAN		all cancers(265;0.0131)|Epithelial(280;0.0255)	5	535	-		Lung NSC(277;0.123)	139			1		A8K1A7|Q5JS30	Missense_Mutation	SNP	ENST00000370500.5	37	c.416A>G	CCDS715.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.176785	0.57692	.	.	ENSG00000137947	ENST00000370500;ENST00000448623;ENST00000418217	T;T;T	0.39997	1.05;1.05;1.06	5.49	5.49	0.81192	Transcription factor TFIIB, cyclin-related (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.14874	0.0359	N	0.26092	0.79	0.80722	D	1	B	0.25390	0.125	B	0.21360	0.034	T	0.06935	-1.0799	10	0.10377	T	0.69	-14.461	15.8874	0.79261	0.0:0.0:0.0:1.0	.	139	Q00403	TF2B_HUMAN	S	139;138;134	ENSP00000359531:N139S;ENSP00000415741:N138S;ENSP00000402345:N134S	ENSP00000359531:N139S	N	-	2	0	GTF2B	89098272	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.651000	0.83577	2.193000	0.70182	0.482000	0.46254	AAT		0.343	GTF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029279.1	NM_001514		26	184	0	0	0	0	26	184				
SLC6A17	388662	broad.mit.edu	37	1	110709633	110709633	+	Missense_Mutation	SNP	G	G	A	rs142242142		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:110709633G>A	ENST00000331565.4	+	2	567	c.82G>A	c.(82-84)Gag>Aag	p.E28K	RP5-1028L10.1_ENST00000418579.1_RNA|RP5-1028L10.1_ENST00000443008.1_RNA|RP5-1028L10.1_ENST00000430098.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	28					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)	p.E28K(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GCTGGCCCTCGAGGAGCCTGT	0.617																																						uc009wfq.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|pancreas(1)	2						c.(82-84)GAG>AAG		solute carrier family 6, member 17		G	LYS/GLU,	0,4406		0,0,2203	61.0	52.0	55.0		82,378	4.3	0.9	1	dbSNP_134	55	1,8599	1.2+/-3.3	0,1,4299	no	missense,coding-synonymous	SLC6A17,LOC100130800	NM_001010898.2,XM_001719118.1	56,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,	28/728,126/154	110709633	1,13005	2203	4300	6503	SO:0001583	missense	388662				alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	g.chr1:110709633G>A		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.82G>A	1.37:g.110709633G>A	ENSP00000330199:p.Glu28Lys						p.E28K	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)	2	543	+		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	28			Cytoplasmic (Potential).		A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	ENST00000331565.4	37	c.82G>A	CCDS30799.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236255	0.79800	0.0	1.16E-4	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.73789	-0.78	4.31	4.31	0.51392	.	0.054215	0.64402	D	0.000001	T	0.65923	0.2738	M	0.68317	2.08	0.49389	D	0.999786	P	0.39376	0.67	B	0.40199	0.322	T	0.73531	-0.3953	10	0.59425	D	0.04	.	14.2547	0.66043	0.0:0.1495:0.8505:0.0	.	28	Q9H1V8	S6A17_HUMAN	K	28	ENSP00000330199:E28K	ENSP00000330199:E28K	E	+	1	0	SLC6A17	110511156	1.000000	0.71417	0.927000	0.36925	0.994000	0.84299	7.757000	0.85209	2.221000	0.72209	0.563000	0.77884	GAG		0.617	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2	XM_371280		6	22	0	0	0	0	6	22				
SYT6	148281	broad.mit.edu	37	1	114680442	114680442	+	Missense_Mutation	SNP	C	C	T	rs139165674	byFrequency	TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:114680442C>T	ENST00000610222.1	-	3	892	c.746G>A	c.(745-747)cGt>cAt	p.R249H	SYT6_ENST00000609117.1_Missense_Mutation_p.R164H|SYT6_ENST00000369547.1_Missense_Mutation_p.R164H|SYT6_ENST00000393296.1_Missense_Mutation_p.R249H|SYT6_ENST00000607941.1_Missense_Mutation_p.R164H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	249	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.R164H(2)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTCAGGATACGCACAATCAG	0.542													C|||	3	0.000599042	0.0008	0.0014	5008	,	,		23094	0.0		0.001	False		,,,				2504	0.0					uc001eev.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(490-492)CGT>CAT		synaptotagmin VI		C	HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	162.0	140.0	148.0		491	4.7	1.0	1	dbSNP_134	148	6,8594	5.0+/-18.6	0,6,4294	yes	missense	SYT6	NM_205848.2	29	0,10,6493	TT,TC,CC		0.0698,0.0908,0.0769	probably-damaging	164/426	114680442	10,12996	2203	4300	6503	SO:0001583	missense	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114680442C>T		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.746G>A	1.37:g.114680442C>T	ENSP00000476396:p.Arg249His						p.R164H	NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	741	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	249			Cytoplasmic (Potential).|C2 1.		B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37	c.491G>A		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.69	2.611532	0.46631	9.08E-4	6.98E-4	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.61	4.7	0.59300	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);Synaptotagmin (1);	0.222251	0.44285	D	0.000462	T	0.37293	0.0998	N	0.17838	0.53	0.44030	D	0.996757	B	0.32829	0.386	B	0.31869	0.137	T	0.40887	-0.9539	10	0.41790	T	0.15	.	14.7542	0.69552	0.0:0.9308:0.0:0.0692	.	249	Q5T7P8	SYT6_HUMAN	H	164;249;164;249	ENSP00000358560:R164H;ENSP00000376974:R249H;ENSP00000358559:R164H;ENSP00000358558:R249H	ENSP00000358558:R249H	R	-	2	0	SYT6	114481965	0.903000	0.30736	1.000000	0.80357	0.826000	0.46750	1.884000	0.39668	1.397000	0.46682	-0.119000	0.15052	CGT		0.542	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		14	123	0	0	0	0	14	123				
BCL9	607	broad.mit.edu	37	1	147096054	147096054	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:147096054T>C	ENST00000234739.3	+	10	4315	c.3575T>C	c.(3574-3576)cTt>cCt	p.L1192P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1192	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GATGCAGCACTTTGCAAGCCT	0.627			T	"""IGH@, IGL@"""	B-ALL																																	uc001epq.2		NA		Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(3574-3576)CTT>CCT		B-cell CLL/lymphoma 9							35.0	38.0	37.0					1																	147096054		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147096054T>C	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.3575T>C	1.37:g.147096054T>C	ENSP00000234739:p.Leu1192Pro					BCL9_uc010ozr.1_Missense_Mutation_p.L1106P	p.L1192P	NM_004326	NP_004317	O00512	BCL9_HUMAN			10	4315	+	all_hematologic(923;0.115)		1192			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.3575T>C	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.564156	0.45694	.	.	ENSG00000116128	ENST00000234739	T	0.58506	0.33	4.96	3.82	0.43975	.	0.059219	0.64402	D	0.000001	T	0.51822	0.1697	L	0.36672	1.1	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.63597	0.916;0.916	T	0.57768	-0.7754	10	0.66056	D	0.02	-12.7669	10.8478	0.46753	0.0:0.0751:0.0:0.9249	.	1192;1192	Q1JQ81;O00512	.;BCL9_HUMAN	P	1192	ENSP00000234739:L1192P	ENSP00000234739:L1192P	L	+	2	0	BCL9	145562678	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.456000	0.80751	0.832000	0.34804	0.533000	0.62120	CTT		0.627	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		9	112	0	0	0	0	9	112				
ATP8B2	57198	broad.mit.edu	37	1	154303598	154303598	+	Silent	SNP	T	T	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:154303598T>A	ENST00000368489.3	+	5	378	c.378T>A	c.(376-378)gcT>gcA	p.A126A	ATP8B2_ENST00000368487.3_Silent_p.A93A|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Silent_p.A112A	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	112					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.A126A(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCATCACAGCTGTTAAAGATG	0.493																																						uc001fey.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)|skin(1)	2						c.(334-336)GCT>GCA		ATPase, class I, type 8B, member 2 isoform b							164.0	134.0	144.0					1																	154303598		2203	4300	6503	SO:0001819	synonymous_variant	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154303598T>A	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.378T>A	1.37:g.154303598T>A						ATP8B2_uc001few.2_Silent_p.A93A|ATP8B2_uc001fex.2_Silent_p.A126A	p.A112A	NM_001005855	NP_001005855	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		4	525	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		112			Helical; (Potential).		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Silent	SNP	ENST00000368489.3	37	c.336T>A	CCDS1066.1																																																																																				0.493	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		32	93	0	0	0	0	32	93				
DNM3	26052	broad.mit.edu	37	1	171956930	171956930	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:171956930G>T	ENST00000355305.5	+	3	527	c.370G>T	c.(370-372)Gtc>Ttc	p.V124F	DNM3_ENST00000358155.4_Missense_Mutation_p.V124F|DNM3_ENST00000367733.2_Missense_Mutation_p.V124F|DNM3_ENST00000367731.1_Missense_Mutation_p.V124F|DNM3_ENST00000520906.1_Missense_Mutation_p.V124F			Q9UQ16	DYN3_HUMAN	dynamin 3	124	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TAATTTACGAGTCTATTCCCC	0.333																																						uc001gie.2		NA																	0				breast(1)	1						c.(370-372)GTC>TTC		dynamin 3 isoform a							116.0	122.0	120.0					1																	171956930		1844	4086	5930	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:171956930G>T	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.370G>T	1.37:g.171956930G>T	ENSP00000347457:p.Val124Phe					DNM3_uc001gid.3_Missense_Mutation_p.V124F|DNM3_uc009wwb.2_Missense_Mutation_p.V124F|DNM3_uc001gif.2_Missense_Mutation_p.V124F	p.V124F	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN			3	546	+			124					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.370G>T		.	.	.	.	.	.	.	.	.	.	G	19.03	3.747982	0.69533	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	D;D;D;D;D;D	0.97089	-3.78;-3.78;-3.78;-3.78;-3.78;-4.24	5.16	5.16	0.70880	.	0.135154	0.49916	D	0.000128	D	0.97907	0.9312	M	0.87617	2.895	0.58432	D	0.999993	P;P;D;P	0.63046	0.735;0.952;0.992;0.483	P;P;D;P	0.68943	0.692;0.664;0.961;0.642	D	0.98543	1.0633	10	0.87932	D	0	.	8.0581	0.30617	0.1715:0.0:0.8285:0.0	.	124;124;124;124	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	F	124;124;124;124;124;124;14	ENSP00000350876:V124F;ENSP00000356707:V124F;ENSP00000347457:V124F;ENSP00000356705:V124F;ENSP00000429701:V124F;ENSP00000429416:V14F	ENSP00000347457:V124F	V	+	1	0	DNM3	170223553	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.613000	0.46351	2.397000	0.81536	0.655000	0.94253	GTC		0.333	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		14	188	1	0	6.32e-08	6.95e-08	14	188				
USH2A	7399	broad.mit.edu	37	1	216496972	216496972	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:216496972G>A	ENST00000307340.3	-	8	1780	c.1394C>T	c.(1393-1395)cCt>cTt	p.P465L	USH2A_ENST00000366942.3_Missense_Mutation_p.P465L|USH2A_ENST00000366943.2_Missense_Mutation_p.P465L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	465	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.P465L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTGTATCCAGGACGATAATT	0.378										HNSCC(13;0.011)																												uc001hku.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(1393-1395)CCT>CTT		usherin isoform B							139.0	142.0	141.0					1																	216496972		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216496972G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1394C>T	1.37:g.216496972G>A	ENSP00000305941:p.Pro465Leu	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.P465L	p.P465L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	8	1781	-			465			Laminin N-terminal.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1394C>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	31	5.087158	0.94100	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.25579	2.12;2.11;1.79	5.5	5.5	0.81552	Laminin, N-terminal (3);	0.000000	0.44902	D	0.000419	T	0.62478	0.2431	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.71431	-0.4595	10	0.87932	D	0	.	19.4046	0.94643	0.0:0.0:1.0:0.0	.	465;465	O75445-2;O75445	.;USH2A_HUMAN	L	465	ENSP00000305941:P465L;ENSP00000355910:P465L;ENSP00000355909:P465L	ENSP00000305941:P465L	P	-	2	0	USH2A	214563595	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.237000	0.78164	2.566000	0.86566	0.655000	0.94253	CCT		0.378	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		16	172	0	0	0	0	16	172				
TRIM58	25893	broad.mit.edu	37	1	248028043	248028043	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:248028043G>C	ENST00000366481.3	+	3	601	c.553G>C	c.(553-555)Gag>Cag	p.E185Q		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	185						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTTCAGATTGGAGTTTGAGAA	0.602																																						uc001ido.2		NA																	0				skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(553-555)GAG>CAG		tripartite motif-containing 58							75.0	58.0	64.0					1																	248028043		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248028043G>C	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.553G>C	1.37:g.248028043G>C	ENSP00000355437:p.Glu185Gln						p.E185Q	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	601	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	185					Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.553G>C	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186425	0.57909	.	.	ENSG00000162722	ENST00000366481	T	0.03982	3.74	4.25	4.25	0.50352	.	0.000000	0.52532	D	0.000079	T	0.12305	0.0299	M	0.78049	2.395	0.34986	D	0.754591	P	0.41131	0.739	P	0.45232	0.474	T	0.10042	-1.0647	10	0.54805	T	0.06	.	14.5695	0.68202	0.0:0.0:1.0:0.0	.	185	Q8NG06	TRI58_HUMAN	Q	185	ENSP00000355437:E185Q	ENSP00000355437:E185Q	E	+	1	0	TRIM58	246094666	1.000000	0.71417	0.987000	0.45799	0.219000	0.24729	6.621000	0.74228	2.356000	0.79943	0.655000	0.94253	GAG		0.602	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		13	66	0	0	0	0	13	66				
ANK3	288	broad.mit.edu	37	10	61840373	61840373	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr10:61840373C>G	ENST00000280772.2	-	36	4545	c.4354G>C	c.(4354-4356)Gag>Cag	p.E1452Q	Y_RNA_ENST00000365320.1_RNA|ANK3_ENST00000355288.2_Missense_Mutation_p.E577Q|ANK3_ENST00000373827.2_Missense_Mutation_p.E1437Q|ANK3_ENST00000503366.1_Missense_Mutation_p.E1444Q	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1452					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTGTTTTCTCAATCTGAAAA	0.383																																						uc001jky.2		NA																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(4354-4356)GAG>CAG		ankyrin 3 isoform 1							72.0	67.0	69.0					10																	61840373		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61840373C>G	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.4354G>C	10.37:g.61840373C>G	ENSP00000280772:p.Glu1452Gln					ANK3_uc001jkw.2_Missense_Mutation_p.E577Q|ANK3_uc009xpa.2_Missense_Mutation_p.E577Q|ANK3_uc001jkx.2_Missense_Mutation_p.E621Q|ANK3_uc010qih.1_Missense_Mutation_p.E1444Q|ANK3_uc001jkz.3_Missense_Mutation_p.E1437Q|ANK3_uc001jla.1_Missense_Mutation_p.E509Q|ANK3_uc001jkv.2_5'UTR|ANK3_uc009xpb.1_5'Flank|ANK3_uc009xpc.1_5'Flank	p.E1452Q	NM_020987	NP_066267	Q12955	ANK3_HUMAN			36	4546	-			1452					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.4354G>C	CCDS7258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.31|14.31	2.495880|2.495880	0.44352|0.44352	.|.	.|.	ENSG00000151150|ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304|ENST00000511043	T;T;T;T;T|.	0.76709|.	1.84;1.5;-1.04;1.5;1.5|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.39544|.	N|.	0.001322|.	T|T	0.74884|0.74884	0.3775|0.3775	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	P;P;P;P;P;D|.	0.53151|.	0.57;0.944;0.627;0.936;0.544;0.958|.	B;P;B;P;B;P|.	0.61201|.	0.317;0.655;0.139;0.885;0.257;0.549|.	T|T	0.73297|0.73297	-0.4027|-0.4027	10|5	0.87932|.	D|.	0|.	.|.	19.0941|19.0941	0.93242|0.93242	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1444;577;1437;1452;678;577|.	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2|.	.;.;.;ANK3_HUMAN;.;.|.	Q|F	1452;1437;35;577;577;1444;1423;678;1078;1078|2	ENSP00000280772:E1452Q;ENSP00000362933:E1437Q;ENSP00000362926:E35Q;ENSP00000347436:E577Q;ENSP00000425236:E1444Q|.	ENSP00000280772:E1452Q|.	E|L	-|-	1|3	0|2	ANK3|ANK3	61510379|61510379	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.980000|0.980000	0.70556|0.70556	7.487000|7.487000	0.81328|0.81328	2.508000|2.508000	0.84585|0.84585	0.563000|0.563000	0.77884|0.77884	GAG|TTG		0.383	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		7	30	0	0	0	0	7	30				
LRRTM3	347731	broad.mit.edu	37	10	68688015	68688015	+	Silent	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr10:68688015G>C	ENST00000361320.4	+	2	1919	c.1341G>C	c.(1339-1341)gcG>gcC	p.A447A	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	447					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						GGTACCCTGCGAGCATGAAGC	0.522																																						uc001jmz.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1339-1341)GCG>GCC		leucine rich repeat transmembrane neuronal 3							88.0	87.0	87.0					10																	68688015		2203	4300	6503	SO:0001819	synonymous_variant	347731					integral to membrane		g.chr10:68688015G>C	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.1341G>C	10.37:g.68688015G>C						CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Silent_p.A447A	p.A447A	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	1891	+			447			Cytoplasmic (Potential).		A8K2A3|Q2NKX7|Q6N0A3	Silent	SNP	ENST00000361320.4	37	c.1341G>C	CCDS7270.1																																																																																				0.522	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		17	113	0	0	0	0	17	113				
PALD1	27143	broad.mit.edu	37	10	72298066	72298066	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr10:72298066C>T	ENST00000263563.6	+	12	1622	c.1354C>T	c.(1354-1356)Cgc>Tgc	p.R452C		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	452						cytosol (GO:0005829)											CAGTTTCAGCCGCTGGCTGTG	0.667																																						uc001jrd.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1354-1356)CGC>TGC		KIAA1274							55.0	46.0	49.0					10																	72298066		2203	4300	6503	SO:0001583	missense	27143							g.chr10:72298066C>T	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1354C>T	10.37:g.72298066C>T	ENSP00000263563:p.Arg452Cys					KIAA1274_uc001jre.3_5'Flank	p.R452C	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN			12	1635	+			452					B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	c.1354C>T	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	c	19.75	3.885064	0.72410	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.31769	1.48	4.31	4.31	0.51392	.	0.187030	0.45361	D	0.000368	T	0.48714	0.1515	M	0.72479	2.2	0.48341	D	0.999639	D	0.89917	1.0	D	0.63113	0.911	T	0.51309	-0.8722	10	0.72032	D	0.01	-27.1328	10.072	0.42339	0.3444:0.6556:0.0:0.0	.	452	Q9ULE6	PALD_HUMAN	C	452	ENSP00000263563:R452C	ENSP00000263563:R452C	R	+	1	0	KIAA1274	71968072	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.431000	0.44775	2.221000	0.72209	0.561000	0.74099	CGC		0.667	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		5	63	0	0	0	0	5	63				
HPS1	3257	broad.mit.edu	37	10	100202886	100202886	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr10:100202886C>T	ENST00000325103.6	-	3	345	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	HPS1_ENST00000361490.4_Missense_Mutation_p.E38K|HPS1_ENST00000338546.5_Missense_Mutation_p.E38K|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	38	Poly-Glu.				blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)	p.E38K(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CTCACCTCTTCTTCCTCATTC	0.557									Hermansky-Pudlak syndrome																													uc010qpf.1		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	skin(1)	1						c.(112-114)GAA>AAA		Hermansky-Pudlak syndrome 1 protein isoform a							174.0	155.0	162.0					10																	100202886		2203	4300	6503	SO:0001583	missense	3257	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100202886C>T	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.112G>A	10.37:g.100202886C>T	ENSP00000326649:p.Glu38Lys					HPS1_uc001kpi.1_Missense_Mutation_p.E38K|HPS1_uc001kpk.1_Missense_Mutation_p.E38K|HPS1_uc009xwb.2_RNA|HPS1_uc010qph.1_Missense_Mutation_p.E38K|HPS1_uc001kpl.2_Missense_Mutation_p.E38K|HPS1_uc001kpm.1_RNA	p.E38K	NM_000195	NP_000186	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	3	358	-		Colorectal(252;0.234)	38			Poly-Glu.		A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	ENST00000325103.6	37	c.112G>A	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876473	0.51801	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891;ENST00000338546	T;T;T	0.28666	1.6;1.6;1.6	4.49	3.58	0.41010	.	0.242902	0.40385	N	0.001119	T	0.42765	0.1217	M	0.72118	2.19	0.33023	D	0.529119	P;D;P;P	0.61697	0.818;0.99;0.716;0.529	B;P;B;B	0.53035	0.311;0.716;0.228;0.228	T	0.57412	-0.7816	10	0.30854	T	0.27	.	12.2694	0.54697	0.0:0.8277:0.1723:0.0	.	38;38;38;38	Q92902;Q92902-3;Q92902-2;D3DR62	HPS1_HUMAN;.;.;.	K	38	ENSP00000326649:E38K;ENSP00000355310:E38K;ENSP00000343638:E38K	ENSP00000326649:E38K	E	-	1	0	HPS1	100192876	0.005000	0.15991	0.731000	0.30826	0.977000	0.68977	0.890000	0.28295	1.081000	0.41110	0.655000	0.94253	GAA		0.557	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		53	193	0	0	0	0	53	193				
EDRF1	26098	broad.mit.edu	37	10	127412503	127412503	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr10:127412503C>T	ENST00000356792.4	+	4	740	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	C10orf137_ENST00000337623.3_Nonsense_Mutation_p.Q170*	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q170*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GAGATCGTCTCAGGTAATGCT	0.398																																						uc001liq.1		NA																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)	ovary(5)|large_intestine(3)|lung(2)	10						c.(508-510)CAG>TAG		erythroid differentiation-related factor 1							94.0	95.0	94.0					10																	127412503		2203	4300	6503	SO:0001587	stop_gained	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127412503C>T																												ENST00000356792.4:c.508C>T	10.37:g.127412503C>T	ENSP00000349244:p.Gln170*					C10orf137_uc001lin.2_Nonsense_Mutation_p.Q170*|C10orf137_uc001lio.1_Nonsense_Mutation_p.Q170*|C10orf137_uc001lip.1_5'UTR	p.Q170*	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN			4	801	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	170					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Nonsense_Mutation	SNP	ENST00000356792.4	37	c.508C>T	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	C	39	7.866373	0.98534	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	18.3161	0.90221	0.0:1.0:0.0:0.0	.	.	.	.	X	170	.	ENSP00000336727:Q170X	Q	+	1	0	C10orf137	127402493	1.000000	0.71417	0.981000	0.43875	0.961000	0.63080	7.487000	0.81328	2.755000	0.94549	0.650000	0.86243	CAG		0.398	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			21	129	0	0	0	0	21	129				
OR51F1	256892	broad.mit.edu	37	11	4790981	4790981	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr11:4790981C>G	ENST00000380383.1	-	1	187	c.188G>C	c.(187-189)aGt>aCt	p.S63T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.S56T			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCATGGAGACTCTGCTGGGT	0.453																																						uc010qyl.1		NA																	0				ovary(1)|skin(1)	2						c.(166-168)AGT>ACT		olfactory receptor, family 51, subfamily F,							73.0	69.0	70.0					11																	4790981		2201	4298	6499	SO:0001583	missense	256892					integral to membrane	olfactory receptor activity	g.chr11:4790981C>G	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.188G>C	11.37:g.4790981C>G	ENSP00000369744:p.Ser63Thr						p.S56T	NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	1	167	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	56						Missense_Mutation	SNP	ENST00000380383.1	37	c.167G>C		.	.	.	.	.	.	.	.	.	.	C	14.66	2.601108	0.46423	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.00438	7.42;7.42	4.81	2.96	0.34315	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000011	T	0.00845	0.0028	M	0.74258	2.255	0.23023	N	0.998411	D	0.69078	0.997	D	0.65773	0.938	T	0.45498	-0.9257	10	0.51188	T	0.08	.	7.5754	0.27933	0.0:0.7353:0.0:0.2647	.	63	A6NGY5	O51F1_HUMAN	T	56;63	ENSP00000345163:S56T;ENSP00000369744:S63T	ENSP00000345163:S56T	S	-	2	0	OR51F1	4747557	0.000000	0.05858	0.983000	0.44433	0.895000	0.52256	-0.071000	0.11505	0.653000	0.30826	-0.237000	0.12165	AGT		0.453	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		8	41	0	0	0	0	8	41				
OR52N4	390072	broad.mit.edu	37	11	5776889	5776889	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr11:5776889A>T	ENST00000317254.3	+	1	967	c.919A>T	c.(919-921)Ata>Tta	p.I307L	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I307L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		AGACTGTGTCATAAGGATCCT	0.413																																						uc001mbu.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|skin(1)	2						c.(919-921)ATA>TTA		olfactory receptor, family 52, subfamily N,							78.0	72.0	74.0					11																	5776889		1890	4136	6026	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776889A>T	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.919A>T	11.37:g.5776889A>T	ENSP00000323224:p.Ile307Leu					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.I307L	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	967	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	307			Cytoplasmic (Potential).		B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.919A>T	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	A	0.030	-1.342818	0.01277	.	.	ENSG00000181074	ENST00000317254	T	0.35236	1.32	5.13	-7.62	0.01294	.	1.134080	0.06797	N	0.788054	T	0.10594	0.0259	N	0.05078	-0.115	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.28235	-1.0050	10	0.02654	T	1	.	3.2212	0.06716	0.3801:0.2732:0.2642:0.0825	.	307	Q8NGI2	O52N4_HUMAN	L	307	ENSP00000323224:I307L	ENSP00000323224:I307L	I	+	1	0	OR52N4	5733465	0.000000	0.05858	0.001000	0.08648	0.065000	0.16274	-4.342000	0.00249	-1.179000	0.02737	0.524000	0.50904	ATA		0.413	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		39	93	0	0	0	0	39	93				
