#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
SYF2	25949	broad.mit.edu	37	1	25549911	25549911	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:25549911C>T	ENST00000236273.4	-	7	603	c.578G>A	c.(577-579)cGa>cAa	p.R193Q	SYF2_ENST00000354361.3_Missense_Mutation_p.R151Q	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	193					embryonic organ development (GO:0048568)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|mitotic G2 DNA damage checkpoint (GO:0007095)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R193L(1)		kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		ATATTTGTCTCGTTTTTCAAT	0.323																																						uc001bjt.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(577-579)CGA>CAA		SYF2 homolog, RNA splicing factor isoform 1							119.0	126.0	124.0					1																	25549911		2203	4300	6503	SO:0001583	missense	25949					catalytic step 2 spliceosome		g.chr1:25549911C>T	AF273089	CCDS258.1, CCDS259.1	1p36.11	2013-08-21	2013-08-21	2005-09-14	ENSG00000117614	ENSG00000117614			19824	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 29"""	607090	"""CCNDBP1 interactor"", ""SYF2 homolog, RNA splicing factor (S. cerevisiae)"""	CBPIN		11118353	Standard	NM_207170		Approved	p29, DKFZp564O2082, NTC31, fSAP29	uc001bjt.1	O95926	OTTHUMG00000043610	ENST00000236273.4:c.578G>A	1.37:g.25549911C>T	ENSP00000236273:p.Arg193Gln					SYF2_uc001bju.1_Missense_Mutation_p.R151Q	p.R193Q	NM_015484	NP_056299	O95926	SYF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)	7	633	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	193					Q5TH73	Missense_Mutation	SNP	ENST00000236273.4	37	c.578G>A	CCDS259.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982797	0.93044	.	.	ENSG00000117614	ENST00000236273;ENST00000354361	T;T	0.61510	0.1;0.29	5.56	5.56	0.83823	.	0.118364	0.56097	D	0.000022	D	0.82604	0.5073	H	0.94183	3.505	0.80722	D	1	D;D	0.71674	0.998;0.985	D;P	0.67548	0.952;0.792	D	0.87083	0.2167	10	0.87932	D	0	-31.2399	18.4436	0.90676	0.0:1.0:0.0:0.0	.	193;193	B2RBX8;O95926	.;SYF2_HUMAN	Q	193;151	ENSP00000236273:R193Q;ENSP00000346330:R151Q	ENSP00000236273:R193Q	R	-	2	0	SYF2	25422498	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.409000	0.80053	2.778000	0.95560	0.655000	0.94253	CGA		0.323	SYF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101962.1	NM_015484		64	178	0	0	0	0	64	178				
EXTL1	2134	broad.mit.edu	37	1	26349620	26349620	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:26349620C>T	ENST00000374280.3	+	1	1350	c.483C>T	c.(481-483)gtC>gtT	p.V161V		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	161					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		ACCATCTGGTCCTCCGTCTCC	0.667																																						uc001blf.2		NA																	0				central_nervous_system(1)	1						c.(481-483)GTC>GTT		exostoses-like 1							49.0	49.0	49.0					1																	26349620		2203	4300	6503	SO:0001819	synonymous_variant	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349620C>T	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.483C>T	1.37:g.26349620C>T							p.V161V	NM_004455	NP_004446	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1350	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	161			Lumenal (Potential).		Q6GSC1	Silent	SNP	ENST00000374280.3	37	c.483C>T	CCDS271.1																																																																																				0.667	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		30	69	0	0	0	0	30	69				
DNAJC8	22826	broad.mit.edu	37	1	28536520	28536520	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:28536520T>A	ENST00000263697.4	-	5	388	c.362A>T	c.(361-363)gAt>gTt	p.D121V	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	121	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)				kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAATTACATCCAGGGCCCT	0.428																																						uc001bpn.2		NA																	0					0						c.(361-363)GAT>GTT		DnaJ (Hsp40) homolog, subfamily C, member 8							128.0	110.0	115.0					1																	28536520		1874	4109	5983	SO:0001583	missense	22826				nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding	g.chr1:28536520T>A	AF083190	CCDS41292.1	1p35	2011-09-02			ENSG00000126698	ENSG00000126698		"""Heat shock proteins / DNAJ (HSP40)"""	15470	protein-coding gene	gene with protein product						11147971	Standard	NM_014280		Approved	SPF31	uc001bpn.3	O75937	OTTHUMG00000003538	ENST00000263697.4:c.362A>T	1.37:g.28536520T>A	ENSP00000263697:p.Asp121Val					DNAJC8_uc001bpo.2_RNA	p.D121V	NM_014280	NP_055095	O75937	DNJC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)	5	395	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	121			J.		B4DUU4|D3DPM0|Q6IBA4|Q8N4Z5|Q9P051|Q9P067	Missense_Mutation	SNP	ENST00000263697.4	37	c.362A>T	CCDS41292.1	.	.	.	.	.	.	.	.	.	.	T	19.49	3.837309	0.71373	.	.	ENSG00000126698	ENST00000263697	T	0.71698	-0.59	5.9	5.9	0.94986	Heat shock protein DnaJ, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.78084	0.4228	M	0.85630	2.765	0.80722	D	1	P	0.41080	0.737	B	0.43103	0.408	T	0.81415	-0.0943	10	0.59425	D	0.04	-7.9404	16.3201	0.82949	0.0:0.0:0.0:1.0	.	121	O75937	DNJC8_HUMAN	V	121	ENSP00000263697:D121V	ENSP00000263697:D121V	D	-	2	0	DNAJC8	28409107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.604000	0.82830	2.252000	0.74401	0.528000	0.53228	GAT		0.428	DNAJC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009860.1	NM_014280		22	106	0	0	0	0	22	106				
RIMS3	9783	broad.mit.edu	37	1	41107474	41107474	+	Missense_Mutation	SNP	C	C	T	rs149583022		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:41107474C>T	ENST00000372684.3	-	3	593	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	RIMS3_ENST00000372683.1_Missense_Mutation_p.A42T	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	42					calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)		p.A42T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CGCTTCTTGGCGGTGGTGGTC	0.657																																						uc001cfu.1		NA																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(124-126)GCC>ACC		regulating synaptic membrane exocytosis 3		C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	39.0	38.0	39.0		124	3.6	0.5	1	dbSNP_134	39	1,8597	1.2+/-3.3	0,1,4298	no	missense	RIMS3	NM_014747.2	58	0,3,6499	TT,TC,CC		0.0116,0.0454,0.0231	benign	42/309	41107474	3,13001	2203	4299	6502	SO:0001583	missense	9783				neurotransmitter transport	cell junction|synapse		g.chr1:41107474C>T	BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.124G>A	1.37:g.41107474C>T	ENSP00000361769:p.Ala42Thr					RIMS3_uc001cfv.1_Missense_Mutation_p.A42T	p.A42T	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)		3	593	-	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	42					D3DPV8|Q92511|X5D7U7	Missense_Mutation	SNP	ENST00000372684.3	37	c.124G>A	CCDS30687.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368553	0.42003	4.54E-4	1.16E-4	ENSG00000117016	ENST00000372684;ENST00000372683	T;T	0.36520	1.25;1.25	5.52	3.61	0.41365	.	0.398245	0.29587	N	0.011725	T	0.15046	0.0363	N	0.04203	-0.255	0.31819	N	0.626227	B	0.11235	0.004	B	0.04013	0.001	T	0.07693	-1.0759	10	0.34782	T	0.22	-14.4647	5.0493	0.14499	0.1685:0.661:0.0:0.1705	.	42	Q9UJD0	RIMS3_HUMAN	T	42	ENSP00000361769:A42T;ENSP00000361768:A42T	ENSP00000361768:A42T	A	-	1	0	RIMS3	40880061	0.976000	0.34144	0.544000	0.28141	0.749000	0.42624	2.542000	0.45744	0.659000	0.30945	0.655000	0.94253	GCC		0.657	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019585.1	NM_014747		17	62	0	0	0	0	17	62				
FOXD3	27022	broad.mit.edu	37	1	63789386	63789386	+	Silent	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:63789386G>A	ENST00000371116.2	+	1	657	c.657G>A	c.(655-657)ccG>ccA	p.P219P	RP4-792G4.2_ENST00000426393.1_RNA|RP4-792G4.2_ENST00000431294.1_RNA|RP4-792G4.2_ENST00000418244.1_RNA|RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000449386.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	219					embryonic placenta development (GO:0001892)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|trophectodermal cell differentiation (GO:0001829)	nuclear chromatin (GO:0000790)	double-stranded DNA binding (GO:0003690)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCCTGGACCCGCAGTCCGAGG	0.642																																					Pancreas(68;276 1750 11966 31252)	uc001dax.2		NA																	0					0						c.(655-657)CCG>CCA		forkhead box D3							67.0	78.0	75.0					1																	63789386		2203	4300	6503	SO:0001819	synonymous_variant	27022				axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:63789386G>A	AF197560	CCDS624.1	1p31.3	2008-04-10			ENSG00000187140	ENSG00000187140		"""Forkhead boxes"""	3804	protein-coding gene	gene with protein product		611539				8499623	Standard	NM_012183		Approved	Genesis, HFH2	uc001dax.2	Q9UJU5	OTTHUMG00000009141	ENST00000371116.2:c.657G>A	1.37:g.63789386G>A							p.P219P	NM_012183	NP_036315	Q9UJU5	FOXD3_HUMAN			1	657	+			219			Fork-head.		Q9BYM2|Q9UDD1	Silent	SNP	ENST00000371116.2	37	c.657G>A	CCDS624.1																																																																																				0.642	FOXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025331.1			5	186	0	0	0	0	5	186				
ERICH3	127254	broad.mit.edu	37	1	75037806	75037806	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:75037806C>T	ENST00000326665.5	-	14	3806	c.3588G>A	c.(3586-3588)ctG>ctA	p.L1196L	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1196	Glu-rich.							p.L1196L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCCTGCTGGACAGCTCTTCTC	0.552																																						uc001dgg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(3586-3588)CTG>CTA		hypothetical protein LOC127254							144.0	142.0	142.0					1																	75037806		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75037806C>T																												ENST00000326665.5:c.3588G>A	1.37:g.75037806C>T							p.L1196L	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	3807	-			1196			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.3588G>A	CCDS30755.1																																																																																				0.552	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			129	198	0	0	0	0	129	198				
COL24A1	255631	broad.mit.edu	37	1	86499564	86499564	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:86499564C>A	ENST00000370571.2	-	13	2359	c.1993G>T	c.(1993-1995)Gat>Tat	p.D665Y	COL24A1_ENST00000436319.1_Missense_Mutation_p.D665Y	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	665	Collagen-like 3.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GGACTGCCATCAAGACCAGCA	0.403																																						uc001dlj.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1993-1995)GAT>TAT		collagen, type XXIV, alpha 1 precursor							66.0	69.0	68.0					1																	86499564		1960	4150	6110	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86499564C>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1993G>T	1.37:g.86499564C>A	ENSP00000359603:p.Asp665Tyr					COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	p.D665Y	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	13	2035	-			665			Collagen-like 3.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1993G>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545624	0.45280	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94330	-3.4;-3.4	5.36	5.36	0.76844	.	0.000000	0.41194	D	0.000935	D	0.96393	0.8823	M	0.82433	2.59	0.54753	D	0.999982	D	0.89917	1.0	D	0.85130	0.997	D	0.96510	0.9378	10	0.59425	D	0.04	.	15.7911	0.78364	0.0:1.0:0.0:0.0	.	665	Q17RW2	COOA1_HUMAN	Y	665	ENSP00000359603:D665Y;ENSP00000392531:D665Y	ENSP00000359603:D665Y	D	-	1	0	COL24A1	86272152	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	4.010000	0.57117	2.489000	0.83994	0.655000	0.94253	GAT		0.403	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		9	35	1	0	4.69e-08	5.06e-08	9	35				
CCDC18	343099	broad.mit.edu	37	1	93649684	93649684	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:93649684A>C	ENST00000343253.7	+	3	786	c.284A>C	c.(283-285)cAa>cCa	p.Q95P	CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.Q213P|CCDC18_ENST00000401026.3_Missense_Mutation_p.Q95P|CCDC18_ENST00000334652.5_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	95										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		ACTGATTTTCAAAAAAAGCCA	0.308																																						uc001dpq.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(637-639)CAA>CCA		sarcoma antigen NY-SAR-41							50.0	45.0	47.0					1																	93649684		1799	4070	5869	SO:0001583	missense	343099							g.chr1:93649684A>C			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.284A>C	1.37:g.93649684A>C	ENSP00000343377:p.Gln95Pro						p.Q213P	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	3	806	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	95					Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.638A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.056|7.056	0.565454|0.565454	0.13560|0.13560	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000370276|ENST00000343253;ENST00000401026;ENST00000557479	.|.	.|.	.|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.375110	.|0.25991	.|N	.|0.027007	T|T	0.36386|0.36386	0.0965|0.0965	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|P	.|0.46220	.|0.874	.|P	.|0.48227	.|0.571	T|T	0.33420|0.33420	-0.9869|-0.9869	5|9	.|0.48119	.|T	.|0.1	.|.	13.4304|13.4304	0.61051|0.61051	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|213	.|G3V388	.|.	Q|P	149|95;95;213	.|.	.|ENSP00000343377:Q95P	K|Q	+|+	1|2	0|0	CCDC18|CCDC18	93422272|93422272	1.000000|1.000000	0.71417|0.71417	0.033000|0.033000	0.17914|0.17914	0.022000|0.022000	0.10575|0.10575	1.634000|1.634000	0.37123|0.37123	2.189000|2.189000	0.69895|0.69895	0.482000|0.482000	0.46254|0.46254	AAA|CAA		0.308	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		17	78	0	0	0	0	17	78				
PIFO	128344	broad.mit.edu	37	1	111891150	111891150	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:111891150C>A	ENST00000369738.4	+	4	636	c.271C>A	c.(271-273)Cat>Aat	p.H91N	PIFO_ENST00000484512.1_3'UTR|PIFO_ENST00000369737.4_Missense_Mutation_p.H58N	NM_181643.4	NP_857594.2	Q8TCI5	PIFO_HUMAN	primary cilia formation	91					cell projection organization (GO:0030030)|positive regulation of kinase activity (GO:0033674)|regulation of cell projection organization (GO:0031344)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	beta-tubulin binding (GO:0048487)|gamma-tubulin binding (GO:0043015)|kinesin binding (GO:0019894)|protein kinase binding (GO:0019901)|Rab GTPase binding (GO:0017137)										AATGACACCTCATGCAGGCAG	0.363																																						uc001eaw.2		NA																	0				ovary(1)|skin(1)	2						c.(271-273)CAT>AAT		hypothetical protein LOC128344							195.0	214.0	208.0					1																	111891150		2203	4300	6503	SO:0001583	missense	128344							g.chr1:111891150C>A	BC050319	CCDS833.1, CCDS72836.1	1p13.2	2012-10-10	2012-10-10	2012-10-10	ENSG00000173947	ENSG00000173947			27009	protein-coding gene	gene with protein product		614234	"""chromosome 1 open reading frame 88"""	C1orf88		20643351	Standard	XM_005270472		Approved	FLJ23853, pitchfork	uc001eaw.2	Q8TCI5	OTTHUMG00000011168	ENST00000369738.4:c.271C>A	1.37:g.111891150C>A	ENSP00000358753:p.His91Asn					C1orf88_uc001eax.2_Missense_Mutation_p.H58N|C1orf88_uc009wge.1_Intron|C1orf88_uc001eay.2_Missense_Mutation_p.H4N	p.H91N	NM_181643	NP_857594	Q8TCI5	CA088_HUMAN		Lung(183;0.0239)|Colorectal(144;0.0301)|all cancers(265;0.0677)|Epithelial(280;0.0897)|COAD - Colon adenocarcinoma(174;0.116)|LUSC - Lung squamous cell carcinoma(189;0.135)	4	351	+		all_cancers(81;3.21e-05)|all_epithelial(167;1.19e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	91					D9J0A2|D9J0A3|Q4G0K4|Q52LJ6|Q5T5D5|Q5T5D6|Q8N310	Missense_Mutation	SNP	ENST00000369738.4	37	c.271C>A	CCDS833.1	.	.	.	.	.	.	.	.	.	.	C	4.154	0.026995	0.08054	.	.	ENSG00000173947	ENST00000369738;ENST00000369737	T;T	0.28454	1.97;1.61	4.4	-4.86	0.03132	.	1.004140	0.08024	N	0.992372	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B;B	0.27117	0.168;0.168	B;B	0.25140	0.058;0.058	T	0.36890	-0.9729	10	0.26408	T	0.33	-9.0E-4	0.3637	0.00368	0.2908:0.278:0.1504:0.2808	.	58;91	Q8TCI5-3;Q8TCI5	.;PIFO_HUMAN	N	91;58	ENSP00000358753:H91N;ENSP00000358752:H58N	ENSP00000358752:H58N	H	+	1	0	C1orf88	111692673	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.134000	0.03228	-0.585000	0.05905	-2.234000	0.00290	CAT		0.363	PIFO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030718.1	NM_181643		82	293	1	0	2.48e-37	2.77e-37	82	293				
BCL9	607	broad.mit.edu	37	1	147094302	147094302	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:147094302C>T	ENST00000234739.3	+	9	3873	c.3133C>T	c.(3133-3135)Ccc>Tcc	p.P1045S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1045	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)					AGCTCGTTCTCCCAACTTGCC	0.478			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.(3133-3135)CCC>TCC		B-cell CLL/lymphoma 9							103.0	97.0	99.0					1																	147094302		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147094302C>T	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.3133C>T	1.37:g.147094302C>T	ENSP00000234739:p.Pro1045Ser					BCL9_uc010ozr.1_Missense_Mutation_p.P971S	p.P1045S	NM_004326	NP_004317	O00512	BCL9_HUMAN			9	3873	+	all_hematologic(923;0.115)		1045			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.3133C>T	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	34	5.296437	0.95574	.	.	ENSG00000116128	ENST00000234739	T	0.76060	-0.99	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.82090	-0.0629	10	0.66056	D	0.02	-11.0475	20.063	0.97692	0.0:1.0:0.0:0.0	.	1045;1045	Q1JQ81;O00512	.;BCL9_HUMAN	S	1045	ENSP00000234739:P1045S	ENSP00000234739:P1045S	P	+	1	0	BCL9	145560926	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.735000	0.93741	0.655000	0.94253	CCC		0.478	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		71	105	0	0	0	0	71	105				
HRNR	388697	broad.mit.edu	37	1	152187698	152187698	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:152187698T>C	ENST00000368801.2	-	3	6482	c.6407A>G	c.(6406-6408)cAc>cGc	p.H2136R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2136					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTAGAGCCGTGTTGTCCGTA	0.562																																						uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(6406-6408)CAC>CGC		hornerin							95.0	103.0	100.0					1																	152187698		1605	3272	4877	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187698T>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6407A>G	1.37:g.152187698T>C	ENSP00000357791:p.His2136Arg						p.H2136R	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6483	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2136					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6407A>G	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.638	0.302450	0.10678	.	.	ENSG00000197915	ENST00000368801	T	0.01947	4.54	3.59	2.38	0.29361	.	.	.	.	.	T	0.00666	0.0022	L	0.54323	1.7	0.09310	N	1	P	0.35575	0.51	B	0.31614	0.133	T	0.46414	-0.9193	9	0.14252	T	0.57	.	3.3571	0.07173	0.1994:0.1161:0.0:0.6845	.	2136	Q86YZ3	HORN_HUMAN	R	2136	ENSP00000357791:H2136R	ENSP00000357791:H2136R	H	-	2	0	HRNR	150454322	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.736000	0.26130	0.510000	0.28216	0.491000	0.48974	CAC		0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		17	612	0	0	0	0	17	612				
GATAD2B	57459	broad.mit.edu	37	1	153788833	153788833	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:153788833G>T	ENST00000368655.4	-	7	1375	c.1132C>A	c.(1132-1134)Cat>Aat	p.H378N		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	378	CR2; histone tail-binding.				ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCAAGAAATGAAGTAAGGGA	0.502																																						uc001fdb.3		NA																	0					0						c.(1132-1134)CAT>AAT		GATA zinc finger domain containing 2B							99.0	80.0	86.0					1																	153788833		2203	4300	6503	SO:0001583	missense	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153788833G>T	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.1132C>A	1.37:g.153788833G>T	ENSP00000357644:p.His378Asn						p.H378N	NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		7	1376	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		378			CR2.		D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	37	c.1132C>A	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	G	3.787	-0.044452	0.07452	.	.	ENSG00000143614	ENST00000368655	T	0.29655	1.56	4.92	4.92	0.64577	.	0.045642	0.85682	D	0.000000	T	0.06416	0.0165	N	0.16233	0.39	0.58432	D	0.999994	B	0.12630	0.006	B	0.09377	0.004	T	0.11227	-1.0596	10	0.02654	T	1	-1.3418	12.1573	0.54085	0.0:0.0:0.8286:0.1714	.	378	Q8WXI9	P66B_HUMAN	N	378	ENSP00000357644:H378N	ENSP00000357644:H378N	H	-	1	0	GATAD2B	152055457	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.168000	0.50801	2.549000	0.85964	0.563000	0.77884	CAT		0.502	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	NM_020699		18	105	1	0	5.01e-05	5.33e-05	18	105				
OR6K6	128371	broad.mit.edu	37	1	158724637	158724637	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:158724637C>A	ENST00000368144.2	+	1	128	c.32C>A	c.(31-33)tCc>tAc	p.S11Y		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					AATCAACATTCCAATTATAGG	0.393																																						uc001fsw.1		NA																	0				skin(1)	1						c.(31-33)TCC>TAC		olfactory receptor, family 6, subfamily K,							138.0	141.0	140.0					1																	158724637		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158724637C>A	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.32C>A	1.37:g.158724637C>A	ENSP00000357126:p.Ser11Tyr						p.S11Y	NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN			1	32	+	all_hematologic(112;0.0378)		11			Extracellular (Potential).		B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.32C>A	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	C	9.456	1.091924	0.20471	.	.	ENSG00000180433	ENST00000368144	T	0.00316	8.13	4.7	-3.16	0.05217	.	.	.	.	.	T	0.00039	0.0001	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.03384	-1.1042	9	0.25751	T	0.34	.	2.5719	0.04797	0.1162:0.3161:0.12:0.4477	.	11	Q8NGW6	OR6K6_HUMAN	Y	11	ENSP00000357126:S11Y	ENSP00000357126:S11Y	S	+	2	0	OR6K6	156991261	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.217000	0.02979	-0.936000	0.03723	-0.768000	0.03414	TCC		0.393	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		28	87	1	0	2.13e-12	2.33e-12	28	87				