BBOX1	8424	broad.mit.edu	37	11	27148982	27148982	+	Missense_Mutation	SNP	G	G	T	rs375535107		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr11:27148982G>T	ENST00000529202.1	+	8	1485	c.1146G>T	c.(1144-1146)agG>agT	p.R382S	RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000525090.1_Missense_Mutation_p.R382S|BBOX1_ENST00000263182.3_Missense_Mutation_p.R382S|BBOX1_ENST00000528583.1_Missense_Mutation_p.R382S|RP11-1L12.3_ENST00000530430.1_RNA			O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	382					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	gamma-butyrobetaine dioxygenase activity (GO:0008336)|iron ion binding (GO:0005506)|zinc ion binding (GO:0008270)	p.R382S(1)		breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TAAGGCAGAGGGTGGAGAATG	0.418																																						uc001mre.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(1144-1146)AGG>AGT		gamma-butyrobetaine dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)						111.0	99.0	103.0					11																	27148982		2202	4299	6501	SO:0001583	missense	8424				carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr11:27148982G>T	AF082868	CCDS7862.1	11p	2008-02-01			ENSG00000129151	ENSG00000129151	1.14.11.1		964	protein-coding gene	gene with protein product		603312		BBOX		9753662	Standard	XM_005253159		Approved	gamma-BBH, G-BBH, BBH	uc001mre.1	O75936	OTTHUMG00000166121	ENST00000529202.1:c.1146G>T	11.37:g.27148982G>T	ENSP00000435781:p.Arg382Ser					BBOX1_uc009yih.1_Missense_Mutation_p.R382S|BBOX1_uc001mrg.1_Missense_Mutation_p.R382S	p.R382S	NM_003986	NP_003977	O75936	BODG_HUMAN			9	1514	+			382					B2R8L7|D3DQZ1|Q6IBJ2	Missense_Mutation	SNP	ENST00000529202.1	37	c.1146G>T	CCDS7862.1	.	.	.	.	.	.	.	.	.	.	G	7.587	0.669915	0.14776	.	.	ENSG00000129151	ENST00000529202;ENST00000263182;ENST00000528583;ENST00000525090	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	5.97	-10.9	0.00192	.	0.926347	0.09530	N	0.789680	T	0.56906	0.2017	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41502	-0.9505	10	0.13108	T	0.6	.	5.7324	0.18047	0.1023:0.3455:0.4097:0.1425	.	382	O75936	BODG_HUMAN	S	382	ENSP00000435781:R382S;ENSP00000263182:R382S;ENSP00000434918:R382S;ENSP00000433772:R382S	ENSP00000263182:R382S	R	+	3	2	BBOX1	27105558	0.000000	0.05858	0.000000	0.03702	0.367000	0.29736	-1.653000	0.01986	-2.526000	0.00494	-0.262000	0.10625	AGG		0.418	BBOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387946.1	NM_003986		5	113	1	0	0.000602214	0.000639301	5	113				
FBXO3	26273	broad.mit.edu	37	11	33772131	33772131	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr11:33772131G>C	ENST00000265651.3	-	8	904	c.886C>G	c.(886-888)Ctt>Gtt	p.L296V	FBXO3_ENST00000531080.1_5'UTR|FBXO3_ENST00000532057.1_5'UTR|FBXO3_ENST00000530401.1_Missense_Mutation_p.L291V|FBXO3_ENST00000448981.2_Missense_Mutation_p.L296V|FBXO3_ENST00000526785.1_Missense_Mutation_p.L183V|FBXO3_ENST00000534136.1_Missense_Mutation_p.L296V	NM_012175.3	NP_036307.2	Q9UK99	FBX3_HUMAN	F-box protein 3	296	ApaG. {ECO:0000255|PROSITE- ProRule:PRU00412}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		ACAGAGCTAAGTTCTGGCAGA	0.388																																						uc001muz.2		NA																	0				pancreas(1)	1						c.(886-888)CTT>GTT		F-box only protein 3 isoform 1							144.0	139.0	141.0					11																	33772131		2202	4298	6500	SO:0001583	missense	26273				proteolysis	nucleus	ubiquitin-protein ligase activity	g.chr11:33772131G>C	AK001943	CCDS7887.1, CCDS44566.1	11p13	2006-07-07	2004-06-15		ENSG00000110429	ENSG00000110429		"""F-boxes /  ""other"""""	13582	protein-coding gene	gene with protein product		609089	"""F-box only protein 3"""			10531037	Standard	NM_033406		Approved	FBX3, FBA	uc001muz.3	Q9UK99	OTTHUMG00000166244	ENST00000265651.3:c.886C>G	11.37:g.33772131G>C	ENSP00000265651:p.Leu296Val					FBXO3_uc010rej.1_5'UTR|FBXO3_uc001muy.2_Missense_Mutation_p.L183V|FBXO3_uc009ykb.2_RNA|FBXO3_uc001mva.1_Missense_Mutation_p.L296V|FBXO3_uc001mvb.1_Missense_Mutation_p.L291V|FBXO3_uc010rek.1_RNA	p.L296V	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)	8	914	-		Lung NSC(402;0.0804)	296			ApaG.		B3KY16|D3DR05|Q86X90|Q9H0V2|Q9NUX2	Missense_Mutation	SNP	ENST00000265651.3	37	c.886C>G	CCDS7887.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426678	0.83667	.	.	ENSG00000110429	ENST00000526785;ENST00000265651;ENST00000530401;ENST00000534136;ENST00000448981	T;T;T;T;T	0.48522	0.81;0.83;0.85;0.85;0.86	5.58	4.66	0.58398	ApaG domain (4);	0.000000	0.85682	D	0.000000	T	0.64204	0.2577	L	0.57536	1.79	0.58432	D	0.999999	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.79784	0.957;0.957;0.993	T	0.65768	-0.6088	10	0.62326	D	0.03	-17.2247	14.8446	0.70251	0.0703:0.0:0.9297:0.0	.	291;296;296	Q9UK99-3;Q9UK99-2;Q9UK99	.;.;FBX3_HUMAN	V	183;296;291;296;296	ENSP00000435680:L183V;ENSP00000265651:L296V;ENSP00000433781:L291V;ENSP00000431745:L296V;ENSP00000408836:L296V	ENSP00000265651:L296V	L	-	1	0	FBXO3	33728707	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.230000	0.95299	2.650000	0.89964	0.591000	0.81541	CTT		0.388	FBXO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388665.1	NM_012175		6	71	0	0	0	0	6	71				
CATSPER1	117144	broad.mit.edu	37	11	65792843	65792843	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr11:65792843G>A	ENST00000312106.5	-	1	1145	c.1008C>T	c.(1006-1008)caC>caT	p.H336H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	336					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.H336H(2)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CGGGGGCATCGTGAATCAGGC	0.592																																						uc001ogt.2		NA																	2	Substitution - coding silent(2)		upper_aerodigestive_tract(1)|endometrium(1)	ovary(2)	2						c.(1006-1008)CAC>CAT		sperm-associated cation channel 1							130.0	107.0	114.0					11																	65792843		2201	4296	6497	SO:0001819	synonymous_variant	117144				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	g.chr11:65792843G>A	AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1008C>T	11.37:g.65792843G>A							p.H336H	NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN			1	1146	-			336			Cytoplasmic (Potential).		Q96P76	Silent	SNP	ENST00000312106.5	37	c.1008C>T	CCDS8127.1																																																																																				0.592	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054		17	106	0	0	0	0	17	106				
NADSYN1	55191	broad.mit.edu	37	11	71185569	71185569	+	Silent	SNP	C	C	T	rs370965046		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr11:71185569C>T	ENST00000319023.2	+	9	983	c.795C>T	c.(793-795)gaC>gaT	p.D265D	NADSYN1_ENST00000539574.1_5'Flank	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	265	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CTCTGGATGACGTGGTAATGA	0.597																																					Ovarian(79;763 1781 6490 50276)	uc001oqn.2		NA																	0				ovary(2)	2						c.(793-795)GAC>GAT		NAD synthetase 1	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	C		1,4399	2.1+/-5.4	0,1,2199	139.0	128.0	132.0		795	-3.2	0.4	11		132	0,8588		0,0,4294	no	coding-synonymous	NADSYN1	NM_018161.4		0,1,6493	TT,TC,CC		0.0,0.0227,0.0077		265/707	71185569	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	55191				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding	g.chr11:71185569C>T	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.795C>T	11.37:g.71185569C>T						NADSYN1_uc001oqm.2_RNA|NADSYN1_uc001oqo.2_Translation_Start_Site	p.D265D	NM_018161	NP_060631	Q6IA69	NADE_HUMAN			9	921	+			265			CN hydrolase.		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Silent	SNP	ENST00000319023.2	37	c.795C>T	CCDS8201.1																																																																																				0.597	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394356.1	NM_018161		21	318	0	0	0	0	21	318				
UCP3	7352	broad.mit.edu	37	11	73717337	73717337	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr11:73717337C>G	ENST00000314032.4	-	3	766	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	UCP3_ENST00000426995.2_Missense_Mutation_p.E72Q|UCP3_ENST00000348534.4_Missense_Mutation_p.E72Q	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	72					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to hormone stimulus (GO:0032870)|fatty acid metabolic process (GO:0006631)|lipid metabolic process (GO:0006629)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|response to activity (GO:0014823)|response to cold (GO:0009409)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)|transporter activity (GO:0005215)	p.E72Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					CAGGGACCCTCAGTCCGCACC	0.652																																						uc001our.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	pancreas(1)	1						c.(214-216)GAG>CAG		uncoupling protein 3 isoform UCP3L							28.0	29.0	29.0					11																	73717337		2200	4292	6492	SO:0001583	missense	7352				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	g.chr11:73717337C>G	AF001787	CCDS8229.1, CCDS44677.1	11q13.4	2013-05-22				ENSG00000175564		"""Solute carriers"""	12519	protein-coding gene	gene with protein product		602044				9480760, 9196039	Standard	NM_003356		Approved	SLC25A9	uc001our.3	P55916		ENST00000314032.4:c.214G>C	11.37:g.73717337C>G	ENSP00000323740:p.Glu72Gln					UCP3_uc001ous.2_Missense_Mutation_p.E72Q	p.E72Q	NM_003356	NP_003347	P55916	UCP3_HUMAN			3	569	-	Breast(11;2.08e-05)		72			Solcar 1.		O60475|Q96HL3	Missense_Mutation	SNP	ENST00000314032.4	37	c.214G>C	CCDS8229.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228456	0.95173	.	.	ENSG00000175564	ENST00000314032;ENST00000348534;ENST00000426995;ENST00000544614	D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68	5.31	5.31	0.75309	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.92476	0.7611	M	0.90369	3.11	0.54753	D	0.999989	D	0.53619	0.961	D	0.63793	0.918	D	0.93807	0.7106	10	0.87932	D	0	-11.4608	18.5737	0.91147	0.0:1.0:0.0:0.0	.	72	P55916	UCP3_HUMAN	Q	72	ENSP00000323740:E72Q;ENSP00000343615:E72Q;ENSP00000392143:E72Q;ENSP00000445279:E72Q	ENSP00000323740:E72Q	E	-	1	0	UCP3	73394985	1.000000	0.71417	0.996000	0.52242	0.786000	0.44442	7.769000	0.85360	2.498000	0.84270	0.561000	0.74099	GAG		0.652	UCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398200.1	NM_003356		6	20	0	0	0	0	6	20				
CD163L1	283316	broad.mit.edu	37	12	7527092	7527092	+	Missense_Mutation	SNP	C	C	T	rs149805278		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:7527092C>T	ENST00000313599.3	-	13	3412	c.3355G>A	c.(3355-3357)Ggc>Agc	p.G1119S	CD163L1_ENST00000544331.1_5'Flank|CD163L1_ENST00000416109.2_Missense_Mutation_p.G1129S|CD163L1_ENST00000396630.1_Missense_Mutation_p.G1119S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1119	SRCR 10. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCCCCCAGCCGCGGGAAGGG	0.617																																						uc001qsy.2		NA																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(3355-3357)GGC>AGC		scavenger receptor cysteine-rich type 1		C	SER/GLY	1,4405	2.1+/-5.4	0,1,2202	75.0	68.0	70.0		3355	2.5	0.8	12	dbSNP_134	70	0,8600		0,0,4300	no	missense	CD163L1	NM_174941.4	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1119/1454	7527092	1,13005	2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7527092C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3355G>A	12.37:g.7527092C>T	ENSP00000315945:p.Gly1119Ser					CD163L1_uc010sge.1_Missense_Mutation_p.G1129S	p.G1119S	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			13	3381	-			1119			SRCR 10.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.3355G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987508	0.35036	2.27E-4	0.0	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.71817	-0.6;-0.6;-0.6	2.52	2.52	0.30459	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.471231	0.17005	U	0.190722	T	0.81536	0.4843	M	0.84683	2.71	0.22982	N	0.998478	D;D	0.76494	0.998;0.999	D;D	0.68621	0.959;0.944	T	0.68588	-0.5369	10	0.32370	T	0.25	.	8.6149	0.33826	0.0:1.0:0.0:0.0	.	1129;1119	E7EVK4;Q9NR16	.;C163B_HUMAN	S	1119;1129;1119	ENSP00000315945:G1119S;ENSP00000393474:G1129S;ENSP00000379871:G1119S	ENSP00000315945:G1119S	G	-	1	0	CD163L1	7418359	0.000000	0.05858	0.830000	0.32933	0.333000	0.28666	-0.049000	0.11924	1.694000	0.51137	0.462000	0.41574	GGC		0.617	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		20	97	0	0	0	0	20	97				
CASC1	55259	broad.mit.edu	37	12	25308247	25308247	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:25308247G>A	ENST00000320267.9	-	4	361	c.280C>T	c.(280-282)Cag>Tag	p.Q94*	CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395987.3_Nonsense_Mutation_p.Q100*|CASC1_ENST00000545133.1_Nonsense_Mutation_p.Q35*|CASC1_ENST00000537577.1_5'UTR|CASC1_ENST00000354189.5_Nonsense_Mutation_p.Q158*|CASC1_ENST00000395990.2_Nonsense_Mutation_p.Q54*	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	94										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			AGTCCTACCTGAGAAAGCAAT	0.348																																						uc001rgl.2		NA																	0				ovary(2)	2						c.(280-282)CAG>TAG		cancer susceptibility candidate 1 isoform b							97.0	96.0	96.0					12																	25308247		2202	4295	6497	SO:0001587	stop_gained	55259							g.chr12:25308247G>A	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.280C>T	12.37:g.25308247G>A	ENSP00000313141:p.Gln94*					CASC1_uc001rgk.2_Nonsense_Mutation_p.Q100*|CASC1_uc001rgm.3_Nonsense_Mutation_p.Q158*|CASC1_uc001rgj.2_Nonsense_Mutation_p.Q54*|CASC1_uc010sje.1_Nonsense_Mutation_p.Q35*|CASC1_uc010sjf.1_5'UTR|CASC1_uc010sjg.1_Nonsense_Mutation_p.Q94*|CASC1_uc010sjh.1_RNA	p.Q94*	NM_001082973	NP_001076442	Q6TDU7	CASC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)		4	362	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		94					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Nonsense_Mutation	SNP	ENST00000320267.9	37	c.280C>T	CCDS41762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.879913|4.879913	0.91740|0.91740	.|.	.|.	ENSG00000118307|ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000395992;ENST00000545133;ENST00000389246;ENST00000554347|ENST00000556006	.|.	.|.	.|.	5.23|5.23	4.22|4.22	0.49857|0.49857	.|.	0.532864|.	0.18551|.	N|.	0.137914|.	.|T	.|0.60470	.|0.2271	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.56980	.|-0.7889	.|4	0.06494|.	T|.	0.89|.	-5.4053|-5.4053	9.7735|9.7735	0.40605|0.40605	0.0:0.0:0.745:0.255|0.0:0.0:0.745:0.255	.|.	.|.	.|.	.|.	X|L	158;100;94;54;100;35;54;54|69	.|.	ENSP00000313141:Q94X|.	Q|S	-|-	1|2	0|0	CASC1|CASC1	25199514|25199514	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.230000|0.230000	0.25150|0.25150	2.377000|2.377000	0.44300|0.44300	2.609000|2.609000	0.88269|0.88269	0.643000|0.643000	0.83706|0.83706	CAG|TCA		0.348	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		16	74	0	0	0	0	16	74				
KRT72	140807	broad.mit.edu	37	12	52994829	52994829	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:52994829G>A	ENST00000537672.2	-	1	418	c.408C>T	c.(406-408)ttC>ttT	p.F136F	KRT72_ENST00000354310.4_Silent_p.F136F|KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000293745.2_Silent_p.F136F|RP11-641A6.2_ENST00000551089.1_RNA	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	136	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.F136F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TGAAGGAGGCGAACTTGTTGT	0.632																																						uc001sar.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(5)|pancreas(1)	6						c.(406-408)TTC>TTT		keratin 72 isoform 1							160.0	135.0	144.0					12																	52994829		2203	4300	6503	SO:0001819	synonymous_variant	140807					keratin filament	structural molecule activity	g.chr12:52994829G>A	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.408C>T	12.37:g.52994829G>A						KRT72_uc001saq.2_Silent_p.F136F|KRT72_uc010sns.1_Silent_p.F136F|KRT72_uc010snt.1_5'UTR	p.F136F	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	1	494	-			136			Coil 1A.|Rod.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	ENST00000537672.2	37	c.408C>T	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798536	0.70567	.	.	ENSG00000170486	ENST00000549979	.	.	.	4.48	-3.12	0.05282	.	.	.	.	.	T	0.65533	0.2700	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65080	-0.6255	4	.	.	.	.	15.1999	0.73126	0.8683:0.0:0.1317:0.0	.	.	.	.	L	122	.	.	S	-	2	0	KRT72	51281096	0.627000	0.27129	0.980000	0.43619	0.996000	0.88848	-0.011000	0.12721	-0.546000	0.06216	0.555000	0.69702	TCG		0.632	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		24	101	0	0	0	0	24	101				
ITGA5	3678	broad.mit.edu	37	12	54795429	54795429	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:54795429T>A	ENST00000293379.4	-	23	2588	c.2327A>T	c.(2326-2328)cAa>cTa	p.Q776L	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	776					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.Q776L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CACGTCGCTTTGCGAGTTGTT	0.602																																						uc001sga.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(2326-2328)CAA>CTA		integrin alpha 5 precursor							164.0	135.0	145.0					12																	54795429		2203	4300	6503	SO:0001583	missense	3678				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	g.chr12:54795429T>A		CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.2327A>T	12.37:g.54795429T>A	ENSP00000293379:p.Gln776Leu						p.Q776L	NM_002205	NP_002196	P08648	ITA5_HUMAN			23	2395	-			776			Extracellular (Potential).		Q96HA5	Missense_Mutation	SNP	ENST00000293379.4	37	c.2327A>T	CCDS8880.1	.	.	.	.	.	.	.	.	.	.	T	13.63	2.293270	0.40594	.	.	ENSG00000161638	ENST00000293379	T	0.46819	0.86	4.92	4.92	0.64577	Integrin alpha-2 (1);	0.187174	0.47093	D	0.000259	T	0.38134	0.1029	L	0.41710	1.295	0.49582	D	0.999804	B	0.20261	0.043	B	0.22386	0.039	T	0.18241	-1.0343	10	0.27082	T	0.32	.	11.2417	0.48972	0.0:0.0:0.0:1.0	.	776	P08648	ITA5_HUMAN	L	776	ENSP00000293379:Q776L	ENSP00000293379:Q776L	Q	-	2	0	ITGA5	53081696	0.994000	0.37717	0.913000	0.36048	0.961000	0.63080	2.636000	0.46545	1.964000	0.57103	0.460000	0.39030	CAA		0.602	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406174.1			52	172	0	0	0	0	52	172				
NACA	4666	broad.mit.edu	37	12	57106906	57106906	+	Silent	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:57106906G>C	ENST00000454682.1	-	7	6320	c.6039C>G	c.(6037-6039)gtC>gtG	p.V2013V	NACA_ENST00000550952.1_Silent_p.V860V|NACA_ENST00000552540.1_Silent_p.V150V|NACA_ENST00000551793.1_5'Flank|NACA_ENST00000546392.1_Silent_p.V150V|NACA_ENST00000356769.3_Silent_p.V150V|NACA_ENST00000548563.1_Silent_p.V71V|NACA_ENST00000393891.4_Silent_p.V150V	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	2013					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V150V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAATGTTTGAGACAGCTTCAC	0.403			T	BCL6	NHL																																	uc001slz.2		NA		Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(448-450)GTC>GTG		nascent polypeptide-associated complex alpha							85.0	79.0	81.0					12																	57106906		2203	4297	6500	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57106906G>C	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.6039C>G	12.37:g.57106906G>C						NACA_uc001sly.2_Silent_p.V150V|NACA_uc009zoy.1_Silent_p.V2013V|NACA_uc001smc.2_Silent_p.V150V|NACA_uc001sma.2_Silent_p.V860V|NACA_uc001smb.2_Silent_p.V150V|NACA_uc010squ.1_RNA	p.V150V	NM_001113201	NP_001106672	Q13765	NACA_HUMAN			6	799	-			150						Silent	SNP	ENST00000454682.1	37	c.450C>G																																																																																					0.403	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		20	118	0	0	0	0	20	118				
ALX1	8092	broad.mit.edu	37	12	85680722	85680722	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:85680722A>C	ENST00000316824.3	+	3	778	c.623A>C	c.(622-624)gAt>gCt	p.D208A		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	208					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GCCACCTATGATATATCAGTT	0.368																																						uc001tae.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(622-624)GAT>GCT		cartilage paired-class homeoprotein 1							123.0	112.0	115.0					12																	85680722		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85680722A>C	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.623A>C	12.37:g.85680722A>C	ENSP00000315417:p.Asp208Ala						p.D208A	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	3	627	+			208					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.623A>C	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587946	0.66105	.	.	ENSG00000180318	ENST00000316824	D	0.92299	-3.01	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.91023	0.7176	M	0.64404	1.975	0.80722	D	1	B	0.18968	0.032	B	0.23150	0.044	D	0.87833	0.2646	10	0.46703	T	0.11	.	16.1037	0.81205	1.0:0.0:0.0:0.0	.	208	Q15699	ALX1_HUMAN	A	208	ENSP00000315417:D208A	ENSP00000315417:D208A	D	+	2	0	ALX1	84204853	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	7.302000	0.78861	2.191000	0.70037	0.528000	0.53228	GAT		0.368	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		37	104	0	0	0	0	37	104				
STAB2	55576	broad.mit.edu	37	12	104067694	104067694	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr12:104067694G>A	ENST00000388887.2	+	23	2585	c.2381G>A	c.(2380-2382)tGc>tAc	p.C794Y		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GAATGCCTGTGCGTTCACGGA	0.587																																						uc001tjw.2		NA																	0				ovary(9)|skin(5)	14						c.(2380-2382)TGC>TAC		stabilin 2 precursor							70.0	62.0	65.0					12																	104067694		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104067694G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2381G>A	12.37:g.104067694G>A	ENSP00000373539:p.Cys794Tyr						p.C794Y	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			23	2567	+			794			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000388887.2	37	c.2381G>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047879	0.75846	.	.	ENSG00000136011	ENST00000388887	D	0.86164	-2.08	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.96494	0.8856	H	0.99042	4.41	0.58432	D	0.999993	D	0.89917	1.0	D	0.85130	0.997	D	0.97461	1.0034	10	0.49607	T	0.09	.	17.9958	0.89184	0.0:0.0:1.0:0.0	.	794	Q8WWQ8	STAB2_HUMAN	Y	794	ENSP00000373539:C794Y	ENSP00000373539:C794Y	C	+	2	0	STAB2	102591824	1.000000	0.71417	0.057000	0.19452	0.043000	0.13939	8.865000	0.92300	2.539000	0.85634	0.561000	0.74099	TGC		0.587	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			7	57	0	0	0	0	7	57				
TFDP1	7027	broad.mit.edu	37	13	114285981	114285981	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr13:114285981T>C	ENST00000375370.5	+	5	442	c.230T>C	c.(229-231)gTg>gCg	p.V77A	TFDP1_ENST00000544902.1_Intron|TFDP1_ENST00000538138.1_Intron|TFDP1_ENST00000465174.1_3'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	77					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.V77A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			AACACCCTGGTGGTAGGAAGC	0.592										TSP Lung(29;0.18)																												uc001vtw.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	lung(4)|ovary(2)|skin(1)	7						c.(229-231)GTG>GCG		transcription factor Dp-1							149.0	124.0	133.0					13																	114285981		2203	4300	6503	SO:0001583	missense	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114285981T>C	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.230T>C	13.37:g.114285981T>C	ENSP00000364519:p.Val77Ala	TSP Lung(29;0.18)				TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Missense_Mutation_p.V77A|TFDP1_uc001vtx.2_5'Flank|TFDP1_uc010agx.2_Missense_Mutation_p.V77A	p.V77A	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		5	442	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	77					B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	ENST00000375370.5	37	c.230T>C	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	T	17.16	3.319654	0.60524	.	.	ENSG00000198176	ENST00000375370;ENST00000408980;ENST00000453989	T;T;T	0.32023	1.89;1.48;1.47	4.34	4.34	0.51931	.	0.212960	0.39475	N	0.001355	T	0.24005	0.0581	L	0.38175	1.15	0.80722	D	1	P;B;B	0.38195	0.622;0.163;0.199	B;B;B	0.34452	0.183;0.037;0.083	T	0.04752	-1.0929	10	0.38643	T	0.18	.	13.8436	0.63455	0.0:0.0:0.0:1.0	.	77;77;77	Q5JSB5;Q5JSB6;Q14186	.;.;TFDP1_HUMAN	A	77	ENSP00000364519:V77A;ENSP00000386145:V77A;ENSP00000401389:V77A	ENSP00000364519:V77A	V	+	2	0	TFDP1	113333982	1.000000	0.71417	0.958000	0.39756	0.923000	0.55619	7.170000	0.77587	1.734000	0.51633	0.260000	0.18958	GTG		0.592	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		23	79	0	0	0	0	23	79				
NIN	51199	broad.mit.edu	37	14	51228570	51228570	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr14:51228570C>G	ENST00000382041.3	-	16	2024	c.1834G>C	c.(1834-1836)Gaa>Caa	p.E612Q	NIN_ENST00000389868.3_Missense_Mutation_p.E612Q|NIN_ENST00000382043.4_Missense_Mutation_p.E612Q|NIN_ENST00000324330.9_Missense_Mutation_p.E612Q|NIN_ENST00000245441.5_Missense_Mutation_p.E612Q|NIN_ENST00000530997.2_Missense_Mutation_p.E612Q|NIN_ENST00000453196.1_Missense_Mutation_p.E612Q	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	612					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.E618Q(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTCATCTGTTCAATGACCAGC	0.438			T	PDGFRB	MPD																																	uc001wym.2		NA		Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(1834-1836)GAA>CAA		ninein isoform 5							309.0	263.0	278.0					14																	51228570		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51228570C>G	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.1834G>C	14.37:g.51228570C>G	ENSP00000371472:p.Glu612Gln					NIN_uc001wyi.2_Missense_Mutation_p.E612Q|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.E612Q|NIN_uc010tqp.1_Missense_Mutation_p.E618Q|NIN_uc001wyo.2_Missense_Mutation_p.E612Q	p.E612Q	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			16	2025	-	all_epithelial(31;0.00244)|Breast(41;0.127)		612					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.1834G>C	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.417303|4.417303	0.83449|0.83449	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T;T;T|.	0.18960|.	2.7;2.18;2.19;2.44;2.44;2.44|.	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.77322|.	0.4113|.	M|M	0.77103|0.77103	2.36|2.36	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D;D|.	0.89917|.	0.998;0.998;0.99;1.0;0.958|.	D;D;P;D;P|.	0.83275|.	0.96;0.947;0.877;0.996;0.677|.	T|.	0.77728|.	-0.2479|.	10|.	0.42905|.	T|.	0.14|.	-16.034|-16.034	18.0177|18.0177	0.89246|0.89246	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	618;612;612;612;612|.	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7|.	.;.;NIN_HUMAN;.;.|.	Q|S	612;595;612;612;618;612;612;612|102	ENSP00000245441:E612Q;ENSP00000374518:E612Q;ENSP00000371474:E612Q;ENSP00000371472:E612Q;ENSP00000324210:E612Q;ENSP00000412391:E612Q|.	ENSP00000245441:E612Q|.	E|X	-|-	1|2	0|2	NIN|NIN	50298320|50298320	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.990000|0.990000	0.78478|0.78478	6.364000|6.364000	0.73086|0.73086	2.507000|2.507000	0.84556|0.84556	0.655000|0.655000	0.94253|0.94253	GAA|TGA		0.438	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		57	329	0	0	0	0	57	329				
GTF2A1	2957	broad.mit.edu	37	14	81670382	81670382	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr14:81670382G>C	ENST00000553612.1	-	3	602	c.199C>G	c.(199-201)Cta>Gta	p.L67V	GTF2A1_ENST00000434192.2_Missense_Mutation_p.L28V|SNORA79_ENST00000408376.1_RNA	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	67					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.L67V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		acttgcagtagaagctgctgc	0.463																																						uc001xvf.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	breast(1)	1						c.(199-201)CTA>GTA		TFIIA alpha, p55 isoform 1							157.0	97.0	117.0					14																	81670382		2203	4300	6503	SO:0001583	missense	2957				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity	g.chr14:81670382G>C	X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"""General transcription factors"""	4646	protein-coding gene	gene with protein product		600520	"""glucose regulated protein, 58kD pseudogene"""			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.199C>G	14.37:g.81670382G>C	ENSP00000452454:p.Leu67Val					GTF2A1_uc010atb.1_Missense_Mutation_p.L17V|GTF2A1_uc001xvg.1_Missense_Mutation_p.L28V|GTF2A1_uc001xvh.1_Missense_Mutation_p.L28V|SNORA79_uc001xvi.1_5'Flank	p.L67V	NM_015859	NP_056943	P52655	TF2AA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0287)	3	631	-			67					Q3KNQ9	Missense_Mutation	SNP	ENST00000553612.1	37	c.199C>G	CCDS9873.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911042	0.33721	.	.	ENSG00000165417	ENST00000553612;ENST00000344860;ENST00000434192	T;T	0.05382	3.45;3.45	5.74	3.21	0.36854	.	0.226330	0.37053	N	0.002265	T	0.16769	0.0403	M	0.61703	1.905	0.44073	D	0.996824	P;D	0.57257	0.927;0.979	D;D	0.71414	0.953;0.973	T	0.02639	-1.1130	10	0.23891	T	0.37	-7.2188	8.7642	0.34694	0.6755:0.0:0.3245:0.0	.	28;67	P52655-2;P52655	.;TF2AA_HUMAN	V	67;28;28	ENSP00000452454:L67V;ENSP00000409492:L28V	ENSP00000298173:L67V	L	-	1	2	GTF2A1	80740135	1.000000	0.71417	0.991000	0.47740	0.928000	0.56348	2.334000	0.43920	0.372000	0.24591	-0.253000	0.11424	CTA		0.463	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1	NM_015859		32	89	0	0	0	0	32	89				
OR4N4	283694	broad.mit.edu	37	15	22383148	22383148	+	Missense_Mutation	SNP	C	C	T	rs200194923		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr15:22383148C>T	ENST00000328795.4	+	1	767	c.676C>T	c.(676-678)Cgt>Tgt	p.R226C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTGCCATGTTCGTAGGGCAGC	0.483													c|||	1	0.000199681	0.0	0.0	5008	,	,		27986	0.001		0.0	False		,,,				2504	0.0					uc001yuc.1		NA																	0				ovary(4)|skin(1)	5						c.(676-678)CGT>TGT		olfactory receptor, family 4, subfamily N,							172.0	143.0	153.0					15																	22383148		2192	4261	6453	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383148C>T	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.676C>T	15.37:g.22383148C>T	ENSP00000332500:p.Arg226Cys					LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.R226C	p.R226C	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1657	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	226			Cytoplasmic (Potential).		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.676C>T	CCDS32173.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	1.691	-0.504039	0.04261	.	.	ENSG00000183706	ENST00000328795	T	0.00084	8.75	3.37	1.16	0.20824	GPCR, rhodopsin-like superfamily (1);	1.590230	0.03713	N	0.250589	T	0.00178	0.0005	L	0.40543	1.245	0.09310	N	1	B	0.20550	0.046	B	0.23574	0.047	T	0.41197	-0.9522	10	0.72032	D	0.01	0.5643	9.288	0.37769	0.3769:0.6231:0.0:0.0	.	226	Q8N0Y3	OR4N4_HUMAN	C	226	ENSP00000332500:R226C	ENSP00000332500:R226C	R	+	1	0	OR4N4	19884512	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.828000	0.00745	0.704000	0.31869	0.404000	0.27445	CGT		0.483	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			24	321	0	0	0	0	24	321				
SNRPN	6638	broad.mit.edu	37	15	25223367	25223367	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr15:25223367G>C	ENST00000400100.1	+	12	1477	c.587G>C	c.(586-588)aGa>aCa	p.R196T	SNRPN_ENST00000400098.1_Missense_Mutation_p.R196T|SNRPN_ENST00000577565.1_Missense_Mutation_p.R196T|SNRPN_ENST00000554227.2_Missense_Mutation_p.R200T|SNRPN_ENST00000400097.1_Missense_Mutation_p.R196T|SNRPN_ENST00000346403.6_Missense_Mutation_p.R196T|SNURF_ENST00000551312.2_Intron|SNHG14_ENST00000551631.2_RNA|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000444203.2_Missense_Mutation_p.R200T|SNRPN_ENST00000390687.4_Missense_Mutation_p.R196T	NM_022807.2	NP_073718.1	P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	196	Repeat-rich region.				response to hormone (GO:0009725)|RNA splicing (GO:0008380)	small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U2 snRNP (GO:0005686)	RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CCTGGTATGAGACCACCCATG	0.507									Prader-Willi syndrome																													uc001ywp.1		NA																	0				ovary(1)	1						c.(586-588)AGA>ACA		small nuclear ribonucleoprotein polypeptide N							107.0	111.0	110.0					15																	25223367		1865	4100	5965	SO:0001583	missense	6638	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding	g.chr15:25223367G>C	L80005	CCDS10017.1	15q11.2	2013-07-16			ENSG00000128739	ENSG00000128739			11164	protein-coding gene	gene with protein product	"""tissue-specific splicing protein"", ""SM protein N"", ""small nuclear ribonucleoprotein N"""	182279	"""Prader-Willi syndrome chromosome region"""	PWCR		1533223	Standard	NM_022805		Approved	SMN, SM-D, HCERN3, SNRNP-N, SNURF-SNRPN, RT-LI	uc001ywt.1	P63162	OTTHUMG00000129180	ENST00000400100.1:c.587G>C	15.37:g.25223367G>C	ENSP00000382972:p.Arg196Thr					SNRPN_uc001ywq.1_Missense_Mutation_p.R196T|SNRPN_uc001ywr.1_Missense_Mutation_p.R196T|SNRPN_uc001yws.1_Missense_Mutation_p.R196T|SNRPN_uc001ywt.1_Missense_Mutation_p.R196T|SNRPN_uc001ywv.1_Missense_Mutation_p.R199T|SNRPN_uc001yww.1_Missense_Mutation_p.R196T|SNRPN_uc001ywx.1_Missense_Mutation_p.R196T|SNRPN_uc001ywz.1_RNA|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR	p.R196T	NM_022807	NP_073718	P63162	RSMN_HUMAN		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)	12	1477	+		all_cancers(20;9.33e-22)|Breast(32;0.000625)	196			Repeat-rich region.|		B3KVR1|P14648|P17135|Q0D2Q5	Missense_Mutation	SNP	ENST00000400100.1	37	c.587G>C	CCDS10017.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262195	0.59431	.	.	ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000128739;ENSG00000214265	ENST00000400100;ENST00000400098;ENST00000400097;ENST00000554227;ENST00000390687;ENST00000444203;ENST00000346403	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	3.83	3.83	0.44106	.	0.096362	0.64402	D	0.000001	T	0.36496	0.0969	L	0.57536	1.79	0.80722	D	1	P;P	0.39809	0.689;0.689	B;B	0.31547	0.132;0.132	T	0.49960	-0.8883	10	0.87932	D	0	-14.6559	14.0424	0.64684	0.0:0.0:1.0:0.0	.	200;196	B3KVR1;P63162	.;RSMN_HUMAN	T	196;196;196;200;196;200;55	ENSP00000382972:R196T;ENSP00000382970:R196T;ENSP00000382969:R196T;ENSP00000452342:R200T;ENSP00000375105:R196T;ENSP00000408767:R200T	ENSP00000306223:R55T	R	+	2	0	SNRPN;SNURF	22774460	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.293000	0.89932	2.435000	0.82474	0.591000	0.81541	AGA		0.507	SNRPN-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413849.10	NM_003097		23	249	0	0	0	0	23	249				
NEDD4	4734	broad.mit.edu	37	15	56132818	56132818	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr15:56132818C>T	ENST00000508342.1	-	16	3502	c.3203G>A	c.(3202-3204)gGc>gAc	p.G1068D	NEDD4_ENST00000338963.2_Missense_Mutation_p.G996D|NEDD4_ENST00000435532.3_Missense_Mutation_p.G649D|NEDD4_ENST00000506154.1_Missense_Mutation_p.G1052D	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1068	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CAACAGTTTGCCATGATAAAC	0.338																																						uc002adj.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(3202-3204)GGC>GAC		neural precursor cell expressed, developmentally							116.0	119.0	118.0					15																	56132818		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56132818C>T	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.3203G>A	15.37:g.56132818C>T	ENSP00000424827:p.Gly1068Asp					NEDD4_uc002adl.2_Missense_Mutation_p.G649D|NEDD4_uc002adi.2_Missense_Mutation_p.G996D|NEDD4_uc010ugj.1_Missense_Mutation_p.G1052D|NEDD4_uc010bfm.2_Missense_Mutation_p.G1051D|NEDD4_uc002adk.2_RNA	p.G1068D	NM_198400	NP_006145	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	16	3503	-			1068			HECT.		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.3203G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.067510|5.067510	0.93898|0.93898	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	.|T;T;T;T	.|0.49720	.|0.77;0.77;0.77;0.77	5.99|5.99	5.99|5.99	0.97316|0.97316	.|HECT (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77157|0.77157	0.4089|0.4089	M|M	0.91140|0.91140	3.18|3.18	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.997;0.999;0.999	T|T	0.81090|0.81090	-0.1090|-0.1090	5|10	.|0.87932	.|D	.|0	.|.	19.5255|19.5255	0.95203|0.95203	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1052;649;1068;996	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	T|D	659|1068;649;996;1052	.|ENSP00000424827:G1068D;ENSP00000410613:G649D;ENSP00000345530:G996D;ENSP00000422705:G1052D	.|ENSP00000345530:G996D	A|G	-|-	1|2	0|0	NEDD4|NEDD4	53920110|53920110	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.815000|7.815000	0.86186|0.86186	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	GCA|GGC		0.338	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		5	203	0	0	0	0	5	203				
SIN3A	25942	broad.mit.edu	37	15	75704051	75704051	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr15:75704051G>T	ENST00000394947.3	-	6	1104	c.790C>A	c.(790-792)Cag>Aag	p.Q264K	SIN3A_ENST00000394949.4_Missense_Mutation_p.Q264K|SIN3A_ENST00000360439.4_Missense_Mutation_p.Q264K	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.Q264K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GGAGTCTGCTGACTGGCCGGA	0.512																																						uc002bai.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	skin(3)|ovary(1)|lung(1)	5						c.(790-792)CAG>AAG		transcriptional co-repressor Sin3A							147.0	143.0	144.0					15																	75704051		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75704051G>T	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.790C>A	15.37:g.75704051G>T	ENSP00000378402:p.Gln264Lys					SIN3A_uc002baj.2_Missense_Mutation_p.Q264K|SIN3A_uc010uml.1_Missense_Mutation_p.Q264K	p.Q264K	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN			6	1049	-			264			Interaction with REST (By similarity).			Missense_Mutation	SNP	ENST00000394947.3	37	c.790C>A	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.760357	0.89932	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.49720	0.77;0.77;0.77	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.42675	0.1213	L	0.42245	1.32	0.80722	D	1	B	0.21753	0.06	B	0.17433	0.018	T	0.28106	-1.0054	10	0.12766	T	0.61	-23.0518	19.8676	0.96824	0.0:0.0:1.0:0.0	.	264	Q96ST3	SIN3A_HUMAN	K	264	ENSP00000378402:Q264K;ENSP00000378403:Q264K;ENSP00000353622:Q264K	ENSP00000353622:Q264K	Q	-	1	0	SIN3A	73491104	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.474000	0.97718	2.941000	0.99782	0.655000	0.94253	CAG		0.512	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		55	193	1	0	4.33e-22	5.08e-22	55	193				
LINS	55180	broad.mit.edu	37	15	101120724	101120724	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr15:101120724G>A	ENST00000314742.8	-	2	546	c.324C>T	c.(322-324)acC>acT	p.T108T	LINS_ENST00000561308.1_Silent_p.T108T|LINS_ENST00000560133.1_Intron|LINS_ENST00000559149.1_5'UTR	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	108										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CATGGAACTCGGTTTTGACAG	0.383																																						uc002bwe.2		NA																	0					0						c.(322-324)ACC>ACT		lines homolog 1							98.0	98.0	98.0					15																	101120724		2202	4300	6502	SO:0001819	synonymous_variant	55180							g.chr15:101120724G>A	AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.324C>T	15.37:g.101120724G>A						LINS1_uc002bwf.2_Silent_p.T108T|LINS1_uc002bwg.2_Silent_p.T108T|LINS1_uc002bwh.2_Silent_p.T108T|LINS1_uc010usa.1_Intron|LINS1_uc002bwi.2_Silent_p.T108T	p.T108T	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		3	615	-	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		108					Q96FW2|Q9NVQ3	Silent	SNP	ENST00000314742.8	37	c.324C>T	CCDS10385.1																																																																																				0.383	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313592.1	NM_018148		11	108	0	0	0	0	11	108				
SETD1A	9739	broad.mit.edu	37	16	30977267	30977267	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr16:30977267C>T	ENST00000262519.8	+	8	2751	c.2065C>T	c.(2065-2067)Cgg>Tgg	p.R689W		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	689					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R689W(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GATGTTAACTCGGCTCCATCA	0.617																																						uc002ead.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)|skin(1)	3						c.(2065-2067)CGG>TGG		SET domain containing 1A							77.0	75.0	76.0					16																	30977267		2197	4300	6497	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30977267C>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2065C>T	16.37:g.30977267C>T	ENSP00000262519:p.Arg689Trp						p.R689W	NM_014712	NP_055527	O15047	SET1A_HUMAN			8	2751	+			689					A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.2065C>T	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.481487	0.44147	.	.	ENSG00000099381	ENST00000262519	D	0.98012	-4.66	4.67	2.55	0.30701	.	0.000000	0.64402	D	0.000001	D	0.98012	0.9345	M	0.61703	1.905	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	D	0.98150	1.0441	10	0.87932	D	0	.	12.3136	0.54942	0.3053:0.6947:0.0:0.0	.	689	O15047	SET1A_HUMAN	W	689	ENSP00000262519:R689W	ENSP00000262519:R689W	R	+	1	2	SETD1A	30884768	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	5.733000	0.68571	1.153000	0.42468	0.655000	0.94253	CGG		0.617	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		42	144	0	0	0	0	42	144				
ZNF267	10308	broad.mit.edu	37	16	31927606	31927606	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr16:31927606G>A	ENST00000300870.10	+	4	2245	c.2036G>A	c.(2035-2037)cGg>cAg	p.R679Q		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	679					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						ACTACACATCGGAGAAGACAT	0.443																																						uc002ecs.3		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(2035-2037)CGG>CAG		zinc finger protein 267							108.0	97.0	101.0					16																	31927606		2197	4300	6497	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31927606G>A	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.2036G>A	16.37:g.31927606G>A	ENSP00000300870:p.Arg679Gln						p.R679Q	NM_003414	NP_003405	Q14586	ZN267_HUMAN			4	2245	+			679			C2H2-type 13.		A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.2036G>A	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	1.167	-0.642098	0.03531	.	.	ENSG00000185947	ENST00000300870	T	0.17691	2.26	0.468	-0.6	0.11642	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04452	0.0122	N	0.02685	-0.53	0.09310	N	0.999999	B	0.19073	0.033	B	0.08055	0.003	T	0.39563	-0.9608	9	0.02654	T	1	.	3.7501	0.08563	0.6241:0.0:0.3759:0.0	.	679	Q14586	ZN267_HUMAN	Q	679	ENSP00000300870:R679Q	ENSP00000300870:R679Q	R	+	2	0	ZNF267	31835107	0.000000	0.05858	0.097000	0.21041	0.092000	0.18411	-0.008000	0.12788	-0.344000	0.08338	-0.339000	0.08088	CGG		0.443	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		7	95	0	0	0	0	7	95				
ZNF267	10308	broad.mit.edu	37	16	31927613	31927613	+	Missense_Mutation	SNP	A	A	T	rs557156700		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr16:31927613A>T	ENST00000300870.10	+	4	2252	c.2043A>T	c.(2041-2043)agA>agT	p.R681S		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	681					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						ATCGGAGAAGACATACTGGAG	0.448													.|||	1	0.000199681	0.0	0.0	5008	,	,		22135	0.001		0.0	False		,,,				2504	0.0					uc002ecs.3		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(2041-2043)AGA>AGT		zinc finger protein 267							110.0	98.0	102.0					16																	31927613		2197	4300	6497	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31927613A>T	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.2043A>T	16.37:g.31927613A>T	ENSP00000300870:p.Arg681Ser						p.R681S	NM_003414	NP_003405	Q14586	ZN267_HUMAN			4	2252	+			681			C2H2-type 13.		A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.2043A>T	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	9.721	1.159688	0.21454	.	.	ENSG00000185947	ENST00000300870	T	0.00653	5.96	0.468	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00524	0.0017	N	0.20986	0.625	0.58432	D	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.61342	-0.7082	9	0.59425	D	0.04	.	3.7328	0.08499	0.3299:0.0:0.0:0.6701	.	681	Q14586	ZN267_HUMAN	S	681	ENSP00000300870:R681S	ENSP00000300870:R681S	R	+	3	2	ZNF267	31835114	0.000000	0.05858	0.361000	0.25849	0.348000	0.29142	-0.896000	0.04114	-0.466000	0.06943	-0.496000	0.04628	AGA		0.448	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		7	94	0	0	0	0	7	94				
DPEP2	64174	broad.mit.edu	37	16	68021883	68021883	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr16:68021883G>A	ENST00000572888.1	-	9	1728	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	DPEP2_ENST00000412757.2_Nonsense_Mutation_p.Q360*|DPEP2_ENST00000393847.1_Nonsense_Mutation_p.Q360*			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	360					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)	p.Q360*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TCCAGCCCCTGAGGGAATCTG	0.557																																						uc010cey.2		NA																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)	skin(1)	1						c.(1078-1080)CAG>TAG		dipeptidase 2 precursor							80.0	76.0	77.0					16																	68021883		2198	4300	6498	SO:0001587	stop_gained	64174				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68021883G>A	AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.1078C>T	16.37:g.68021883G>A	ENSP00000458977:p.Gln360*					DPEP2_uc002evd.3_Nonsense_Mutation_p.Q365*|DPEP2_uc002eve.2_Nonsense_Mutation_p.Q360*|DPEP2_uc002evf.2_RNA	p.Q360*	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)	9	1242	-		Ovarian(137;0.192)	360					B2RCF8|Q6UX92|Q8TC95	Nonsense_Mutation	SNP	ENST00000572888.1	37	c.1078C>T	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	G	42	9.573881	0.99208	.	.	ENSG00000167261	ENST00000393847;ENST00000412757;ENST00000322384	.	.	.	5.84	3.73	0.42828	.	0.306169	0.32028	N	0.006696	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-17.2237	8.9774	0.35944	0.0:0.3041:0.5388:0.1571	.	.	.	.	X	360;360;273	.	ENSP00000314702:Q273X	Q	-	1	0	DPEP2	66579384	0.009000	0.17119	1.000000	0.80357	0.974000	0.67602	0.219000	0.17641	1.431000	0.47355	0.563000	0.77884	CAG		0.557	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1	NM_022355		31	120	0	0	0	0	31	120				
SPEM1	374768	broad.mit.edu	37	17	7324583	7324583	+	Missense_Mutation	SNP	G	G	A	rs199711132		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:7324583G>A	ENST00000323675.3	+	3	614	c.589G>A	c.(589-591)Gag>Aag	p.E197K	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	197					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.E197K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				CATATGGTCCGAGCTGGGCCT	0.637																																						uc002ggv.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(589-591)GAG>AAG		spermatid maturation 1		G	LYS/GLU	2,3876		0,2,1937	49.0	54.0	52.0		589	-0.2	0.0	17		52	1,8225		0,1,4112	yes	missense	SPEM1	NM_199339.2	56	0,3,6049	AA,AG,GG		0.0122,0.0516,0.0248	benign	197/310	7324583	3,12101	1939	4113	6052	SO:0001583	missense	374768				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		g.chr17:7324583G>A	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"""chromosome 17 open reading frame 83"""	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.589G>A	17.37:g.7324583G>A	ENSP00000315554:p.Glu197Lys					FGF11_uc010vtw.1_Intron	p.E197K	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN			3	614	+		Prostate(122;0.173)	197						Missense_Mutation	SNP	ENST00000323675.3	37	c.589G>A	CCDS42254.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.374385	0.24857	5.16E-4	1.22E-4	ENSG00000181323	ENST00000323675	.	.	.	5.77	-0.164	0.13359	.	0.560120	0.16039	N	0.232518	T	0.21674	0.0522	N	0.14661	0.345	0.09310	N	1	B	0.12630	0.006	B	0.11329	0.006	T	0.14337	-1.0476	9	0.51188	T	0.08	-4.2467	5.6852	0.17799	0.3372:0.1386:0.5243:0.0	.	197	Q8N4L4	SPEM1_HUMAN	K	197	.	ENSP00000315554:E197K	E	+	1	0	SPEM1	7265307	0.009000	0.17119	0.001000	0.08648	0.001000	0.01503	0.368000	0.20399	0.111000	0.17947	-0.742000	0.03525	GAG		0.637	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339		5	95	0	0	0	0	5	95				
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:7578413C>T	ENST00000269305.4	-	5	706	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000420246.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M	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	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)	CAGCGCCTCACAACCTCCGTC	0.662		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		159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	p.V173L(54)|p.V173M(40)|p.V173A(8)|p.V173V(8)|p.0?(7)|p.V173G(6)|p.V173fs*1(4)|p.V80L(2)|p.V173fs*59(2)|p.V41L(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.V173E(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.V80M(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.V41M(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(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	GRCh37	CM070299	TP53	M		c.(517-519)GTG>ATG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							51.0	51.0	51.0					17																	7578413		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.chr17:7578413C>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.517G>A	17.37:g.7578413C>T	ENSP00000269305:p.Val173Met	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.V173M|TP53_uc002gih.2_Missense_Mutation_p.V173M|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V41M|TP53_uc010cng.1_Missense_Mutation_p.V41M|TP53_uc002gii.1_Missense_Mutation_p.V41M|TP53_uc010cnh.1_Missense_Mutation_p.V173M|TP53_uc010cni.1_Missense_Mutation_p.V173M|TP53_uc002gij.2_Missense_Mutation_p.V173M|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V80M|TP53_uc002gio.2_Missense_Mutation_p.V41M|TP53_uc010vug.1_Missense_Mutation_p.V134M	p.V173M	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	711	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	173		V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> L (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.517G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408040	0.83340	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99860	-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.997;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.988;0.999;1.0;0.978;0.99;1.0	D	0.96586	0.9434	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173M;ENSP00000352610:V173M;ENSP00000269305:V173M;ENSP00000398846:V173M;ENSP00000391127:V173M;ENSP00000391478:V173M;ENSP00000425104:V41M;ENSP00000423862:V80M	ENSP00000269305:V173M	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		35	65	0	0	0	0	35	65				