ATP1A4	480	broad.mit.edu	37	1	160134194	160134194	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:160134194G>T	ENST00000368081.4	+	7	1498	c.1027G>T	c.(1027-1029)Ggg>Tgg	p.G343W		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	343					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTGCCTGAGGGGCTGTTGGC	0.512																																						uc001fve.3		NA																	0				ovary(2)|skin(2)	4						c.(1027-1029)GGG>TGG		Na+/K+ -ATPase alpha 4 subunit isoform 1							217.0	196.0	203.0					1																	160134194		2203	4300	6503	SO:0001583	missense	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160134194G>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1027G>T	1.37:g.160134194G>T	ENSP00000357060:p.Gly343Trp					ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'Flank	p.G343W	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	1506	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		343			Helical; (Potential).		Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	c.1027G>T	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418765	0.83559	.	.	ENSG00000132681	ENST00000368081	D	0.93189	-3.18	4.69	4.69	0.59074	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.98463	0.9488	H	0.99877	4.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99026	1.0819	10	0.87932	D	0	.	15.5128	0.75798	0.0:0.0:1.0:0.0	.	343	Q13733	AT1A4_HUMAN	W	343	ENSP00000357060:G343W	ENSP00000357060:G343W	G	+	1	0	ATP1A4	158400818	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.601000	0.98297	2.593000	0.87608	0.655000	0.94253	GGG		0.512	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		68	263	1	0	2.1e-26	2.34e-26	68	263				
PRRC2C	23215	broad.mit.edu	37	1	171492442	171492442	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:171492442G>A	ENST00000338920.4	+	8	1147	c.910G>A	c.(910-912)Gag>Aag	p.E304K	PRRC2C_ENST00000426496.2_Missense_Mutation_p.E304K|PRRC2C_ENST00000392078.3_Missense_Mutation_p.E306K|PRRC2C_ENST00000367742.3_Missense_Mutation_p.E306K|PRRC2C_ENST00000476522.1_3'UTR	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	304					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGAACTGAAGGAGCTTGATAA	0.448																																						uc010pmg.1		NA																	0					0						c.(910-912)GAG>AAG		HBxAg transactivated protein 2							67.0	63.0	64.0					1																	171492442		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171492442G>A	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.910G>A	1.37:g.171492442G>A	ENSP00000343629:p.Glu304Lys					BAT2L2_uc001ghr.1_Missense_Mutation_p.E306K	p.E304K	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			8	1176	+			304					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.910G>A	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642192	0.67244	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.03580	3.89;3.89;3.88;3.88	5.23	5.23	0.72850	.	0.000000	0.42821	U	0.000646	T	0.10078	0.0247	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.985	T	0.38023	-0.9680	10	0.16896	T	0.51	.	18.8324	0.92145	0.0:0.0:1.0:0.0	.	304;306	Q9Y520-4;E7EPN9	.;.	K	306;304;304;306;304;60;62	ENSP00000375928:E306K;ENSP00000410219:E304K;ENSP00000356716:E306K;ENSP00000343629:E304K	ENSP00000343629:E304K	E	+	1	0	PRRC2C	169759066	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.110000	0.94302	2.448000	0.82819	0.655000	0.94253	GAG		0.448	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		23	29	0	0	0	0	23	29				
CACYBP	27101	broad.mit.edu	37	1	174977745	174977745	+	Splice_Site	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:174977745G>A	ENST00000367679.2	+	5	881	c.433G>A	c.(433-435)Gtc>Atc	p.V145I	CACYBP_ENST00000367681.2_Splice_Site_p.V102I|CACYBP_ENST00000405362.1_Splice_Site_p.V102I|MRPS14_ENST00000498253.1_5'Flank	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	145	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.|Interaction with SKP1.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						TTTCTTCCAGGTCAAGACTGA	0.353																																						uc001gkj.1		NA																	0					0						c.(433-435)GTC>ATC		calcyclin binding protein isoform 1							98.0	96.0	96.0					1																	174977745		2203	4300	6503	SO:0001630	splice_region_variant	27101					beta-catenin destruction complex	protein homodimerization activity	g.chr1:174977745G>A	BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.433-1G>A	1.37:g.174977745G>A						CACYBP_uc001gki.1_Missense_Mutation_p.V102I	p.V145I	NM_014412	NP_055227	Q9HB71	CYBP_HUMAN			5	858	+			145			Interaction with SKP1.|CS.		B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Missense_Mutation	SNP	ENST00000367679.2	37	c.433G>A	CCDS1315.1	.	.	.	.	.	.	.	.	.	.	G	9.647	1.140501	0.21205	.	.	ENSG00000116161	ENST00000367681;ENST00000450101;ENST00000367679;ENST00000405362	T;T;T	0.11930	2.73;2.73;2.73	5.47	2.12	0.27331	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.202167	0.50627	N	0.000105	T	0.07052	0.0179	N	0.12611	0.24	0.38162	D	0.93906	B	0.02656	0.0	B	0.04013	0.001	T	0.29852	-0.9998	9	.	.	.	-7.8982	11.3609	0.49642	0.2899:0.0:0.7101:0.0	.	145	Q9HB71	CYBP_HUMAN	I	102;118;145;102	ENSP00000356654:V102I;ENSP00000356652:V145I;ENSP00000385771:V102I	.	V	+	1	0	CACYBP	173244368	1.000000	0.71417	0.999000	0.59377	0.921000	0.55340	1.618000	0.36954	0.687000	0.31509	0.591000	0.81541	GTC		0.353	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084583.3	NM_014412	Missense_Mutation	21	82	0	0	0	0	21	82				
IPO9	55705	broad.mit.edu	37	1	201824934	201824934	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:201824934C>G	ENST00000361565.4	+	10	1063	c.994C>G	c.(994-996)Ctc>Gtc	p.L332V		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	332					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CTTTGAAAATCTCGTCTTTAG	0.328																																						uc001gwz.2		NA																	0				ovary(2)	2						c.(994-996)CTC>GTC		importin 9							71.0	70.0	70.0					1																	201824934		2203	4300	6503	SO:0001583	missense	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201824934C>G	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.994C>G	1.37:g.201824934C>G	ENSP00000354742:p.Leu332Val						p.L332V	NM_018085	NP_060555	Q96P70	IPO9_HUMAN			10	1044	+			332					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	ENST00000361565.4	37	c.994C>G	CCDS1415.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727784	0.69074	.	.	ENSG00000198700	ENST00000361565	T	0.64438	-0.1	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.54598	0.1868	L	0.28400	0.85	0.80722	D	1	P	0.50617	0.937	P	0.44561	0.453	T	0.53078	-0.8489	10	0.31617	T	0.26	-10.1832	16.9762	0.86313	0.0:1.0:0.0:0.0	.	332	Q96P70	IPO9_HUMAN	V	332	ENSP00000354742:L332V	ENSP00000354742:L332V	L	+	1	0	IPO9	200091557	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.058000	0.57463	2.673000	0.90976	0.650000	0.86243	CTC		0.328	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		24	70	0	0	0	0	24	70				
BTG2	7832	broad.mit.edu	37	1	203276399	203276399	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:203276399G>A	ENST00000290551.4	+	2	381	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	104					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			GACCCTGTGGGTGGACCCCTA	0.652																																						uc001gzq.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(310-312)GTG>ATG		B-cell translocation gene 2							49.0	51.0	51.0					1																	203276399		2203	4300	6503	SO:0001583	missense	7832				DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr1:203276399G>A		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"""B-cell translocation gene 2"", ""pheochromacytoma cell-3"", ""NGF-inducible anti-proliferative protein PC3"", ""nerve growth factor-inducible anti-proliferative"""	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.310G>A	1.37:g.203276399G>A	ENSP00000290551:p.Val104Met					FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA	p.V104M	NM_006763	NP_006754	P78543	BTG2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.203)		2	381	+			104					A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	c.310G>A	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730749	0.89390	.	.	ENSG00000159388	ENST00000290551	T	0.37752	1.18	5.06	5.06	0.68205	Anti-proliferative protein (4);	0.000000	0.64402	D	0.000006	T	0.70307	0.3209	M	0.93678	3.445	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.79708	-0.1690	10	0.87932	D	0	-23.1625	16.9791	0.86322	0.0:0.0:1.0:0.0	.	104	P78543	BTG2_HUMAN	M	104	ENSP00000290551:V104M	ENSP00000290551:V104M	V	+	1	0	BTG2	201543022	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.476000	0.97823	2.360000	0.80028	0.313000	0.20887	GTG		0.652	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763		48	82	0	0	0	0	48	82				
LEFTY2	7044	broad.mit.edu	37	1	226127192	226127192	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:226127192C>T	ENST00000366820.5	-	3	954	c.606G>A	c.(604-606)tcG>tcA	p.S202S	LEFTY2_ENST00000420304.2_Silent_p.S168S|RP4-559A3.6_ENST00000513672.1_RNA|LEFTY2_ENST00000474493.1_5'UTR	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	202					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CCCTCTGCACCGACACCTGTA	0.721																																					Colon(172;116 2643 9098 43333)	uc001hpt.1		NA																	0					0						c.(604-606)TCG>TCA		endometrial bleeding associated factor							9.0	14.0	12.0					1																	226127192		2141	4170	6311	SO:0001819	synonymous_variant	7044				cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	g.chr1:226127192C>T	U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"""transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"""	601877	"""endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"""	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.606G>A	1.37:g.226127192C>T						LEFTY2_uc010pvk.1_Silent_p.S168S|LEFTY2_uc009xek.1_Intron	p.S202S	NM_003240	NP_003231	O00292	LFTY2_HUMAN			3	686	-	Breast(184;0.197)		202					B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Silent	SNP	ENST00000366820.5	37	c.606G>A	CCDS1549.1																																																																																				0.721	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091152.1	NM_003240		6	21	0	0	0	0	6	21				
RYR2	6262	broad.mit.edu	37	1	237829847	237829847	+	Silent	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:237829847G>T	ENST00000366574.2	+	57	8789	c.8472G>T	c.(8470-8472)cgG>cgT	p.R2824R	RYR2_ENST00000360064.6_Silent_p.R2822R|RYR2_ENST00000542537.1_Silent_p.R2808R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2824	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|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)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAGTCCCCGGGCCATTGACA	0.363																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(8470-8472)CGG>CGT		cardiac muscle ryanodine receptor							57.0	54.0	55.0					1																	237829847		1860	4097	5957	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237829847G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8472G>T	1.37:g.237829847G>T							p.R2824R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		57	8592	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2824			Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|4.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.8472G>T	CCDS55691.1																																																																																				0.363	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		11	23	1	0	3.04e-14	3.34e-14	11	23				
CUBN	8029	broad.mit.edu	37	10	16994278	16994278	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:16994278G>C	ENST00000377833.4	-	33	5031	c.4966C>G	c.(4966-4968)Cca>Gca	p.P1656A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1656	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACTTACATGGAGGTTGCGCT	0.438																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(4966-4968)CCA>GCA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						205.0	189.0	195.0					10																	16994278		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16994278G>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4966C>G	10.37:g.16994278G>C	ENSP00000367064:p.Pro1656Ala						p.P1656A	NM_001081	NP_001072	O60494	CUBN_HUMAN			33	5018	-			1656			CUB 11.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.4966C>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203565	0.58234	.	.	ENSG00000107611	ENST00000377833	T	0.16196	2.36	5.75	4.85	0.62838	CUB (5);	0.364180	0.19985	N	0.101684	T	0.39809	0.1092	M	0.66297	2.02	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	T	0.13388	-1.0511	10	0.45353	T	0.12	.	14.7451	0.69485	0.0694:0.0:0.9306:0.0	.	1656	O60494	CUBN_HUMAN	A	1656	ENSP00000367064:P1656A	ENSP00000367064:P1656A	P	-	1	0	CUBN	17034284	1.000000	0.71417	0.984000	0.44739	0.423000	0.31445	8.583000	0.90794	1.436000	0.47453	-0.136000	0.14681	CCA		0.438	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		26	89	0	0	0	0	26	89				
SVIL	6840	broad.mit.edu	37	10	29762869	29762869	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:29762869C>G	ENST00000355867.4	-	30	6179	c.5427G>C	c.(5425-5427)gaG>gaC	p.E1809D	SVIL_ENST00000375400.3_Missense_Mutation_p.E1383D|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.E723D|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000375398.2_Missense_Mutation_p.E1809D	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1809					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGACGCACTTCTCTTTGCCGG	0.627																																						uc001iut.1		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(5425-5427)GAG>GAC		supervillin isoform 2							68.0	51.0	57.0					10																	29762869		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29762869C>G	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5427G>C	10.37:g.29762869C>G	ENSP00000348128:p.Glu1809Asp					LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.E723D|SVIL_uc001iuu.1_Missense_Mutation_p.E1383D	p.E1809D	NM_021738	NP_068506	O95425	SVIL_HUMAN			30	6180	-		Breast(68;0.103)	1809			Gelsolin-like 3.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.5427G>C	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870124	0.72065	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.37	4.41	0.53225	.	0.099134	0.64402	D	0.000002	T	0.37237	0.0996	L	0.42686	1.345	0.80722	D	1	P;B;B	0.41710	0.76;0.006;0.016	P;B;B	0.57057	0.812;0.027;0.018	T	0.08289	-1.0729	10	0.66056	D	0.02	-25.2904	10.7971	0.46466	0.0:0.7951:0.1319:0.073	.	723;1383;1809	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	D	1383;1809;1809;723	ENSP00000364549:E1383D;ENSP00000364547:E1809D;ENSP00000348128:E1809D;ENSP00000445472:E723D	ENSP00000348128:E1809D	E	-	3	2	SVIL	29802875	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	3.209000	0.51122	2.505000	0.84491	0.655000	0.94253	GAG		0.627	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			15	50	0	0	0	0	15	50				
MAP3K8	1326	broad.mit.edu	37	10	30749693	30749693	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:30749693C>T	ENST00000263056.1	+	9	2028	c.1332C>T	c.(1330-1332)ctC>ctT	p.L444L	MAP3K8_ENST00000542547.1_Silent_p.L444L|MAP3K8_ENST00000375321.1_Silent_p.L444L	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	444			Missing (in oncogenic form).		cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				AACGCTCTCTCTACATCGACC	0.463																																						uc001ivi.1		NA																	0				breast(3)|central_nervous_system(1)	4						c.(1330-1332)CTC>CTT		mitogen-activated protein kinase kinase kinase							107.0	95.0	99.0					10																	30749693		2203	4300	6503	SO:0001819	synonymous_variant	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30749693C>T	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.1332C>T	10.37:g.30749693C>T						MAP3K8_uc009xlf.1_Silent_p.L444L|MAP3K8_uc001ivj.1_Silent_p.L444L	p.L444L	NM_005204	NP_005195	P41279	M3K8_HUMAN			9	2028	+		Prostate(175;0.151)	444		Missing (in oncogenic form).			A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Silent	SNP	ENST00000263056.1	37	c.1332C>T	CCDS7166.1																																																																																				0.463	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204		73	110	0	0	0	0	73	110				
CFAP43	80217	broad.mit.edu	37	10	105974155	105974155	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:105974155T>G	ENST00000278064.2	-	4	561	c.236A>C	c.(235-237)aAg>aCg	p.K79T	WDR96_ENST00000369719.1_Missense_Mutation_p.K79T|WDR96_ENST00000428666.1_Missense_Mutation_p.K149T|WDR96_ENST00000357060.3_Missense_Mutation_p.K149T|WDR96_ENST00000369720.1_Missense_Mutation_p.K79T																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGTGATTTCTTACACAAAAT	0.373																																						uc001kxw.2		NA																	0					0						c.(445-447)AAG>ACG		hypothetical protein LOC80217							114.0	105.0	108.0					10																	105974155		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105974155T>G																												ENST00000278064.2:c.236A>C	10.37:g.105974155T>G	ENSP00000278064:p.Lys79Thr					C10orf79_uc001kxx.3_Missense_Mutation_p.K149T|C10orf79_uc001kxy.1_Missense_Mutation_p.K149T|C10orf79_uc001kxz.2_Missense_Mutation_p.K149T	p.K149T	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	4	562	-		Colorectal(252;0.178)	149			WD 1.			Missense_Mutation	SNP	ENST00000278064.2	37	c.446A>C		.	.	.	.	.	.	.	.	.	.	t	13.76	2.334103	0.41297	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720;ENST00000369719	T;T;T;T;T	0.68479	2.57;2.57;2.57;2.57;-0.33	5.99	2.02	0.26589	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.304265	0.23729	N	0.045153	T	0.52661	0.1748	L	0.43152	1.355	0.21861	N	0.999503	B;P;P	0.39424	0.197;0.673;0.469	B;B;B	0.36464	0.109;0.225;0.117	T	0.42430	-0.9452	10	0.40728	T	0.16	.	7.7944	0.29140	0.0:0.378:0.0:0.622	.	149;149;149	Q8NDM7-5;B4DHB6;Q8NDM7	.;.;WDR96_HUMAN	T	149;149;79;79;79	ENSP00000349568:K149T;ENSP00000400289:K149T;ENSP00000278064:K79T;ENSP00000358734:K79T;ENSP00000358733:K79T	ENSP00000278064:K79T	K	-	2	0	WDR96	105964145	0.909000	0.30893	0.993000	0.49108	0.874000	0.50279	0.920000	0.28705	0.525000	0.28522	-0.253000	0.11424	AAG		0.373	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1			42	56	0	0	0	0	42	56				
SORCS3	22986	broad.mit.edu	37	10	107022174	107022174	+	Missense_Mutation	SNP	G	G	A	rs140421862		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:107022174G>A	ENST00000369701.3	+	26	3756	c.3529G>A	c.(3529-3531)Gcc>Acc	p.A1177T		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1177					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AAGTGAAAACGCCCCCAAAAT	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18370	0.0		0.0	False		,,,				2504	0.0				NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	0				ovary(6)|skin(3)|central_nervous_system(1)	10						c.(3529-3531)GCC>ACC		VPS10 domain receptor protein SORCS 3 precursor		G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	90.0	72.0	78.0		3529	4.0	1.0	10	dbSNP_134	78	5,8595	3.7+/-12.6	0,5,4295	yes	missense	SORCS3	NM_014978.1	58	0,7,6496	AA,AG,GG		0.0581,0.0454,0.0538	benign	1177/1223	107022174	7,12999	2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107022174G>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3529G>A	10.37:g.107022174G>A	ENSP00000358715:p.Ala1177Thr						p.A1177T	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	26	3756	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1177			Cytoplasmic (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.3529G>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934433	0.34096	4.54E-4	5.81E-4	ENSG00000156395	ENST00000369701	T	0.13657	2.57	5.84	4.01	0.46588	.	0.299368	0.37483	N	0.002078	T	0.04634	0.0126	N	0.01188	-0.97	0.41404	D	0.987696	B	0.21753	0.06	B	0.17433	0.018	T	0.35450	-0.9788	9	.	.	.	.	12.7202	0.57137	0.1308:0.0:0.8692:0.0	.	1177	Q9UPU3	SORC3_HUMAN	T	1177	ENSP00000358715:A1177T	.	A	+	1	0	SORCS3	107012164	1.000000	0.71417	0.989000	0.46669	0.960000	0.62799	3.409000	0.52657	0.826000	0.34661	0.555000	0.69702	GCC		0.507	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		51	64	0	0	0	0	51	64				
SORCS1	114815	broad.mit.edu	37	10	108337272	108337272	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:108337272G>A	ENST00000263054.6	-	26	3420	c.3413C>T	c.(3412-3414)cCt>cTt	p.P1138L	SORCS1_ENST00000369698.1_3'UTR|SORCS1_ENST00000344440.6_Intron	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1138					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGAGTCACCAGGTTGAGTAGA	0.493																																						uc001kym.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(3412-3414)CCT>CTT		SORCS receptor 1 isoform a							94.0	93.0	93.0					10																	108337272		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108337272G>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3413C>T	10.37:g.108337272G>A	ENSP00000263054:p.Pro1138Leu					SORCS1_uc001kyl.2_Intron|SORCS1_uc009xxs.2_Intron|SORCS1_uc001kyn.1_3'UTR	p.P1138L	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	26	3421	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1138			Cytoplasmic (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.3413C>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.363984	0.41902	.	.	ENSG00000108018	ENST00000263054	T	0.15718	2.4	5.52	4.55	0.56014	.	.	.	.	.	T	0.11239	0.0274	N	0.22421	0.69	0.80722	D	1	B	0.30068	0.267	B	0.28139	0.086	T	0.15206	-1.0445	8	.	.	.	.	11.6767	0.51434	0.0:0.0:0.7313:0.2687	.	1138	Q8WY21	SORC1_HUMAN	L	1138	ENSP00000263054:P1138L	.	P	-	2	0	SORCS1	108327262	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.459000	0.35234	2.759000	0.94783	0.555000	0.69702	CCT		0.493	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		5	179	0	0	0	0	5	179				
EBF3	253738	broad.mit.edu	37	10	131640456	131640456	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:131640456C>T	ENST00000355311.5	-	13	1368	c.1296G>A	c.(1294-1296)acG>acA	p.T432T	EBF3_ENST00000368648.3_Silent_p.T423T|MIR4297_ENST00000579857.1_RNA			Q9H4W6	COE3_HUMAN	early B-cell factor 3	432					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T432T(1)|p.T423T(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCATCATGCCCGTGTGTGCAG	0.602																																						uc001lki.1		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(1267-1269)ACG>ACA		early B-cell factor 3							261.0	205.0	224.0					10																	131640456		2203	4300	6503	SO:0001819	synonymous_variant	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131640456C>T		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1296G>A	10.37:g.131640456C>T							p.T423T	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	13	1328	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	432					A0AUY1|Q5T6H9|Q9H4W5	Silent	SNP	ENST00000355311.5	37	c.1269G>A																																																																																					0.602	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		98	167	0	0	0	0	98	167				