MYH13	8735	broad.mit.edu	37	17	10206726	10206726	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:10206726C>A	ENST00000418404.3	-	37	5719	c.5556G>T	c.(5554-5556)aaG>aaT	p.K1852N	MYH13_ENST00000252172.4_Missense_Mutation_p.K1852N|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1852					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.K1852N(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AAGTCATCTCCTTGACTTTGC	0.542																																						uc002gmk.1		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	ovary(4)|skin(2)	6						c.(5554-5556)AAG>AAT		myosin, heavy polypeptide 13, skeletal muscle							149.0	149.0	149.0					17																	10206726		1935	4161	6096	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10206726C>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5556G>T	17.37:g.10206726C>A	ENSP00000404570:p.Lys1852Asn						p.K1852N	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			38	5646	-			1852			Potential.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.5556G>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.315573	0.60524	.	.	ENSG00000006788	ENST00000252172	D	0.83075	-1.68	3.92	0.804	0.18697	Myosin tail (1);	.	.	.	.	D	0.93064	0.7792	H	0.98218	4.175	0.35282	D	0.781437	D	0.69078	0.997	D	0.75484	0.986	D	0.92935	0.6367	9	0.87932	D	0	.	8.5744	0.33590	0.0:0.6439:0.0:0.3561	.	1852	Q9UKX3	MYH13_HUMAN	N	1852	ENSP00000252172:K1852N	ENSP00000252172:K1852N	K	-	3	2	MYH13	10147451	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	0.824000	0.27379	0.405000	0.25532	0.561000	0.74099	AAG		0.542	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		38	279	1	0	3.63e-18	4.17e-18	38	279				
PIGS	94005	broad.mit.edu	37	17	26885585	26885585	+	Silent	SNP	C	C	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:26885585C>A	ENST00000308360.7	-	8	1218	c.843G>T	c.(841-843)ggG>ggT	p.G281G	PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000395346.2_Silent_p.G273G|PIGS_ENST00000543734.1_Silent_p.G220G	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	281					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GGGGATTCACCCCCAACATTG	0.473																																						uc002hbo.2		NA																	0				breast(2)|urinary_tract(1)|kidney(1)	4						c.(841-843)GGG>GGT		phosphatidylinositol glycan anchor biosynthesis,							64.0	56.0	59.0					17																	26885585		2203	4300	6503	SO:0001819	synonymous_variant	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26885585C>A		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.843G>T	17.37:g.26885585C>A						PIGS_uc002hbn.2_Silent_p.G273G|PIGS_uc010wap.1_Silent_p.G220G	p.G281G	NM_033198	NP_149975	Q96S52	PIGS_HUMAN			8	1216	-	Lung NSC(42;0.00431)		281			Lumenal (Potential).		Q6UVX6	Silent	SNP	ENST00000308360.7	37	c.843G>T	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	C	8.693	0.907814	0.17833	.	.	ENSG00000087111	ENST00000268758	.	.	.	5.64	-11.3	0.00108	.	0.000000	0.85682	D	0.000000	T	0.46092	0.1375	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60439	-0.7263	6	0.45353	T	0.12	-20.7753	4.4911	0.11813	0.0753:0.2342:0.2241:0.4664	.	.	.	.	C	25	.	ENSP00000268758:G25C	G	-	1	0	PIGS	23909712	0.001000	0.12720	0.444000	0.26895	0.973000	0.67179	-1.804000	0.01738	-1.803000	0.01242	-0.254000	0.11334	GGT		0.473	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		9	23	1	0	7.48e-07	8.18e-07	9	23				
MYO18A	399687	broad.mit.edu	37	17	27414043	27414043	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:27414043G>A	ENST00000527372.1	-	38	5803	c.5623C>T	c.(5623-5625)Cgg>Tgg	p.R1875W	MYO18A_ENST00000354329.4_Missense_Mutation_p.R1875W|TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000533112.1_Missense_Mutation_p.R1838W|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1875W	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1875					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.R1875W(1)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTCTGTAGCCGCTTGTTCTGT	0.612																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(5623-5625)CGG>TGG		myosin 18A isoform a							63.0	71.0	68.0					17																	27414043		2059	4182	6241	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27414043G>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.5623C>T	17.37:g.27414043G>A	ENSP00000437073:p.Arg1875Trp					MYO18A_uc010wbc.1_Missense_Mutation_p.R1408W|MYO18A_uc002hds.2_Missense_Mutation_p.R1417W|MYO18A_uc010csa.1_Missense_Mutation_p.R1838W|MYO18A_uc002hdu.1_Missense_Mutation_p.R1875W	p.R1875W	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		38	5781	-			1875			Potential.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.5623C>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278571	0.80692	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428;ENST00000546105	D;D;D;D	0.89050	-2.35;-2.46;-2.35;-2.35	5.18	-3.16	0.05217	.	0.000000	0.85682	D	0.000000	D	0.92344	0.7571	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.986	D	0.90846	0.4727	10	0.66056	D	0.02	.	19.7151	0.96113	0.0:0.0:0.5629:0.4371	.	1478;1838;1875;1875	F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;MY18A_HUMAN	W	1875;1838;1838;1875;1875;771;771;1478;156	ENSP00000346291:R1875W;ENSP00000435932:R1838W;ENSP00000434228:R1875W;ENSP00000437073:R1875W	ENSP00000346291:R1875W	R	-	1	2	MYO18A	24438169	0.985000	0.35326	0.991000	0.47740	0.957000	0.61999	0.107000	0.15375	-0.314000	0.08716	-0.226000	0.12346	CGG		0.612	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		18	92	0	0	0	0	18	92				
TMEM132E	124842	broad.mit.edu	37	17	32964713	32964713	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:32964713G>A	ENST00000321639.5	+	10	2745	c.2417G>A	c.(2416-2418)gGc>gAc	p.G806D		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	806						integral component of membrane (GO:0016021)		p.G806D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCGCTGCTGGGCGTCTTCTGC	0.637																																						uc002hif.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	central_nervous_system(1)	1						c.(2416-2418)GGC>GAC		transmembrane protein 132E precursor							71.0	67.0	69.0					17																	32964713		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32964713G>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2417G>A	17.37:g.32964713G>A	ENSP00000316532:p.Gly806Asp						p.G806D	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	2745	+			806			Helical; (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.2417G>A	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674669	0.88445	.	.	ENSG00000181291	ENST00000321639	T	0.22539	1.95	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.49881	0.1583	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.58047	-0.7705	10	0.72032	D	0.01	-30.1165	16.3829	0.83481	0.0:0.0:1.0:0.0	.	806	Q6IEE7	T132E_HUMAN	D	806	ENSP00000316532:G806D	ENSP00000316532:G806D	G	+	2	0	TMEM132E	29988826	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	9.657000	0.98554	2.344000	0.79699	0.478000	0.44815	GGC		0.637	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		19	120	0	0	0	0	19	120				
PLEKHM1	9842	broad.mit.edu	37	17	43516996	43516996	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:43516996G>C	ENST00000430334.3	-	11	3039	c.2906C>G	c.(2905-2907)gCa>gGa	p.A969G	PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A880G	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	969					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)	p.A969G(1)		breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CACCCCGTCTGCGATCTGCGG	0.582																																						uc002ija.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(2905-2907)GCA>GGA		pleckstrin homology domain containing, family M							94.0	73.0	80.0					17																	43516996		2203	4300	6503	SO:0001583	missense	9842				intracellular signal transduction	cytoplasm	metal ion binding	g.chr17:43516996G>C	X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2906C>G	17.37:g.43516996G>C	ENSP00000389913:p.Ala969Gly					PLEKHM1_uc010wjm.1_Missense_Mutation_p.A941G|PLEKHM1_uc002ijb.2_Missense_Mutation_p.A444G	p.A969G	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN			11	3076	-	Renal(3;0.0405)		969					Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Missense_Mutation	SNP	ENST00000430334.3	37	c.2906C>G	CCDS32671.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530373	0.85706	.	.	ENSG00000225190	ENST00000430334;ENST00000446609;ENST00000421073	T;T	0.65732	-0.16;-0.17	5.2	5.2	0.72013	.	0.176477	0.48767	D	0.000173	T	0.76285	0.3966	M	0.71581	2.175	0.50467	D	0.999878	D;D	0.71674	0.998;0.996	D;D	0.72625	0.978;0.934	T	0.71520	-0.4568	10	0.21540	T	0.41	.	16.362	0.83271	0.0:0.0:1.0:0.0	.	880;969	F8W648;Q9Y4G2	.;PKHM1_HUMAN	G	969;918;880	ENSP00000389913:A969G;ENSP00000414352:A880G	ENSP00000414352:A880G	A	-	2	0	PLEKHM1	40872779	1.000000	0.71417	0.316000	0.25252	0.090000	0.18270	6.438000	0.73426	2.720000	0.93068	0.556000	0.70494	GCA		0.582	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1	NM_014798		26	69	0	0	0	0	26	69				
SETBP1	26040	broad.mit.edu	37	18	42533185	42533185	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr18:42533185G>C	ENST00000282030.5	+	4	4176	c.3880G>C	c.(3880-3882)Gac>Cac	p.D1294H		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1294						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D1240H(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GTGGGACAGTGACGTGAGTGG	0.498									Schinzel-Giedion syndrome																													uc010dni.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(3880-3882)GAC>CAC		SET binding protein 1 isoform a							150.0	135.0	140.0					18																	42533185		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42533185G>C	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3880G>C	18.37:g.42533185G>C	ENSP00000282030:p.Asp1294His						p.D1294H	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	4176	+			1294					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.3880G>C	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025144	0.93518	.	.	ENSG00000152217	ENST00000282030	T	0.73047	-0.71	6.17	6.17	0.99709	.	0.272836	0.41294	D	0.000918	T	0.73984	0.3657	N	0.24115	0.695	0.48288	D	0.999622	D	0.56287	0.975	P	0.56960	0.81	T	0.75077	-0.3445	10	0.62326	D	0.03	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1294	Q9Y6X0	SETBP_HUMAN	H	1294	ENSP00000282030:D1294H	ENSP00000282030:D1294H	D	+	1	0	SETBP1	40787183	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	3.879000	0.56138	2.941000	0.99782	0.655000	0.94253	GAC		0.498	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		11	80	0	0	0	0	11	80				
CDH7	1005	broad.mit.edu	37	18	63526222	63526222	+	Silent	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr18:63526222C>T	ENST00000397968.2	+	9	1860	c.1434C>T	c.(1432-1434)aaC>aaT	p.N478N	CDH7_ENST00000536984.2_Silent_p.N478N|CDH7_ENST00000323011.3_Silent_p.N478N	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	478	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TCAATGATAACGCCCCTGAAT	0.428																																						uc002ljz.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1432-1434)AAC>AAT		cadherin 7, type 2 preproprotein							88.0	83.0	85.0					18																	63526222		2203	4300	6503	SO:0001819	synonymous_variant	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63526222C>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1434C>T	18.37:g.63526222C>T						CDH7_uc002lka.2_Silent_p.N478N|CDH7_uc002lkb.2_Silent_p.N478N	p.N478N	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			9	1759	+		Esophageal squamous(42;0.129)	478			Extracellular (Potential).|Cadherin 4.		Q9H157	Silent	SNP	ENST00000397968.2	37	c.1434C>T	CCDS11993.1																																																																																				0.428	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		7	90	0	0	0	0	7	90				
ZNF554	115196	broad.mit.edu	37	19	2834412	2834412	+	Silent	SNP	A	A	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:2834412A>T	ENST00000317243.5	+	5	1377	c.1179A>T	c.(1177-1179)tcA>tcT	p.S393S		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	393					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S393S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGGATCTCATCGCTGACTC	0.532																																						uc002lwm.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(1177-1179)TCA>TCT		zinc finger protein 554							46.0	50.0	48.0					19																	2834412		2180	4294	6474	SO:0001819	synonymous_variant	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2834412A>T	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.1179A>T	19.37:g.2834412A>T						ZNF554_uc002lwl.2_Silent_p.S342S	p.S393S	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1377	+		Hepatocellular(1079;0.137)	393			C2H2-type 4.		Q8NAT3|Q9BWN3	Silent	SNP	ENST00000317243.5	37	c.1179A>T	CCDS42462.1																																																																																				0.532	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		17	81	0	0	0	0	17	81				
RPS28	6234	broad.mit.edu	37	19	8387792	8387792	+	3'UTR	SNP	A	A	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:8387792A>T	ENST00000600659.2	+	0	894				NDUFA7_ENST00000598884.1_5'Flank|NDUFA7_ENST00000301457.2_5'Flank|KANK3_ENST00000330915.3_Silent_p.P799P	NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)										TCTGGGAGCCAGGGGGTGACT	0.592																																						uc010dwa.2		NA																	0					0						c.(2395-2397)CCT>CCA		ankyrin repeat domain 47							58.0	49.0	52.0					19																	8387792		2203	4300	6503	SO:0001624	3_prime_UTR_variant	256949							g.chr19:8387792A>T	D14530	CCDS45953.1	19p13.2	2011-04-06				ENSG00000233927		"""S ribosomal proteins"""	10418	protein-coding gene	gene with protein product	"""40S ribosomal protein S28"""	603685				8415000, 9582194	Standard	NM_001031		Approved	S28	uc002mjn.3	P62857		ENST00000600659.2:c.*653A>T	19.37:g.8387792A>T						NDUFA7_uc002mjm.1_5'Flank	p.P799P	NM_198471	NP_940873	Q6NY19	KANK3_HUMAN			11	2463	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					P25112	Silent	SNP	ENST00000600659.2	37	c.2397T>A	CCDS45953.1																																																																																				0.592	RPS28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461377.3	NM_001031		3	50	0	0	0	0	3	50				
PRKACA	5566	broad.mit.edu	37	19	14217672	14217672	+	Missense_Mutation	SNP	C	C	T	rs56085217		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:14217672C>T	ENST00000308677.4	-	3	333	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Missense_Mutation_p.R38Q	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	46	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> Q (in dbSNP:rs56085217). {ECO:0000269|PubMed:17344846}.		activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GGTCTTGATTCGTTCAAACTG	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		13655	0.0		0.001	False		,,,				2504	0.0					uc002myc.2		NA																	0				lung(1)	1						c.(136-138)CGA>CAA		cAMP-dependent protein kinase catalytic subunit		C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	112.0	108.0	109.0		137,113	3.9	0.8	19	dbSNP_129	109	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	PRKACA	NM_002730.3,NM_207518.1	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	46/352,38/344	14217672	1,13005	2203	4300	6503	SO:0001583	missense	5566				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding	g.chr19:14217672C>T		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.137G>A	19.37:g.14217672C>T	ENSP00000309591:p.Arg46Gln					PRKACA_uc002myb.2_Missense_Mutation_p.R38Q|PRKACA_uc010xnm.1_5'UTR|PRKACA_uc002myd.2_5'UTR	p.R46Q	NM_002730	NP_002721	P17612	KAPCA_HUMAN			3	337	-			46			Protein kinase.		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	ENST00000308677.4	37	c.137G>A	CCDS12304.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.46	1.644844	0.29246	0.0	1.16E-4	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695	T	0.08008	3.14	4.93	3.89	0.44902	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	0.38778	N	0.001575	T	0.07098	0.0180	L	0.33093	0.98	0.27047	N	0.963876	B;B	0.28055	0.126;0.199	B;B	0.19391	0.025;0.01	T	0.18871	-1.0323	10	0.51188	T	0.08	.	11.0373	0.47808	0.0:0.9083:0.0:0.0917	rs56085217	46;38	P17612;P17612-2	KAPCA_HUMAN;.	Q	46;38;46	ENSP00000309591:R46Q	ENSP00000309591:R46Q	R	-	2	0	PRKACA	14078672	0.936000	0.31750	0.778000	0.31720	0.127000	0.20565	7.512000	0.81728	1.073000	0.40885	-0.373000	0.07131	CGA		0.602	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		11	113	0	0	0	0	11	113				
MYO9B	4650	broad.mit.edu	37	19	17305984	17305984	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:17305984C>T	ENST00000594824.1	+	22	3895	c.3748C>T	c.(3748-3750)Cgg>Tgg	p.R1250W	MYO9B_ENST00000397274.2_Missense_Mutation_p.R1250W|MYO9B_ENST00000595618.1_Missense_Mutation_p.R1250W			Q13459	MYO9B_HUMAN	myosin IXB	1250	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCAGTTGGAGCGGCCGACCAG	0.677																																						uc010eak.2		NA																	0				breast(1)	1						c.(3748-3750)CGG>TGG		myosin IXB isoform 1							16.0	21.0	19.0					19																	17305984		1886	4105	5991	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17305984C>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.3748C>T	19.37:g.17305984C>T	ENSP00000471367:p.Arg1250Trp					MYO9B_uc002nfi.2_Missense_Mutation_p.R1250W|MYO9B_uc002nfj.1_Missense_Mutation_p.R1250W|MYO9B_uc002nfl.1_5'Flank	p.R1250W	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			22	3900	+			1250			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.3748C>T		.	.	.	.	.	.	.	.	.	.	C	14.41	2.527282	0.44969	.	.	ENSG00000099331	ENST00000397274	D	0.87491	-2.26	5.52	1.58	0.23477	.	0.000000	0.51477	D	0.000093	D	0.91026	0.7177	M	0.63843	1.955	0.36159	D	0.847974	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.92954	0.6383	10	0.72032	D	0.01	.	12.4199	0.55514	0.5842:0.4158:0.0:0.0	.	1250;1250;1256	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	W	1250	ENSP00000380444:R1250W	ENSP00000380444:R1250W	R	+	1	2	MYO9B	17166984	0.996000	0.38824	0.917000	0.36280	0.009000	0.06853	0.719000	0.25881	1.111000	0.41721	0.561000	0.74099	CGG		0.677	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			9	21	0	0	0	0	9	21				
ZNF493	284443	broad.mit.edu	37	19	21606315	21606315	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:21606315T>G	ENST00000355504.4	+	2	736	c.470T>G	c.(469-471)cTa>cGa	p.L157R	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.L285R	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	157					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L157R(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AGGCATAAGCTAATTCATACT	0.343																																						uc002npx.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(469-471)CTA>CGA		zinc finger protein 493 isoform 1							55.0	57.0	57.0					19																	21606315		2202	4294	6496	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606315T>G	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.470T>G	19.37:g.21606315T>G	ENSP00000347691:p.Leu157Arg					ZNF493_uc002npw.2_Missense_Mutation_p.L285R|ZNF493_uc002npy.2_Missense_Mutation_p.L157R	p.L157R	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	750	+			157			C2H2-type 5.		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.470T>G	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0	-2.810141	0.00074	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.12255	2.7;2.7	0.927	-1.32	0.09201	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03053	0.0090	N	0.01250	-0.93	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.12156	0.002;0.007	T	0.45542	-0.9254	9	0.02654	T	1	.	5.4741	0.16686	0.0:0.0:0.4125:0.5875	.	157;285	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	R	285;157	ENSP00000376110:L285R;ENSP00000347691:L157R	ENSP00000347691:L157R	L	+	2	0	ZNF493	21398155	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-5.539000	0.00115	0.321000	0.23259	0.315000	0.21342	CTA		0.343	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		26	103	0	0	0	0	26	103				
ZNF493	284443	broad.mit.edu	37	19	21606339	21606339	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:21606339A>G	ENST00000355504.4	+	2	760	c.494A>G	c.(493-495)tAt>tGt	p.Y165C	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.Y293C	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y165C(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GAGAAACCCTATAAATGTGAA	0.343																																						uc002npx.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(493-495)TAT>TGT		zinc finger protein 493 isoform 1							56.0	58.0	57.0					19																	21606339		2203	4297	6500	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606339A>G	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.494A>G	19.37:g.21606339A>G	ENSP00000347691:p.Tyr165Cys					ZNF493_uc002npw.2_Missense_Mutation_p.Y293C|ZNF493_uc002npy.2_Missense_Mutation_p.Y165C	p.Y165C	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	774	+			165			C2H2-type 6; degenerate.		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.494A>G	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	9.583	1.123985	0.20959	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.25414	1.8;1.8	0.927	0.927	0.19437	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46908	0.1417	M	0.82433	2.59	0.26841	N	0.968371	D;D	0.89917	0.994;1.0	D;D	0.91635	0.962;0.999	T	0.27262	-1.0079	9	0.72032	D	0.01	.	3.8666	0.09019	0.6748:0.0:0.0:0.3252	.	165;293	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	C	293;165	ENSP00000376110:Y293C;ENSP00000347691:Y165C	ENSP00000347691:Y165C	Y	+	2	0	ZNF493	21398179	0.000000	0.05858	0.180000	0.23079	0.176000	0.22953	-0.715000	0.04997	0.321000	0.23259	0.315000	0.21342	TAT		0.343	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		25	114	0	0	0	0	25	114				
ZNF429	353088	broad.mit.edu	37	19	21719595	21719595	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:21719595A>G	ENST00000358491.4	+	4	948	c.740A>G	c.(739-741)cAt>cGt	p.H247R	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	247					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H247R(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CTTACTAACCATAAGAGAATT	0.383																																						uc002nqd.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(739-741)CAT>CGT		zinc finger protein 429							43.0	46.0	45.0					19																	21719595		2147	4279	6426	SO:0001583	missense	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21719595A>G	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.740A>G	19.37:g.21719595A>G	ENSP00000351280:p.His247Arg					ZNF429_uc010ecu.1_Intron	p.H247R	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN			4	877	+			247			C2H2-type 4.		A6NLV7|Q9BZE6	Missense_Mutation	SNP	ENST00000358491.4	37	c.740A>G	CCDS42537.1	.	.	.	.	.	.	.	.	.	.	.	16.95	3.263668	0.59431	.	.	ENSG00000197013	ENST00000358491	D	0.86865	-2.18	0.876	0.876	0.19138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94052	0.8094	H	0.95539	3.685	0.28364	N	0.920313	D	0.89917	1.0	D	0.73380	0.98	D	0.86025	0.1509	9	0.87932	D	0	.	6.7189	0.23318	1.0:0.0:0.0:0.0	.	247	Q86V71	ZN429_HUMAN	R	247	ENSP00000351280:H247R	ENSP00000351280:H247R	H	+	2	0	ZNF429	21511435	0.989000	0.36119	0.526000	0.27913	0.523000	0.34469	6.278000	0.72614	0.251000	0.21505	0.248000	0.18094	CAT		0.383	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	NM_001001415		14	87	0	0	0	0	14	87				
ZNF100	163227	broad.mit.edu	37	19	21910043	21910043	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:21910043G>A	ENST00000358296.6	-	5	1269	c.1071C>T	c.(1069-1071)tcC>tcT	p.S357S	ZNF100_ENST00000305570.6_Silent_p.S293S	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TAAGGGTTGAGGACTGGTTAA	0.398																																						uc002nqi.2		NA																	0					0						c.(1069-1071)TCC>TCT		zinc finger protein 100							69.0	74.0	72.0					19																	21910043		2198	4296	6494	SO:0001819	synonymous_variant	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21910043G>A	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.1071C>T	19.37:g.21910043G>A						ZNF100_uc002nqh.2_Silent_p.S293S	p.S357S	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN			5	1270	-			357			C2H2-type 7.		Q7M4M0	Silent	SNP	ENST00000358296.6	37	c.1071C>T	CCDS42538.1																																																																																				0.398	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		19	179	0	0	0	0	19	179				
PSG4	5672	broad.mit.edu	37	19	43708353	43708353	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:43708353C>T	ENST00000405312.3	-	2	352	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	PSG4_ENST00000244295.9_Missense_Mutation_p.E39K|PSG4_ENST00000433626.2_Missense_Mutation_p.E39K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	39	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGCTGGGCTTCAATCGTGACT	0.458																																						uc002ovy.2		NA																	0				ovary(1)	1						c.(115-117)GAA>AAA		pregnancy specific beta-1-glycoprotein 4 isoform							134.0	147.0	143.0					19																	43708353		2136	4268	6404	SO:0001583	missense	5672				defense response|female pregnancy	extracellular region		g.chr19:43708353C>T		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.115G>A	19.37:g.43708353C>T	ENSP00000384770:p.Glu39Lys					PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Missense_Mutation_p.E39K|PSG4_uc002ovz.2_Missense_Mutation_p.E39K	p.E39K	NM_002780	NP_002771	Q00888	PSG4_HUMAN			2	217	-		Prostate(69;0.00682)	39			Ig-like V-type.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Missense_Mutation	SNP	ENST00000405312.3	37	c.115G>A	CCDS46093.1	.	.	.	.	.	.	.	.	.	.	N	14.24	2.477517	0.44044	.	.	ENSG00000243137	ENST00000244295;ENST00000405312;ENST00000433626;ENST00000451895	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	1.65	1.65	0.23941	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76695	0.4023	M	0.83312	2.635	0.09310	N	1	P;D;D	0.89917	0.932;1.0;1.0	D;D;D	0.97110	0.929;1.0;0.999	T	0.61337	-0.7083	9	0.87932	D	0	.	6.8053	0.23774	0.0:1.0:0.0:0.0	.	39;39;39	E7EX79;Q00888-2;Q00888	.;.;PSG4_HUMAN	K	39;39;39;55	ENSP00000244295:E39K;ENSP00000384770:E39K;ENSP00000387864:E39K;ENSP00000388134:E55K	ENSP00000244295:E39K	E	-	1	0	PSG4	48400193	0.000000	0.05858	0.005000	0.12908	0.049000	0.14656	-0.031000	0.12287	1.251000	0.43983	0.173000	0.16961	GAA		0.458	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		45	385	0	0	0	0	45	385				
ZNF221	7638	broad.mit.edu	37	19	44471151	44471151	+	Silent	SNP	C	C	A	rs79157058	byFrequency	TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:44471151C>A	ENST00000251269.5	+	6	1825	c.1497C>A	c.(1495-1497)ctC>ctA	p.L499L	ZNF221_ENST00000587682.1_Silent_p.L499L|ZNF221_ENST00000592350.1_Silent_p.L499L	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	499					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L499L(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				ATCAGAGACTCCACAGTGGGG	0.458																																						uc002oxx.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	skin(1)	1						c.(1495-1497)CTC>CTA		zinc finger protein 221							77.0	77.0	77.0					19																	44471151		2203	4300	6503	SO:0001819	synonymous_variant	7638				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44471151C>A	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1497C>A	19.37:g.44471151C>A						ZNF221_uc010ejb.1_Silent_p.L499L|ZNF221_uc010xws.1_Silent_p.L499L	p.L499L	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN			6	1825	+		Prostate(69;0.0352)	499			C2H2-type 12.		B2RAI6|Q2M2H2|Q9P1U8	Silent	SNP	ENST00000251269.5	37	c.1497C>A	CCDS12633.1																																																																																				0.458	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460068.1			32	129	1	0	4.32e-19	4.98e-19	32	129				
TMC4	147798	broad.mit.edu	37	19	54664984	54664984	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:54664984G>A	ENST00000376591.4	-	12	1849	c.1718C>T	c.(1717-1719)tCc>tTc	p.S573F	LENG1_ENST00000222224.3_5'Flank|TMC4_ENST00000416963.1_Missense_Mutation_p.S155F|TMC4_ENST00000301187.4_Missense_Mutation_p.S567F	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	573					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGAGCAGGTGGAGAAGAGGGT	0.552																																						uc010erf.2		NA																	0				pancreas(1)	1						c.(1717-1719)TCC>TTC		transmembrane channel-like 4 isoform 1							18.0	24.0	22.0					19																	54664984		2197	4298	6495	SO:0001583	missense	147798					integral to membrane		g.chr19:54664984G>A	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1718C>T	19.37:g.54664984G>A	ENSP00000365776:p.Ser573Phe					LENG1_uc002qdm.2_5'Flank|TMC4_uc002qdn.2_Missense_Mutation_p.S287F|TMC4_uc002qdo.2_Missense_Mutation_p.S567F	p.S573F	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN			12	1850	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		573			Cytoplasmic (Potential).		Q7Z5M3|Q8N5E4|Q8TBS7	Missense_Mutation	SNP	ENST00000376591.4	37	c.1718C>T	CCDS46174.1	.	.	.	.	.	.	.	.	.	.	G	4.658	0.122426	0.08931	.	.	ENSG00000167608	ENST00000301187;ENST00000416963;ENST00000376591	T;T;T	0.63417	-0.04;-0.04;-0.04	4.73	2.59	0.31030	.	0.710968	0.14711	N	0.302950	T	0.51227	0.1662	L	0.53249	1.67	0.32416	N	0.550004	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.12156	0.007;0.005;0.003	T	0.50898	-0.8773	10	0.10377	T	0.69	-17.5171	8.8867	0.35406	0.1806:0.0:0.8194:0.0	.	573;567;155	Q7Z404;Q7Z404-1;Q7Z404-3	TMC4_HUMAN;.;.	F	567;155;573	ENSP00000301187:S567F;ENSP00000405023:S155F;ENSP00000365776:S573F	ENSP00000301187:S567F	S	-	2	0	TMC4	59356796	0.992000	0.36948	1.000000	0.80357	0.892000	0.51952	0.407000	0.21049	0.565000	0.29255	-0.264000	0.10439	TCC		0.552	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			6	28	0	0	0	0	6	28				
LILRA3	11026	broad.mit.edu	37	19	54803127	54803127	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:54803127C>T	ENST00000251390.3	-	4	641	c.550G>A	c.(550-552)Gtg>Atg	p.V184M	LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000391745.1_Missense_Mutation_p.V201M	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	184	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.V184M(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACGGGGCCCACGGAGAAGATG	0.567																																						uc002qfd.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(550-552)GTG>ATG		leukocyte immunoglobulin-like receptor,							130.0	110.0	117.0					19																	54803127		2195	4163	6358	SO:0001583	missense	11026				defense response	extracellular region|plasma membrane	antigen binding|receptor activity	g.chr19:54803127C>T	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.550G>A	19.37:g.54803127C>T	ENSP00000251390:p.Val184Met					LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Intron	p.V184M	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	615	-	Ovarian(34;0.19)		184			Ig-like C2-type 2.		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.550G>A	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713240	0.30413	.	.	ENSG00000170866	ENST00000251390;ENST00000391745	T;T	0.00792	5.69;5.69	2.21	0.0188	0.14118	Immunoglobulin-like fold (1);	0.499376	0.16837	N	0.197508	T	0.01189	0.0039	L	0.39514	1.22	0.09310	N	1	D	0.65815	0.995	P	0.53518	0.728	T	0.52866	-0.8518	10	0.48119	T	0.1	.	4.2498	0.10689	0.0:0.6373:0.0:0.3627	.	184	Q8N6C8	LIRA3_HUMAN	M	184;201	ENSP00000251390:V184M;ENSP00000375625:V201M	ENSP00000251390:V184M	V	-	1	0	LILRA3	59494939	0.007000	0.16637	0.028000	0.17463	0.014000	0.08584	0.231000	0.17872	0.085000	0.17107	-0.236000	0.12185	GTG		0.567	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			53	55	0	0	0	0	53	55				
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						uc002qqo.2		NA																	2	Substitution - coding silent(2)		kidney(2)		0						c.(994-996)TCG>TCC		zinc finger protein 814							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G						ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron	p.S332S	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			3	1268	-			332			C2H2-type 5.		A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		2	6	0	0	0	0	2	6				
GREB1	9687	broad.mit.edu	37	2	11780421	11780421	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr2:11780421G>A	ENST00000381486.2	+	33	5991	c.5691G>A	c.(5689-5691)gcG>gcA	p.A1897A	GREB1_ENST00000234142.5_Silent_p.A1897A|GREB1_ENST00000396123.1_Silent_p.A895A	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1897						integral component of membrane (GO:0016021)		p.A1897A(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACGCAGGTGCGACGTTGTGTG	0.602																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(5689-5691)GCG>GCA		growth regulation by estrogen in breast cancer 1							46.0	48.0	48.0					2																	11780421		2055	4202	6257	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11780421G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.5691G>A	2.37:g.11780421G>A						GREB1_uc002rbp.1_Silent_p.A895A	p.A1897A	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	33	5991	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1897					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.5691G>A	CCDS42655.1																																																																																				0.602	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		20	58	0	0	0	0	20	58				
WDR35	57539	broad.mit.edu	37	2	20141576	20141576	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr2:20141576T>C	ENST00000345530.3	-	18	2018	c.1903A>G	c.(1903-1905)Att>Gtt	p.I635V	WDR35_ENST00000281405.4_Missense_Mutation_p.I624V|WDR35_ENST00000416055.2_Missense_Mutation_p.I200V	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	635					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAATTACAAATATATCCAGAG	0.284																																						uc002rdi.2		NA																	0				ovary(1)	1						c.(1903-1905)ATT>GTT		WD repeat domain 35 isoform 1							28.0	29.0	29.0					2																	20141576		2184	4287	6471	SO:0001583	missense	57539							g.chr2:20141576T>C	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.1903A>G	2.37:g.20141576T>C	ENSP00000314444:p.Ile635Val					WDR35_uc002rdj.2_Missense_Mutation_p.I624V|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Missense_Mutation_p.I200V|WDR35_uc002rdk.3_Missense_Mutation_p.I200V	p.I635V	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN			18	2011	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		635					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.1903A>G	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111972	0.77210	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	T;T;T;D	0.90004	-0.5;-0.5;-1.14;-2.6	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.92731	0.7689	M	0.76938	2.355	0.80722	D	1	P;D;P;P	0.76494	0.839;0.999;0.855;0.845	P;D;B;P	0.81914	0.73;0.995;0.348;0.674	D	0.90610	0.4551	10	0.02654	T	1	-24.4823	14.6998	0.69147	0.0:0.0:0.0:1.0	.	635;624;635;200	F8WB94;Q9P2L0-2;Q9P2L0;B3KR94	.;.;WDR35_HUMAN;.	V	635;624;200;170	ENSP00000314444:I635V;ENSP00000281405:I624V;ENSP00000399159:I200V;ENSP00000404409:I170V	ENSP00000281405:I624V	I	-	1	0	WDR35	20005057	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.590000	0.82653	2.153000	0.67306	0.533000	0.62120	ATT		0.284	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		4	19	0	0	0	0	4	19				
KCNG3	170850	broad.mit.edu	37	2	42671599	42671599	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr2:42671599G>C	ENST00000306078.1	-	2	1381	c.786C>G	c.(784-786)atC>atG	p.I262M	KCNG3_ENST00000394973.4_Missense_Mutation_p.I251M	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	262					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.I262M(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						AATACGGCGTGATTGCCAGTA	0.463																																						uc002rsn.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	central_nervous_system(1)	1						c.(784-786)ATC>ATG		potassium voltage-gated channel, subfamily G,							118.0	105.0	109.0					2																	42671599		2203	4300	6503	SO:0001583	missense	170850					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding	g.chr2:42671599G>C	AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.786C>G	2.37:g.42671599G>C	ENSP00000304127:p.Ile262Met					KCNG3_uc002rsm.2_Missense_Mutation_p.I251M	p.I262M	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN			2	1382	-			262			Helical; Name=Segment S3; (Potential).		Q53SC1	Missense_Mutation	SNP	ENST00000306078.1	37	c.786C>G	CCDS1809.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.599712	0.46318	.	.	ENSG00000171126	ENST00000306078;ENST00000394973	D;D	0.98849	-5.18;-5.18	5.16	4.29	0.51040	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99165	0.9711	H	0.94847	3.59	0.46725	D	0.999179	D;D	0.76494	0.999;0.997	D;D	0.87578	0.998;0.994	D	0.99533	1.0961	10	0.87932	D	0	.	5.9568	0.19277	0.1691:0.0:0.6776:0.1533	.	262;251	Q8TAE7;Q8TAE7-2	KCNG3_HUMAN;.	M	262;251	ENSP00000304127:I262M;ENSP00000378424:I251M	ENSP00000304127:I262M	I	-	3	3	KCNG3	42525103	1.000000	0.71417	0.981000	0.43875	0.911000	0.54048	3.753000	0.55180	1.172000	0.42781	0.563000	0.77884	ATC		0.463	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	NM_172344		38	107	0	0	0	0	38	107				
COBLL1	22837	broad.mit.edu	37	2	165551002	165551002	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr2:165551002T>A	ENST00000392717.2	-	13	3132	c.3128A>T	c.(3127-3129)aAt>aTt	p.N1043I	COBLL1_ENST00000409184.3_Missense_Mutation_p.N1005I|COBLL1_ENST00000194871.6_Missense_Mutation_p.N1072I|COBLL1_ENST00000342193.4_Missense_Mutation_p.N1005I|COBLL1_ENST00000375458.2_Missense_Mutation_p.N967I			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1043						extracellular vesicular exosome (GO:0070062)		p.N1005I(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGTCTTCAGATTTTGTGTGGA	0.478																																						uc010zcw.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)|pancreas(1)	3						c.(3214-3216)AAT>ATT		COBL-like 1							108.0	107.0	107.0					2																	165551002		2203	4300	6503	SO:0001583	missense	22837							g.chr2:165551002T>A	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.3128A>T	2.37:g.165551002T>A	ENSP00000376478:p.Asn1043Ile					COBLL1_uc002ucp.2_Missense_Mutation_p.N1005I|COBLL1_uc002ucq.2_Missense_Mutation_p.N967I|COBLL1_uc010zcx.1_Missense_Mutation_p.N1013I|COBLL1_uc002ucn.2_Missense_Mutation_p.N433I|COBLL1_uc002uco.2_Missense_Mutation_p.N736I	p.N1072I	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN			15	3339	-			1043					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Missense_Mutation	SNP	ENST00000392717.2	37	c.3215A>T		.	.	.	.	.	.	.	.	.	.	T	14.90	2.673564	0.47781	.	.	ENSG00000082438	ENST00000375458;ENST00000342193;ENST00000409184;ENST00000392717;ENST00000194871	.	.	.	5.75	3.26	0.37387	.	0.074188	0.56097	D	0.000028	T	0.53834	0.1821	M	0.62723	1.935	0.09310	N	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.72625	0.951;0.965;0.978	T	0.34650	-0.9820	9	0.42905	T	0.14	-24.9547	6.6315	0.22859	0.0:0.1337:0.1345:0.7318	.	1043;1072;1005	Q53SF7;B7Z2P5;Q53SF7-2	COBL1_HUMAN;.;.	I	967;1005;1005;1043;1072	.	ENSP00000194871:N1072I	N	-	2	0	COBLL1	165259248	0.984000	0.35163	0.136000	0.22124	0.735000	0.41995	2.029000	0.41098	2.195000	0.70347	0.533000	0.62120	AAT		0.478	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		10	76	0	0	0	0	10	76				
UBR3	130507	broad.mit.edu	37	2	170936487	170936487	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr2:170936487T>C	ENST00000272793.5	+	37	5413	c.5363T>C	c.(5362-5364)cTg>cCg	p.L1788P	UBR3_ENST00000392631.1_Missense_Mutation_p.L609P|UBR3_ENST00000418381.1_Missense_Mutation_p.L1788P			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1788	Cys-rich.				embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTTGTATGCCTGAAAGGACTT	0.378																																						uc010zdi.1		NA																	0					0						c.(5362-5364)CTG>CCG		E3 ubiquitin-protein ligase UBR3							161.0	147.0	152.0					2																	170936487		2203	4300	6503	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170936487T>C	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5363T>C	2.37:g.170936487T>C	ENSP00000272793:p.Leu1788Pro					UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Missense_Mutation_p.L609P|UBR3_uc002uft.3_Missense_Mutation_p.L645P|UBR3_uc010zdj.1_Missense_Mutation_p.L479P|UBR3_uc002ufu.3_Missense_Mutation_p.L294P	p.L1788P	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN			37	5363	+			1788			Cys-rich.		B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.5363T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.6|22.6	4.309370|4.309370	0.81247|0.81247	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681|ENST00000392632	T;T;T;T|.	0.48836|.	0.8;0.8;0.8;0.8|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75774|.	0.3895|.	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.998;1.0;0.995|.	D;D;D|.	0.81914|.	0.995;0.984;0.986|.	T|.	0.77230|.	-0.2664|.	10|.	0.34782|.	T|.	0.22|.	.|.	15.362|15.362	0.74483|0.74483	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1788;609;1817|.	Q6ZT12;Q6ZT12-2;E7EVK3|.	UBR3_HUMAN;.;.|.	P|R	1788;1817;1788;609;488|850	ENSP00000272793:L1788P;ENSP00000396068:L1788P;ENSP00000376408:L609P;ENSP00000389097:L488P|.	ENSP00000272793:L1788P|.	L|X	+|+	2|1	0|0	UBR3|UBR3	170644733|170644733	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.655000|7.655000	0.83696|0.83696	2.078000|2.078000	0.62432|0.62432	0.528000|0.528000	0.53228|0.53228	CTG|TGA		0.378	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		4	221	0	0	0	0	4	221				
CST4	1472	broad.mit.edu	37	20	23667796	23667796	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr20:23667796G>A	ENST00000217423.3	-	2	341	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	91					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.R91C(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CATATGGTGCGGCCCACCTCT	0.572																																						uc002wto.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	breast(1)	1						c.(271-273)CGC>TGC		cystatin S precursor							208.0	186.0	194.0					20																	23667796		2203	4300	6503	SO:0001583	missense	1472					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23667796G>A		CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.271C>T	20.37:g.23667796G>A	ENSP00000217423:p.Arg91Cys						p.R91C	NM_001899	NP_001890	P01036	CYTS_HUMAN			2	327	-	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)		91					Q9UBI5|Q9UCS9	Missense_Mutation	SNP	ENST00000217423.3	37	c.271C>T	CCDS13159.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.811190	0.32053	.	.	ENSG00000101441	ENST00000217423	T	0.16457	2.34	1.94	-0.601	0.11638	Proteinase inhibitor I25, cystatin (2);	0.140839	0.46758	U	0.000261	T	0.43523	0.1251	M	0.93720	3.45	0.21822	N	0.999528	D	0.89917	1.0	D	0.97110	1.0	T	0.23547	-1.0185	10	0.87932	D	0	.	5.7809	0.18306	0.0:0.0:0.438:0.562	.	91	P01036	CYTS_HUMAN	C	91	ENSP00000217423:R91C	ENSP00000217423:R91C	R	-	1	0	CST4	23615796	0.618000	0.27051	0.044000	0.18714	0.050000	0.14768	0.541000	0.23207	-0.108000	0.12066	0.205000	0.17691	CGC		0.572	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078349.2	NM_001899		27	219	0	0	0	0	27	219				
GGT1	2678	broad.mit.edu	37	22	24982183	24982183	+	Intron	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr22:24982183G>A	ENST00000248923.4	+	1	59				FAM211B_ENST00000495297.1_5'Flank|FAM211B_ENST00000318753.8_Silent_p.L207L	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	AGGCGGGGCAGCGCCCACAGG	0.657																																						uc003aaq.2		NA																	0					0						c.(619-621)CTG>TTG		hypothetical protein LOC388886							59.0	72.0	67.0					22																	24982183		2175	4270	6445	SO:0001627	intron_variant	388886							g.chr22:24982183G>A	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+2407G>A	22.37:g.24982183G>A						GGT1_uc003aan.1_Intron|C22orf36_uc003aao.2_RNA|C22orf36_uc003aap.2_RNA	p.L207L	NM_207644	NP_997527	Q2VPJ9	LRC6X_HUMAN			4	648	-			207			LRR 2.		Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000248923.4	37	c.619C>T	CCDS42992.1																																																																																				0.657	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1	NM_013430		29	82	0	0	0	0	29	82				
APOBEC3C	27350	broad.mit.edu	37	22	39411612	39411612	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr22:39411612G>A	ENST00000361441.4	+	2	310	c.30G>A	c.(28-30)aaG>aaA	p.K10K	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C	10					cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					ACCCGATGAAGGCAATGTATC	0.522																																						uc003awr.2		NA																	0					0						c.(28-30)AAG>AAA		apolipoprotein B mRNA editing enzyme, catalytic							100.0	104.0	102.0					22																	39411612		2203	4300	6503	SO:0001819	synonymous_variant	27350				DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding	g.chr22:39411612G>A	AF165520	CCDS13983.1	22q13.1-q13.2	2014-01-28			ENSG00000244509	ENSG00000244509		"""Apolipoprotein B mRNA editing enzymes"""	17353	protein-coding gene	gene with protein product		607750				11863358	Standard	NM_014508		Approved	APOBEC1L, PBI, bK150C2.3, ARDC2, ARDC4, ARP5	uc003awr.3	Q9NRW3	OTTHUMG00000151087	ENST00000361441.4:c.30G>A	22.37:g.39411612G>A						APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron	p.K10K	NM_014508	NP_055323	Q9NRW3	ABC3C_HUMAN			2	133	+	Melanoma(58;0.04)		10					B2R884|Q5JZ92|Q7Z2N7|Q96F12	Silent	SNP	ENST00000361441.4	37	c.30G>A	CCDS13983.1																																																																																				0.522	APOBEC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321241.2	NM_014508		19	157	0	0	0	0	19	157				
PDZRN3	23024	broad.mit.edu	37	3	73440206	73440206	+	Missense_Mutation	SNP	G	G	A	rs201195316		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr3:73440206G>A	ENST00000263666.4	-	6	1430	c.1316C>T	c.(1315-1317)aCg>aTg	p.T439M	PDZRN3_ENST00000466780.1_Missense_Mutation_p.T96M|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T96M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T161M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T156M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	439	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCATCGTCCGTCCGGTAGCA	0.448																																						uc003dpl.1		NA																	0				pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(1315-1317)ACG>ATG		PDZ domain containing ring finger 3							274.0	254.0	261.0					3																	73440206		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73440206G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1316C>T	3.37:g.73440206G>A	ENSP00000263666:p.Thr439Met					PDZRN3_uc011bgh.1_Missense_Mutation_p.T96M|PDZRN3_uc010hoe.1_Missense_Mutation_p.T137M|PDZRN3_uc011bgf.1_Missense_Mutation_p.T156M|PDZRN3_uc011bgg.1_Missense_Mutation_p.T159M	p.T439M	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	6	1412	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	439			PDZ 2.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1316C>T	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.556335|4.556335	0.86231|0.86231	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000494559|ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	.|T;T;T;T;T;T	.|0.27890	.|1.64;1.64;1.64;1.64;1.64;1.64	5.18|5.18	5.18|5.18	0.71444|0.71444	.|PDZ/DHR/GLGF (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57946|0.57946	0.2088|0.2088	M|M	0.73753|0.73753	2.245|2.245	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.89917	.|0.999;1.0;0.956;1.0	.|D;D;P;D	.|0.91635	.|0.983;0.999;0.801;0.999	T|T	0.61212|0.61212	-0.7108|-0.7108	5|10	.|0.59425	.|D	.|0.04	.|.	18.2949|18.2949	0.90141|0.90141	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|161;156;156;439	.|F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.|.;.;.;PZRN3_HUMAN	W|M	36|439;161;96;96;156;439;137	.|ENSP00000263666:T439M;ENSP00000442026:T161M;ENSP00000418168:T96M;ENSP00000418484:T96M;ENSP00000418624:T156M;ENSP00000419250:T137M	.|ENSP00000263666:T439M	R|T	-|-	1|2	2|0	PDZRN3|PDZRN3	73522896|73522896	1.000000|1.000000	0.71417|0.71417	0.887000|0.887000	0.34795|0.34795	0.942000|0.942000	0.58702|0.58702	9.634000|9.634000	0.98435|0.98435	2.413000|2.413000	0.81919|0.81919	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.448	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		30	308	0	0	0	0	30	308				
CHST13	166012	broad.mit.edu	37	3	126255198	126255198	+	Splice_Site	SNP	T	T	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr3:126255198T>C	ENST00000319340.2	+	2	230		c.e2+2			NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13						carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.?(1)		central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CTGGATCAGGTAGGTGGACAG	0.607																																						uc003eja.2		NA																	1	Unknown(1)		upper_aerodigestive_tract(1)	central_nervous_system(1)	1						c.e2+2		carbohydrate sulfotransferase 13							103.0	101.0	102.0					3																	126255198		2203	4300	6503	SO:0001630	splice_region_variant	166012				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr3:126255198T>C	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.180+2T>C	3.37:g.126255198T>C							p.Q60_splice	NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	2	180	+								Q3SYA3|Q3SYA5	Splice_Site	SNP	ENST00000319340.2	37	c.180_splice	CCDS3039.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.341544	0.41498	.	.	ENSG00000180767	ENST00000319340;ENST00000383575	.	.	.	3.18	3.18	0.36537	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1248	0.30992	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHST13	127737888	1.000000	0.71417	0.992000	0.48379	0.706000	0.40770	1.948000	0.40303	1.677000	0.50941	0.383000	0.25322	.		0.607	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889	Intron	25	90	0	0	0	0	25	90				
SLITRK3	22865	broad.mit.edu	37	3	164907436	164907436	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr3:164907436G>A	ENST00000475390.1	-	2	1626	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	SLITRK3_ENST00000241274.3_Nonsense_Mutation_p.R395*			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	395	LRRNT.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTAAATCCTCGCTCTTTGCAG	0.418										HNSCC(40;0.11)																												uc003fej.3		NA																	0				ovary(6)|skin(3)|pancreas(1)	10						c.(1183-1185)CGA>TGA		slit and trk like 3 protein precursor							131.0	131.0	131.0					3																	164907436		2203	4300	6503	SO:0001587	stop_gained	22865					integral to membrane		g.chr3:164907436G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1183C>T	3.37:g.164907436G>A	ENSP00000420091:p.Arg395*	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Nonsense_Mutation_p.R395*	p.R395*	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1627	-			395			LRRNT.|Extracellular (Potential).		Q1RMY6	Nonsense_Mutation	SNP	ENST00000475390.1	37	c.1183C>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	37	6.401445	0.97537	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	.	.	.	5.58	-0.92	0.10475	.	0.000000	0.31427	N	0.007675	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1685	15.8431	0.78864	0.0:0.0862:0.2145:0.6994	.	.	.	.	X	395	.	ENSP00000241274:R395X	R	-	1	2	SLITRK3	166390130	0.876000	0.30132	0.404000	0.26397	0.988000	0.76386	0.920000	0.28705	-0.364000	0.08088	-0.181000	0.13052	CGA		0.418	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		48	199	0	0	0	0	48	199				