DPYSL4	10570	broad.mit.edu	37	10	134004265	134004265	+	Silent	SNP	G	G	A	rs137897999		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:134004265G>A	ENST00000338492.4	+	2	218	c.54G>A	c.(52-54)ctG>ctA	p.L18L	DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368629.1_5'UTR|DPYSL4_ENST00000368627.1_5'Flank	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	18					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ACCGCCTTCTGATCAGAGGTG	0.438													G|||	1	0.000199681	0.0	0.0014	5008	,	,		23775	0.0		0.0	False		,,,				2504	0.0					uc009ybb.2		NA																	0				central_nervous_system(2)	2						c.(52-54)CTG>CTA		dihydropyrimidinase-like 4		G		0,4406		0,0,2203	140.0	115.0	124.0		54	0.4	1.0	10	dbSNP_134	124	1,8599		0,1,4299	no	coding-synonymous	DPYSL4	NM_006426.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		18/573	134004265	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134004265G>A	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.54G>A	10.37:g.134004265G>A							p.L18L	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	2	208	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	18					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Silent	SNP	ENST00000338492.4	37	c.54G>A	CCDS7665.1																																																																																				0.438	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			18	84	0	0	0	0	18	84				
OR52E4	390081	broad.mit.edu	37	11	5905675	5905675	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:5905675C>G	ENST00000316987.2	+	1	175	c.153C>G	c.(151-153)atC>atG	p.I51M		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTTGTGATCAAAACTGAAC	0.428																																						uc010qzs.1		NA																	0				ovary(2)	2						c.(151-153)ATC>ATG		olfactory receptor, family 52, subfamily E,							228.0	201.0	210.0					11																	5905675		2201	4296	6497	SO:0001583	missense	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5905675C>G	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.153C>G	11.37:g.5905675C>G	ENSP00000321426:p.Ile51Met					TRIM5_uc001mbq.1_Intron	p.I51M	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	153	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	51			Cytoplasmic (Potential).		Q6IFG0	Missense_Mutation	SNP	ENST00000316987.2	37	c.153C>G	CCDS31401.1	.	.	.	.	.	.	.	.	.	.	C	8.460	0.855075	0.17106	.	.	ENSG00000180974	ENST00000316987	T	0.08458	3.09	5.04	3.08	0.35506	GPCR, rhodopsin-like superfamily (1);	0.146929	0.31989	N	0.006757	T	0.37376	0.1001	H	0.97732	4.065	0.24665	N	0.993448	D	0.89917	1.0	D	0.74674	0.984	T	0.37384	-0.9708	10	0.87932	D	0	.	6.9721	0.24654	0.2934:0.6238:0.0:0.0828	.	51	Q8NGH9	O52E4_HUMAN	M	51	ENSP00000321426:I51M	ENSP00000321426:I51M	I	+	3	3	OR52E4	5862251	0.000000	0.05858	0.997000	0.53966	0.033000	0.12548	-1.919000	0.01572	1.346000	0.45694	0.643000	0.83706	ATC		0.428	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		82	290	0	0	0	0	82	290				
APBB1	322	broad.mit.edu	37	11	6414465	6414465	+	IGR	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:6414465C>G	ENST00000609360.1	-	0	2642				SMPD1_ENST00000356761.2_Intron|SMPD1_ENST00000527275.1_Missense_Mutation_p.L370V|APBB1_ENST00000526240.1_5'Flank|SMPD1_ENST00000299397.3_Intron|SMPD1_ENST00000342245.4_Missense_Mutation_p.L371V	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)						apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GTTCTATGCTCTTTCCCCATA	0.493																																					GBM(147;1810 2556 5672 39622)	uc001mcw.2		NA																	0					0	GRCh37	CD041946	SMPD1	D		c.(1111-1113)CTT>GTT		sphingomyelin phosphodiesterase 1, acid	Desipramine(DB01151)						70.0	77.0	75.0					11																	6414465		1906	4116	6022	SO:0001628	intergenic_variant	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6414465C>G	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213			11.37:g.6414465C>G						SMPD1_uc001mcv.1_RNA|SMPD1_uc009yex.2_Intron|SMPD1_uc001mcx.2_Intron|SMPD1_uc009yew.2_Missense_Mutation_p.L370V	p.L371V	NM_000543	NP_000534	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	3	1285	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	369					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1111C>G		.	.	.	.	.	.	.	.	.	.	C	1.573	-0.533532	0.04082	.	.	ENSG00000166311	ENST00000342245;ENST00000527275	D;D	0.93712	-3.27;-3.27	5.41	5.41	0.78517	Metallophosphoesterase domain (1);	0.089594	0.47852	D	0.000210	T	0.78648	0.4316	N	0.01152	-0.98	0.80722	D	1	B;B	0.28667	0.219;0.108	B;B	0.28991	0.095;0.097	T	0.79006	-0.1979	10	0.02654	T	1	-43.2756	12.9403	0.58340	0.0:0.7323:0.2677:0.0	.	370;369	E9PKS3;P17405	.;ASM_HUMAN	V	371;370	ENSP00000340409:L371V;ENSP00000435350:L370V	ENSP00000340409:L371V	L	+	1	0	SMPD1	6371041	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	2.783000	0.47766	2.557000	0.86248	0.561000	0.74099	CTT		0.493	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		10	58	0	0	0	0	10	58				
PTPMT1	114971	broad.mit.edu	37	11	47593175	47593175	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:47593175G>C	ENST00000326674.9	+	4	622	c.600G>C	c.(598-600)aaG>aaC	p.K200N	PTPMT1_ENST00000534775.1_3'UTR|NDUFS3_ENST00000533507.1_3'UTR|PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000426530.2_3'UTR|PTPMT1_ENST00000326656.8_Missense_Mutation_p.K136N	NM_175732.2	NP_783859.1	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	200					cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|inositol phosphate dephosphorylation (GO:0046855)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatidylglycerophosphatase activity (GO:0008962)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.K200N(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						TCATTTCAAAGACATGATGTA	0.453																																						uc001nfs.3		NA																	1	Substitution - Missense(1)		large_intestine(1)	skin(1)	1						c.(598-600)AAG>AAC		protein tyrosine phosphatase, mitochondrial 1							138.0	123.0	128.0					11																	47593175		1875	4114	5989	SO:0001583	missense	114971				inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:47593175G>C	BC014048	CCDS41643.1, CCDS44593.1	11p11.2	2011-06-09			ENSG00000110536	ENSG00000110536	3.1.3.36	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	26965	protein-coding gene	gene with protein product		609538				12477932	Standard	NM_175732		Approved	PLIP, DUSP23, MOSP	uc001nfs.4	Q8WUK0	OTTHUMG00000166892	ENST00000326674.9:c.600G>C	11.37:g.47593175G>C	ENSP00000325958:p.Lys200Asn					PTPMT1_uc001nfv.3_3'UTR|PTPMT1_uc009ylt.2_Missense_Mutation_p.K136N|PTPMT1_uc001nfu.3_3'UTR|NDUFS3_uc001nft.3_5'UTR	p.K200N	NM_175732	NP_783859	Q8WUK0	PTPM1_HUMAN			4	793	+			200					E9PAT8|Q7Z557|Q96CR2|Q9BXV8	Missense_Mutation	SNP	ENST00000326674.9	37	c.600G>C	CCDS41643.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145065	0.37825	.	.	ENSG00000110536	ENST00000326656;ENST00000326674	T	0.24538	1.85	5.69	-5.55	0.02536	.	.	.	.	.	T	0.09642	0.0237	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.32348	-0.9910	9	0.87932	D	0	-9.5848	2.3381	0.04252	0.4679:0.2273:0.1893:0.1155	.	136;200	Q8WUK0-2;Q8WUK0	.;PTPM1_HUMAN	N	136;200	ENSP00000325958:K200N	ENSP00000325882:K136N	K	+	3	2	PTPMT1	47549751	0.001000	0.12720	0.000000	0.03702	0.174000	0.22865	0.282000	0.18829	-0.402000	0.07633	-0.140000	0.14226	AAG		0.453	PTPMT1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391746.1	XM_374879		31	184	0	0	0	0	31	184				
OR4A47	403253	broad.mit.edu	37	11	48510955	48510955	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:48510955C>A	ENST00000446524.1	+	1	687	c.611C>A	c.(610-612)gCt>gAt	p.A204D		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GGAGGACTGGCTTGCACTATT	0.443																																						uc010rhx.1		NA																	0				ovary(1)|skin(1)	2						c.(610-612)GCT>GAT		olfactory receptor, family 4, subfamily A,							115.0	112.0	113.0					11																	48510955		2201	4298	6499	SO:0001583	missense	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510955C>A	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.611C>A	11.37:g.48510955C>A	ENSP00000412752:p.Ala204Asp						p.A204D	NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN			1	611	+			204			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000446524.1	37	c.611C>A	CCDS31490.1	.	.	.	.	.	.	.	.	.	.	N	12.60	1.985169	0.35036	.	.	ENSG00000237388	ENST00000446524	T	0.00152	8.66	4.59	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.225956	0.30840	N	0.008775	T	0.00109	0.0003	N	0.16833	0.445	0.09310	N	1	P	0.47962	0.903	P	0.44811	0.461	T	0.44483	-0.9325	10	0.87932	D	0	.	5.4944	0.16795	0.0:0.097:0.1754:0.7276	.	204	Q6IF82	O4A47_HUMAN	D	204	ENSP00000412752:A204D	ENSP00000412752:A204D	A	+	2	0	OR4A47	48467531	0.000000	0.05858	0.003000	0.11579	0.766000	0.43426	0.353000	0.20130	0.151000	0.19162	0.205000	0.17691	GCT		0.443	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		121	126	1	0	5.67e-43	6.37e-43	121	126				
OR8I2	120586	broad.mit.edu	37	11	55861087	55861087	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:55861087T>C	ENST00000302124.2	+	1	335	c.304T>C	c.(304-306)Tac>Cac	p.Y102H		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGTTCAAATGTACTTTTTTGT	0.398																																						uc010rix.1		NA																	0				breast(1)	1						c.(304-306)TAC>CAC		olfactory receptor, family 8, subfamily I,							143.0	132.0	136.0					11																	55861087		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861087T>C	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.304T>C	11.37:g.55861087T>C	ENSP00000303864:p.Tyr102His						p.Y102H	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	304	+	Esophageal squamous(21;0.00693)		102			Helical; Name=3; (Potential).		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.304T>C	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.580084	0.46006	.	.	ENSG00000172154	ENST00000302124	T	0.00482	7.1	4.5	4.5	0.54988	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36740	U	0.002430	T	0.00695	0.0023	L	0.43646	1.37	0.32213	N	0.576271	D	0.61080	0.989	P	0.59221	0.854	T	0.60994	-0.7152	10	0.48119	T	0.1	-13.5735	9.6125	0.39672	0.0:0.0879:0.0:0.912	.	102	Q8N0Y5	OR8I2_HUMAN	H	102	ENSP00000303864:Y102H	ENSP00000303864:Y102H	Y	+	1	0	OR8I2	55617663	0.079000	0.21365	0.973000	0.42090	0.314000	0.28054	2.224000	0.42945	1.803000	0.52742	0.362000	0.22060	TAC		0.398	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750		122	146	0	0	0	0	122	146				
TNKS1BP1	85456	broad.mit.edu	37	11	57069409	57069409	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:57069409C>T	ENST00000532437.1	-	8	5154	c.4843G>A	c.(4843-4845)Gca>Aca	p.A1615T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1615T			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1615	Arg/Glu/Lys-rich (charged).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ACCCGAGATGCCCGTGGCTCT	0.587																																						uc001njr.2		NA																	0				skin(1)	1						c.(4843-4845)GCA>ACA		tankyrase 1-binding protein 1							61.0	60.0	60.0					11																	57069409		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57069409C>T	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4843G>A	11.37:g.57069409C>T	ENSP00000437271:p.Ala1615Thr					TNKS1BP1_uc001njp.2_Missense_Mutation_p.A187T|TNKS1BP1_uc001njq.2_Missense_Mutation_p.A188T|TNKS1BP1_uc001njs.2_Missense_Mutation_p.A1615T	p.A1615T	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			8	5155	-		all_epithelial(135;0.21)	1615			Arg/Glu/Lys-rich (charged).		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.4843G>A	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.246049	0.22796	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.32515	1.45;1.45	4.94	0.74	0.18330	.	0.309579	0.25726	N	0.028704	T	0.19446	0.0467	L	0.41236	1.265	0.09310	N	0.999999	B;B	0.26483	0.15;0.004	B;B	0.23419	0.046;0.011	T	0.12243	-1.0555	10	0.44086	T	0.13	-3.3216	4.1627	0.10291	0.0:0.46:0.1669:0.3731	.	1615;197	Q9C0C2;Q86TK2	TB182_HUMAN;.	T	1615	ENSP00000350990:A1615T;ENSP00000437271:A1615T	ENSP00000350990:A1615T	A	-	1	0	TNKS1BP1	56825985	0.000000	0.05858	0.540000	0.28089	0.862000	0.49288	-0.328000	0.07945	0.158000	0.19367	-0.258000	0.10820	GCA		0.587	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		4	106	0	0	0	0	4	106				
MS4A1	931	broad.mit.edu	37	11	60234505	60234505	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:60234505G>A	ENST00000534668.1	+	6	936	c.647G>A	c.(646-648)tGg>tAg	p.W216*	MS4A1_ENST00000345732.4_Nonsense_Mutation_p.W216*|MS4A1_ENST00000528313.1_Nonsense_Mutation_p.W49*|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.W216*|MS4A1_ENST00000532073.1_Nonsense_Mutation_p.W203*	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	216					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	GAGAATGAATGGAAAAGAACG	0.433																																						uc001npp.2		NA																	0				ovary(3)|lung(2)	5						c.(646-648)TGG>TAG		membrane-spanning 4-domains, subfamily A, member	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						138.0	124.0	129.0					11																	60234505		2203	4300	6503	SO:0001587	stop_gained	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60234505G>A	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.647G>A	11.37:g.60234505G>A	ENSP00000433277:p.Trp216*					MS4A1_uc001npq.2_Nonsense_Mutation_p.W216*|MS4A1_uc009yna.2_Nonsense_Mutation_p.W216*|MS4A1_uc009ymz.2_Nonsense_Mutation_p.W203*|MS4A1_uc010rlc.1_Nonsense_Mutation_p.W49*	p.W216*	NM_152866	NP_690605	P11836	CD20_HUMAN			7	1063	+			216			Cytoplasmic (Potential).		A6NMS4|B4DT24|P08984|Q13963	Nonsense_Mutation	SNP	ENST00000534668.1	37	c.647G>A	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524786	0.85600	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	.	.	.	5.3	5.3	0.74995	.	0.793989	0.11770	N	0.531184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-31.5575	14.8028	0.69929	0.0:0.0:1.0:0.0	.	.	.	.	X	216;203;216;49;216	.	ENSP00000314620:W216X	W	+	2	0	MS4A1	59991081	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	4.431000	0.59915	2.650000	0.89964	0.655000	0.94253	TGG		0.433	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			4	151	0	0	0	0	4	151				
MTA2	9219	broad.mit.edu	37	11	62361854	62361854	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:62361854G>C	ENST00000278823.2	-	17	2107	c.1718C>G	c.(1717-1719)tCt>tGt	p.S573C	MTA2_ENST00000527204.1_Missense_Mutation_p.S400C|TUT1_ENST00000476907.1_5'Flank|MIR3654_ENST00000496634.2_5'Flank|MTA2_ENST00000524902.1_Missense_Mutation_p.S400C|TUT1_ENST00000308436.7_5'Flank	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	573					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TCCATTGGCAGAGAAAGGAAC	0.557																																						uc001ntq.1		NA																	0				ovary(1)|skin(1)	2						c.(1717-1719)TCT>TGT		metastasis-associated protein 2							68.0	63.0	65.0					11																	62361854		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62361854G>C	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1718C>G	11.37:g.62361854G>C	ENSP00000278823:p.Ser573Cys					TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Missense_Mutation_p.S400C	p.S573C	NM_004739	NP_004730	O94776	MTA2_HUMAN			17	2099	-			573					Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.1718C>G	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306545	0.40795	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.47528	1.43;0.84;0.84	5.67	5.67	0.87782	.	0.160156	0.56097	D	0.000021	T	0.45915	0.1366	L	0.44542	1.39	0.49213	D	0.999769	D	0.58620	0.983	B	0.43783	0.431	T	0.47169	-0.9138	10	0.54805	T	0.06	-23.0577	17.2786	0.87122	0.0:0.0:1.0:0.0	.	573	O94776	MTA2_HUMAN	C	573;400;400	ENSP00000278823:S573C;ENSP00000431346:S400C;ENSP00000431797:S400C	ENSP00000278823:S573C	S	-	2	0	MTA2	62118430	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	6.876000	0.75556	2.673000	0.90976	0.655000	0.94253	TCT		0.557	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		21	71	0	0	0	0	21	71				
MTA2	9219	broad.mit.edu	37	11	62362037	62362037	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:62362037G>A	ENST00000278823.2	-	16	2032	c.1643C>T	c.(1642-1644)tCc>tTc	p.S548F	MTA2_ENST00000527204.1_Missense_Mutation_p.S375F|TUT1_ENST00000476907.1_5'Flank|MTA2_ENST00000524902.1_Missense_Mutation_p.S375F|TUT1_ENST00000308436.7_5'Flank	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	548					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CCGGTTCTGGGACAGCTGGTT	0.527																																						uc001ntq.1		NA																	0				ovary(1)|skin(1)	2						c.(1642-1644)TCC>TTC		metastasis-associated protein 2							96.0	95.0	95.0					11																	62362037		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62362037G>A	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1643C>T	11.37:g.62362037G>A	ENSP00000278823:p.Ser548Phe					TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Missense_Mutation_p.S375F	p.S548F	NM_004739	NP_004730	O94776	MTA2_HUMAN			16	2024	-			548					Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.1643C>T	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432523	0.43224	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.47177	1.45;0.85;0.85	5.88	5.88	0.94601	.	0.187897	0.56097	D	0.000027	T	0.44767	0.1309	L	0.39898	1.24	0.41476	D	0.988138	B	0.26258	0.145	B	0.28011	0.085	T	0.35425	-0.9789	10	0.56958	D	0.05	-26.6532	17.7361	0.88394	0.0:0.0:1.0:0.0	.	548	O94776	MTA2_HUMAN	F	548;375;375	ENSP00000278823:S548F;ENSP00000431346:S375F;ENSP00000431797:S375F	ENSP00000278823:S548F	S	-	2	0	MTA2	62118613	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.878000	0.48515	2.782000	0.95742	0.655000	0.94253	TCC		0.527	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		30	124	0	0	0	0	30	124				
PYGM	5837	broad.mit.edu	37	11	64519902	64519902	+	Silent	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:64519902G>A	ENST00000164139.3	-	13	1991	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F	PYGM_ENST00000462303.1_5'Flank|PYGM_ENST00000377432.3_Silent_p.F443F	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	531					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CATCCCGAATGAAAGCTTCAT	0.577																																						uc001oax.3		NA																	0				ovary(2)	2						c.(1591-1593)TTC>TTT		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)						187.0	148.0	161.0					11																	64519902		2201	4297	6498	SO:0001819	synonymous_variant	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64519902G>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1593C>T	11.37:g.64519902G>A						PYGM_uc001oay.3_Silent_p.F443F	p.F531F	NM_005609	NP_005600	P11217	PYGM_HUMAN			13	2410	-			531					A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	c.1593C>T	CCDS8079.1																																																																																				0.577	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		14	83	0	0	0	0	14	83				
AIP	9049	broad.mit.edu	37	11	67257514	67257514	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:67257514G>C	ENST00000279146.3	+	4	592	c.474G>C	c.(472-474)gaG>gaC	p.E158D		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	158					negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|protein maturation by protein folding (GO:0022417)|protein targeting to mitochondrion (GO:0006626)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GAF domain binding (GO:0036004)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						TGCAGGTGGAGAGCCCTGGCA	0.647									Familial Isolated Pituitary Adenoma																													uc001olv.2		NA																	0					0						c.(472-474)GAG>GAC		aryl hydrocarbon receptor interacting protein							65.0	46.0	52.0					11																	67257514		2194	4287	6481	SO:0001583	missense	9049	Familial_Isolated_Pituitary_Adenoma_	Familial Cancer Database	FIPA, incl. Familial Isolated Somatotropinomas, FIS, IFS, Familial Acromegaly	protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding	g.chr11:67257514G>C	U31913	CCDS8168.1	11q13.3	2014-09-17	2001-11-29		ENSG00000110711	ENSG00000110711			358	protein-coding gene	gene with protein product		605555	"""aryl hydrocarbon receptor-interacting protein"""			8972861, 9111057	Standard	NM_003977		Approved	XAP2, ARA9, FKBP16	uc001olv.3	O00170	OTTHUMG00000167674	ENST00000279146.3:c.474G>C	11.37:g.67257514G>C	ENSP00000279146:p.Glu158Asp						p.E158D	NM_003977	NP_003968	O00170	AIP_HUMAN			4	599	+			158					A0SZW3|A0SZW4|A0SZW5|A0SZW6|Q2M3Q2|Q99606	Missense_Mutation	SNP	ENST00000279146.3	37	c.474G>C	CCDS8168.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697527	0.48307	.	.	ENSG00000110711	ENST00000528641;ENST00000279146	D;D	0.92348	-3.02;-2.96	5.54	4.62	0.57501	.	0.201793	0.43919	D	0.000508	D	0.87744	0.6254	L	0.52573	1.65	0.42632	D	0.993384	B	0.14012	0.009	B	0.17979	0.02	T	0.82204	-0.0573	10	0.29301	T	0.29	-44.2246	8.9496	0.35781	0.1653:0.0:0.8347:0.0	.	158	O00170	AIP_HUMAN	D	95;158	ENSP00000434982:E95D;ENSP00000279146:E158D	ENSP00000279146:E158D	E	+	3	2	AIP	67014090	0.999000	0.42202	1.000000	0.80357	0.983000	0.72400	2.235000	0.43044	2.601000	0.87937	0.561000	0.74099	GAG		0.647	AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395516.1			8	4	0	0	0	0	8	4				
FOLR4	390243	broad.mit.edu	37	11	94038883	94038883	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:94038883C>T	ENST00000440961.2	+	1	125	c.81C>T	c.(79-81)tgC>tgT	p.C27C		NM_001199206.1	NP_001186135.1	A6ND01	JUNO_HUMAN	folate receptor 4, delta (putative)	27					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TCAACATCTGCATGAATGCCA	0.587																																						uc010rud.1		NA																	0				ovary(1)	1						c.(79-81)TGC>TGT		folate receptor 4 (delta) homolog							74.0	78.0	77.0					11																	94038883		2089	4217	6306	SO:0001819	synonymous_variant	390243					extracellular region	folic acid binding|receptor activity	g.chr11:94038883C>T			11q14	2014-07-23	2012-12-07		ENSG00000183560	ENSG00000183560			32565	protein-coding gene	gene with protein product		615737	"""folate receptor 4 (delta) homolog (mouse)"""			11111049, 24739963	Standard	NM_001199206		Approved	Folbp3, JUNO	uc021qou.1	A6ND01		ENST00000440961.2:c.81C>T	11.37:g.94038883C>T							p.C27C	NM_001080486	NP_001073955	A6ND01	FOLR4_HUMAN			1	81	+			27						Silent	SNP	ENST00000440961.2	37	c.81C>T		.	.	.	.	.	.	.	.	.	.	C	1.043	-0.678243	0.03378	.	.	ENSG00000183560	ENST00000328458	.	.	.	4.55	3.63	0.41609	.	.	.	.	.	T	0.56093	0.1962	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52472	-0.8571	4	.	.	.	-4.8088	7.1274	0.25479	0.0:0.8013:0.0:0.1987	.	.	.	.	V	21	.	.	A	+	2	0	FOLR4	93678531	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	1.300000	0.33436	1.276000	0.44395	-0.258000	0.10820	GCA		0.587	FOLR4-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000396420.1	NM_001080486		63	65	0	0	0	0	63	65				