MUC4	4585	broad.mit.edu	37	3	195505814	195505814	+	Missense_Mutation	SNP	C	C	T	rs199819876	byFrequency	TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr3:195505814C>T	ENST00000463781.3	-	2	13096	c.12637G>A	c.(12637-12639)Gac>Aac	p.D4213N	MUC4_ENST00000475231.1_Missense_Mutation_p.D4213N|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.D4213N(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAGTGTCGGTGACAGGA	0.597													.|||	95	0.0189696	0.0151	0.0187	5008	,	,		14244	0.0169		0.0308	False		,,,				2504	0.0143					uc011bto.1		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(12253-12255)GAC>AAC		mucin 4 isoform a							24.0	21.0	22.0					3																	195505814		690	1577	2267	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505814C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12637G>A	3.37:g.195505814C>T	ENSP00000417498:p.Asp4213Asn					MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.D4085N	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	3	12713	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12253G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	0.070	-1.204716	0.01568	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32023	1.47;1.49	.	.	.	.	.	.	.	.	T	0.12860	0.0312	N	0.14661	0.345	0.09310	N	1	B	0.17268	0.021	B	0.06405	0.002	T	0.24083	-1.0170	7	.	.	.	.	4.5334	0.12017	0.0:0.668:0.0:0.332	.	4085	E7ESK3	.	N	4213	ENSP00000417498:D4213N;ENSP00000420243:D4213N	.	D	-	1	0	MUC4	196990593	.	.	0.001000	0.08648	0.001000	0.01503	.	.	-1.791000	0.01261	-1.780000	0.00649	GAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	10	0	0	0	0	3	10				
PPAT	5471	broad.mit.edu	37	4	57269492	57269492	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr4:57269492G>A	ENST00000264220.2	-	4	615	c.478C>T	c.(478-480)Cct>Tct	p.P160S	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	160	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)	p.P160S(1)		cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	TGTTCCTGAGGAGGGGTATAC	0.423																																						uc003hbr.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(478-480)CCT>TCT		phosphoribosyl pyrophosphate amidotransferase	L-Glutamine(DB00130)|Thioguanine(DB00352)						84.0	79.0	81.0					4																	57269492		2203	4300	6503	SO:0001583	missense	5471				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	g.chr4:57269492G>A		CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.478C>T	4.37:g.57269492G>A	ENSP00000264220:p.Pro160Ser						p.P160S	NM_002703	NP_002694	Q06203	PUR1_HUMAN			4	680	-	Glioma(25;0.08)|all_neural(26;0.101)		160			Glutamine amidotransferase type-2.			Missense_Mutation	SNP	ENST00000264220.2	37	c.478C>T	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657140	0.67586	.	.	ENSG00000128059	ENST00000264220	T	0.75938	-0.98	5.51	5.51	0.81932	Glutamine amidotransferase, type II (1);Glutamine amidotransferase, class-II (1);	0.000000	0.85682	D	0.000000	T	0.61185	0.2327	N	0.11284	0.12	0.80722	D	1	B	0.29136	0.234	B	0.35278	0.199	T	0.57545	-0.7793	10	0.13108	T	0.6	-15.5937	19.4001	0.94625	0.0:0.0:1.0:0.0	.	160	Q06203	PUR1_HUMAN	S	160	ENSP00000264220:P160S	ENSP00000264220:P160S	P	-	1	0	PPAT	56964249	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.421000	0.97455	2.593000	0.87608	0.655000	0.94253	CCT		0.423	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703		35	131	0	0	0	0	35	131				
TET2	54790	broad.mit.edu	37	4	106156862	106156862	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr4:106156862C>A	ENST00000540549.1	+	3	2623	c.1763C>A	c.(1762-1764)tCa>tAa	p.S588*	TET2_ENST00000380013.4_Nonsense_Mutation_p.S588*|TET2_ENST00000513237.1_Nonsense_Mutation_p.S609*|TET2_ENST00000413648.2_Nonsense_Mutation_p.S588*|TET2_ENST00000305737.2_Nonsense_Mutation_p.S588*|TET2_ENST00000545826.1_Nonsense_Mutation_p.S588*|TET2_ENST00000394764.1_Nonsense_Mutation_p.S588*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	588					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.S588*(3)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCACTGCCATCAATTCTTCAG	0.468			"""Mis N, F"""		MDS																																	uc003hxk.2		NA		Rec	yes		4	4q24	54790	Mis N|F	tet oncogene family member 2			L			MDS		3	Substitution - Nonsense(3)		haematopoietic_and_lymphoid_tissue(2)|upper_aerodigestive_tract(1)	haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733						c.(1762-1764)TCA>TAA		tet oncogene family member 2 isoform a							72.0	73.0	73.0					4																	106156862		2203	4300	6503	SO:0001587	stop_gained	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106156862C>A	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1763C>A	4.37:g.106156862C>A	ENSP00000442788:p.Ser588*					TET2_uc011cez.1_Nonsense_Mutation_p.S609*|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Nonsense_Mutation_p.S588*|TET2_uc003hxi.1_Nonsense_Mutation_p.S588*	p.S588*	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	2149	+		Myeloproliferative disorder(5;0.0393)	588					B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	ENST00000540549.1	37	c.1763C>A	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052578	0.93793	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	.	.	.	5.59	4.56	0.56223	.	6.324840	0.00496	N	0.000154	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6329	0.62206	0.0:0.9158:0.0:0.0842	.	.	.	.	X	588;588;588;609;588;588;588;588	.	ENSP00000265149:S588X	S	+	2	0	TET2	106376311	0.234000	0.23783	0.021000	0.16686	0.008000	0.06430	2.751000	0.47508	2.631000	0.89168	0.650000	0.86243	TCA		0.468	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		31	84	1	0	2.82e-10	3.16e-10	31	84				
NDST4	64579	broad.mit.edu	37	4	115997944	115997944	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr4:115997944G>A	ENST00000264363.2	-	2	927	c.249C>T	c.(247-249)ttC>ttT	p.F83F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	83	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGCTCTCCACGAAGAGAAGGA	0.433																																						uc003ibu.2		NA																	0				skin(3)|ovary(1)	4						c.(247-249)TTC>TTT		heparan sulfate N-deacetylase/N-sulfotransferase							158.0	175.0	169.0					4																	115997944		2203	4300	6503	SO:0001819	synonymous_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997944G>A	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.249C>T	4.37:g.115997944G>A						NDST4_uc010imw.2_Intron	p.F83F	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	928	-		Ovarian(17;0.156)	83			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Silent	SNP	ENST00000264363.2	37	c.249C>T	CCDS3706.1																																																																																				0.433	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		17	129	0	0	0	0	17	129				
NDST3	9348	broad.mit.edu	37	4	119035975	119035975	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr4:119035975G>A	ENST00000296499.5	+	4	1487	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N	NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	362	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)	p.D362N(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TGAAGAGGAAGATGAAGGAGA	0.423																																						uc003ibx.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	large_intestine(1)	1						c.(1084-1086)GAT>AAT		N-deacetylase/N-sulfotransferase (heparan							153.0	141.0	145.0					4																	119035975		2203	4300	6503	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119035975G>A	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1084G>A	4.37:g.119035975G>A	ENSP00000296499:p.Asp362Asn					NDST3_uc011cgf.1_Intron	p.D362N	NM_004784	NP_004775	O95803	NDST3_HUMAN			4	1487	+			362			Lumenal (Potential).|Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.1084G>A	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.568599	0.86439	.	.	ENSG00000164100	ENST00000296499	T	0.39056	1.1	5.57	5.57	0.84162	.	0.045183	0.85682	D	0.000000	T	0.59473	0.2196	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.48091	-0.9065	10	0.23891	T	0.37	.	19.9278	0.97110	0.0:0.0:1.0:0.0	.	362	O95803	NDST3_HUMAN	N	362	ENSP00000296499:D362N	ENSP00000296499:D362N	D	+	1	0	NDST3	119255423	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.695000	0.98691	2.770000	0.95276	0.650000	0.86243	GAT		0.423	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		14	87	0	0	0	0	14	87				
FBXW7	55294	broad.mit.edu	37	4	153247175	153247175	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr4:153247175T>C	ENST00000281708.4	-	10	2856	c.1627A>G	c.(1627-1629)Aga>Gga	p.R543G	FBXW7_ENST00000263981.5_Missense_Mutation_p.R463G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R425G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R367G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R543G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R543G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	543					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R543G(2)|p.R463G(1)|p.?(1)|p.R304G(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GAATAGACTCTATTAGTATGC	0.408			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NA		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		5	Substitution - Missense(4)|Unknown(1)	p.R543K(1)	upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1627-1629)AGA>GGA		F-box and WD repeat domain containing 7 isoform							158.0	155.0	156.0					4																	153247175		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153247175T>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1627A>G	4.37:g.153247175T>C	ENSP00000281708:p.Arg543Gly					FBXW7_uc011cii.1_Missense_Mutation_p.R543G|FBXW7_uc003imt.2_Missense_Mutation_p.R543G|FBXW7_uc011cih.1_Missense_Mutation_p.R367G|FBXW7_uc003imq.2_Missense_Mutation_p.R463G|FBXW7_uc003imr.2_Missense_Mutation_p.R425G	p.R543G	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			10	1776	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	543			WD 5.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1627A>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	T	18.50	3.637518	0.67130	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.72	3.29	0.37713	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.42562	0.1208	N	0.11154	0.105	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.984;0.988;0.98;0.98	T	0.32981	-0.9886	10	0.37606	T	0.19	-22.4267	12.7167	0.57119	0.0:0.0:0.2901:0.7099	.	367;543;425;463	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	543;425;463;367	ENSP00000281708:R543G;ENSP00000296555:R425G;ENSP00000263981:R463G;ENSP00000377528:R367G	ENSP00000263981:R463G	R	-	1	2	FBXW7	153466625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.482000	0.53186	0.517000	0.28361	0.528000	0.53228	AGA		0.408	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			39	152	0	0	0	0	39	152				
DNAH5	1767	broad.mit.edu	37	5	13883148	13883148	+	Silent	SNP	G	G	A	rs560267080		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:13883148G>A	ENST00000265104.4	-	20	3143	c.3039C>T	c.(3037-3039)agC>agT	p.S1013S	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1013	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S1013S(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCAGAGTGACGCTTGCCCGGA	0.478									Kartagener syndrome				G|||	1	0.000199681	0.0	0.0	5008	,	,		18481	0.0		0.001	False		,,,				2504	0.0					uc003jfd.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(3037-3039)AGC>AGT		dynein, axonemal, heavy chain 5							138.0	128.0	131.0					5																	13883148		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13883148G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3039C>T	5.37:g.13883148G>A							p.S1013S	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			20	3081	-	Lung NSC(4;0.00476)		1013			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.3039C>T	CCDS3882.1																																																																																				0.478	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		94	172	0	0	0	0	94	172				
FYB	2533	broad.mit.edu	37	5	39202059	39202060	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:39202059_39202060CC>AG	ENST00000351578.6	-	2	1193_1194	c.1003_1004GG>CT	c.(1003-1005)GGa>CTa	p.G335L	FYB_ENST00000515010.1_Missense_Mutation_p.G335L|FYB_ENST00000512982.1_Missense_Mutation_p.G335L|FYB_ENST00000540520.1_Missense_Mutation_p.G345L|FYB_ENST00000505428.1_Missense_Mutation_p.G335L	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	335					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ATTCTTGTCTCCCTTTTCCTTT	0.554																																						uc003jls.2		NA																	0				ovary(2)	2						c.(1003-1005)GGA>CTA		FYN binding protein (FYB-120/130) isoform 2																																				SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39202059_39202060CC>AG	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1003_1004delinsAG	5.37:g.39202059_39202060delinsAG	ENSP00000316460:p.Gly335Leu					FYB_uc003jlt.2_Missense_Mutation_p.G335L|FYB_uc003jlu.2_Missense_Mutation_p.G335L|FYB_uc011cpl.1_Missense_Mutation_p.G345L	p.G335L	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		1	1070_1071	-	all_lung(31;0.000343)		335					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	DNP	ENST00000351578.6	37	c.1003_1004GG>CT	CCDS47200.1																																																																																				0.554	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		8	95	0	0	0	0	8	95				
C7	730	broad.mit.edu	37	5	40958326	40958326	+	Silent	SNP	G	G	A	rs373200862		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:40958326G>A	ENST00000313164.9	+	11	1811	c.1452G>A	c.(1450-1452)gcG>gcA	p.A484A		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	484	EGF-like.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.A484A(1)					Ovarian(839;0.0112)				CATTTGGTGCGGCGTGTGAGC	0.502																																						uc003jmh.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)		0						c.(1450-1452)GCG>GCA		complement component 7 precursor							122.0	121.0	121.0					5																	40958326		2019	4177	6196	SO:0001819	synonymous_variant	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40958326G>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1452G>A	5.37:g.40958326G>A						C7_uc011cpn.1_RNA	p.A484A	NM_000587	NP_000578	P10643	CO7_HUMAN			11	1566	+		Ovarian(839;0.0112)	484			EGF-like.		Q6P3T5|Q92489	Silent	SNP	ENST00000313164.9	37	c.1452G>A	CCDS47201.1																																																																																				0.502	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			17	126	0	0	0	0	17	126				
FTMT	94033	broad.mit.edu	37	5	121187858	121187858	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:121187858G>A	ENST00000321339.1	+	1	209	c.200G>A	c.(199-201)cGg>cAg	p.R67Q		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	67					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)	p.R67Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGCCCCTCTCGGGTGCGCCAG	0.711																																						uc003kss.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(199-201)CGG>CAG		ferritin mitochondrial precursor							32.0	30.0	31.0					5																	121187858		2203	4300	6503	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187858G>A	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.200G>A	5.37:g.121187858G>A	ENSP00000313691:p.Arg67Gln						p.R67Q	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	209	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	67						Missense_Mutation	SNP	ENST00000321339.1	37	c.200G>A	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	8.417	0.845456	0.16963	.	.	ENSG00000181867	ENST00000321339	T	0.66099	-0.19	3.47	0.639	0.17747	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);	0.151277	0.44902	D	0.000418	T	0.32645	0.0836	N	0.19112	0.55	0.29217	N	0.874212	B	0.13145	0.007	B	0.04013	0.001	T	0.22382	-1.0218	10	0.02654	T	1	.	2.8789	0.05640	0.3311:0.0:0.4707:0.1982	.	67	Q8N4E7	FTMT_HUMAN	Q	67	ENSP00000313691:R67Q	ENSP00000313691:R67Q	R	+	2	0	FTMT	121215757	1.000000	0.71417	0.019000	0.16419	0.593000	0.36681	3.795000	0.55499	0.110000	0.17919	0.655000	0.94253	CGG		0.711	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		7	40	0	0	0	0	7	40				
PCDHGA3	56112	broad.mit.edu	37	5	140723931	140723931	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:140723931G>A	ENST00000253812.6	+	1	331	c.331G>A	c.(331-333)Gag>Aag	p.E111K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	111	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTCTGGTTGAGGATAAATT	0.403																																						uc003ljm.1		NA																	0				breast(1)	1						c.(331-333)GAG>AAG		protocadherin gamma subfamily A, 3 isoform 1							26.0	29.0	28.0					5																	140723931		1952	4193	6145	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140723931G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.331G>A	5.37:g.140723931G>A	ENSP00000253812:p.Glu111Lys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA3_uc011dap.1_Missense_Mutation_p.E111K	p.E111K	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	331	+			111			Cadherin 1.|Extracellular (Potential).		Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.331G>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	23.5	4.418454	0.83559	.	.	ENSG00000254245	ENST00000253812	T	0.33654	1.4	5.65	5.65	0.86999	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.33419	U	0.004927	T	0.70263	0.3204	M	0.92923	3.36	0.31065	N	0.713649	D;P	0.76494	0.999;0.942	D;D	0.71414	0.973;0.946	T	0.76176	-0.3055	10	0.72032	D	0.01	.	19.7068	0.96076	0.0:0.0:1.0:0.0	.	111;111	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	K	111	ENSP00000253812:E111K	ENSP00000253812:E111K	E	+	1	0	PCDHGA3	140704115	1.000000	0.71417	0.991000	0.47740	0.864000	0.49448	3.810000	0.55613	2.824000	0.97209	0.655000	0.94253	GAG		0.403	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		17	40	0	0	0	0	17	40				
FAT2	2196	broad.mit.edu	37	5	150946563	150946563	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:150946563C>T	ENST00000261800.5	-	1	1942	c.1930G>A	c.(1930-1932)Gat>Aat	p.D644N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	644	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D644N(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTTTGCCATCTGAGGCTGTA	0.418																																						uc003lue.3		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(1930-1932)GAT>AAT		FAT tumor suppressor 2 precursor							96.0	96.0	96.0					5																	150946563		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150946563C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1930G>A	5.37:g.150946563C>T	ENSP00000261800:p.Asp644Asn					GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.D644N	p.D644N	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1943	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	644			Extracellular (Potential).|Cadherin 5.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.1930G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548691	0.86127	.	.	ENSG00000086570	ENST00000261800	T	0.65364	-0.15	5.78	5.78	0.91487	Cadherin (5);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.81602	0.4857	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81304	-0.0993	10	0.54805	T	0.06	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	644	Q9NYQ8	FAT2_HUMAN	N	644	ENSP00000261800:D644N	ENSP00000261800:D644N	D	-	1	0	FAT2	150926756	1.000000	0.71417	0.967000	0.41034	0.883000	0.51084	7.713000	0.84693	2.894000	0.99253	0.655000	0.94253	GAT		0.418	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		36	115	0	0	0	0	36	115				
MAPK9	5601	broad.mit.edu	37	5	179688706	179688706	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:179688706T>A	ENST00000452135.2	-	5	726	c.428A>T	c.(427-429)cAt>cTt	p.H143L	MAPK9_ENST00000539014.1_Missense_Mutation_p.H143L|MAPK9_ENST00000393360.3_Missense_Mutation_p.H143L|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000343111.6_Missense_Mutation_p.H143L|MAPK9_ENST00000425491.2_Missense_Mutation_p.H143L|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000455781.1_Missense_Mutation_p.H143L|MAPK9_ENST00000347470.4_Missense_Mutation_p.H143L			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	143	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)	p.H143L(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCAGCTGAATGCAGATGTTT	0.308																																						uc003mls.3		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4						c.(427-429)CAT>CTT		mitogen-activated protein kinase 9 isoform JNK2							88.0	88.0	88.0					5																	179688706		2203	4300	6503	SO:0001583	missense	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding	g.chr5:179688706T>A	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.428A>T	5.37:g.179688706T>A	ENSP00000394560:p.His143Leu					MAPK9_uc003mlt.3_Missense_Mutation_p.H143L|MAPK9_uc010jlc.2_Missense_Mutation_p.H143L|MAPK9_uc003mlv.3_Missense_Mutation_p.H143L|MAPK9_uc011dgx.1_Missense_Mutation_p.H143L	p.H143L	NM_002752	NP_002743	P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	699	-	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	143			Protein kinase.		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	c.428A>T	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.660033	0.88154	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014	D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.24	5.24	0.73138	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95626	0.8578	H	0.98738	4.315	0.80722	D	1	D;D;D;D;D	0.89917	0.997;0.997;0.999;0.997;1.0	D;D;D;D;D	0.81914	0.967;0.967;0.981;0.981;0.995	D	0.97518	1.0071	10	0.87932	D	0	-24.4024	15.143	0.72626	0.0:0.0:0.0:1.0	.	143;143;143;143;143	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	L	143	ENSP00000394560:H143L;ENSP00000377028:H143L;ENSP00000389338:H143L;ENSP00000345524:H143L;ENSP00000321410:H143L;ENSP00000397422:H143L;ENSP00000443149:H143L	ENSP00000345524:H143L	H	-	2	0	MAPK9	179621312	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.930000	0.87610	1.977000	0.57605	0.379000	0.24179	CAT		0.308	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			31	97	0	0	0	0	31	97				
COL12A1	1303	broad.mit.edu	37	6	75829169	75829169	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr6:75829169G>A	ENST00000322507.8	-	45	7416	c.7107C>T	c.(7105-7107)agC>agT	p.S2369S	COL12A1_ENST00000345356.6_Silent_p.S1205S|COL12A1_ENST00000483888.2_Silent_p.S2369S|COL12A1_ENST00000416123.2_Silent_p.S2369S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2369	VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.S2369S(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGACCTCATCGCTGTATTGCA	0.433																																						uc003phs.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(7105-7107)AGC>AGT		collagen, type XII, alpha 1 long isoform							116.0	108.0	111.0					6																	75829169		1916	4125	6041	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75829169G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7107C>T	6.37:g.75829169G>A						COL12A1_uc003pht.2_Silent_p.S1205S	p.S2369S	NM_004370	NP_004361	Q99715	COCA1_HUMAN			45	7273	-			2369			VWFA 4.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.7107C>T	CCDS43482.1																																																																																				0.433	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		39	136	0	0	0	0	39	136				
TXLNB	167838	broad.mit.edu	37	6	139563752	139563752	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr6:139563752G>A	ENST00000358430.3	-	10	2198	c.1966C>T	c.(1966-1968)Cga>Tga	p.R656*	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	656						cytoplasm (GO:0005737)		p.R656*(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GCTGCTGCTCGTGGGGGCTGC	0.642																																						uc011eds.1		NA																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)	large_intestine(1)|ovary(1)	2						c.(1966-1968)CGA>TGA		taxilin beta							49.0	55.0	53.0					6																	139563752		2203	4300	6503	SO:0001587	stop_gained	167838					cytoplasm		g.chr6:139563752G>A		CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.1966C>T	6.37:g.139563752G>A	ENSP00000351206:p.Arg656*						p.R656*	NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)	10	2131	-			656					Q5VTF3|Q76L25|Q86T52|Q8N3S2	Nonsense_Mutation	SNP	ENST00000358430.3	37	c.1966C>T	CCDS34545.1	.	.	.	.	.	.	.	.	.	.	G	37	6.362479	0.97507	.	.	ENSG00000164440	ENST00000358430	.	.	.	5.91	0.768	0.18487	.	0.432357	0.18762	N	0.131865	.	.	.	.	.	.	0.47341	D	0.999396	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.5532	5.2479	0.15506	0.0774:0.4117:0.3697:0.1413	.	.	.	.	X	656	.	.	R	-	1	2	TXLNB	139605445	0.002000	0.14202	0.001000	0.08648	0.017000	0.09413	0.051000	0.14141	0.111000	0.17947	-0.176000	0.13171	CGA		0.642	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042458.1	NM_153235		47	93	0	0	0	0	47	93				