VPS11	55823	broad.mit.edu	37	11	118949887	118949887	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:118949887G>A	ENST00000300793.6	+	15	2354	c.2312G>A	c.(2311-2313)aGg>aAg	p.R771K	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	772					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TCCGTCATCAGGGACTACCTG	0.572																																						uc010ryx.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2314-2316)AGG>AAG		vacuolar protein sorting 11							38.0	41.0	40.0					11																	118949887		2108	4232	6340	SO:0001583	missense	55823				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding	g.chr11:118949887G>A	AB027508	CCDS73404.1	11q23	2008-02-05	2006-12-19			ENSG00000160695		"""RING-type (C3HC4) zinc fingers"""	14583	protein-coding gene	gene with protein product		608549	"""vacuolar protein sorting 11 (yeast homolog)"""				Standard	NM_021729		Approved	RNF108, PEP5	uc010ryx.2	Q9H270		ENST00000300793.6:c.2312G>A	11.37:g.118949887G>A	ENSP00000475301:p.Arg771Lys					VPS11_uc010ryy.1_Missense_Mutation_p.R618K	p.R772K	NM_021729	NP_068375	Q9H270	VPS11_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)	15	2357	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	772			Potential.		Q8WY89|Q96EP8|Q9H6D9|Q9HCS6	Missense_Mutation	SNP	ENST00000300793.6	37	c.2315G>A																																																																																					0.572	VPS11-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021729		8	34	0	0	0	0	8	34				
KCNA1	3736	broad.mit.edu	37	12	5021957	5021957	+	Silent	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:5021957C>G	ENST00000382545.3	+	2	2520	c.1413C>G	c.(1411-1413)gtC>gtG	p.V471V	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	471					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	ATAGACAGGTCAATATCAGAA	0.413																																						uc001qnh.2		NA																	0				ovary(1)|skin(1)	2						c.(1411-1413)GTC>GTG		potassium voltage-gated channel subfamily A	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						152.0	151.0	151.0					12																	5021957		2203	4300	6503	SO:0001819	synonymous_variant	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021957C>G	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1413C>G	12.37:g.5021957C>G							p.V471V	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			2	2518	+			471					A6NM83|Q3MIQ9	Silent	SNP	ENST00000382545.3	37	c.1413C>G	CCDS8535.1																																																																																				0.413	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		40	231	0	0	0	0	40	231				
ZNF384	171017	broad.mit.edu	37	12	6787551	6787551	+	Missense_Mutation	SNP	G	G	A	rs544703789		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:6787551G>A	ENST00000396801.3	-	6	635	c.428C>T	c.(427-429)tCg>tTg	p.S143L	ZNF384_ENST00000355772.4_Intron|ZNF384_ENST00000361959.3_Missense_Mutation_p.S143L|ZNF384_ENST00000319770.3_Missense_Mutation_p.S127L|ZNF384_ENST00000396799.2_Missense_Mutation_p.S143L|ZNF384_ENST00000396795.1_Missense_Mutation_p.S143L	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	143					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CATGGGAGCCGAAATGGGGAA	0.552			T	"""EWSR1, TAF15 """	ALL																																	uc010sfh.1		NA		Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	EWSR1|TAF15 		ALL	EWSR1/ZNF384(4)	0				haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8						c.(427-429)TCG>TTG		nuclear matrix transcription factor 4 isoform d							39.0	38.0	38.0					12																	6787551		2203	4300	6503	SO:0001583	missense	171017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6787551G>A	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.428C>T	12.37:g.6787551G>A	ENSP00000380019:p.Ser143Leu					ZNF384_uc001qpz.2_Missense_Mutation_p.S143L|ZNF384_uc001qqa.2_Missense_Mutation_p.S143L|ZNF384_uc001qqb.2_Missense_Mutation_p.S127L|ZNF384_uc001qqc.2_Missense_Mutation_p.S143L|ZNF384_uc001qqd.2_Intron|ZNF384_uc001qqe.2_Missense_Mutation_p.S127L|ZNF384_uc009zew.1_5'UTR	p.S143L	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN			6	636	-			143					O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	c.428C>T	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525793	0.64860	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000396799;ENST00000417772;ENST00000436774;ENST00000542796;ENST00000540915;ENST00000535485	T;T;T;T;T;T	0.08984	3.13;3.09;3.03;3.03;3.09;3.45	5.47	4.56	0.56223	.	0.147847	0.47455	D	0.000234	T	0.06234	0.0161	N	0.22421	0.69	0.43179	D	0.994999	D;P;P	0.60160	0.987;0.953;0.953	B;B;B	0.39119	0.291;0.149;0.273	T	0.24083	-1.0170	10	0.72032	D	0.01	-6.7121	12.9577	0.58441	0.0767:0.0:0.9233:0.0	.	143;127;143	Q8TF68;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.	L	127;143;143;143;143;143;127;127;143;127	ENSP00000321650:S127L;ENSP00000380013:S143L;ENSP00000380019:S143L;ENSP00000354592:S143L;ENSP00000380017:S143L;ENSP00000412911:S127L	ENSP00000321650:S127L	S	-	2	0	ZNF384	6657812	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.283000	0.72646	2.560000	0.86352	0.591000	0.81541	TCG		0.552	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			3	50	0	0	0	0	3	50				
TM7SF3	51768	broad.mit.edu	37	12	27148270	27148270	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:27148270T>C	ENST00000343028.4	-	5	815	c.590A>G	c.(589-591)tAt>tGt	p.Y197C	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	197						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					AAAATACTGATAGACATCATA	0.507																																						uc010sjl.1		NA																	0				upper_aerodigestive_tract(2)	2						c.(589-591)TAT>TGT		transmembrane 7 superfamily member 3 precursor							106.0	89.0	95.0					12																	27148270		2203	4300	6503	SO:0001583	missense	51768					integral to membrane|plasma membrane		g.chr12:27148270T>C	AB032470	CCDS8710.1	12q11-q12	2012-08-10			ENSG00000064115	ENSG00000064115			23049	protein-coding gene	gene with protein product		605181				10828615	Standard	NM_016551		Approved		uc010sjl.2	Q9NS93	OTTHUMG00000169243	ENST00000343028.4:c.590A>G	12.37:g.27148270T>C	ENSP00000342322:p.Tyr197Cys						p.Y197C	NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN			5	828	-	Colorectal(261;0.0847)		197					B3KMZ3|Q9NUS4	Missense_Mutation	SNP	ENST00000343028.4	37	c.590A>G	CCDS8710.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034713	0.75617	.	.	ENSG00000064115	ENST00000343028;ENST00000543803;ENST00000539741	T;T;T	0.69561	-0.29;-0.41;0.12	4.12	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.79941	0.4533	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.83326	-0.0015	10	0.87932	D	0	-13.4308	13.6274	0.62173	0.0:0.0:0.0:1.0	.	197	Q9NS93	TM7S3_HUMAN	C	197;95;75	ENSP00000342322:Y197C;ENSP00000442617:Y95C;ENSP00000441027:Y75C	ENSP00000342322:Y197C	Y	-	2	0	TM7SF3	27039537	1.000000	0.71417	0.967000	0.41034	0.984000	0.73092	5.084000	0.64462	1.878000	0.54408	0.528000	0.53228	TAT		0.507	TM7SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403033.1	NM_016551		49	59	0	0	0	0	49	59				
GPD1	2819	broad.mit.edu	37	12	50500210	50500210	+	Splice_Site	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:50500210G>C	ENST00000301149.3	+	4	731		c.e4+1		GPD1_ENST00000547190.1_Splice_Site|GPD1_ENST00000548814.1_Splice_Site	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)						cellular lipid metabolic process (GO:0044255)|cellular response to cAMP (GO:0071320)|cellular response to tumor necrosis factor (GO:0071356)|gluconeogenesis (GO:0006094)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophosphate shuttle (GO:0006127)|glycerophospholipid biosynthetic process (GO:0046474)|NADH oxidation (GO:0006116)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrion (GO:0005739)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|NAD binding (GO:0051287)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						ACAACCATTGGTGAGAGCCCC	0.567																																					NSCLC(141;1402 1905 9497 13391 44868)	uc001rvz.2		NA																	0					0						c.e4+1		glycerol-3-phosphate dehydrogenase 1 (soluble)	NADH(DB00157)						92.0	75.0	80.0					12																	50500210		2203	4300	6503	SO:0001630	splice_region_variant	2819				glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity	g.chr12:50500210G>C		CCDS8799.1, CCDS58229.1	12q13.12	2013-09-20			ENSG00000167588	ENSG00000167588	1.1.1.8		4455	protein-coding gene	gene with protein product		138420					Standard	NM_005276		Approved		uc001rvz.4	P21695	OTTHUMG00000169813	ENST00000301149.3:c.499+1G>C	12.37:g.50500210G>C						GPD1_uc001rwa.2_Splice_Site_p.G144_splice	p.G167_splice	NM_005276	NP_005267	P21695	GPDA_HUMAN			4	532	+								F8W1L5|Q8N1B0	Splice_Site	SNP	ENST00000301149.3	37	c.499_splice	CCDS8799.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406193	0.83230	.	.	ENSG00000167588	ENST00000301149;ENST00000547190;ENST00000548814	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8862	0.92379	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPD1	48786477	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.992000	0.88273	2.642000	0.89623	0.555000	0.69702	.		0.567	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406018.1		Intron	15	49	0	0	0	0	15	49				
KRT6C	286887	broad.mit.edu	37	12	52864386	52864386	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:52864386C>G	ENST00000252250.6	-	6	1153	c.1106G>C	c.(1105-1107)aGa>aCa	p.R369T		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	369	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GTCCCCATGTCTGCCTGCTGT	0.547																																						uc001sal.3		NA																	0				ovary(2)	2						c.(1105-1107)AGA>ACA		keratin 6C							105.0	87.0	93.0					12																	52864386		2202	4279	6481	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52864386C>G	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1106G>C	12.37:g.52864386C>G	ENSP00000252250:p.Arg369Thr						p.R369T	NM_173086	NP_775109	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	6	1154	-			369			Rod.|Coil 2.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.1106G>C	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699874	0.68501	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	T	0.75154	-0.91	3.5	3.5	0.40072	Filament (1);	0.000000	0.64402	D	0.000009	D	0.86569	0.5964	M	0.91038	3.17	0.35925	D	0.832131	D	0.67145	0.996	D	0.70487	0.969	D	0.90574	0.4524	10	0.87932	D	0	.	9.4348	0.38632	0.0:0.9:0.0:0.1	.	369	P48668	K2C6C_HUMAN	T	369;354	ENSP00000252250:R369T	ENSP00000252250:R369T	R	-	2	0	KRT6C	51150653	0.004000	0.15560	1.000000	0.80357	0.952000	0.60782	1.762000	0.38451	1.934000	0.56057	0.448000	0.29417	AGA		0.547	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		28	114	0	0	0	0	28	114				
KRT78	196374	broad.mit.edu	37	12	53240016	53240016	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:53240016C>T	ENST00000304620.4	-	4	784	c.721G>A	c.(721-723)Gag>Aag	p.E241K	KRT78_ENST00000359499.4_Missense_Mutation_p.E131K	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	241	Coil 1B.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TAGAGGTACTCTCTCAGAGCC	0.552																																						uc001sbc.1		NA																	0				ovary(2)	2						c.(721-723)GAG>AAG		keratin 5b							91.0	77.0	82.0					12																	53240016		2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53240016C>T	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.721G>A	12.37:g.53240016C>T	ENSP00000306261:p.Glu241Lys						p.E241K	NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN			4	785	-			241			Coil 1B.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.721G>A	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	C	9.127	1.010474	0.19277	.	.	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860;ENST00000547110	D;D;D	0.92149	-2.98;-2.98;-2.98	4.45	4.45	0.53987	Filament (1);	.	.	.	.	D	0.91788	0.7402	M	0.82517	2.595	0.09310	N	1	B	0.23128	0.08	B	0.23018	0.043	D	0.85052	0.0929	9	0.45353	T	0.12	.	11.4235	0.49996	0.0:0.8164:0.1836:0.0	.	241	Q8N1N4	K2C78_HUMAN	K	131;241;12;12	ENSP00000352479:E131K;ENSP00000306261:E241K;ENSP00000447817:E12K	ENSP00000306261:E241K	E	-	1	0	KRT78	51526283	0.523000	0.26274	0.004000	0.12327	0.050000	0.14768	3.783000	0.55409	2.408000	0.81797	0.456000	0.33151	GAG		0.552	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		19	66	0	0	0	0	19	66				
AVPR1A	552	broad.mit.edu	37	12	63541363	63541363	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:63541363G>T	ENST00000299178.2	-	2	1138	c.1033C>A	c.(1033-1035)Ccc>Acc	p.P345T		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	345					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	TATATCCAGGGATTACAGCAG	0.388																																						uc001sro.1		NA																	0					0						c.(1033-1035)CCC>ACC		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						148.0	143.0	145.0					12																	63541363		2203	4300	6503	SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63541363G>T	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.1033C>A	12.37:g.63541363G>T	ENSP00000299178:p.Pro345Thr						p.P345T	NM_000706	NP_000697	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	2	3007	-			345			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000299178.2	37	c.1033C>A	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686033	0.88639	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	D;D	0.98807	-5.15;-5.15	5.82	5.82	0.92795	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99477	0.9814	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98438	1.0585	9	.	.	.	-30.206	19.0835	0.93192	0.0:0.0:1.0:0.0	.	345	P37288	V1AR_HUMAN	T	126;345	ENSP00000449822:P126T;ENSP00000299178:P345T	.	P	-	1	0	AVPR1A	61827630	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	9.732000	0.98816	2.767000	0.95098	0.655000	0.94253	CCC		0.388	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			70	109	1	0	1.35e-36	1.5e-36	70	109				
DYRK2	8445	broad.mit.edu	37	12	68052255	68052255	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:68052255G>A	ENST00000344096.3	+	3	1981	c.1568G>A	c.(1567-1569)cGc>cAc	p.R523H	RP11-335O4.3_ENST00000425371.2_RNA|DYRK2_ENST00000393555.3_Missense_Mutation_p.R450H	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	523	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)	p.R523H(2)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		CCTGCAGTGCGCATGACCCCA	0.577																																						uc001str.3		NA																	2	Substitution - Missense(2)		urinary_tract(1)|kidney(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(1567-1569)CGC>CAC		dual-specificity tyrosine-(Y)-phosphorylation							71.0	76.0	74.0					12																	68052255		2203	4300	6503	SO:0001583	missense	8445				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:68052255G>A	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.1568G>A	12.37:g.68052255G>A	ENSP00000342105:p.Arg523His					DYRK2_uc001sts.3_Missense_Mutation_p.R450H	p.R523H	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)	3	1970	+			523			Protein kinase.		B2R9V9|Q9BRB5	Missense_Mutation	SNP	ENST00000344096.3	37	c.1568G>A	CCDS8978.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265171	0.80358	.	.	ENSG00000127334	ENST00000344096;ENST00000393555	T;T	0.71579	-0.58;-0.58	5.57	5.57	0.84162	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	0.85682	D	0.000000	D	0.91143	0.7211	H	0.98507	4.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93994	0.7269	9	.	.	.	.	19.9428	0.97171	0.0:0.0:1.0:0.0	.	523	Q92630	DYRK2_HUMAN	H	523;450	ENSP00000342105:R523H;ENSP00000377186:R450H	.	R	+	2	0	DYRK2	66338522	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	9.869000	0.99810	2.800000	0.96347	0.455000	0.32223	CGC		0.577	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			4	154	0	0	0	0	4	154				
ACSS3	79611	broad.mit.edu	37	12	81471976	81471976	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:81471976C>T	ENST00000548058.1	+	1	987	c.77C>T	c.(76-78)cCg>cTg	p.P26L	ACSS3_ENST00000261206.3_Missense_Mutation_p.P26L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	26						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGGTCCTCTCCGGCCCGGGGA	0.741																																						uc001szl.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(76-78)CCG>CTG		acyl-CoA synthetase short-chain family member 3							4.0	5.0	4.0					12																	81471976		2007	3974	5981	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81471976C>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.77C>T	12.37:g.81471976C>T	ENSP00000449535:p.Pro26Leu					ACSS3_uc001szm.1_Missense_Mutation_p.P26L	p.P26L	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			1	168	+			26					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.77C>T	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	9.753	1.168062	0.21621	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.25912	1.77;1.78	4.63	3.72	0.42706	.	1.455540	0.04450	N	0.372489	T	0.17874	0.0429	N	0.08118	0	0.29224	N	0.873755	B	0.20261	0.043	B	0.15052	0.012	T	0.22521	-1.0214	10	0.72032	D	0.01	0.1815	11.3249	0.49442	0.1825:0.8175:0.0:0.0	.	26	Q9H6R3	ACSS3_HUMAN	L	26	ENSP00000449535:P26L;ENSP00000261206:P26L	ENSP00000261206:P26L	P	+	2	0	ACSS3	79996107	0.001000	0.12720	0.001000	0.08648	0.136000	0.21042	1.365000	0.34182	1.136000	0.42199	0.563000	0.77884	CCG		0.741	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		7	9	0	0	0	0	7	9				
MED13L	23389	broad.mit.edu	37	12	116420250	116420250	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:116420250C>T	ENST00000281928.3	-	22	5320	c.5114G>A	c.(5113-5115)cGc>cAc	p.R1705H		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1705						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGTGTAGCAGCGCATCAAGCT	0.438																																						uc001tvw.2		NA																	0				skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(5113-5115)CGC>CAC		mediator complex subunit 13-like							109.0	101.0	104.0					12																	116420250		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116420250C>T	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5114G>A	12.37:g.116420250C>T	ENSP00000281928:p.Arg1705His						p.R1705H	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	22	5169	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1705					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.5114G>A	CCDS9177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.561688|5.561688	0.96527|0.96527	.|.	.|.	ENSG00000123066|ENSG00000123066	ENST00000549786|ENST00000281928;ENST00000552340	.|D;D	.|0.84800	.|-1.9;-1.9	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.92622|0.92622	0.7656|0.7656	M|M	0.74881|0.74881	2.28|2.28	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.92284|0.92284	0.5836|0.5836	5|10	.|0.62326	.|D	.|0.03	.|.	20.2147|20.2147	0.98293|0.98293	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1705	.|Q71F56	.|MD13L_HUMAN	T|H	160|1705;49	.|ENSP00000281928:R1705H;ENSP00000449876:R49H	.|ENSP00000281928:R1705H	A|R	-|-	1|2	0|0	MED13L|MED13L	114904633|114904633	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.487000|7.487000	0.81328|0.81328	2.785000|2.785000	0.95823|0.95823	0.591000|0.591000	0.81541|0.81541	GCT|CGC		0.438	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			55	82	0	0	0	0	55	82				
AACS	65985	broad.mit.edu	37	12	125621304	125621304	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:125621304G>A	ENST00000316519.6	+	17	1981	c.1775G>A	c.(1774-1776)gGg>gAg	p.G592E	AACS_ENST00000261686.6_Intron|AACS_ENST00000316543.10_Missense_Mutation_p.G190E|AACS_ENST00000543665.1_Intron|AACS_ENST00000545511.1_Intron	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	592					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ATGGCCTCCGGGCACGCCTTC	0.592																																						uc001uhc.2		NA																	0				ovary(1)|liver(1)|central_nervous_system(1)	3						c.(1774-1776)GGG>GAG		acetoacetyl-CoA synthetase							126.0	104.0	111.0					12																	125621304		2203	4300	6503	SO:0001583	missense	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125621304G>A	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.1775G>A	12.37:g.125621304G>A	ENSP00000324842:p.Gly592Glu					AACS_uc001uhd.2_Intron|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_Missense_Mutation_p.G190E	p.G592E	NM_023928	NP_076417	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	17	1981	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		592					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	c.1775G>A	CCDS9263.1	.	.	.	.	.	.	.	.	.	.	G	8.741	0.919080	0.17982	.	.	ENSG00000081760	ENST00000316519;ENST00000316543;ENST00000539251;ENST00000536118	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.3	4.17	0.49024	.	0.434585	0.28268	N	0.015963	T	0.17619	0.0423	M	0.78637	2.42	0.25778	N	0.984763	B	0.21225	0.053	B	0.25405	0.06	T	0.13255	-1.0516	10	0.72032	D	0.01	.	6.5976	0.22683	0.2918:0.0:0.7082:0.0	.	592	Q86V21	AACS_HUMAN	E	592;190;57;147	ENSP00000324842:G592E;ENSP00000324929:G190E;ENSP00000439151:G57E;ENSP00000441331:G147E	ENSP00000324842:G592E	G	+	2	0	AACS	124187257	1.000000	0.71417	0.117000	0.21633	0.035000	0.12851	4.012000	0.57131	2.633000	0.89246	0.561000	0.74099	GGG		0.592	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		72	82	0	0	0	0	72	82				
KLHL1	57626	broad.mit.edu	37	13	70413285	70413285	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr13:70413285C>T	ENST00000377844.4	-	6	1996	c.1237G>A	c.(1237-1239)Gac>Aac	p.D413N	KLHL1_ENST00000545028.1_Missense_Mutation_p.D220N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	413					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTTTCTAGGTCAGCCAATATC	0.299																																						uc001vip.2		NA																	0					0						c.(1237-1239)GAC>AAC		kelch-like 1 protein							94.0	92.0	92.0					13																	70413285		2202	4298	6500	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70413285C>T	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1237G>A	13.37:g.70413285C>T	ENSP00000367075:p.Asp413Asn					KLHL1_uc010thm.1_Missense_Mutation_p.D352N	p.D413N	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	6	2031	-		Breast(118;0.000162)	413					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1237G>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567359	0.86439	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.68331	-0.32;-0.32	5.23	5.23	0.72850	BTB/Kelch-associated (2);	0.399874	0.23836	N	0.044085	T	0.80602	0.4654	M	0.62154	1.92	0.58432	D	0.999997	D;B	0.89917	1.0;0.193	D;B	0.91635	0.999;0.147	T	0.79215	-0.1895	10	0.42905	T	0.14	.	19.1731	0.93588	0.0:1.0:0.0:0.0	.	413;413	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	N	413;220	ENSP00000367075:D413N;ENSP00000439602:D220N	ENSP00000367075:D413N	D	-	1	0	KLHL1	69311286	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.729000	0.84864	2.613000	0.88420	0.655000	0.94253	GAC		0.299	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		64	77	0	0	0	0	64	77				