THBS2	7058	broad.mit.edu	37	6	169632834	169632834	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr6:169632834G>A	ENST00000366787.3	-	13	2106	c.1857C>T	c.(1855-1857)tgC>tgT	p.C619C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	619					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.C619C(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GGCAGGGCAGGCAGTGGAAGC	0.637																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(5)	5						c.(1855-1857)TGC>TGT		thrombospondin 2 precursor							71.0	68.0	69.0					6																	169632834		2203	4300	6503	SO:0001819	synonymous_variant	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169632834G>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1857C>T	6.37:g.169632834G>A							p.C619C	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	13	2105	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	619			EGF-like 2; calcium-binding (Potential).		A6H8N1|A7E232|Q5RI52	Silent	SNP	ENST00000366787.3	37	c.1857C>T	CCDS34574.1																																																																																				0.637	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		12	45	0	0	0	0	12	45				
RBAK	57786	broad.mit.edu	37	7	5105050	5105050	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr7:5105050G>A	ENST00000353796.3	+	6	2287	c.1963G>A	c.(1963-1965)Gaa>Aaa	p.E655K	RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000396912.1_Missense_Mutation_p.E655K|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_001204456.1	NP_001191385.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	655	Interaction with AR.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.E655K(1)		NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TGAATGTAATGAATGTGGGAA	0.398																																						uc010kss.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(3)|kidney(1)|skin(1)	5						c.(1963-1965)GAA>AAA		RB-associated KRAB repressor							111.0	119.0	116.0					7																	5105050		2203	4300	6503	SO:0001583	missense	57786				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr7:5105050G>A	AF226869	CCDS5337.1	7p22.1	2013-01-08			ENSG00000146587	ENSG00000146587		"""Zinc fingers, C2H2-type"", ""-"""	17680	protein-coding gene	gene with protein product		608191					Standard	NM_021163		Approved	ZNF769	uc003sns.1	Q9NYW8	OTTHUMG00000121155	ENST00000353796.3:c.1963G>A	7.37:g.5105050G>A	ENSP00000275423:p.Glu655Lys					LOC389458_uc003snr.2_Intron|RBAK_uc003sns.1_Missense_Mutation_p.E655K	p.E655K	NM_021163	NP_066986	Q9NYW8	RBAK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)	6	2287	+		Ovarian(82;0.0175)	655			C2H2-type 15.|Interaction with AR.		A6NDF2|A8KAK4|B2RN44|B9EGS1|F8W6M7	Missense_Mutation	SNP	ENST00000353796.3	37	c.1963G>A	CCDS5337.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462052	0.43736	.	.	ENSG00000146587	ENST00000353796;ENST00000396912	T;T	0.16597	2.33;2.33	3.81	2.93	0.34026	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.132904	0.34603	N	0.003835	T	0.20577	0.0495	L	0.39514	1.22	0.35308	D	0.783644	D	0.55172	0.97	P	0.52957	0.714	T	0.22871	-1.0204	8	.	.	.	.	9.6643	0.39974	0.1071:0.0:0.8929:0.0	.	655	Q9NYW8	RBAK_HUMAN	K	655	ENSP00000275423:E655K;ENSP00000380120:E655K	.	E	+	1	0	RBAK	5071576	0.003000	0.15002	0.996000	0.52242	0.994000	0.84299	1.250000	0.32850	1.185000	0.42971	-0.142000	0.14014	GAA		0.398	RBAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241640.2	NM_021163		44	191	0	0	0	0	44	191				
HDAC9	9734	broad.mit.edu	37	7	18767227	18767227	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr7:18767227C>T	ENST00000432645.2	+	12	1747	c.1747C>T	c.(1747-1749)Cgt>Tgt	p.R583C	HDAC9_ENST00000401921.1_Missense_Mutation_p.R542C|HDAC9_ENST00000441542.2_Missense_Mutation_p.R586C|HDAC9_ENST00000406451.4_Missense_Mutation_p.R583C	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	583					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CACGCACACACGTGCGCTCTC	0.547																																						uc003suh.2		NA																	0				lung(2)|central_nervous_system(2)|kidney(1)	5						c.(1747-1749)CGT>TGT		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						35.0	39.0	38.0					7																	18767227		2028	4174	6202	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18767227C>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1747C>T	7.37:g.18767227C>T	ENSP00000410337:p.Arg583Cys					HDAC9_uc003sue.2_Missense_Mutation_p.R583C|HDAC9_uc011jyd.1_Missense_Mutation_p.R583C|HDAC9_uc003sui.2_Missense_Mutation_p.R586C|HDAC9_uc003suj.2_Missense_Mutation_p.R542C|HDAC9_uc003sua.1_Missense_Mutation_p.R561C|HDAC9_uc010kue.1_Missense_Mutation_p.R238C	p.R583C	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			12	1788	+	all_lung(11;0.187)		583					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.1747C>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593489	0.46214	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.27	3.47	0.39725	.	0.829789	0.10350	N	0.685252	T	0.52338	0.1728	L	0.47716	1.5	0.80722	D	1	B;B;B;B;B;B;D	0.59357	0.003;0.0;0.003;0.003;0.002;0.003;0.985	B;B;B;B;B;B;B	0.41764	0.001;0.0;0.001;0.001;0.0;0.001;0.366	T	0.49322	-0.8952	10	0.54805	T	0.06	-22.7845	12.1369	0.53977	0.0:0.8638:0.0:0.1362	.	583;495;542;586;583;583;561	Q9UKV0-4;Q9UKV0-2;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;.;HDAC9_HUMAN;.;.	C	583;542;583;586;495	ENSP00000384657:R583C;ENSP00000383912:R542C;ENSP00000410337:R583C;ENSP00000408617:R586C	ENSP00000339165:R495C	R	+	1	0	HDAC9	18733752	0.998000	0.40836	0.927000	0.36925	0.432000	0.31715	1.726000	0.38085	0.721000	0.32231	0.557000	0.71058	CGT		0.547	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			9	17	0	0	0	0	9	17				
COL1A2	1278	broad.mit.edu	37	7	94052391	94052391	+	Silent	SNP	C	C	T	rs41317725		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr7:94052391C>T	ENST00000297268.6	+	40	2997	c.2526C>T	c.(2524-2526)ttC>ttT	p.F842F		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	842			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.F842F(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCCTGGCTTCGCTGGTGAGA	0.532										HNSCC(75;0.22)																												uc003ung.1		NA																COL1A2/PLAG1(3)	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(2524-2526)TTC>TTT		alpha 2 type I collagen precursor	Collagenase(DB00048)	C		0,4406		0,0,2203	131.0	123.0	126.0		2526	0.2	0.9	7	dbSNP_127	126	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	COL1A2	NM_000089.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		842/1367	94052391	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94052391C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2526C>T	7.37:g.94052391C>T		HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	p.F842F	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		40	2997	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		842		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.2526C>T	CCDS34682.1																																																																																				0.532	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		33	175	0	0	0	0	33	175				
PPP1R3A	5506	broad.mit.edu	37	7	113558424	113558424	+	Missense_Mutation	SNP	G	G	A	rs141223649	byFrequency	TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr7:113558424G>A	ENST00000284601.3	-	1	696	c.628C>T	c.(628-630)Cgt>Tgt	p.R210C		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	210	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.R210C(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTTTCATAACGTATACAAAAC	0.348													G|||	5	0.000998403	0.0038	0.0	5008	,	,		17567	0.0		0.0	False		,,,				2504	0.0					uc010ljy.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(628-630)CGT>TGT		protein phosphatase 1, regulatory (inhibitor)		G	CYS/ARG	24,4382	30.8+/-60.4	0,24,2179	113.0	109.0	110.0		628	6.1	1.0	7	dbSNP_134	110	0,8596		0,0,4298	yes	missense	PPP1R3A	NM_002711.3	180	0,24,6477	AA,AG,GG		0.0,0.5447,0.1846	probably-damaging	210/1123	113558424	24,12978	2203	4298	6501	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113558424G>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.628C>T	7.37:g.113558424G>A	ENSP00000284601:p.Arg210Cys						p.R210C	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			1	659	-			210			CBM21.		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.628C>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940143	0.52972	0.005447	0.0	ENSG00000154415	ENST00000284601	T	0.65178	-0.14	6.08	6.08	0.98989	Putative phosphatase regulatory subunit (2);	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	L	0.39514	1.22	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	T	0.64351	-0.6428	10	0.37606	T	0.19	.	13.8168	0.63297	0.0695:0.0:0.9305:0.0	.	210	Q16821	PPR3A_HUMAN	C	210	ENSP00000284601:R210C	ENSP00000284601:R210C	R	-	1	0	PPP1R3A	113345660	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.210000	0.58500	2.894000	0.99253	0.591000	0.81541	CGT		0.348	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		26	140	0	0	0	0	26	140				
PTPRZ1	5803	broad.mit.edu	37	7	121676716	121676716	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr7:121676716A>G	ENST00000393386.2	+	18	5758	c.5347A>G	c.(5347-5349)Atc>Gtc	p.I1783V	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I916V	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1783	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.I1783V(1)|p.N1783D(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GACTGATTATATCAATGCCAA	0.303																																						uc003vjy.2		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(5347-5349)ATC>GTC		protein tyrosine phosphatase, receptor-type,							106.0	102.0	103.0					7																	121676716		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121676716A>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.5347A>G	7.37:g.121676716A>G	ENSP00000377047:p.Ile1783Val					PTPRZ1_uc003vjz.2_Missense_Mutation_p.I916V|PTPRZ1_uc011knt.1_Missense_Mutation_p.I373V	p.I1783V	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			18	5742	+			1783			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.5347A>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.395846	0.83011	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	D;D	0.89617	-2.54;-2.54	5.5	5.5	0.81552	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.64402	D	0.000006	D	0.94473	0.8221	M	0.81341	2.54	0.80722	D	1	D;P;D	0.64830	0.989;0.467;0.994	D;P;D	0.83275	0.987;0.797;0.996	D	0.95003	0.8145	10	0.66056	D	0.02	.	15.6005	0.76620	1.0:0.0:0.0:0.0	.	922;916;1783	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	V	1783;916	ENSP00000377047:I1783V;ENSP00000410000:I916V	ENSP00000377047:I1783V	I	+	1	0	PTPRZ1	121463952	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.962000	0.93254	2.084000	0.62774	0.528000	0.53228	ATC		0.303	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		23	65	0	0	0	0	23	65				
GRM8	2918	broad.mit.edu	37	7	126410117	126410117	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr7:126410117G>A	ENST00000339582.2	-	7	1967	c.1159C>T	c.(1159-1161)Ctg>Ttg	p.L387L	GRM8_ENST00000358373.3_Silent_p.L387L|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Silent_p.L387L|GRM8_ENST00000444921.2_Silent_p.L387L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	387					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.L387M(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				ATTCGCTCCAGCCCTGCAAAA	0.378										HNSCC(24;0.065)																												uc003vlr.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1159-1161)CTG>TTG		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						48.0	43.0	45.0					7																	126410117		2203	4300	6503	SO:0001819	synonymous_variant	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126410117G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1159C>T	7.37:g.126410117G>A		HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.L387L|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Silent_p.L108L	p.L387L	NM_000845	NP_000836	O00222	GRM8_HUMAN			6	1470	-		Prostate(267;0.186)	387			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.1159C>T	CCDS5794.1																																																																																				0.378	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			19	39	0	0	0	0	19	39				
ESYT2	57488	broad.mit.edu	37	7	158560437	158560437	+	Missense_Mutation	SNP	T	T	C	rs535480730		TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr7:158560437T>C	ENST00000251527.5	-	8	1041	c.976A>G	c.(976-978)Ata>Gta	p.I326V		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	354	Glycerophospholipid-binding barrel-like domain.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)	p.I326V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TTTGATATTATATCCAAAATG	0.408																																						uc003wob.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|kidney(1)	3						c.(976-978)ATA>GTA		family with sequence similarity 62 (C2 domain							89.0	84.0	85.0					7																	158560437		2203	4300	6503	SO:0001583	missense	57488					integral to membrane|plasma membrane		g.chr7:158560437T>C	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.976A>G	7.37:g.158560437T>C	ENSP00000251527:p.Ile326Val					ESYT2_uc003woc.1_Missense_Mutation_p.I150V|ESYT2_uc003wod.1_Missense_Mutation_p.I326V	p.I326V	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN			8	1042	-			354					A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	c.976A>G	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	T	12.26	1.883611	0.33255	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000429474	T;T	0.19669	2.13;2.13	4.6	4.6	0.57074	.	0.085760	0.85682	D	0.000000	T	0.28863	0.0716	L	0.39633	1.23	0.80722	D	1	D;D	0.62365	0.991;0.982	P;P	0.59643	0.861;0.768	T	0.03008	-1.1083	10	0.10377	T	0.69	-22.7347	13.4824	0.61342	0.0:0.0:0.0:1.0	.	354;326	A0FGR8-6;A0FGR8-2	.;.	V	326;354;296;150	ENSP00000251527:I326V;ENSP00000275418:I296V	ENSP00000251527:I326V	I	-	1	0	ESYT2	158253198	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.103000	0.50298	1.839000	0.53478	0.533000	0.62120	ATA		0.408	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		11	78	0	0	0	0	11	78				
HR	55806	broad.mit.edu	37	8	21976686	21976686	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr8:21976686C>T	ENST00000381418.4	-	15	4568	c.3088G>A	c.(3088-3090)Gca>Aca	p.A1030T	HR_ENST00000312841.8_Missense_Mutation_p.A1030T	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	1030	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCTTTCTGTGCCCGGTGCCAG	0.652																																						uc003xas.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(3088-3090)GCA>ACA		hairless protein isoform a							57.0	54.0	55.0					8																	21976686		2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21976686C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.3088G>A	8.37:g.21976686C>T	ENSP00000370826:p.Ala1030Thr					HR_uc003xat.2_Missense_Mutation_p.A1030T	p.A1030T	NM_005144	NP_005135	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	15	3753	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	1030			JmjC.		Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.3088G>A	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247382	0.22880	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.72167	-0.63;-0.63	5.07	2.1	0.27182	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.479877	0.19242	N	0.119135	T	0.54515	0.1863	L	0.36672	1.1	0.24902	N	0.992097	B;B	0.09022	0.002;0.002	B;B	0.15052	0.012;0.012	T	0.35699	-0.9778	10	0.21014	T	0.42	0.1376	6.7499	0.23482	0.0:0.5618:0.339:0.0992	.	1030;1030	O43593-2;O43593	.;HAIR_HUMAN	T	1030	ENSP00000370826:A1030T;ENSP00000326765:A1030T	ENSP00000326765:A1030T	A	-	1	0	HR	22032631	0.891000	0.30450	0.975000	0.42487	0.084000	0.17831	0.287000	0.18920	0.113000	0.18004	0.313000	0.20887	GCA		0.652	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			3	64	0	0	0	0	3	64				
C8orf34	116328	broad.mit.edu	37	8	69621297	69621297	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr8:69621297A>T	ENST00000539993.1	+	9	1601	c.1052A>T	c.(1051-1053)aAa>aTa	p.K351I	C8orf34_ENST00000518698.1_Missense_Mutation_p.K437I|C8orf34_ENST00000337103.4_Missense_Mutation_p.K326I|C8orf34_ENST00000325233.3_Missense_Mutation_p.K95I			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	351										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CCAGATGAAAAAATCCCAGAT	0.328																																						uc010lyz.2		NA																	0				large_intestine(1)	1						c.(1051-1053)AAA>ATA		hypothetical protein LOC116328							72.0	69.0	70.0					8																	69621297		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69621297A>T	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.1052A>T	8.37:g.69621297A>T	ENSP00000438159:p.Lys351Ile					C8orf34_uc003xyb.2_Missense_Mutation_p.K326I	p.K351I	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		9	1101	+			351					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.1052A>T		.	.	.	.	.	.	.	.	.	.	A	6.834	0.523127	0.13066	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000337103;ENST00000325233	T;T;T;T	0.44083	0.97;1.05;1.05;0.93	5.31	0.0477	0.14281	.	0.720483	0.13707	N	0.368411	T	0.17109	0.0411	N	0.08118	0	0.21861	N	0.999502	B	0.02656	0.0	B	0.01281	0.0	T	0.20042	-1.0287	9	.	.	.	-1.1357	3.8738	0.09048	0.1641:0.3001:0.0:0.5358	.	351	Q49A92	CH034_HUMAN	I	437;351;326;95	ENSP00000427820:K437I;ENSP00000438159:K351I;ENSP00000337174:K326I;ENSP00000319532:K95I	.	K	+	2	0	C8orf34	69783851	0.821000	0.29204	0.960000	0.40013	0.626000	0.37791	0.002000	0.13061	0.064000	0.16427	-1.001000	0.02504	AAA		0.328	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		28	64	0	0	0	0	28	64				
ZFHX4	79776	broad.mit.edu	37	8	77616422	77616422	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr8:77616422G>C	ENST00000521891.2	+	2	547	c.99G>C	c.(97-99)gaG>gaC	p.E33D	ZFHX4_ENST00000050961.6_Missense_Mutation_p.E33D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E33D|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E33D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	33					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGTGCCAGAGAAAGTTGCAG	0.502										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(97-99)GAG>GAC		zinc finger homeodomain 4							61.0	64.0	63.0					8																	77616422		2008	4197	6205	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616422G>C		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.99G>C	8.37:g.77616422G>C	ENSP00000430497:p.Glu33Asp	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.E33D|ZFHX4_uc003yau.1_Missense_Mutation_p.E33D|ZFHX4_uc003yaw.1_Missense_Mutation_p.E33D	p.E33D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	486	+			33					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.99G>C	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	1.483	-0.556765	0.03967	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000523885;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32	5.53	5.53	0.82687	.	0.000000	0.44902	U	0.000406	T	0.40619	0.1124	N	0.12182	0.205	0.51482	D	0.999925	D;D;D;P	0.71674	0.997;0.998;0.998;0.885	D;D;D;P	0.77557	0.978;0.99;0.99;0.496	T	0.10613	-1.0622	10	0.07990	T	0.79	.	19.6556	0.95837	0.0:0.0:1.0:0.0	.	33;33;33;33	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	D	33	ENSP00000430497:E33D;ENSP00000399605:E33D;ENSP00000050961:E33D;ENSP00000428525:E33D;ENSP00000429495:E33D;ENSP00000427775:E33D;ENSP00000427739:E33D;ENSP00000430848:E33D	ENSP00000050961:E33D	E	+	3	2	ZFHX4	77778977	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.304000	0.65744	2.882000	0.98803	0.655000	0.94253	GAG		0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		16	70	0	0	0	0	16	70				
C8orf31	286122	broad.mit.edu	37	8	144130635	144130635	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr8:144130635G>A	ENST00000395172.1	+	5	717	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	C8orf31_ENST00000517653.1_3'UTR	NM_173687.2	NP_775958.1	Q8N9H6	CH031_HUMAN	chromosome 8 open reading frame 31	122										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ggattctctcggcaccacggg	0.512																																						uc003yxp.1		NA																	0				ovary(1)	1						c.(364-366)CGG>CAG		hypothetical protein LOC286122							169.0	134.0	146.0					8																	144130635		2203	4300	6503	SO:0001583	missense	286122							g.chr8:144130635G>A		CCDS6395.1	8q24.3	2012-04-11			ENSG00000177335	ENSG00000177335			26731	protein-coding gene	gene with protein product							Standard	NM_173687		Approved	FLJ37131	uc003yxp.1	Q8N9H6	OTTHUMG00000164771	ENST00000395172.1:c.365G>A	8.37:g.144130635G>A	ENSP00000378601:p.Arg122Gln					C8orf31_uc003yxq.1_RNA|C8orf31_uc003yxr.1_RNA	p.R122Q	NM_173687	NP_775958	Q8N9H6	CH031_HUMAN			5	717	+	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		122					Q6GMU7	Missense_Mutation	SNP	ENST00000395172.1	37	c.365G>A	CCDS6395.1	.	.	.	.	.	.	.	.	.	.	g	3.373	-0.127985	0.06753	.	.	ENSG00000177335	ENST00000395172	T	0.55930	0.49	0.113	0.113	0.14631	.	.	.	.	.	T	0.31104	0.0786	N	0.08118	0	0.09310	N	1	P	0.47302	0.893	B	0.43360	0.417	T	0.17623	-1.0363	8	0.87932	D	0	.	.	.	.	.	122	Q8N9H6	CH031_HUMAN	Q	122	ENSP00000378601:R122Q	ENSP00000378601:R122Q	R	+	2	0	C8orf31	144202010	0.014000	0.17966	0.017000	0.16124	0.017000	0.09413	0.217000	0.17603	0.183000	0.20059	0.186000	0.17326	CGG		0.512	C8orf31-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380167.1	NM_173687		19	130	0	0	0	0	19	130				
EPPK1	83481	broad.mit.edu	37	8	144940258	144940258	+	Silent	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr8:144940258G>A	ENST00000525985.1	-	2	7235	c.7164C>T	c.(7162-7164)gaC>gaT	p.D2388D				P58107	EPIPL_HUMAN	epiplakin 1	2388						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCGTGTTGGGGTCGAAGAAGC	0.632																																						uc003zaa.1		NA																	0				pancreas(1)|skin(1)	2						c.(15172-15174)GAC>GAT		epiplakin 1							241.0	229.0	233.0					8																	144940258		2186	4271	6457	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940258G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7164C>T	8.37:g.144940258G>A							p.D5058D	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	15187	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		5058			Plectin 65.		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.15174C>T																																																																																					0.632	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		19	527	0	0	0	0	19	527				
HAUS6	54801	broad.mit.edu	37	9	19058811	19058811	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr9:19058811G>T	ENST00000380502.3	-	16	2421	c.1954C>A	c.(1954-1956)Cat>Aat	p.H652N	HAUS6_ENST00000380496.1_Missense_Mutation_p.H516N	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	652					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCAGTCAAATGAGACTGGCCA	0.398																																						uc003znk.2		NA																	0				ovary(2)	2						c.(1954-1956)CAT>AAT		HAUS augmin-like complex, subunit 6							102.0	97.0	99.0					9																	19058811		2203	4300	6503	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19058811G>T	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.1954C>A	9.37:g.19058811G>T	ENSP00000369871:p.His652Asn					HAUS6_uc011lmz.1_Missense_Mutation_p.H372N|HAUS6_uc003znl.1_Missense_Mutation_p.H516N	p.H652N	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN			16	2207	-			652					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.1954C>A	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	G	1.860	-0.462794	0.04476	.	.	ENSG00000147874	ENST00000380502;ENST00000380496;ENST00000415524	T;T;T	0.45276	1.95;1.95;0.9	5.06	0.849	0.18972	.	0.742509	0.12686	N	0.447595	T	0.34861	0.0912	M	0.63428	1.95	0.09310	N	1	P;P;P	0.47604	0.898;0.531;0.898	B;B;B	0.41036	0.187;0.346;0.271	T	0.16897	-1.0387	10	0.30854	T	0.27	-5.3443	5.6281	0.17495	0.2396:0.2562:0.5042:0.0	.	617;516;652	Q7Z4H7-3;Q5VY60;Q7Z4H7	.;.;HAUS6_HUMAN	N	652;516;168	ENSP00000369871:H652N;ENSP00000369865:H516N;ENSP00000409615:H168N	ENSP00000369865:H516N	H	-	1	0	HAUS6	19048811	0.006000	0.16342	0.991000	0.47740	0.038000	0.13279	0.374000	0.20501	0.611000	0.30052	0.467000	0.42956	CAT		0.398	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1	NM_017645		47	113	1	0	4.01e-20	4.64e-20	47	113				
SPATA31C1	441452	broad.mit.edu	37	9	90535829	90535829	+	RNA	SNP	G	G	A	rs144903965	byFrequency	TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr9:90535829G>A	ENST00000602681.1	+	0	1733							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCCCATCTGGGGCCTGAGTCC	0.567													.|||	13	0.00259585	0.0015	0.0014	5008	,	,		19510	0.0089		0.0	False		,,,				2504	0.001					uc010mqi.2		NA																	0					0						c.(1006-1008)GGG>GAG		family with sequence similarity 75, member C1							72.0	69.0	70.0					9																	90535829		692	1590	2282			441452							g.chr9:90535829G>A	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535829G>A						FAM75C1_uc004apq.3_Missense_Mutation_p.G319E	p.G336E	NM_001145124	NP_001138596					4	1036	+									Missense_Mutation	SNP	ENST00000602681.1	37	c.1007G>A																																																																																					0.567	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		28	265	0	0	0	0	28	265				