OR11H6	122748	broad.mit.edu	37	14	20692282	20692282	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr14:20692282T>A	ENST00000315519.2	+	1	492	c.414T>A	c.(412-414)taT>taA	p.Y138*		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TTATGGCTTATGATCGGTACC	0.428																																						uc010tlc.1		NA																	0				ovary(2)|skin(1)	3						c.(412-414)TAT>TAA		olfactory receptor, family 11, subfamily H,							163.0	160.0	161.0					14																	20692282		2203	4300	6503	SO:0001587	stop_gained	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692282T>A		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.414T>A	14.37:g.20692282T>A	ENSP00000319071:p.Tyr138*						p.Y138*	NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	414	+	all_cancers(95;0.00108)		138			Helical; Name=3; (Potential).		Q6IF08	Nonsense_Mutation	SNP	ENST00000315519.2	37	c.414T>A	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.839739	0.91117	.	.	ENSG00000176219	ENST00000315519	.	.	.	4.97	3.79	0.43588	.	0.299857	0.24115	N	0.041405	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6303	0.22853	0.0:0.1876:0.0:0.8124	.	.	.	.	X	138	.	ENSP00000319071:Y138X	Y	+	3	2	OR11H6	19762122	0.000000	0.05858	1.000000	0.80357	0.937000	0.57800	-0.263000	0.08670	0.868000	0.35678	0.363000	0.22086	TAT		0.428	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			136	188	0	0	0	0	136	188				
CDH24	64403	broad.mit.edu	37	14	23524350	23524350	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr14:23524350G>C	ENST00000267383.5	-	2	506	c.414C>G	c.(412-414)atC>atG	p.I138M	CDH24_ENST00000487137.2_Missense_Mutation_p.I138M|CDH24_ENST00000554034.1_Missense_Mutation_p.I138M|CDH24_ENST00000397359.3_Missense_Mutation_p.I138M			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	138	Cadherin 1. {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)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTTGCACTTTGATGATGAACT	0.587											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wil.2		NA																	0				central_nervous_system(1)	1						c.(412-414)ATC>ATG		cadherin-like 24 isoform 1							85.0	89.0	88.0					14																	23524350		2203	4300	6503	SO:0001583	missense	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23524350G>C	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.414C>G	14.37:g.23524350G>C	ENSP00000267383:p.Ile138Met		OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	764	CDH24_uc010akf.2_Missense_Mutation_p.I138M|CDH24_uc001win.3_Missense_Mutation_p.I138M	p.I138M	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	3	674	-	all_cancers(95;3.3e-05)		138			Cadherin 1.|Extracellular (Potential).		D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.414C>G	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780796	0.49891	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000422751;ENST00000554034;ENST00000267383	T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41	3.72	2.82	0.32997	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.86239	0.5885	H	0.97390	3.995	0.47547	D	0.999458	D;P;D	0.76494	0.996;0.921;0.999	D;D;D	0.97110	0.999;0.99;1.0	D	0.89174	0.3539	10	0.87932	D	0	.	10.7279	0.46079	0.1047:0.0:0.8953:0.0	.	138;138;138	Q86UP0-2;Q96LQ7;Q86UP0	.;.;CAD24_HUMAN	M	138	ENSP00000380517:I138M;ENSP00000434821:I138M;ENSP00000452493:I138M;ENSP00000267383:I138M	ENSP00000267383:I138M	I	-	3	3	CDH24	22594190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.713000	0.25794	2.079000	0.62486	0.561000	0.74099	ATC		0.587	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		40	182	0	0	0	0	40	182				
TJP1	7082	broad.mit.edu	37	15	30019044	30019044	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr15:30019044G>A	ENST00000346128.6	-	17	2726	c.2252C>T	c.(2251-2253)gCc>gTc	p.A751V	TJP1_ENST00000400011.2_Missense_Mutation_p.A755V|TJP1_ENST00000356107.6_Missense_Mutation_p.A751V|RP11-680F8.4_ENST00000560740.1_RNA|TJP1_ENST00000545208.2_Missense_Mutation_p.A751V	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	751	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TAACTTCCTGGCACTTTTCCG	0.363																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.2		NA																	0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(2251-2253)GCC>GTC		tight junction protein 1 isoform a							164.0	146.0	152.0					15																	30019044		1846	4092	5938	SO:0001583	missense	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30019044G>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2252C>T	15.37:g.30019044G>A	ENSP00000281537:p.Ala751Val					TJP1_uc010azl.2_Missense_Mutation_p.A739V|TJP1_uc001zcq.2_Missense_Mutation_p.A755V|TJP1_uc001zcs.2_Missense_Mutation_p.A751V	p.A751V	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	17	2727	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	751			Guanylate kinase-like.		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	ENST00000346128.6	37	c.2252C>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066884	0.76301	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.82	5.82	0.92795	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.70903	2.155	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.971	D;D;D;P	0.97110	1.0;0.999;1.0;0.725	T	0.63225	-0.6685	9	.	.	.	.	20.1092	0.97906	0.0:0.0:1.0:0.0	.	744;751;751;755	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	V	751;755;751;751;751	ENSP00000281537:A751V;ENSP00000382890:A755V;ENSP00000441202:A751V;ENSP00000348416:A751V	.	A	-	2	0	TJP1	27806336	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	9.752000	0.98900	2.745000	0.94114	0.655000	0.94253	GCC		0.363	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		4	202	0	0	0	0	4	202				
CCPG1	9236	broad.mit.edu	37	15	55652461	55652461	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr15:55652461C>A	ENST00000310958.6	-	8	1808	c.1510G>T	c.(1510-1512)Gta>Tta	p.V504L	CCPG1_ENST00000569205.1_Missense_Mutation_p.V504L|CCPG1_ENST00000425574.3_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Missense_Mutation_p.V504L	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	504					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TGATGCCTTACAAACTCCTTG	0.363																																						uc002acv.1		NA																	0				ovary(1)	1						c.(1510-1512)GTA>TTA		cell cycle progression 1 isoform 2							175.0	166.0	169.0					15																	55652461		1798	4060	5858	SO:0001583	missense	9236				cell cycle	integral to membrane		g.chr15:55652461C>A	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.1510G>T	15.37:g.55652461C>A	ENSP00000311656:p.Val504Leu					CCPG1_uc002acy.2_Missense_Mutation_p.V504L|CCPG1_uc002acu.1_Missense_Mutation_p.V360L|CCPG1_uc002acw.1_Missense_Mutation_p.V229L|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Missense_Mutation_p.V504L|CCPG1_uc002acz.1_Missense_Mutation_p.V504L	p.V504L	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	8	1675	-			504			Lumenal (Potential).|Potential.		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	37	c.1510G>T	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.705250	0.68615	.	.	ENSG00000256061	ENST00000310958;ENST00000442196	T;T	0.35973	1.28;1.28	5.36	5.36	0.76844	.	0.055849	0.64402	D	0.000001	T	0.56615	0.1997	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.994;0.996;0.994;0.994	T	0.48305	-0.9047	10	0.26408	T	0.33	.	18.0652	0.89388	0.0:1.0:0.0:0.0	.	504;504;504;360	A8K9T0;Q9ULG6-4;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	L	504	ENSP00000311656:V504L;ENSP00000403400:V504L	ENSP00000311656:V504L	V	-	1	0	DYX1C1	53439753	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.395000	0.79876	2.532000	0.85374	0.591000	0.81541	GTA		0.363	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		184	205	1	0	4.05e-71	4.56e-71	184	205				
IQCH	64799	broad.mit.edu	37	15	67681204	67681204	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr15:67681204C>T	ENST00000335894.4	+	12	1558	c.1492C>T	c.(1492-1494)Cat>Tat	p.H498Y	IQCH_ENST00000360277.4_Missense_Mutation_p.H250Y|IQCH_ENST00000358767.3_Missense_Mutation_p.H325Y|IQCH_ENST00000546225.1_Missense_Mutation_p.H246Y	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	498										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CTGCTCCCATCATATGAATGA	0.408																																						uc002aqo.1		NA																	0				skin(3)|ovary(1)	4						c.(1492-1494)CAT>TAT		IQ motif containing H isoform 1							142.0	133.0	136.0					15																	67681204		2201	4299	6500	SO:0001583	missense	64799							g.chr15:67681204C>T	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1492C>T	15.37:g.67681204C>T	ENSP00000336861:p.His498Tyr					IQCH_uc002aqq.1_Missense_Mutation_p.H246Y|IQCH_uc002aqp.1_Missense_Mutation_p.H250Y	p.H498Y	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	12	1539	+			498					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.1492C>T	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797716	0.31777	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.44083	0.93;0.95;0.95;0.94	5.91	3.93	0.45458	.	0.944029	0.09013	N	0.861217	T	0.39306	0.1073	L	0.29908	0.895	0.09310	N	1	B;B;B	0.33288	0.001;0.001;0.406	B;B;B	0.39660	0.002;0.002;0.306	T	0.39623	-0.9605	10	0.56958	D	0.05	-11.534	11.3579	0.49625	0.0:0.4858:0.4389:0.0753	.	246;250;498	Q86VS3-2;Q86VS3-4;Q86VS3	.;.;IQCH_HUMAN	Y	325;246;498;250	ENSP00000351617:H325Y;ENSP00000444118:H246Y;ENSP00000336861:H498Y;ENSP00000353419:H250Y	ENSP00000336861:H498Y	H	+	1	0	IQCH	65468258	0.002000	0.14202	0.331000	0.25455	0.938000	0.57974	0.376000	0.20535	0.736000	0.32559	-0.345000	0.07892	CAT		0.408	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		6	166	0	0	0	0	6	166				
KIF7	374654	broad.mit.edu	37	15	90176982	90176982	+	Missense_Mutation	SNP	G	G	A	rs374366786		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr15:90176982G>A	ENST00000394412.3	-	12	2603	c.2527C>T	c.(2527-2529)Cgc>Tgc	p.R843C		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	843					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GTCTCCTCGCGAAGCCGCCTC	0.657																																						uc002bof.2		NA																	0				ovary(2)|lung(1)	3						c.(2527-2529)CGC>TGC		kinesin family member 7		G	CYS/ARG	0,4400		0,0,2200	30.0	30.0	30.0		2527	5.1	0.4	15		30	1,8597	1.2+/-3.3	0,1,4298	no	missense	KIF7	NM_198525.2	180	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	843/1344	90176982	1,12997	2200	4299	6499	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90176982G>A	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2527C>T	15.37:g.90176982G>A	ENSP00000377934:p.Arg843Cys					KIF7_uc010upw.1_Missense_Mutation_p.R329C	p.R843C	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		12	2604	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		843			Potential.		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.2527C>T	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511949	0.85389	0.0	1.16E-4	ENSG00000166813	ENST00000394412	T	0.40756	1.02	5.12	5.12	0.69794	.	0.052774	0.85682	D	0.000000	T	0.63593	0.2524	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.79108	0.992;0.869	T	0.67643	-0.5618	10	0.87932	D	0	.	13.5026	0.61467	0.0:0.0:0.8436:0.1564	.	329;843	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	C	843	ENSP00000377934:R843C	ENSP00000377934:R843C	R	-	1	0	KIF7	87977986	1.000000	0.71417	0.412000	0.26496	0.957000	0.61999	5.416000	0.66417	2.378000	0.81104	0.491000	0.48974	CGC		0.657	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		5	20	0	0	0	0	5	20				
LUC7L	55692	broad.mit.edu	37	16	240001	240001	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:240001G>A	ENST00000293872.8	-	9	1050	c.940C>T	c.(940-942)Cgt>Tgt	p.R314C	LUC7L_ENST00000337351.4_Missense_Mutation_p.R314C|LUC7L_ENST00000397780.1_Missense_Mutation_p.R261C|LUC7L_ENST00000397783.1_Missense_Mutation_p.R314C	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	314	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|negative regulation of striated muscle tissue development (GO:0045843)	U1 snRNP (GO:0005685)	identical protein binding (GO:0042802)|mRNA binding (GO:0003729)	p.R314C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GAAGCCCGACGATGTCCCCGG	0.607																																						uc002cgc.1		NA																	1	Substitution - Missense(1)		skin(1)	central_nervous_system(1)	1						c.(940-942)CGT>TGT		LUC7-like isoform b							237.0	234.0	235.0					16																	240001		2203	4300	6503	SO:0001583	missense	55692						metal ion binding	g.chr16:240001G>A	AY005111	CCDS10401.1, CCDS32348.1	16p13.3	2010-01-25	2001-11-28		ENSG00000007392	ENSG00000007392			6723	protein-coding gene	gene with protein product		607782	"""LUC7 (S. cerevisiae)-like"""				Standard	NM_201412		Approved	LUC7B1, hLuc7B1, Luc7	uc002cgc.1	Q9NQ29	OTTHUMG00000060730	ENST00000293872.8:c.940C>T	16.37:g.240001G>A	ENSP00000293872:p.Arg314Cys					LUC7L_uc002cga.1_Missense_Mutation_p.R314C|LUC7L_uc002cgd.1_RNA|LUC7L_uc002cge.1_Missense_Mutation_p.R314C|LUC7L_uc002cgb.1_Missense_Mutation_p.R228C	p.R314C	NM_201412	NP_958815	Q9NQ29	LUC7L_HUMAN			9	1051	-		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)	314			Arg/Ser-rich.		B8ZZ13|Q96S32|Q9NPH4	Missense_Mutation	SNP	ENST00000293872.8	37	c.940C>T	CCDS32348.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.14|19.14	3.769316|3.769316	0.69992|0.69992	.|.	.|.	ENSG00000007392|ENSG00000007392	ENST00000337351;ENST00000293872;ENST00000397783;ENST00000429378;ENST00000397780|ENST00000442701	T;T;T;T|.	0.50548|.	0.95;0.95;0.74;0.95|.	5.15|5.15	4.2|4.2	0.49525|0.49525	.|.	0.048062|.	0.85682|.	D|.	0.000000|.	T|T	0.70064|0.70064	0.3181|0.3181	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	B|.	0.09022|.	0.002|.	B|.	0.04013|.	0.001|.	T|T	0.69363|0.69363	-0.5165|-0.5165	10|5	0.87932|.	D|.	0|.	.|.	12.7275|12.7275	0.57178|0.57178	0.0797:0.0:0.9203:0.0|0.0797:0.0:0.9203:0.0	.|.	314|.	Q9NQ29|.	LUC7L_HUMAN|.	C|L	314;314;314;113;261|48	ENSP00000337507:R314C;ENSP00000380885:R314C;ENSP00000413033:R113C;ENSP00000380882:R261C|.	ENSP00000293872:R314C|.	R|S	-|-	1|2	0|0	LUC7L|LUC7L	180002|180002	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.115000|8.115000	0.89572|0.89572	1.175000|1.175000	0.42826|0.42826	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.607	LUC7L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134239.1			129	545	0	0	0	0	129	545				
ADCY9	115	broad.mit.edu	37	16	4164183	4164183	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:4164183C>T	ENST00000294016.3	-	2	1799	c.1261G>A	c.(1261-1263)Gat>Aat	p.D421N		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	421	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCGAACAGATCGTTCAGGAGA	0.552																																						uc002cvx.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1261-1263)GAT>AAT		adenylate cyclase 9							62.0	66.0	64.0					16																	4164183		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4164183C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1261G>A	16.37:g.4164183C>T	ENSP00000294016:p.Asp421Asn						p.D421N	NM_001116	NP_001107	O60503	ADCY9_HUMAN			2	1800	-			421			Cytoplasmic (Potential).|Guanylate cyclase 1.		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.1261G>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267949	0.80469	.	.	ENSG00000162104	ENST00000294016	D	0.81908	-1.55	5.39	5.39	0.77823	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.90027	0.6886	L	0.56396	1.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90578	0.4527	10	0.72032	D	0.01	.	19.2017	0.93713	0.0:1.0:0.0:0.0	.	421	O60503	ADCY9_HUMAN	N	421	ENSP00000294016:D421N	ENSP00000294016:D421N	D	-	1	0	ADCY9	4104184	1.000000	0.71417	0.327000	0.25402	0.974000	0.67602	7.818000	0.86416	2.552000	0.86080	0.555000	0.69702	GAT		0.552	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			28	135	0	0	0	0	28	135				
NMRAL1	57407	broad.mit.edu	37	16	4519402	4519402	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:4519402C>T	ENST00000574733.1	-	3	834	c.105G>A	c.(103-105)gtG>gtA	p.V35V	NMRAL1_ENST00000572391.1_Intron|NMRAL1_ENST00000574425.1_Silent_p.V35V|NMRAL1_ENST00000404295.3_Silent_p.V35V|NMRAL1_ENST00000283429.6_Silent_p.V35V			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	35						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						GGTTTCGGGTCACCACTCGAA	0.562																																						uc002cwm.2		NA																	0				kidney(1)	1						c.(103-105)GTG>GTA		NmrA-like family domain containing 1							279.0	227.0	244.0					16																	4519402		2197	4300	6497	SO:0001819	synonymous_variant	57407					nucleus|perinuclear region of cytoplasm	binding	g.chr16:4519402C>T	AF225419	CCDS10516.1	16p13.3	2013-10-11			ENSG00000153406	ENSG00000153406		"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	24987	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 48A, member 1"""					19027726	Standard	NM_020677		Approved	FLJ25918, HSCARG, SDR48A1	uc002cwo.3	Q9HBL8	OTTHUMG00000129468	ENST00000574733.1:c.105G>A	16.37:g.4519402C>T						NMRAL1_uc002cwn.2_Silent_p.V35V|NMRAL1_uc002cwo.2_Silent_p.V35V|NMRAL1_uc002cwp.2_Silent_p.V71V	p.V35V	NM_020677	NP_065728	Q9HBL8	NMRL1_HUMAN			3	261	-			35						Silent	SNP	ENST00000574733.1	37	c.105G>A	CCDS10516.1																																																																																				0.562	NMRAL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438579.1	NM_020677		150	328	0	0	0	0	150	328				
KIAA0556	23247	broad.mit.edu	37	16	27772758	27772758	+	Missense_Mutation	SNP	C	C	G	rs71389807		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:27772758C>G	ENST00000261588.4	+	19	3675	c.3656C>G	c.(3655-3657)tCc>tGc	p.S1219C		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1219						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TTCACTGCCTCCTGGGGAGAC	0.587																																						uc002dow.2		NA																	0				ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(3655-3657)TCC>TGC		hypothetical protein LOC23247							87.0	74.0	78.0					16																	27772758		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27772758C>G	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3656C>G	16.37:g.27772758C>G	ENSP00000261588:p.Ser1219Cys						p.S1219C	NM_015202	NP_056017	O60303	K0556_HUMAN			19	3680	+			1219					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.3656C>G	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611692	0.66558	.	.	ENSG00000047578	ENST00000261588	T	0.16073	2.37	4.56	4.56	0.56223	.	0.110122	0.64402	N	0.000015	T	0.19087	0.0458	L	0.48642	1.525	0.46499	D	0.99907	B	0.29988	0.264	B	0.28232	0.087	T	0.05550	-1.0878	10	0.87932	D	0	-18.8494	16.9555	0.86258	0.0:1.0:0.0:0.0	.	1219	O60303	K0556_HUMAN	C	1219	ENSP00000261588:S1219C	ENSP00000261588:S1219C	S	+	2	0	KIAA0556	27680259	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.948000	0.70249	2.086000	0.62901	0.561000	0.74099	TCC		0.587	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		24	140	0	0	0	0	24	140				
GDPD3	79153	broad.mit.edu	37	16	30122798	30122798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:30122798C>T	ENST00000406256.3	-	7	995	c.618G>A	c.(616-618)tgG>tgA	p.W206*	RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	206	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						AAAGCAGCACCCAGAATCCTC	0.557																																						uc002dwp.2		NA																	0					0						c.(616-618)TGG>TGA		glycerophosphodiester phosphodiesterase domain							134.0	136.0	135.0					16																	30122798		2197	4300	6497	SO:0001587	stop_gained	79153				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr16:30122798C>T	AK026256	CCDS10671.2	16p11.2	2008-02-05			ENSG00000102886	ENSG00000102886			28638	protein-coding gene	gene with protein product							Standard	NM_024307		Approved	MGC4171	uc002dwp.3	Q7L5L3	OTTHUMG00000132106	ENST00000406256.3:c.618G>A	16.37:g.30122798C>T	ENSP00000384363:p.Trp206*					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Nonsense_Mutation_p.W144*|LOC100271831_uc010vei.1_5'Flank	p.W206*	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN			7	697	-			206			Helical; (Potential).|GDPD.		Q9H652	Nonsense_Mutation	SNP	ENST00000406256.3	37	c.618G>A	CCDS10671.2	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925102	0.92319	.	.	ENSG00000102886	ENST00000406256;ENST00000360688	.	.	.	5.6	5.6	0.85130	.	0.502196	0.22510	N	0.059106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	15.107	0.72329	0.0:1.0:0.0:0.0	.	.	.	.	X	206;144	.	ENSP00000353909:W144X	W	-	3	0	GDPD3	30030299	0.673000	0.27539	0.434000	0.26772	0.024000	0.10985	1.771000	0.38542	2.615000	0.88500	0.655000	0.94253	TGG		0.557	GDPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255144.1	NM_024307		98	229	0	0	0	0	98	229				
C16orf78	123970	broad.mit.edu	37	16	49430524	49430524	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:49430524G>T	ENST00000299191.3	+	4	702	c.585G>T	c.(583-585)gaG>gaT	p.E195D		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	195						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GCCTCATGGAGAAAAGCACCG	0.547																																						uc002efr.2		NA																	0				central_nervous_system(1)	1						c.(583-585)GAG>GAT		hypothetical protein LOC123970							66.0	63.0	64.0					16																	49430524		2199	4300	6499	SO:0001583	missense	123970							g.chr16:49430524G>T	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.585G>T	16.37:g.49430524G>T	ENSP00000299191:p.Glu195Asp						p.E195D	NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN			4	628	+			195						Missense_Mutation	SNP	ENST00000299191.3	37	c.585G>T	CCDS10738.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.865346	0.51588	.	.	ENSG00000166152	ENST00000299191	T	0.58652	0.32	5.29	-2.07	0.07276	.	0.424731	0.20104	N	0.099169	T	0.45856	0.1363	M	0.67953	2.075	0.29284	N	0.869813	P	0.35507	0.506	B	0.38562	0.276	T	0.38993	-0.9635	9	.	.	.	-55.5536	0.3632	0.00367	0.2604:0.142:0.3067:0.2909	.	195	Q8WTQ4	CP078_HUMAN	D	195	ENSP00000299191:E195D	.	E	+	3	2	C16orf78	47988025	0.990000	0.36364	0.979000	0.43373	0.349000	0.29174	-0.121000	0.10643	0.009000	0.14813	0.655000	0.94253	GAG		0.547	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		21	32	1	0	7.45e-12	8.13e-12	21	32				
CES1	1066	broad.mit.edu	37	16	55846957	55846957	+	Splice_Site	SNP	T	T	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:55846957T>A	ENST00000361503.4	-	9	1073		c.e9-2		CES1_ENST00000360526.3_Splice_Site|CES1_ENST00000422046.2_Splice_Site			P23141	EST1_HUMAN	carboxylesterase 1						epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	GGGTTGACTCTGGGGAGAGAG	0.542																																					NSCLC(162;1801 2756 42904 52896)	uc002eim.2		NA																	0					0						c.e9-1		carboxylesterase 1 isoform b precursor	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						94.0	90.0	91.0					16																	55846957		2198	4300	6498	SO:0001630	splice_region_variant	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55846957T>A	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.943-2A>T	16.37:g.55846957T>A						CES1_uc010ccf.2_Intron|CES1_uc002eil.2_Splice_Site_p.S316_splice|CES1_uc002ein.2_Splice_Site_p.S315_splice	p.S315_splice	NM_001025194	NP_001020365	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	9	1051	-								A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Splice_Site	SNP	ENST00000361503.4	37	c.943_splice	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	t	11.15	1.554299	0.27739	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	.	.	.	3.85	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4112	0.38494	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CES1	54404458	1.000000	0.71417	0.297000	0.24988	0.015000	0.08874	3.007000	0.49536	1.554000	0.49487	0.374000	0.22700	.		0.542	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266	Intron	67	101	0	0	0	0	67	101				
HERPUD1	9709	broad.mit.edu	37	16	56977167	56977167	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:56977167C>G	ENST00000439977.2	+	8	1338	c.1141C>G	c.(1141-1143)Ctt>Gtt	p.L381V	HERPUD1_ENST00000344114.4_Missense_Mutation_p.L222V|HERPUD1_ENST00000379792.2_Missense_Mutation_p.L356V|HERPUD1_ENST00000570273.1_3'UTR|RP11-325K4.3_ENST00000565861.1_RNA|HERPUD1_ENST00000300302.5_Missense_Mutation_p.L380V|RP11-325K4.2_ENST00000570210.1_RNA	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	381					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CTTTGCCTCTCTTCTTCCAGA	0.532			T	ERG	prostate																																	uc002eke.1		NA		Dom	yes		16	16q12.2-q13	9709	T	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""			E	ERG		prostate		0					0						c.(1141-1143)CTT>GTT		homocysteine-inducible, endoplasmic reticulum							251.0	237.0	242.0					16																	56977167		2198	4300	6498	SO:0001583	missense	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56977167C>G	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.1141C>G	16.37:g.56977167C>G	ENSP00000409555:p.Leu381Val					HERPUD1_uc002ekf.1_Missense_Mutation_p.L380V|HERPUD1_uc002ekg.1_Missense_Mutation_p.L356V|HERPUD1_uc010cco.1_3'UTR|HERPUD1_uc010ccp.1_Missense_Mutation_p.L283V|HERPUD1_uc002ekh.1_Missense_Mutation_p.L199V	p.L381V	NM_014685	NP_055500	Q15011	HERP1_HUMAN			8	1550	+			381			Cytoplasmic (Potential).		E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	ENST00000439977.2	37	c.1141C>G	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879654	0.72294	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302;ENST00000344114	T;T;T	0.76839	-0.17;2.15;-1.05	5.33	5.33	0.75918	.	0.059485	0.64402	D	0.000002	D	0.87597	0.6217	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.996;0.996	D	0.87747	0.2589	10	0.51188	T	0.08	-0.0591	11.8075	0.52163	0.0:0.9199:0.0:0.0801	.	222;356;380;381	Q15011-3;E9PGD1;Q15011-2;Q15011	.;.;.;HERP1_HUMAN	V	380;356;381;222	ENSP00000369118:L356V;ENSP00000300302:L381V;ENSP00000340931:L222V	ENSP00000300302:L381V	L	+	1	0	HERPUD1	55534668	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	3.358000	0.52284	2.669000	0.90835	0.655000	0.94253	CTT		0.532	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			113	553	0	0	0	0	113	553				
ANKRD11	29123	broad.mit.edu	37	16	89348470	89348470	+	Missense_Mutation	SNP	G	G	A	rs534329317		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:89348470G>A	ENST00000301030.4	-	9	4940	c.4480C>T	c.(4480-4482)Cgg>Tgg	p.R1494W	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1494W	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1494	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGTGATGCCGCAGGAGCTCG	0.647																																						uc002fmx.1		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(4480-4482)CGG>TGG		ankyrin repeat domain 11							68.0	47.0	54.0					16																	89348470		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89348470G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4480C>T	16.37:g.89348470G>A	ENSP00000301030:p.Arg1494Trp					ANKRD11_uc002fmy.1_Missense_Mutation_p.R1494W|ANKRD11_uc002fnc.1_Missense_Mutation_p.R1494W|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.R1451W	p.R1494W	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	4941	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1494			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.4480C>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.296204	0.60086	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.44881	0.91;0.91	4.58	-3.09	0.05331	.	0.128466	0.47093	D	0.000244	T	0.21186	0.0510	N	0.08118	0	0.09310	N	1	B	0.26445	0.149	B	0.15484	0.013	T	0.06661	-1.0814	10	0.87932	D	0	.	15.9659	0.79970	0.0:0.0:0.6525:0.3475	.	1494	Q6UB99	ANR11_HUMAN	W	1494	ENSP00000301030:R1494W;ENSP00000367581:R1494W	ENSP00000301030:R1494W	R	-	1	2	ANKRD11	87875971	0.618000	0.27051	0.000000	0.03702	0.023000	0.10783	0.290000	0.18975	-0.853000	0.04136	0.563000	0.77884	CGG		0.647	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		21	68	0	0	0	0	21	68				
TAOK1	57551	broad.mit.edu	37	17	27837971	27837971	+	Silent	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:27837971G>A	ENST00000261716.3	+	15	2184	c.1665G>A	c.(1663-1665)caG>caA	p.Q555Q	TAOK1_ENST00000536202.1_Silent_p.Q555Q	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	555					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TCGAGTCCCAGAAAAGAGAGT	0.338																																						uc002hdz.1		NA																	0				upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1663-1665)CAG>CAA		TAO kinase 1							74.0	80.0	78.0					17																	27837971		2203	4297	6500	SO:0001819	synonymous_variant	57551				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	g.chr17:27837971G>A	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.1665G>A	17.37:g.27837971G>A						TAOK1_uc010wbe.1_Silent_p.Q555Q|TAOK1_uc010wbf.1_Silent_p.Q555Q|TAOK1_uc002heb.1_Silent_p.Q381Q	p.Q555Q	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Colorectal(6;0.198)		15	1859	+			555			Potential.		A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Silent	SNP	ENST00000261716.3	37	c.1665G>A	CCDS32601.1																																																																																				0.338	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447790.1	NM_020791		13	159	0	0	0	0	13	159				
ERBB2	2064	broad.mit.edu	37	17	37881982	37881982	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:37881982G>A	ENST00000269571.5	+	23	2907	c.2748G>A	c.(2746-2748)atG>atA	p.M916I	ERBB2_ENST00000445658.2_Missense_Mutation_p.M640I|ERBB2_ENST00000584450.1_Missense_Mutation_p.M916I|ERBB2_ENST00000584601.1_Missense_Mutation_p.M886I|ERBB2_ENST00000406381.2_Missense_Mutation_p.M886I|ERBB2_ENST00000541774.1_Missense_Mutation_p.M901I|ERBB2_ENST00000540147.1_Missense_Mutation_p.M886I|MIR4728_ENST00000580969.1_RNA			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	916	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GGGAGCTGATGACTTTTGGGG	0.602		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		0				lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(2746-2748)ATG>ATA		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						114.0	93.0	100.0					17																	37881982		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37881982G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2748G>A	17.37:g.37881982G>A	ENSP00000269571:p.Met916Ile	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.M886I|ERBB2_uc010cwa.2_Missense_Mutation_p.M901I|ERBB2_uc002hsp.2_Missense_Mutation_p.M719I|ERBB2_uc010cwb.2_Missense_Mutation_p.M916I|ERBB2_uc010wek.1_Missense_Mutation_p.M640I	p.M916I	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	23	2986	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	916			Cytoplasmic (Potential).|Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.2748G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295345	0.60086	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.81749	0.4888	N	0.11106	0.095	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.995	D;D;D	0.81914	0.964;0.995;0.974	D	0.85988	0.1487	9	0.87932	D	0	.	18.8505	0.92227	0.0:0.0:1.0:0.0	.	640;901;916	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	I	886;901;640;916;886	ENSP00000385185:M886I;ENSP00000446466:M901I;ENSP00000404047:M640I;ENSP00000269571:M916I;ENSP00000443562:M886I	ENSP00000269571:M916I	M	+	3	0	ERBB2	35135508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.549000	0.85964	0.563000	0.77884	ATG		0.602	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			7	110	0	0	0	0	7	110				
ERBB2	2064	broad.mit.edu	37	17	37882022	37882022	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:37882022G>A	ENST00000269571.5	+	23	2947	c.2788G>A	c.(2788-2790)Gag>Aag	p.E930K	ERBB2_ENST00000445658.2_Missense_Mutation_p.E654K|ERBB2_ENST00000584450.1_Missense_Mutation_p.E930K|ERBB2_ENST00000584601.1_Missense_Mutation_p.E900K|ERBB2_ENST00000406381.2_Missense_Mutation_p.E900K|ERBB2_ENST00000541774.1_Missense_Mutation_p.E915K|ERBB2_ENST00000540147.1_Missense_Mutation_p.E900K|MIR4728_ENST00000580969.1_RNA			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	930	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CCCAGCCCGGGAGATCCCTGA	0.592		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		0				lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(2788-2790)GAG>AAG		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						82.0	72.0	76.0					17																	37882022		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37882022G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2788G>A	17.37:g.37882022G>A	ENSP00000269571:p.Glu930Lys	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.E900K|ERBB2_uc010cwa.2_Missense_Mutation_p.E915K|ERBB2_uc002hsp.2_Missense_Mutation_p.E733K|ERBB2_uc010cwb.2_Missense_Mutation_p.E930K|ERBB2_uc010wek.1_Missense_Mutation_p.E654K	p.E930K	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	23	3026	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	930			Cytoplasmic (Potential).|Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.2788G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354596	0.61293	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.53	5.53	0.82687	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.88206	0.6374	L	0.43598	1.365	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.999	D;P;D	0.68039	0.955;0.66;0.955	D	0.89036	0.3445	9	0.87932	D	0	.	19.0665	0.93113	0.0:0.0:1.0:0.0	.	654;915;930	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	K	900;915;654;930;900	ENSP00000385185:E900K;ENSP00000446466:E915K;ENSP00000404047:E654K;ENSP00000269571:E930K;ENSP00000443562:E900K	ENSP00000269571:E930K	E	+	1	0	ERBB2	35135548	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.010000	0.88615	2.596000	0.87737	0.563000	0.77884	GAG		0.592	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			6	110	0	0	0	0	6	110				
ERBB2	2064	broad.mit.edu	37	17	37883578	37883578	+	Missense_Mutation	SNP	G	G	C	rs376450229		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:37883578G>C	ENST00000269571.5	+	26	3349	c.3190G>C	c.(3190-3192)Gag>Cag	p.E1064Q	ERBB2_ENST00000445658.2_Missense_Mutation_p.E788Q|ERBB2_ENST00000584450.1_Intron|ERBB2_ENST00000584601.1_Missense_Mutation_p.E1034Q|ERBB2_ENST00000406381.2_Missense_Mutation_p.E1034Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.E1049Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.E1034Q|MIR4728_ENST00000580969.1_RNA|MIEN1_ENST00000474210.1_5'Flank			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1064					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	ACTAGGGCTGGAGCCCTCTGA	0.612		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		0				lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.(3190-3192)GAG>CAG		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						32.0	37.0	36.0					17																	37883578		2203	4298	6501	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37883578G>C	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3190G>C	17.37:g.37883578G>C	ENSP00000269571:p.Glu1064Gln	TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Missense_Mutation_p.E1034Q|ERBB2_uc010cwa.2_Missense_Mutation_p.E1049Q|ERBB2_uc002hsp.2_Missense_Mutation_p.E867Q|ERBB2_uc010cwb.2_Intron|ERBB2_uc010wek.1_Missense_Mutation_p.E788Q	p.E1064Q	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	26	3428	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	1064			Cytoplasmic (Potential).		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.3190G>C	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494936	0.85069	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.76186	-1.0;-1.0;-0.99;-1.0;-1.0	5.41	5.41	0.78517	.	.	.	.	.	D	0.82637	0.5080	L	0.56769	1.78	0.80722	D	1	D;D;P	0.71674	0.998;0.985;0.932	D;P;P	0.78314	0.991;0.827;0.454	T	0.78043	-0.2358	9	0.16896	T	0.51	.	16.9622	0.86275	0.0:0.0:1.0:0.0	.	788;1049;1064	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	Q	1034;1049;788;1064;1034	ENSP00000385185:E1034Q;ENSP00000446466:E1049Q;ENSP00000404047:E788Q;ENSP00000269571:E1064Q;ENSP00000443562:E1034Q	ENSP00000269571:E1064Q	E	+	1	0	ERBB2	35137104	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.951000	0.49089	2.515000	0.84797	0.561000	0.74099	GAG		0.612	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			4	105	0	0	0	0	4	105				
PSMD3	5709	broad.mit.edu	37	17	38142913	38142913	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:38142913A>G	ENST00000264639.4	+	3	671	c.497A>G	c.(496-498)tAt>tGt	p.Y166C	PSMD3_ENST00000541736.1_Missense_Mutation_p.Y28C	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	166					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					GTGGAAGCCTATCTCCAACTC	0.537																																					Ovarian(186;531 2051 6385 19668 48409)	uc002htn.1		NA																	0				ovary(1)|pancreas(1)	2						c.(496-498)TAT>TGT		proteasome 26S non-ATPase subunit 3							170.0	155.0	160.0					17																	38142913		2203	4300	6503	SO:0001583	missense	5709				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding	g.chr17:38142913A>G	D67025	CCDS11356.1	17q21.2	2010-07-23			ENSG00000108344	ENSG00000108344		"""Proteasome (prosome, macropain) subunits"""	9560	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 2"""	TSTA2		9017604	Standard	NM_002809		Approved	S3, P58, Rpn3	uc002htn.2	O43242	OTTHUMG00000133251	ENST00000264639.4:c.497A>G	17.37:g.38142913A>G	ENSP00000264639:p.Tyr166Cys					PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Missense_Mutation_p.Y67C	p.Y166C	NM_002809	NP_002800	O43242	PSMD3_HUMAN			3	661	+	Colorectal(19;0.000442)		166					B3KMW9|B4DT72|Q96EI2|Q9BQA4	Missense_Mutation	SNP	ENST00000264639.4	37	c.497A>G	CCDS11356.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.069522	0.76301	.	.	ENSG00000108344	ENST00000264639;ENST00000415039;ENST00000541736	D;D	0.87334	-2.24;-2.24	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.93106	0.7805	M	0.77616	2.38	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.93983	0.7260	10	0.87932	D	0	-14.2215	15.0207	0.71630	1.0:0.0:0.0:0.0	.	166	O43242	PSMD3_HUMAN	C	166;153;28	ENSP00000264639:Y166C;ENSP00000442508:Y28C	ENSP00000264639:Y166C	Y	+	2	0	PSMD3	35396439	1.000000	0.71417	0.975000	0.42487	0.603000	0.37013	8.994000	0.93529	2.020000	0.59435	0.379000	0.24179	TAT		0.537	PSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257018.1	NM_002809		139	219	0	0	0	0	139	219				
RARA	5914	broad.mit.edu	37	17	38487504	38487504	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:38487504G>T	ENST00000254066.5	+	2	489	c.34G>T	c.(34-36)Ggg>Tgg	p.G12W	RARA_ENST00000394089.2_Missense_Mutation_p.G12W|RARA_ENST00000425707.3_Missense_Mutation_p.G12W	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	12	Modulating.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CCCGACACCTGGGGGCGGGCA	0.662			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL																																	uc002huk.1		NA		Dom	yes		17	17q12	5914	T	"""retinoic acid receptor, alpha"""			L	PML|ZNF145|TIF1|NUMA1|NPM1		APL		0				ovary(1)|lung(1)|breast(1)	3						c.(34-36)GGG>TGG		retinoic acid receptor, alpha isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)						47.0	47.0	47.0					17																	38487504		2202	4300	6502	SO:0001583	missense	5914				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr17:38487504G>T	X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.34G>T	17.37:g.38487504G>T	ENSP00000254066:p.Gly12Trp					RARA_uc002hul.3_Missense_Mutation_p.G12W|RARA_uc010wfe.1_Missense_Mutation_p.G12W	p.G12W	NM_000964	NP_000955	P10276	RARA_HUMAN	STAD - Stomach adenocarcinoma(5;0.00143)		2	489	+		Breast(137;0.00328)	12			Modulating.		B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	ENST00000254066.5	37	c.34G>T	CCDS11366.1	.	.	.	.	.	.	.	.	.	.	g	11.51	1.659182	0.29515	.	.	ENSG00000131759	ENST00000254066;ENST00000425707;ENST00000394089	D;D;D	0.94417	-3.15;-3.42;-3.15	5.43	5.43	0.79202	.	.	.	.	.	D	0.95306	0.8477	L	0.48642	1.525	0.80722	D	1	D;D	0.63046	0.992;0.986	P;P	0.57204	0.815;0.748	D	0.95677	0.8729	9	0.72032	D	0.01	.	18.0208	0.89253	0.0:0.0:1.0:0.0	.	12;12	B8Y636;P10276	.;RARA_HUMAN	W	12	ENSP00000254066:G12W;ENSP00000389993:G12W;ENSP00000377649:G12W	ENSP00000254066:G12W	G	+	1	0	RARA	35741030	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.345000	0.72995	2.550000	0.86006	0.651000	0.88453	GGG		0.662	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2			23	122	1	0	3.29e-13	3.6e-13	23	122				
ATP6V0A1	535	broad.mit.edu	37	17	40665994	40665994	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:40665994C>T	ENST00000343619.4	+	20	2369	c.2246C>T	c.(2245-2247)gCg>gTg	p.A749V	MIR5010_ENST00000582846.1_RNA|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.A749V|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.A750V|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.A743V|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.A706V|RP11-400F19.18_ENST00000591237.1_RNA|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.A395V|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.A700V	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	749					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTCGCTCATGCGCGTGAGTAC	0.582																																						uc002hzr.2		NA																	0				pancreas(1)	1						c.(2245-2247)GCG>GTG		ATPase, H+ transporting, lysosomal V0 subunit a1							148.0	130.0	136.0					17																	40665994		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40665994C>T	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.2246C>T	17.37:g.40665994C>T	ENSP00000342951:p.Ala749Val					ATP6V0A1_uc002hzq.2_Missense_Mutation_p.A743V|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.A750V|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.A706V|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.A700V|ATP6V0A1_uc010cyg.2_Missense_Mutation_p.A395V|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.A608V|ATP6V0A1_uc002hzt.2_Missense_Mutation_p.A33V	p.A749V	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	20	2413	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	749			Helical; (Potential).		B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.2246C>T	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265379	0.95399	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	4.92	4.92	0.64577	.	0.052484	0.85682	D	0.000000	D	0.95300	0.8475	H	0.94423	3.535	0.80722	D	1	D;D;D;D;D	0.71674	0.995;0.998;0.99;0.983;0.994	P;D;D;P;P	0.68621	0.869;0.959;0.932;0.685;0.793	D	0.96516	0.9382	10	0.87932	D	0	-13.2547	18.3035	0.90172	0.0:1.0:0.0:0.0	.	700;706;750;749;743	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	V	749;749;743;750;700;395	ENSP00000342951:A749V;ENSP00000444676:A749V;ENSP00000377415:A743V;ENSP00000264649:A750V;ENSP00000443991:A700V;ENSP00000446377:A395V	ENSP00000264649:A750V	A	+	2	0	ATP6V0A1	37919520	1.000000	0.71417	0.787000	0.31911	0.683000	0.39861	7.651000	0.83577	2.556000	0.86216	0.561000	0.74099	GCG		0.582	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020		4	235	0	0	0	0	4	235				
HLF	3131	broad.mit.edu	37	17	53345376	53345376	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:53345376G>A	ENST00000226067.5	+	2	853	c.380G>A	c.(379-381)aGc>aAc	p.S127N	HLF_ENST00000430986.2_Missense_Mutation_p.S42N|HLF_ENST00000575345.1_Missense_Mutation_p.S42N|HLF_ENST00000573945.1_Missense_Mutation_p.S42N	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	127					multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(2)	3						ATGGACCTCAGCAGCCGGGCC	0.617			T	TCF3	ALL																																	uc002iug.1		NA		Dom	yes		17	17q22	3131	T	hepatic leukemia factor			L	TCF3		ALL		0				ovary(2)	2						c.(379-381)AGC>AAC		hepatic leukemia factor							68.0	72.0	71.0					17																	53345376		2203	4300	6503	SO:0001583	missense	3131				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:53345376G>A		CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.380G>A	17.37:g.53345376G>A	ENSP00000226067:p.Ser127Asn					HLF_uc010dce.1_Missense_Mutation_p.S42N|HLF_uc002iuh.2_Missense_Mutation_p.S42N|HLF_uc010wni.1_Missense_Mutation_p.A76T	p.S127N	NM_002126	NP_002117	Q16534	HLF_HUMAN			2	905	+			127					A8K1X8|Q6FHS9	Missense_Mutation	SNP	ENST00000226067.5	37	c.380G>A	CCDS11585.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.084112	0.76642	.	.	ENSG00000108924	ENST00000226067;ENST00000430986	.	.	.	5.94	5.94	0.96194	.	0.091679	0.64402	D	0.000001	T	0.52645	0.1747	N	0.24115	0.695	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.43507	-0.9387	9	0.49607	T	0.09	.	19.3401	0.94337	0.0:0.0:1.0:0.0	.	127	Q16534	HLF_HUMAN	N	127;42	.	ENSP00000226067:S127N	S	+	2	0	HLF	50700375	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.636000	0.83301	2.803000	0.96430	0.655000	0.94253	AGC		0.617	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1	NM_002126		49	205	0	0	0	0	49	205				
PSMC5	5705	broad.mit.edu	37	17	61901558	61901558	+	5'Flank	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:61901558G>C	ENST00000310144.6	+	0	0				FTSJ3_ENST00000580295.1_5'Flank|FTSJ3_ENST00000427159.2_Nonsense_Mutation_p.S347*	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TCCAGCTGTTGAGTCCTCCTC	0.537																																						uc002jbz.2		NA																	0				ovary(1)	1						c.(1039-1041)TCA>TGA		FtsJ homolog 3							147.0	150.0	149.0					17																	61901558		2203	4300	6503	SO:0001631	upstream_gene_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61901558G>C	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61901558G>C	Exception_encountered					FTSJ3_uc002jca.2_Nonsense_Mutation_p.S347*	p.S347*	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN			11	1118	-			347					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Nonsense_Mutation	SNP	ENST00000310144.6	37	c.1040C>G	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	G	37	6.077626	0.97262	.	.	ENSG00000108592	ENST00000427159	.	.	.	5.38	2.25	0.28309	.	1.505870	0.03561	N	0.227107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	1.696	3.571	0.07917	0.0908:0.1666:0.5703:0.1724	.	.	.	.	X	347	.	ENSP00000396673:S347X	S	-	2	0	FTSJ3	59255290	0.145000	0.22656	0.009000	0.14445	0.187000	0.23431	2.297000	0.43593	1.515000	0.48885	0.643000	0.83706	TCA		0.537	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		17	374	0	0	0	0	17	374				