TLR4	7099	broad.mit.edu	37	9	120466838	120466838	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr9:120466838G>A	ENST00000355622.6	+	1	189	c.88G>A	c.(88-90)Gtg>Atg	p.V30M	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_5'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	30					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.V30M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GGAGCCCTGCGTGGAGGTATG	0.542																																						uc004bjz.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(88-90)GTG>ATG		toll-like receptor 4 precursor							59.0	58.0	58.0					9																	120466838		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120466838G>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.88G>A	9.37:g.120466838G>A	ENSP00000363089:p.Val30Met					TLR4_uc004bka.2_Translation_Start_Site|TLR4_uc004bkb.2_Translation_Start_Site	p.V30M	NM_138554	NP_612564	O00206	TLR4_HUMAN			1	379	+			30			Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.88G>A	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568303	0.28003	.	.	ENSG00000136869	ENST00000355622	T	0.38887	1.11	5.79	-0.144	0.13440	.	0.528179	0.17190	N	0.183527	T	0.23054	0.0557	L	0.36672	1.1	0.09310	N	1	B	0.30211	0.273	B	0.19946	0.027	T	0.15694	-1.0428	10	0.59425	D	0.04	.	0.9325	0.01338	0.342:0.1634:0.3453:0.1494	.	30	O00206	TLR4_HUMAN	M	30	ENSP00000363089:V30M	ENSP00000363089:V30M	V	+	1	0	TLR4	119506659	0.001000	0.12720	0.085000	0.20634	0.647000	0.38526	0.206000	0.17375	0.208000	0.20626	-0.262000	0.10625	GTG		0.542	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		21	38	0	0	0	0	21	38				
CNKSR2	22866	broad.mit.edu	37	X	21609140	21609140	+	Splice_Site	SNP	G	G	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chrX:21609140G>T	ENST00000379510.3	+	15	1694	c.1658G>T	c.(1657-1659)gGt>gTt	p.G553V	CNKSR2_ENST00000425654.2_Splice_Site_p.G523V|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000543067.1_Splice_Site_p.G504V|CNKSR2_ENST00000279451.4_Splice_Site_p.G553V	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	553					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.G553V(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CACCCTTTAGGTCCTATAGCA	0.383																																						uc004czx.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	large_intestine(1)|lung(1)	2						c.(1657-1659)GGT>GTT		connector enhancer of kinase suppressor of Ras							115.0	118.0	117.0					X																	21609140		2203	4299	6502	SO:0001630	splice_region_variant	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21609140G>T	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1658-1G>T	X.37:g.21609140G>T						CNKSR2_uc004czw.2_Missense_Mutation_p.G553V|CNKSR2_uc011mjn.1_Missense_Mutation_p.G504V|CNKSR2_uc011mjo.1_Missense_Mutation_p.G523V|CNKSR2_uc004czy.2_Missense_Mutation_p.G145V	p.G553V	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			15	1694	+			553					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.1658G>T	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889858	0.52014	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	5.29	5.29	0.74685	.	0.050314	0.85682	D	0.000000	T	0.26268	0.0641	M	0.67397	2.05	0.58432	D	0.999999	P;B;B;B	0.45715	0.865;0.236;0.138;0.378	P;B;B;B	0.50490	0.642;0.101;0.079;0.221	T	0.00814	-1.1555	9	.	.	.	.	14.6289	0.68643	0.0:0.153:0.847:0.0	.	523;504;145;553	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	V	523;504;553;553	ENSP00000397906:G523V;ENSP00000444633:G504V;ENSP00000279451:G553V;ENSP00000368824:G553V	.	G	+	2	0	CNKSR2	21519061	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	3.836000	0.55813	2.219000	0.72066	0.523000	0.50628	GGT		0.383	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	Missense_Mutation	51	102	1	0	9.16e-17	1.05e-16	51	102				
IL1RAPL1	11141	broad.mit.edu	37	X	29417342	29417342	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chrX:29417342G>T	ENST00000378993.1	+	5	1293	c.620G>T	c.(619-621)aGa>aTa	p.R207I	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R207I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	207	Ig-like C2-type 2.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.R207I(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						AGAGAAGTCAGAGAAGATGAC	0.338																																						uc004dby.2		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	ovary(3)|lung(1)|pancreas(1)	5						c.(619-621)AGA>ATA		interleukin 1 receptor accessory protein-like 1							76.0	74.0	74.0					X																	29417342		2202	4294	6496	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29417342G>T	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.620G>T	X.37:g.29417342G>T	ENSP00000368278:p.Arg207Ile						p.R207I	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			5	1128	+			207			Ig-like C2-type 2.|Extracellular (Potential).		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.620G>T	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790049	0.50102	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.12672	2.66;2.66	5.75	3.97	0.46021	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.103141	0.64402	D	0.000006	T	0.17408	0.0418	M	0.72353	2.195	0.41517	D	0.988378	P	0.41080	0.737	B	0.39738	0.308	T	0.01652	-1.1303	9	.	.	.	.	10.4002	0.44225	0.1622:0.0:0.8378:0.0	.	207	Q9NZN1	IRPL1_HUMAN	I	207	ENSP00000368278:R207I;ENSP00000305200:R207I	.	R	+	2	0	IL1RAPL1	29327263	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.208000	0.65203	0.582000	0.29556	0.523000	0.50628	AGA		0.338	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		28	42	1	0	1.34e-20	1.56e-20	28	42				
KIAA2022	340533	broad.mit.edu	37	X	73962241	73962241	+	Silent	SNP	G	G	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chrX:73962241G>C	ENST00000055682.6	-	3	2762	c.2151C>G	c.(2149-2151)ctC>ctG	p.L717L		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	717					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGATTTTATTGAGCACTTTCC	0.418																																						uc004eby.2		NA																	0				ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(2149-2151)CTC>CTG		hypothetical protein LOC340533							79.0	76.0	77.0					X																	73962241		2203	4300	6503	SO:0001819	synonymous_variant	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73962241G>C		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.2151C>G	X.37:g.73962241G>C							p.L717L	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	2768	-			717					A7YY87|Q5JUX9|Q8IVE9	Silent	SNP	ENST00000055682.6	37	c.2151C>G	CCDS35337.1																																																																																				0.418	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		4	103	0	0	0	0	4	103				
NRK	203447	broad.mit.edu	37	X	105153047	105153047	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chrX:105153047C>T	ENST00000243300.9	+	13	1717	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	NRK_ENST00000428173.2_Missense_Mutation_p.R473W	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	472	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R473W(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TCCACGACTACGGAGGGCAGC	0.557										HNSCC(51;0.14)																												uc004emd.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(1414-1416)CGG>TGG		Nik related kinase							39.0	40.0	39.0					X																	105153047		2041	4172	6213	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105153047C>T	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1414C>T	X.37:g.105153047C>T	ENSP00000434830:p.Arg472Trp	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.R140W	p.R472W	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			13	1717	+			472			Gln-rich.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.1414C>T		.	.	.	.	.	.	.	.	.	.	C	7.741	0.701375	0.15172	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.24151	1.87;1.87	4.49	0.516	0.17019	.	0.786356	0.11122	N	0.597338	T	0.18002	0.0432	L	0.40543	1.245	0.09310	N	1	B;B	0.10296	0.003;0.0	B;B	0.10450	0.005;0.001	T	0.31024	-0.9958	10	0.72032	D	0.01	.	2.7873	0.05377	0.4713:0.2885:0.1454:0.0948	.	140;472	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	W	472;473	ENSP00000434830:R472W;ENSP00000438378:R473W	ENSP00000434830:R472W	R	+	1	2	NRK	105039703	0.000000	0.05858	0.002000	0.10522	0.269000	0.26545	0.015000	0.13355	-0.035000	0.13691	0.600000	0.82982	CGG		0.557	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		10	26	0	0	0	0	10	26				
CLDN2	9075	broad.mit.edu	37	X	106171511	106171511	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chrX:106171511T>C	ENST00000541806.1	+	2	572	c.53T>C	c.(52-54)cTt>cCt	p.L18P	CLDN2_ENST00000540876.1_Missense_Mutation_p.L18P|CLDN2_ENST00000336803.1_Missense_Mutation_p.L18P	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	18					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CTTCTGGGGCTTTTGGGCACA	0.562																																						uc004emq.1		NA																	0				ovary(1)	1						c.(52-54)CTT>CCT		claudin 2							81.0	69.0	73.0					X																	106171511		2203	4300	6503	SO:0001583	missense	9075				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chrX:106171511T>C	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.53T>C	X.37:g.106171511T>C	ENSP00000441283:p.Leu18Pro					MORC4_uc004emp.3_Intron|CLDN2_uc004emt.1_Missense_Mutation_p.L18P	p.L18P	NM_020384	NP_065117	P57739	CLD2_HUMAN			2	572	+			18			Helical; (Potential).		B2R6B9	Missense_Mutation	SNP	ENST00000541806.1	37	c.53T>C	CCDS14524.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.236461	0.58886	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.89552	-2.53;-2.53;-2.53	5.61	5.61	0.85477	.	0.298461	0.31199	N	0.008079	D	0.94248	0.8153	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.94757	0.7932	10	0.72032	D	0.01	.	12.5787	0.56378	0.0:0.0:0.0:1.0	.	18	P57739	CLD2_HUMAN	P	18	ENSP00000441283:L18P;ENSP00000443230:L18P;ENSP00000336571:L18P	ENSP00000336571:L18P	L	+	2	0	CLDN2	106058167	0.845000	0.29573	0.388000	0.26195	0.978000	0.69477	5.183000	0.65065	1.877000	0.54381	0.486000	0.48141	CTT		0.562	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1			3	98	0	0	0	0	3	98				
DDX3Y	8653	broad.mit.edu	37	Y	15025642	15025642	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chrY:15025642G>A	ENST00000336079.3	+	7	656	c.550G>A	c.(550-552)Gac>Aac	p.D184N	DDX3Y_ENST00000463199.1_3'UTR|DDX3Y_ENST00000360160.4_Missense_Mutation_p.D184N	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	184						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)	p.D184N(1)		kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						TAGCGATATTGACATGGGAGA	0.348																																						uc004fsu.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(550-552)GAC>AAC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 3,							89.0	87.0	87.0					Y																	15025642		626	1988	2614	SO:0001583	missense	8653					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding	g.chrY:15025642G>A	AF000984	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048		"""DEAD-boxes"""	2699	protein-coding gene	gene with protein product		400010	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"""	DBY		9381176	Standard	NM_004660		Approved		uc004fsv.2	O15523	OTTHUMG00000036324	ENST00000336079.3:c.550G>A	Y.37:g.15025642G>A	ENSP00000336725:p.Asp184Asn					DDX3Y_uc010nwv.1_Missense_Mutation_p.D184N|DDX3Y_uc011naq.1_Missense_Mutation_p.D184N|DDX3Y_uc004fsv.2_Missense_Mutation_p.D184N|DDX3Y_uc010nww.1_5'UTR|DDX3Y_uc011nar.1_Missense_Mutation_p.D181N	p.D184N	NM_001122665	NP_001116137	O15523	DDX3Y_HUMAN			8	859	+			184			Q motif.		B4DK29|B4DXX7|Q8IYV7	Missense_Mutation	SNP	ENST00000336079.3	37	c.550G>A	CCDS14782.1																																																																																				0.348	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088407.1	NM_004660		16	83	0	0	0	0	16	83				
BCAR3	8412	broad.mit.edu	37	1	94033309	94033310	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr1:94033309_94033310insCA	ENST00000370244.1	-	12	2361_2362	c.2073_2074insTG	c.(2071-2076)ctgcatfs	p.H692fs	BCAR3_ENST00000370243.1_Frame_Shift_Ins_p.H692fs|BCAR3_ENST00000260502.6_Frame_Shift_Ins_p.H692fs|BCAR3_ENST00000539242.1_Frame_Shift_Ins_p.H368fs|BCAR3_ENST00000370247.3_Frame_Shift_Ins_p.H601fs	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	692	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CTGCCTTCATGCAGGAGTTTGC	0.535																																						uc001dpz.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(2071-2076)CTGCATfs		breast cancer antiestrogen resistance 3																																				SO:0001589	frameshift_variant	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94033309_94033310insCA	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2072_2073dupTG	1.37:g.94033310_94033311dupCA	ENSP00000359264:p.His692fs					BCAR3_uc001dqa.2_Frame_Shift_Ins_p.L691fs|BCAR3_uc001dqb.2_Frame_Shift_Ins_p.L691fs|BCAR3_uc001dpx.3_Frame_Shift_Ins_p.L367fs|BCAR3_uc001dpy.2_Frame_Shift_Ins_p.L600fs	p.L691fs	NM_003567	NP_003558	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	10	2348_2349	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	691_692			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Frame_Shift_Ins	INS	ENST00000370244.1	37	c.2073_2074insTG	CCDS745.1																																																																																				0.535	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			27	84	NA	NA	NA	NA	27	84	---	---	---	---
PHLPP2	23035	broad.mit.edu	37	16	71710362	71710363	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr16:71710362_71710363insA	ENST00000568954.1	-	9	1836_1837	c.1458_1459insT	c.(1456-1461)tatgccfs	p.A487fs	PHLPP2_ENST00000360429.3_Frame_Shift_Ins_p.A487fs|PHLPP2_ENST00000567016.1_Frame_Shift_Ins_p.A522fs|PHLPP2_ENST00000393524.2_Frame_Shift_Ins_p.A487fs|PHLPP2_ENST00000356272.3_Frame_Shift_Ins_p.A487fs			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	487					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TTGGAACTGGCATAGAGGGTCC	0.5																																						uc002fax.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1456-1461)TATGCCfs		PH domain and leucine rich repeat protein																																				SO:0001589	frameshift_variant	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71710362_71710363insA	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.1459dupT	16.37:g.71710363_71710363dupA	ENSP00000457991:p.Ala487fs					PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Frame_Shift_Ins_p.Y486fs	p.Y486fs	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN			8	1464_1465	-			486_487			LRR 11.		A1L374|Q9NV17|Q9Y2E3	Frame_Shift_Ins	INS	ENST00000568954.1	37	c.1458_1459insT	CCDS32479.1																																																																																				0.500	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		15	58	NA	NA	NA	NA	15	58	---	---	---	---
NPEPPS	9520	broad.mit.edu	37	17	45695767	45695768	+	In_Frame_Ins	INS	-	-	TTG			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr17:45695767_45695768insTTG	ENST00000322157.4	+	20	2584_2585	c.2347_2348insTTG	c.(2347-2349)ctt>cTTGtt	p.783_784insV	NPEPPS_ENST00000530173.1_In_Frame_Ins_p.779_780insV|RP11-580I16.2_ENST00000582066.1_RNA|RP11-580I16.2_ENST00000582389.1_RNA|NPEPPS_ENST00000544660.1_In_Frame_Ins_p.703_704insV	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	783					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						CGAAAGAGTCCTTGGCGCTACT	0.391																																						uc002ilr.3		NA																	0					0						c.(2347-2349)CTT>CTTGTT		aminopeptidase puromycin sensitive																																				SO:0001652	inframe_insertion	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45695767_45695768insTTG	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.2348_2350dupTTG	17.37:g.45695768_45695770dupTTG	ENSP00000320324:p.Leu783_Gly784insVal					NPEPPS_uc010wkt.1_In_Frame_Ins_p.779_780insV|NPEPPS_uc010wku.1_In_Frame_Ins_p.747_748insV|NPEPPS_uc010wkv.1_In_Frame_Ins_p.337_338insV|NPEPPS_uc002ils.1_In_Frame_Ins_p.216_217insV	p.783_784insV	NM_006310	NP_006301	P55786	PSA_HUMAN			20	2570_2571	+			783_784					B7Z463|Q6P145|Q9NP16|Q9UEM2	In_Frame_Ins	INS	ENST00000322157.4	37	c.2347_2348insTTG	CCDS45721.1																																																																																				0.391	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		12	103	NA	NA	NA	NA	12	103	---	---	---	---
FPR2	2358	broad.mit.edu	37	19	52272530	52272531	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr19:52272530_52272531insT	ENST00000598776.1	+	2	1391_1392	c.619_620insT	c.(619-621)gtcfs	p.V207fs	FPR2_ENST00000598953.1_Frame_Shift_Ins_p.V207fs|FPR2_ENST00000340023.6_Frame_Shift_Ins_p.V207fs	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	207					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TATCCGGTTTGTCATTGGCTTT	0.505																																						uc002pxr.2		NA																	0				lung(3)|ovary(1)	4						c.(619-621)GTCfs		formyl peptide receptor-like 1																																				SO:0001589	frameshift_variant	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272530_52272531insT	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.620dupT	19.37:g.52272531_52272531dupT	ENSP00000468897:p.Val207fs					FPR2_uc002pxs.3_Frame_Shift_Ins_p.V207fs|FPR2_uc010epf.2_Frame_Shift_Ins_p.V207fs	p.V207fs	NM_001005738	NP_001005738	P25090	FPR2_HUMAN			2	664_665	+			207			Helical; Name=5; (Potential).		A8K3E2	Frame_Shift_Ins	INS	ENST00000598776.1	37	c.619_620insT	CCDS12840.1																																																																																				0.505	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		37	93	NA	NA	NA	NA	37	93	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141459289	141459289	+	Splice_Site	DEL	C	C	-			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr2:141459289delC	ENST00000389484.3	-	40	7399		c.e40+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAGTGCTGACCTTTCTCTCT	0.348										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.e40+1		low density lipoprotein-related protein 1B							86.0	82.0	83.0					2																	141459289		2203	4299	6502	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141459289delC	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6427+1G>-	2.37:g.141459289delC		TSP Lung(27;0.18)					p.G2143_splice	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	40	7399	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)						Q8WY29|Q8WY30|Q8WY31	Splice_Site	DEL	ENST00000389484.3	37	c.6427_splice	CCDS2182.1																																																																																				0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Intron	7	116	NA	NA	NA	NA	7	116	---	---	---	---
KIF9	64147	broad.mit.edu	37	3	47286984	47287007	+	Splice_Site	DEL	ACTTCCTGTTCCTGTTGGCTTGGG	ACTTCCTGTTCCTGTTGGCTTGGG	-			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr3:47286984_47287007delACTTCCTGTTCCTGTTGGCTTGGG	ENST00000265529.3	-	15	1970_1987	c.1290_1307delCCCAAGCCAACAGGAACAGGAAGT	c.(1288-1308)agcccaagccaacaggaacag>agg	p.430_436SPSQQEQ>R	KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000352910.4_Splice_Site_p.337_343SPSQQEQ>R|KIF9_ENST00000335044.2_Splice_Site_p.430_436SPSQQEQ>R|KIF9_ENST00000452770.2_Splice_Site_p.430_436SPSQQEQ>R|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000444589.2_Splice_Site_p.430_436SPSQQEQ>R			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	430					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGTGGACTCCACTTCCTGTTCCTGTTGGCTTGGGAGACAGCAAG	0.509																																					Colon(44;962 1147 15977 24541)	uc010hjp.2		NA																	0				skin(1)	1						c.e15-1		kinesin family member 9 isoform 2																																				SO:0001630	splice_region_variant	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47286984_47287007delACTTCCTGTTCCTGTTGGCTTGGG	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1290-1CCCAAGCCAACAGGAACAGGAAGT>-	3.37:g.47286984_47287007delACTTCCTGTTCCTGTTGGCTTGGG						KIF9_uc003cqx.2_Splice_Site_p.S430_splice|KIF9_uc003cqy.2_Splice_Site_p.S430_splice|KIF9_uc011bat.1_Splice_Site	p.S430_splice	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	15	1894	-		Acute lymphoblastic leukemia(5;0.164)						Q86Z28|Q9H8A4	Splice_Site	DEL	ENST00000265529.3	37	c.1290_splice	CCDS2752.1																																																																																				0.509	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2		In_Frame_Del	23	129	NA	NA	NA	NA	23	129	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52637575	52637576	+	Frame_Shift_Ins	INS	-	-	TTTC			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr3:52637575_52637576insTTTC	ENST00000296302.7	-	17	2741_2742	c.2740_2741insGAAA	c.(2740-2742)atafs	p.I914fs	PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.I929fs|PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.I914fs|PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.I914fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.I914fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.I929fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.I914fs|PBRM1_ENST00000356770.4_Frame_Shift_Ins_p.I882fs			Q86U86	PB1_HUMAN	polybromo 1	914					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATCTTCCTCTATTTCTTTTGGC	0.332			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2		NA		Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		0				kidney(136)|breast(4)	140						c.(2740-2742)ATAfs		polybromo 1 isoform 4																																				SO:0001589	frameshift_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52637575_52637576insTTTC	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2737_2740dupGAAA	3.37:g.52637576_52637579dupTTTC	ENSP00000296302:p.Ile914fs					PBRM1_uc003dex.2_Intron|PBRM1_uc003deq.2_Frame_Shift_Ins_p.I914fs|PBRM1_uc003der.2_Frame_Shift_Ins_p.I882fs|PBRM1_uc003det.2_Frame_Shift_Ins_p.I929fs|PBRM1_uc003deu.2_Frame_Shift_Ins_p.I929fs|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Frame_Shift_Ins_p.I914fs|PBRM1_uc010hmk.1_Frame_Shift_Ins_p.I914fs|PBRM1_uc003dey.2_Frame_Shift_Ins_p.I914fs|PBRM1_uc003dez.1_Frame_Shift_Ins_p.I914fs|PBRM1_uc003dfb.1_Frame_Shift_Ins_p.I827fs|PBRM1_uc003dfa.1_Frame_Shift_Ins_p.I260fs	p.I914fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	17	2752_2753	-			914					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Ins	INS	ENST00000296302.7	37	c.2740_2741insGAAA																																																																																					0.332	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		8	44	NA	NA	NA	NA	8	44	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187541516	187541516	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr4:187541516delT	ENST00000441802.2	-	10	6433	c.6224delA	c.(6223-6225)aatfs	p.N2075fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2075	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGCATTATCATTTTGGTCTTC	0.498										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(6223-6225)AATfs		FAT tumor suppressor 1 precursor							163.0	156.0	159.0					4																	187541516		1969	4149	6118	SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541516delT	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6224delA	4.37:g.187541516delT	ENSP00000406229:p.Asn2075fs	HNSCC(5;0.00058)					p.N2075fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	6412	-			2075			Extracellular (Potential).|Cadherin 18.			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.6224delA	CCDS47177.1																																																																																				0.498	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		103	212	NA	NA	NA	NA	103	212	---	---	---	---
RASA1	5921	broad.mit.edu	37	5	86674262	86674264	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr5:86674262_86674264delGGA	ENST00000274376.6	+	18	2958_2960	c.2394_2396delGGA	c.(2392-2397)atggag>atg	p.E799del	RASA1_ENST00000456692.2_In_Frame_Del_p.E622del|CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000506290.1_In_Frame_Del_p.E633del|RASA1_ENST00000512763.1_In_Frame_Del_p.E632del	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	799	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GCACCTTGATGGAGCAGTATATG	0.369																																						uc003kiw.2		NA																	0				upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5						c.(2392-2397)ATGGAG>ATG		RAS p21 protein activator 1 isoform 1																																				SO:0001651	inframe_deletion	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86674262_86674264delGGA		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2394_2396delGGA	5.37:g.86674262_86674264delGGA	ENSP00000274376:p.Glu799del					RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_In_Frame_Del_p.E622del|RASA1_uc011ctv.1_In_Frame_Del_p.E632del|RASA1_uc011ctw.1_In_Frame_Del_p.E633del|RASA1_uc010jaw.2_In_Frame_Del_p.E621del	p.E799del	NM_002890	NP_002881	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	18	2512_2514	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	799			Ras-GAP.		B2R6W3|Q9UDI1	In_Frame_Del	DEL	ENST00000274376.6	37	c.2394_2396delGGA	CCDS34200.1																																																																																				0.369	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		34	119	NA	NA	NA	NA	34	119	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CN-5366-01A-01D-1434-08	TCGA-CN-5366-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	161342fd-4cfa-4fc8-9708-7bb815b137c6	a7c5797e-de41-4381-9ce7-8277a48494f3	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375349.3_5'UTR|DXO_ENST00000375356.3_5'Flank	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																						uc003nyv.2		NA																	0				skin(4)	4						c.(52-54)CGGfs		serine/threonine kinase 19 isoform 2																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					DOM3Z_uc003nyo.1_5'UTR|DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_5'UTR|DOM3Z_uc003nys.1_5'Flank|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.2_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.1_Frame_Shift_Ins_p.R18fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.2_Frame_Shift_Ins_p.R18fs|STK19_uc010jtn.1_5'Flank	p.R18fs	NM_032454	NP_115830	P49842	STK19_HUMAN			1	180_181	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			11	273	NA	NA	NA	NA	11	273	---	---	---	---