PSMC5	5705	broad.mit.edu	37	17	61902698	61902698	+	5'Flank	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:61902698G>A	ENST00000310144.6	+	0	0				PSMC5_ENST00000580864.1_5'Flank|PSMC5_ENST00000581882.1_5'Flank|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000375812.4_5'Flank|FTSJ3_ENST00000427159.2_Silent_p.L167L	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						ATCCATAGCAGAGGCTGATAG	0.532																																						uc002jbz.2		NA																	0				ovary(1)	1						c.(499-501)CTG>TTG		FtsJ homolog 3							72.0	73.0	72.0					17																	61902698		2203	4300	6503	SO:0001631	upstream_gene_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61902698G>A	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61902698G>A	Exception_encountered					FTSJ3_uc002jca.2_Silent_p.L167L|PSMC5_uc002jcb.2_5'Flank|PSMC5_uc010ddy.2_5'Flank|PSMC5_uc010ddz.2_5'Flank|PSMC5_uc002jcc.2_5'Flank|PSMC5_uc002jcd.2_5'Flank	p.L167L	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN			6	577	-			167					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Silent	SNP	ENST00000310144.6	37	c.499C>T	CCDS11645.1																																																																																				0.532	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		7	113	0	0	0	0	7	113				
HID1	283987	broad.mit.edu	37	17	72955992	72955992	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:72955992C>T	ENST00000425042.2	-	8	1069	c.992G>A	c.(991-993)cGc>cAc	p.R331H	HID1_ENST00000532900.1_5'Flank	NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	331					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											ACGATGGATGCGGGACAGGTA	0.627																																						uc002jmj.3		NA																	0					0						c.(991-993)CGC>CAC		hypothetical protein LOC283987							123.0	116.0	118.0					17																	72955992		2203	4300	6503	SO:0001583	missense	283987					integral to membrane|plasma membrane	protein binding	g.chr17:72955992C>T		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.992G>A	17.37:g.72955992C>T	ENSP00000413520:p.Arg331His					C17orf28_uc010wrs.1_Missense_Mutation_p.R130H|C17orf28_uc002jmk.2_Missense_Mutation_p.R330H	p.R331H	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN			8	1141	-	all_lung(278;0.151)|Lung NSC(278;0.185)		331					Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	c.992G>A	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063968	0.76187	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565;ENST00000530857	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.82995	0.5158	M	0.82132	2.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.994	D	0.85696	0.1310	9	0.72032	D	0.01	-21.0115	17.9002	0.88901	0.0:1.0:0.0:0.0	.	330;331	Q8IV36-2;Q8IV36	.;CQ028_HUMAN	H	103;331;103;223	.	ENSP00000317795:R103H	R	-	2	0	C17orf28	70467587	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	5.974000	0.70465	2.291000	0.77112	0.561000	0.74099	CGC		0.627	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		5	316	0	0	0	0	5	316				
EPB41L3	23136	broad.mit.edu	37	18	5478351	5478351	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr18:5478351T>A	ENST00000341928.2	-	3	610	c.270A>T	c.(268-270)aaA>aaT	p.K90N	EPB41L3_ENST00000342933.3_Missense_Mutation_p.K90N|RP11-286N3.1_ENST00000577527.1_RNA|EPB41L3_ENST00000540638.2_Missense_Mutation_p.K90N|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K90N|EPB41L3_ENST00000400111.3_Missense_Mutation_p.K90N	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	90					apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGCTAGATGATTTCTGAGAAA	0.413																																						uc002kmt.1		NA																	0				ovary(5)	5						c.(268-270)AAA>AAT		erythrocyte membrane protein band 4.1-like 3							179.0	162.0	168.0					18																	5478351		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5478351T>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.270A>T	18.37:g.5478351T>A	ENSP00000343158:p.Lys90Asn					EPB41L3_uc010wzh.1_Missense_Mutation_p.K90N|EPB41L3_uc002kmu.1_Missense_Mutation_p.K90N|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Missense_Mutation_p.K112N|EPB41L3_uc002kmv.1_5'UTR	p.K90N	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			3	356	-			90					B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.270A>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	T	16.39	3.109824	0.56398	.	.	ENSG00000082397	ENST00000341928;ENST00000544123;ENST00000342933;ENST00000400111;ENST00000542652	D;D;D;D	0.83419	-1.55;-1.68;-1.55;-1.72	5.27	1.44	0.22558	.	0.571798	0.17969	N	0.155937	D	0.83478	0.5263	M	0.72894	2.215	0.80722	D	1	P;P;P;B	0.45176	0.852;0.589;0.675;0.418	P;B;B;B	0.47891	0.56;0.288;0.372;0.102	T	0.80511	-0.1350	10	0.62326	D	0.03	.	9.338	0.38062	0.0:0.2048:0.0:0.7952	.	90;90;90;90	F5GX05;Q9Y2J2-3;Q9Y2J2-2;Q9Y2J2	.;.;.;E41L3_HUMAN	N	90;90;90;90;171	ENSP00000343158:K90N;ENSP00000441174:K90N;ENSP00000341138:K90N;ENSP00000382981:K90N	ENSP00000343158:K90N	K	-	3	2	EPB41L3	5468351	1.000000	0.71417	0.981000	0.43875	0.980000	0.70556	0.754000	0.26390	0.003000	0.14656	-0.290000	0.09829	AAA		0.413	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		53	111	0	0	0	0	53	111				
LRRC30	339291	broad.mit.edu	37	18	7231916	7231916	+	Silent	SNP	C	C	T	rs570090261		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr18:7231916C>T	ENST00000383467.2	+	1	794	c.780C>T	c.(778-780)atC>atT	p.I260I		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	260										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGGTGAGGATCGCCTGGAATC	0.587																																						uc010wzk.1		NA																	0				ovary(1)|liver(1)	2						c.(778-780)ATC>ATT		leucine rich repeat containing 30																																				SO:0001819	synonymous_variant	339291							g.chr18:7231916C>T		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.780C>T	18.37:g.7231916C>T							p.I260I	NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN			1	780	+			260						Silent	SNP	ENST00000383467.2	37	c.780C>T	CCDS42409.1																																																																																				0.587	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		184	224	0	0	0	0	184	224				
CDH19	28513	broad.mit.edu	37	18	64178822	64178822	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr18:64178822G>C	ENST00000262150.2	-	10	1851	c.1559C>G	c.(1558-1560)aCa>aGa	p.T520R	CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	1788	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATCTATGATTGTAAAACTTGA	0.308																																						uc002lkc.1		NA																	0				ovary(1)|skin(1)	2						c.(1558-1560)ACA>AGA		cadherin 19, type 2 preproprotein							78.0	78.0	78.0					18																	64178822		2203	4296	6499	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64178822G>C	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1559C>G	18.37:g.64178822G>C	ENSP00000262150:p.Thr520Arg					CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Intron	p.T520R	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			10	1697	-		Esophageal squamous(42;0.0132)	520			Cadherin 5.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000262150.2	37	c.1559C>G	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	G	2.714	-0.268192	0.05716	.	.	ENSG00000071991	ENST00000262150	T	0.50277	0.75	5.03	-4.28	0.03732	Cadherin (4);Cadherin-like (1);	0.829740	0.11094	N	0.600444	T	0.50854	0.1640	M	0.83384	2.64	0.09310	N	1	B	0.16603	0.018	B	0.27380	0.079	T	0.57046	-0.7878	10	0.87932	D	0	.	13.1273	0.59363	0.5952:0.0:0.4048:0.0	.	520	Q9H159	CAD19_HUMAN	R	520	ENSP00000262150:T520R	ENSP00000262150:T520R	T	-	2	0	CDH19	62329802	0.122000	0.22280	0.000000	0.03702	0.321000	0.28281	0.642000	0.24735	-0.825000	0.04290	0.585000	0.79938	ACA		0.308	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1	NM_021153		35	37	0	0	0	0	35	37				
UHRF1	29128	broad.mit.edu	37	19	4932906	4932907	+	RNA	DNP	GG	GG	AC			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:4932906_4932907GG>AC	ENST00000592666.1	+	0	1299_1300				MIR4747_ENST00000584057.1_RNA			Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GGTACGACGCGGAGATCTCCAG	0.653																																						uc002mbo.2		NA																	0				lung(2)	2						c.(721-726)GCGGAG>GCACAG		ubiquitin-like with PHD and ring finger domains																																						29128				cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:4932906_4932907GG>AC	AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88		Exception_encountered	19.37:g.4932906_4932907delinsAC						UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.E255Q	p.E242Q	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)	5	891_892	+			242					A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	Missense_Mutation	DNP	ENST00000592666.1	37	c.723_724GG>AC																																																																																					0.653	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201		18	50	0	0	0	0	18	50				
ZNF358	140467	broad.mit.edu	37	19	7584188	7584188	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:7584188A>T	ENST00000597229.1	+	2	230	c.60A>T	c.(58-60)gaA>gaT	p.E20D	CTD-2207O23.12_ENST00000599312.1_3'UTR|ZNF358_ENST00000394341.2_Missense_Mutation_p.E20D|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	20					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CCGTTTATGAAGAGCTCGACT	0.582																																						uc002mgn.2		NA																	0				central_nervous_system(1)	1						c.(58-60)GAA>GAT		zinc finger protein 358							59.0	67.0	64.0					19																	7584188		2168	4286	6454	SO:0001583	missense	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7584188A>T	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.60A>T	19.37:g.7584188A>T	ENSP00000472305:p.Glu20Asp						p.E20D	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN			2	230	+			20					Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	37	c.60A>T	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	A	8.723	0.914838	0.17907	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.07444	3.19	4.53	-0.352	0.12598	.	.	.	.	.	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47995	-0.9073	9	0.13853	T	0.58	-0.4107	5.1101	0.14804	0.4494:0.3681:0.1825:0.0	.	20	Q9NW07	ZN358_HUMAN	D	20	ENSP00000377873:E20D	ENSP00000354703:E20D	E	+	3	2	ZNF358	7490188	0.000000	0.05858	0.005000	0.12908	0.170000	0.22686	-0.950000	0.03889	-0.019000	0.14055	0.456000	0.33151	GAA		0.582	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			81	100	0	0	0	0	81	100				
ZNF317	57693	broad.mit.edu	37	19	9271903	9271903	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:9271903A>T	ENST00000247956.6	+	7	1887	c.1582A>T	c.(1582-1584)Aaa>Taa	p.K528*	ZNF317_ENST00000360385.3_Nonsense_Mutation_p.K496*	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	528					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(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CACGGGGGAGAAACCGTACGA	0.557																																						uc002mku.2		NA																	0					0						c.(1582-1584)AAA>TAA		zinc finger protein 317							96.0	78.0	84.0					19																	9271903		2203	4300	6503	SO:0001587	stop_gained	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9271903A>T	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1582A>T	19.37:g.9271903A>T	ENSP00000247956:p.Lys528*					ZNF317_uc002mkv.2_Nonsense_Mutation_p.K387*|ZNF317_uc002mkw.2_Nonsense_Mutation_p.K496*|ZNF317_uc002mkx.2_Nonsense_Mutation_p.K443*|ZNF317_uc002mky.2_Nonsense_Mutation_p.K411*	p.K528*	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN			7	1857	+			528					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Nonsense_Mutation	SNP	ENST00000247956.6	37	c.1582A>T	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	A	38	7.152716	0.98099	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	.	.	.	2.72	2.72	0.32119	.	0.000000	0.44483	D	0.000447	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-31.3546	7.2844	0.26330	1.0:0.0:0.0:0.0	.	.	.	.	X	528;496	.	ENSP00000247956:K528X	K	+	1	0	ZNF317	9132903	0.460000	0.25776	0.994000	0.49952	0.756000	0.42949	1.109000	0.31135	1.502000	0.48669	0.482000	0.46254	AAA		0.557	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		14	62	0	0	0	0	14	62				
ZNF676	163223	broad.mit.edu	37	19	22363091	22363091	+	Silent	SNP	A	A	G	rs572667334		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:22363091A>G	ENST00000397121.2	-	3	1745	c.1428T>C	c.(1426-1428)ccT>ccC	p.P476P		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	476					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)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CACATTTGTAAGGTTTCTCTG	0.388													a|||	1	0.000199681	0.0	0.0014	5008	,	,		23389	0.0		0.0	False		,,,				2504	0.0					uc002nqs.1		NA																	0					0						c.(1426-1428)CCT>CCC		zinc finger protein 676							106.0	111.0	110.0					19																	22363091		2150	4271	6421	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363091A>G	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1428T>C	19.37:g.22363091A>G							p.P476P	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1746	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	476					A8MVX5	Silent	SNP	ENST00000397121.2	37	c.1428T>C	CCDS42539.1																																																																																				0.388	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		38	151	0	0	0	0	38	151				
ZNF676	163223	broad.mit.edu	37	19	22363101	22363101	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:22363101G>C	ENST00000397121.2	-	3	1735	c.1418C>G	c.(1417-1419)gCa>gGa	p.A473G		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	473					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)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGGTTTCTCTGCAGCATGAAT	0.388																																						uc002nqs.1		NA																	0					0						c.(1417-1419)GCA>GGA		zinc finger protein 676							113.0	118.0	116.0					19																	22363101		2144	4273	6417	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363101G>C	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1418C>G	19.37:g.22363101G>C	ENSP00000380310:p.Ala473Gly						p.A473G	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1736	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	473					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.1418C>G	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-4.057787	0.00002	.	.	ENSG00000196109	ENST00000397121	T	0.11385	2.78	0.81	-1.62	0.08372	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01730	0.0055	N	0.00278	-1.715	0.22531	N	0.999018	B	0.06786	0.001	B	0.10450	0.005	T	0.35748	-0.9776	9	0.02654	T	1	.	4.2099	0.10507	0.2484:0.4908:0.2607:0.0	.	473	Q8N7Q3	ZN676_HUMAN	G	473	ENSP00000380310:A473G	ENSP00000380310:A473G	A	-	2	0	ZNF676	22154941	0.001000	0.12720	0.011000	0.14972	0.011000	0.07611	0.015000	0.13355	-1.206000	0.02641	-1.207000	0.01640	GCA		0.388	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		22	159	0	0	0	0	22	159				
ZNF790	388536	broad.mit.edu	37	19	37309350	37309350	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:37309350G>T	ENST00000356725.4	-	5	2016	c.1896C>A	c.(1894-1896)ttC>ttA	p.F632L	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	632					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)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAGTGAAATGAAGTGAGAGC	0.308																																						uc002oew.2		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(1894-1896)TTC>TTA		zinc finger protein 790							35.0	39.0	37.0					19																	37309350		2201	4294	6495	SO:0001583	missense	388536				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37309350G>T	BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1896C>A	19.37:g.37309350G>T	ENSP00000349161:p.Phe632Leu					uc002oev.1_Intron	p.F632L	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		5	2015	-	Esophageal squamous(110;0.183)		632						Missense_Mutation	SNP	ENST00000356725.4	37	c.1896C>A	CCDS12496.1	.	.	.	.	.	.	.	.	.	.	G	0.875	-0.730812	0.03135	.	.	ENSG00000197863	ENST00000356725	T	0.04454	3.62	2.69	-1.84	0.07809	.	.	.	.	.	T	0.01222	0.0040	N	0.02169	-0.655	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45716	-0.9242	9	0.02654	T	1	.	0.6784	0.00870	0.2603:0.3661:0.1656:0.208	.	632	Q6PG37	ZN790_HUMAN	L	632	ENSP00000349161:F632L	ENSP00000349161:F632L	F	-	3	2	ZNF790	42001190	0.005000	0.15991	0.023000	0.16930	0.631000	0.37964	0.649000	0.24843	-0.167000	0.10871	-0.469000	0.05056	TTC		0.308	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385341.2	NM_206894		4	95	1	0	0.00024832	0.00026197	4	95				
ZNF570	148268	broad.mit.edu	37	19	37974837	37974837	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:37974837G>C	ENST00000330173.1	+	5	842	c.313G>C	c.(313-315)Gaa>Caa	p.E105Q	ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000586475.1_Missense_Mutation_p.E161Q	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTTATGAAGAACATCAATC	0.363																																						uc002ogk.1		NA																	0				ovary(1)	1						c.(313-315)GAA>CAA		zinc finger protein 570							94.0	101.0	99.0					19																	37974837		2203	4300	6503	SO:0001583	missense	148268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37974837G>C	AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.313G>C	19.37:g.37974837G>C	ENSP00000331540:p.Glu105Gln					ZNF570_uc010efl.1_Missense_Mutation_p.E161Q|ZNF570_uc010xtr.1_5'UTR	p.E105Q	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	842	+			105					A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	37	c.313G>C	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	G	5.405	0.259942	0.10239	.	.	ENSG00000171827	ENST00000330173	T	0.05199	3.48	4.96	1.59	0.23543	.	2.614030	0.02116	N	0.055182	T	0.06050	0.0157	L	0.28192	0.835	0.09310	N	0.999998	B	0.24721	0.11	B	0.28011	0.085	T	0.38045	-0.9679	10	0.22706	T	0.39	.	5.0886	0.14696	0.1894:0.1728:0.6379:0.0	.	105	Q96NI8	ZN570_HUMAN	Q	105	ENSP00000331540:E105Q	ENSP00000331540:E105Q	E	+	1	0	ZNF570	42666677	0.000000	0.05858	0.023000	0.16930	0.444000	0.32077	0.161000	0.16481	0.669000	0.31146	0.557000	0.71058	GAA		0.363	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694		36	157	0	0	0	0	36	157				
PRPF31	26121	broad.mit.edu	37	19	54621975	54621975	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:54621975T>C	ENST00000321030.4	+	3	549	c.200T>C	c.(199-201)aTt>aCt	p.I67T	PRPF31_ENST00000419967.1_Missense_Mutation_p.I67T|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000391755.1_Missense_Mutation_p.I67T|TFPT_ENST00000391759.1_5'Flank	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	67					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ATGATGAAGATTGAGGAGTAT	0.512																																						uc002qdh.2		NA																	0				ovary(1)	1						c.(199-201)ATT>ACT		pre-mRNA processing factor 31 homolog							161.0	156.0	157.0					19																	54621975		2203	4300	6503	SO:0001583	missense	26121				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	g.chr19:54621975T>C	AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"""PRP31 pre-mRNA processing factor 31 homolog (yeast)"", ""PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"""	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.200T>C	19.37:g.54621975T>C	ENSP00000324122:p.Ile67Thr					TFPT_uc010yej.1_5'Flank|TFPT_uc010erd.2_5'Flank|PRPF31_uc010yek.1_Missense_Mutation_p.I67T	p.I67T	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN			3	596	+	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67					Q17RB4|Q8N7F9|Q9H271|Q9Y439	Missense_Mutation	SNP	ENST00000321030.4	37	c.200T>C	CCDS12879.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.503779	0.85176	.	.	ENSG00000105618	ENST00000321030;ENST00000445811;ENST00000263436;ENST00000419967;ENST00000445124;ENST00000447810;ENST00000391755	D;D;D;D;D;D	0.93426	-1.64;-3.21;-1.65;-3.21;-3.22;-3.18	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.95974	0.8689	M	0.79614	2.46	0.58432	D	0.999999	D;D	0.67145	0.996;0.996	D;D	0.63877	0.913;0.919	D	0.96459	0.9340	10	0.87932	D	0	-15.8677	13.9511	0.64118	0.0:0.0:0.0:1.0	.	67;67	E7ESA8;Q8WWY3	.;PRP31_HUMAN	T	67	ENSP00000324122:I67T;ENSP00000395894:I67T;ENSP00000405166:I67T;ENSP00000408980:I67T;ENSP00000395089:I67T;ENSP00000375635:I67T	ENSP00000263436:I67T	I	+	2	0	PRPF31	59313787	1.000000	0.71417	0.987000	0.45799	0.999000	0.98932	6.668000	0.74457	1.997000	0.58415	0.533000	0.62120	ATT		0.512	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2			40	215	0	0	0	0	40	215				
NLRP9	338321	broad.mit.edu	37	19	56241286	56241286	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:56241286T>G	ENST00000332836.2	-	3	1932	c.1905A>C	c.(1903-1905)ttA>ttC	p.L635F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	635						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTTCCATGTCTAAAATCTGGA	0.423																																						uc002qly.2		NA																	0				skin(4)|ovary(2)|breast(1)	7						c.(1903-1905)TTA>TTC		NLR family, pyrin domain containing 9							104.0	102.0	103.0					19																	56241286		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56241286T>G	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1905A>C	19.37:g.56241286T>G	ENSP00000331857:p.Leu635Phe						p.L635F	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	3	1933	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	635					B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.1905A>C	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	t	8.499	0.863768	0.17250	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	T	0.78481	-1.18	3.4	-6.8	0.01709	.	.	.	.	.	T	0.75810	0.3900	M	0.85777	2.775	0.09310	N	1	P	0.45594	0.862	B	0.43360	0.417	T	0.70230	-0.4929	9	0.72032	D	0.01	.	6.5253	0.22297	0.1304:0.2493:0.0:0.6203	.	635	Q7RTR0	NALP9_HUMAN	F	635	ENSP00000331857:L635F	ENSP00000331857:L635F	L	-	3	2	NLRP9	60933098	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.681000	0.00837	-1.680000	0.01450	-0.283000	0.09986	TTA		0.423	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		50	83	0	0	0	0	50	83				
APOB	338	broad.mit.edu	37	2	21231200	21231200	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:21231200C>A	ENST00000233242.1	-	26	8667	c.8540G>T	c.(8539-8541)gGa>gTa	p.G2847V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2847					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATAGCATTTCCAAAAAACAG	0.413																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(8539-8541)GGA>GTA		apolipoprotein B precursor	Atorvastatin(DB01076)						145.0	152.0	150.0					2																	21231200		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231200C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8540G>T	2.37:g.21231200C>A	ENSP00000233242:p.Gly2847Val						p.G2847V	NM_000384	NP_000375	P04114	APOB_HUMAN			26	8668	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2847					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.8540G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006554	0.35415	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00816	5.66	5.36	0.0412	0.14212	.	0.992451	0.08179	N	0.985808	T	0.02193	0.0068	M	0.71581	2.175	0.21527	N	0.999651	P	0.49635	0.926	P	0.47744	0.556	T	0.46331	-0.9199	10	0.72032	D	0.01	.	7.3336	0.26596	0.0:0.5737:0.2238:0.2025	.	2847	P04114	APOB_HUMAN	V	2847	ENSP00000233242:G2847V	ENSP00000233242:G2847V	G	-	2	0	APOB	21084705	0.000000	0.05858	0.002000	0.10522	0.763000	0.43281	0.984000	0.29565	0.237000	0.21200	-0.266000	0.10368	GGA		0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			61	271	1	0	5.86e-21	6.5e-21	61	271				
EHD3	30845	broad.mit.edu	37	2	31483527	31483527	+	Silent	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:31483527G>C	ENST00000322054.5	+	4	939	c.654G>C	c.(652-654)ctG>ctC	p.L218L	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	218	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GAGTGGTGCTGAACAAAGCTG	0.547																																						uc002rnu.2		NA																	0				skin(2)	2						c.(652-654)CTG>CTC		EH-domain containing 3							101.0	90.0	94.0					2																	31483527		2203	4300	6503	SO:0001819	synonymous_variant	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31483527G>C	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.654G>C	2.37:g.31483527G>C						EHD3_uc010ymt.1_Intron	p.L218L	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			4	1262	+	Acute lymphoblastic leukemia(172;0.155)		218			Potential.		B4DFR5|D6W574|Q8N514|Q9NZB3	Silent	SNP	ENST00000322054.5	37	c.654G>C	CCDS1774.1																																																																																				0.547	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600		18	59	0	0	0	0	18	59				
BIRC6	57448	broad.mit.edu	37	2	32701366	32701366	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:32701366A>G	ENST00000421745.2	+	34	6940	c.6806A>G	c.(6805-6807)tAt>tGt	p.Y2269C		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2269					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGATCATCATATAAACTCCTG	0.318																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(6805-6807)TAT>TGT		baculoviral IAP repeat-containing 6							81.0	71.0	74.0					2																	32701366		2201	4292	6493	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32701366A>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.6806A>G	2.37:g.32701366A>G	ENSP00000393596:p.Tyr2269Cys						p.Y2269C	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			34	6940	+	Acute lymphoblastic leukemia(172;0.155)		2269					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.6806A>G	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	23.3	4.397250	0.83120	.	.	ENSG00000115760	ENST00000421745	T	0.74737	-0.87	5.93	5.93	0.95920	.	0.072248	0.64402	D	0.000020	D	0.83445	0.5256	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.83643	0.0151	10	0.49607	T	0.09	.	16.3766	0.83401	1.0:0.0:0.0:0.0	.	2269	Q9NR09	BIRC6_HUMAN	C	2269	ENSP00000393596:Y2269C	ENSP00000393596:Y2269C	Y	+	2	0	BIRC6	32554870	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.207000	0.95064	2.263000	0.75096	0.533000	0.62120	TAT		0.318	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		3	6	0	0	0	0	3	6				
MAP4K3	8491	broad.mit.edu	37	2	39517434	39517434	+	Splice_Site	SNP	T	T	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:39517434T>A	ENST00000263881.3	-	19	1637	c.1313A>T	c.(1312-1314)aAg>aTg	p.K438M	MAP4K3_ENST00000474502.1_5'Flank|MAP4K3_ENST00000536018.1_De_novo_Start_InFrame|MAP4K3_ENST00000437545.1_Splice_Site_p.K354M|MAP4K3_ENST00000341681.5_Splice_Site_p.K417M	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	438					intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TCTGTCTACCTTTGGTGGCAA	0.303																																						uc002rro.2		NA																	0				ovary(3)|lung(3)|stomach(1)|pancreas(1)	8						c.(1312-1314)AAG>ATG		mitogen-activated protein kinase kinase kinase							74.0	78.0	76.0					2																	39517434		2203	4298	6501	SO:0001630	splice_region_variant	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39517434T>A	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.1314+1A>T	2.37:g.39517434T>A						MAP4K3_uc002rrp.2_Missense_Mutation_p.K417M|MAP4K3_uc010yns.1_Translation_Start_Site	p.K438M	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			19	1404	-		all_hematologic(82;0.211)	438					Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.1313A>T	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646444	0.67358	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681	T;T;T	0.25912	1.77;1.77;1.77	5.8	5.8	0.92144	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.70016	0.967;0.923	T	0.51996	-0.8634	10	0.51188	T	0.08	.	15.8331	0.78773	0.0:0.0:0.0:1.0	.	417;438	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	M	438;354;417	ENSP00000263881:K438M;ENSP00000416958:K354M;ENSP00000345434:K417M	ENSP00000263881:K438M	K	-	2	0	MAP4K3	39370938	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.941000	0.70195	2.216000	0.71823	0.533000	0.62120	AAG		0.303	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618	Missense_Mutation	11	56	0	0	0	0	11	56				
SRBD1	55133	broad.mit.edu	37	2	45789838	45789838	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:45789838A>T	ENST00000263736.4	-	10	1425	c.1363T>A	c.(1363-1365)Tct>Act	p.S455T	SRBD1_ENST00000535761.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	455					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ACTCCATCAGAAATATTGACC	0.338																																						uc002rus.2		NA																	0				central_nervous_system(1)	1						c.(1363-1365)TCT>ACT		S1 RNA binding domain 1							127.0	125.0	126.0					2																	45789838		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45789838A>T	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1363T>A	2.37:g.45789838A>T	ENSP00000263736:p.Ser455Thr					SRBD1_uc010yoc.1_5'UTR	p.S455T	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		10	1439	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	455					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.1363T>A	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.463123	0.43736	.	.	ENSG00000068784	ENST00000263736	T	0.44083	0.93	5.04	-3.9	0.04181	Tex-like domain (1);	0.495232	0.23718	N	0.045259	T	0.25568	0.0622	N	0.14661	0.345	0.80722	D	1	B	0.19817	0.039	B	0.20767	0.031	T	0.06250	-1.0837	10	0.66056	D	0.02	.	17.1269	0.86716	0.1579:0.0:0.8421:0.0	.	455	Q8N5C6	SRBD1_HUMAN	T	455	ENSP00000263736:S455T	ENSP00000263736:S455T	S	-	1	0	SRBD1	45643342	1.000000	0.71417	0.985000	0.45067	0.642000	0.38348	2.546000	0.45778	-0.544000	0.06232	0.254000	0.18369	TCT		0.338	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079		31	130	0	0	0	0	31	130				
IL18RAP	8807	broad.mit.edu	37	2	103061677	103061677	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:103061677A>G	ENST00000264260.2	+	9	1538	c.949A>G	c.(949-951)Att>Gtt	p.I317V	IL18RAP_ENST00000409369.1_Missense_Mutation_p.I175V	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	317	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGATGAAATCATTGAGCGTAA	0.398																																						uc002tbx.2		NA																	0				skin(3)|ovary(2)	5						c.(949-951)ATT>GTT		interleukin 18 receptor accessory protein							90.0	83.0	85.0					2																	103061677		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103061677A>G	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.949A>G	2.37:g.103061677A>G	ENSP00000264260:p.Ile317Val					IL18RAP_uc010fiz.2_Missense_Mutation_p.I175V	p.I317V	NM_003853	NP_003844	O95256	I18RA_HUMAN			9	1433	+			317			Ig-like C2-type 2.|Extracellular (Potential).		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.949A>G	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	A	8.514	0.867190	0.17250	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.23348	1.91;1.91	5.63	-3.53	0.04667	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.747788	0.12425	N	0.470061	T	0.13756	0.0333	L	0.38953	1.18	0.09310	N	1	B	0.27068	0.167	B	0.29942	0.109	T	0.38351	-0.9665	10	0.10111	T	0.7	.	4.5714	0.12212	0.2084:0.1163:0.0701:0.6051	.	317	O95256	I18RA_HUMAN	V	317;175	ENSP00000264260:I317V;ENSP00000387201:I175V	ENSP00000264260:I317V	I	+	1	0	IL18RAP	102428109	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.652000	0.05366	-0.484000	0.06763	-1.385000	0.01166	ATT		0.398	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		30	40	0	0	0	0	30	40				
NCK2	8440	broad.mit.edu	37	2	106498068	106498068	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:106498068G>A	ENST00000233154.4	+	4	953	c.511G>A	c.(511-513)Gag>Aag	p.E171K	NCK2_ENST00000393349.2_Missense_Mutation_p.E171K|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	171					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						GGAGGTGGACGAGGCGGCTGC	0.657																																						uc002tdg.2		NA																	0				ovary(1)|lung(1)	2						c.(511-513)GAG>AAG		NCK adaptor protein 2 isoform A							55.0	57.0	56.0					2																	106498068		2203	4300	6503	SO:0001583	missense	8440				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity	g.chr2:106498068G>A	AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.511G>A	2.37:g.106498068G>A	ENSP00000233154:p.Glu171Lys					NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Missense_Mutation_p.E171K	p.E171K	NM_003581	NP_003572	O43639	NCK2_HUMAN			4	953	+			171					D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	ENST00000233154.4	37	c.511G>A	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633614	0.47049	.	.	ENSG00000071051	ENST00000233154;ENST00000393349	T;T	0.70869	-0.52;-0.52	5.41	5.41	0.78517	.	0.126387	0.64402	D	0.000002	T	0.69043	0.3067	L	0.60455	1.87	0.80722	D	1	B	0.24092	0.097	B	0.20577	0.03	T	0.64179	-0.6468	10	0.32370	T	0.25	.	19.5465	0.95299	0.0:0.0:1.0:0.0	.	171	O43639	NCK2_HUMAN	K	171	ENSP00000233154:E171K;ENSP00000377018:E171K	ENSP00000233154:E171K	E	+	1	0	NCK2	105864500	1.000000	0.71417	0.996000	0.52242	0.051000	0.14879	5.020000	0.64066	2.700000	0.92200	0.462000	0.41574	GAG		0.657	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581		26	79	0	0	0	0	26	79				
IWS1	55677	broad.mit.edu	37	2	128253582	128253582	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:128253582C>T	ENST00000295321.4	-	7	1967	c.1708G>A	c.(1708-1710)Gct>Act	p.A570T	IWS1_ENST00000455721.2_3'UTR|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	570	Interaction with SUPT6H and ALYREF.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		ACCTCAGCAGCTTCATTCATC	0.468																																						uc002ton.2		NA																	0				ovary(1)	1						c.(1708-1710)GCT>ACT		IWS1 homolog							190.0	179.0	183.0					2																	128253582		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128253582C>T	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.1708G>A	2.37:g.128253582C>T	ENSP00000295321:p.Ala570Thr					IWS1_uc010yzl.1_RNA	p.A570T	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	7	2011	-	Colorectal(110;0.1)		570					Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.1708G>A	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	35	5.461331	0.96240	.	.	ENSG00000163166	ENST00000295321;ENST00000433551	T	0.48836	0.8	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.73799	0.3633	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.77143	-0.2696	10	0.52906	T	0.07	-12.6626	19.1892	0.93658	0.0:1.0:0.0:0.0	.	570	Q96ST2	IWS1_HUMAN	T	570;523	ENSP00000295321:A570T	ENSP00000295321:A570T	A	-	1	0	IWS1	127970052	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.770000	0.85390	2.553000	0.86117	0.563000	0.77884	GCT		0.468	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		122	173	0	0	0	0	122	173				
SLC4A10	57282	broad.mit.edu	37	2	162820676	162820676	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:162820676C>T	ENST00000446997.1	+	22	2987	c.2894C>T	c.(2893-2895)cCg>cTg	p.P965L	SLC4A10_ENST00000272716.5_Missense_Mutation_p.P935L|SLC4A10_ENST00000421911.1_Missense_Mutation_p.P965L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.P935L|SLC4A10_ENST00000375514.5_Missense_Mutation_p.P946L	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	965					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TTCTGGATGCCGGCAAAACAT	0.368																																						uc002ubx.3		NA																	0				ovary(2)|lung(2)|pancreas(1)	5						c.(2893-2895)CCG>CTG		solute carrier family 4, sodium bicarbonate							73.0	64.0	67.0					2																	162820676		1840	4090	5930	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162820676C>T		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2894C>T	2.37:g.162820676C>T	ENSP00000393066:p.Pro965Leu					SLC4A10_uc002uby.3_Missense_Mutation_p.P935L|SLC4A10_uc010zcs.1_Missense_Mutation_p.P946L	p.P965L	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			22	3078	+			965			Extracellular (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.2894C>T	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127545	0.94473	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	D;D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45;-2.45	5.43	5.43	0.79202	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96194	0.8759	M	0.93197	3.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97008	0.9734	10	0.87932	D	0	.	19.2361	0.93861	0.0:1.0:0.0:0.0	.	946;935;965	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	L	946;935;935;934;965;965;964	ENSP00000364664:P946L;ENSP00000395797:P935L;ENSP00000272716:P935L;ENSP00000393066:P965L;ENSP00000404486:P965L	ENSP00000272716:P935L	P	+	2	0	SLC4A10	162528922	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.528000	0.85240	0.655000	0.94253	CCG		0.368	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		8	26	0	0	0	0	8	26				
LRP2	4036	broad.mit.edu	37	2	169993958	169993958	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:169993958C>G	ENST00000263816.3	-	76	13849	c.13564G>C	c.(13564-13566)Gaa>Caa	p.E4522Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4522					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATTGGGTTTTCAAATATTATG	0.453																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(13564-13566)GAA>CAA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						175.0	168.0	170.0					2																	169993958		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:169993958C>G		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13564G>C	2.37:g.169993958C>G	ENSP00000263816:p.Glu4522Gln						p.E4522Q	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	76	13777	-			4522			Endocytosis signal (Potential).|Cytoplasmic (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.13564G>C	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815103	0.90790	.	.	ENSG00000081479	ENST00000263816	D	0.90385	-2.66	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.92303	0.7558	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.92048	0.5646	10	0.41790	T	0.15	.	19.4749	0.94983	0.0:1.0:0.0:0.0	.	4522	P98164	LRP2_HUMAN	Q	4522	ENSP00000263816:E4522Q	ENSP00000263816:E4522Q	E	-	1	0	LRP2	169702204	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.146000	0.71777	2.596000	0.87737	0.551000	0.68910	GAA		0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		37	106	0	0	0	0	37	106				
LRP2	4036	broad.mit.edu	37	2	170103911	170103911	+	Nonsense_Mutation	SNP	G	G	T	rs575919892	byFrequency	TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:170103911G>T	ENST00000263816.3	-	20	3170	c.2885C>A	c.(2884-2886)tCg>tAg	p.S962*	LRP2_ENST00000443831.1_Nonsense_Mutation_p.S825*	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	962					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.S962*(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GACATCATACGATTTCAAATG	0.398																																						uc002ues.2		NA																	1	Substitution - Nonsense(1)		large_intestine(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(2884-2886)TCG>TAG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						130.0	111.0	117.0					2																	170103911		2203	4300	6503	SO:0001587	stop_gained	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170103911G>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2885C>A	2.37:g.170103911G>T	ENSP00000263816:p.Ser962*					LRP2_uc010zdf.1_Nonsense_Mutation_p.S825*	p.S962*	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	20	3098	-			962			Extracellular (Potential).		O00711|Q16215	Nonsense_Mutation	SNP	ENST00000263816.3	37	c.2885C>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	39	7.840649	0.98519	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	.	.	.	5.8	3.98	0.46160	.	0.268999	0.37955	N	0.001880	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	11.672	0.51408	0.147:0.0:0.853:0.0	.	.	.	.	X	962;825	.	ENSP00000263816:S962X	S	-	2	0	LRP2	169812157	1.000000	0.71417	0.081000	0.20488	0.198000	0.23893	5.393000	0.66279	0.769000	0.33313	0.491000	0.48974	TCG		0.398	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		26	65	1	0	5.62e-17	6.19e-17	26	65				
CHN1	1123	broad.mit.edu	37	2	175742727	175742727	+	Silent	SNP	T	T	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:175742727T>A	ENST00000409900.3	-	6	703	c.390A>T	c.(388-390)gcA>gcT	p.A130A	CHN1_ENST00000409156.3_Silent_p.A130A|CHN1_ENST00000488080.1_Intron	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	130	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TGTATTCTGCTGCCTTGGTTT	0.433			T	TAF15	extraskeletal myxoid chondrosarcoma																																	uc002uji.2		NA		Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		0				ovary(2)|skin(1)	3						c.(388-390)GCA>GCT		chimerin (chimaerin) 1 isoform a							199.0	189.0	192.0					2																	175742727		1937	4156	6093	SO:0001819	synonymous_variant	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr2:175742727T>A		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.390A>T	2.37:g.175742727T>A						CHN1_uc010zeq.1_Silent_p.A130A|CHN1_uc002ujj.2_Intron	p.A130A	NM_001822	NP_001813	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		6	920	-			130			SH2.		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Silent	SNP	ENST00000409900.3	37	c.390A>T	CCDS46455.1																																																																																				0.433	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		30	229	0	0	0	0	30	229				
CASP10	843	broad.mit.edu	37	2	202050586	202050586	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:202050586C>G	ENST00000272879.5	+	2	270	c.86C>G	c.(85-87)tCa>tGa	p.S29*	CASP10_ENST00000448480.1_Nonsense_Mutation_p.S29*|CASP10_ENST00000286186.6_Nonsense_Mutation_p.S29*|CASP10_ENST00000313728.7_Nonsense_Mutation_p.S29*|CASP10_ENST00000346817.5_Nonsense_Mutation_p.S29*|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000374650.3_Nonsense_Mutation_p.S29*|CASP10_ENST00000360132.3_Nonsense_Mutation_p.S29*	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	29	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						ATTATTGATTCAAACCTGGGG	0.443																																						uc002uxl.1		NA																	0				skin(3)|ovary(1)|pancreas(1)|breast(1)	6						c.(85-87)TCA>TGA		caspase 10 isoform b preproprotein							62.0	66.0	65.0					2																	202050586		2203	4300	6503	SO:0001587	stop_gained	843				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	g.chr2:202050586C>G	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.86C>G	2.37:g.202050586C>G	ENSP00000272879:p.Ser29*					CASP10_uc002uxi.1_Nonsense_Mutation_p.S29*|CASP10_uc010zhn.1_RNA|CASP10_uc002uxj.1_Nonsense_Mutation_p.S29*|CASP10_uc002uxk.1_Nonsense_Mutation_p.S29*|CASP10_uc010fta.1_Nonsense_Mutation_p.S29*|CASP10_uc002uxm.1_Nonsense_Mutation_p.S29*|CASP10_uc010ftb.1_RNA	p.S29*	NM_032974	NP_116756	Q92851	CASPA_HUMAN			2	504	+			29			DED 1.		Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Nonsense_Mutation	SNP	ENST00000272879.5	37	c.86C>G	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843810	0.91197	.	.	ENSG00000003400	ENST00000286186;ENST00000360132;ENST00000272879;ENST00000374650;ENST00000346817;ENST00000313728;ENST00000448480	.	.	.	5.13	-4.43	0.03568	.	2.852280	0.01968	N	0.043873	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	1.3366	0.02146	0.3616:0.3011:0.1767:0.1606	.	.	.	.	X	29	.	ENSP00000272879:S29X	S	+	2	0	CASP10	201758831	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.352000	0.07701	-1.017000	0.03367	0.655000	0.94253	TCA		0.443	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		27	113	0	0	0	0	27	113				
CD28	940	broad.mit.edu	37	2	204594487	204594487	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:204594487A>T	ENST00000324106.8	+	3	675	c.526A>T	c.(526-528)Att>Ttt	p.I176F	CD28_ENST00000458610.2_Missense_Mutation_p.I190F|CD28_ENST00000374478.4_Missense_Mutation_p.I57F|CD28_ENST00000374481.3_Missense_Mutation_p.I92F	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule	176					apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|cytokine biosynthetic process (GO:0042089)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|negative thymic T cell selection (GO:0045060)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of inflammatory response to antigenic stimulus (GO:0002863)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of mitosis (GO:0045840)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of viral genome replication (GO:0045070)|regulation of defense response to virus by virus (GO:0050690)|regulatory T cell differentiation (GO:0045066)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						GGCCTTTATTATTTTCTGGGT	0.433																																						uc002vah.3		NA																	0					0						c.(526-528)ATT>TTT		CD28 antigen precursor							189.0	184.0	185.0					2																	204594487		2203	4300	6503	SO:0001583	missense	940				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity	g.chr2:204594487A>T	J02988	CCDS2361.1, CCDS58749.1	2q33	2013-01-11	2006-03-28		ENSG00000178562	ENSG00000178562		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1653	protein-coding gene	gene with protein product	"""T-cell-specific surface glycoprotein"""	186760	"""CD28 antigen (Tp44)"""			1355979	Standard	NM_006139		Approved		uc002vah.4	P10747	OTTHUMG00000132878	ENST00000324106.8:c.526A>T	2.37:g.204594487A>T	ENSP00000324890:p.Ile176Phe					CD28_uc002vag.1_RNA|CD28_uc010zio.1_RNA|CD28_uc010ftx.2_Missense_Mutation_p.I57F|CD28_uc002vaj.3_Intron	p.I176F	NM_006139	NP_006130	P10747	CD28_HUMAN			3	748	+			176			Helical; (Potential).		A8KAC1|Q13964|Q52M23|Q70WG0|Q8NI54|Q8NI55|Q8NI56|Q8WXJ2|Q9BYV0	Missense_Mutation	SNP	ENST00000324106.8	37	c.526A>T	CCDS2361.1	.	.	.	.	.	.	.	.	.	.	A	9.906	1.208095	0.22205	.	.	ENSG00000178562	ENST00000374481;ENST00000458610;ENST00000324106;ENST00000374478	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	5.59	-7.92	0.01160	.	1.517710	0.03699	N	0.248227	T	0.56485	0.1988	N	0.12182	0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.47824	-0.9087	10	0.13108	T	0.6	-37.0793	4.8608	0.13583	0.4674:0.0:0.3089:0.2237	.	57;176	P10747-2;P10747	.;CD28_HUMAN	F	92;190;176;57	ENSP00000363605:I92F;ENSP00000393648:I190F;ENSP00000324890:I176F;ENSP00000363602:I57F	ENSP00000324890:I176F	I	+	1	0	CD28	204302732	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-1.062000	0.03468	-1.210000	0.02627	-0.337000	0.08149	ATT		0.433	CD28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256366.3	NM_006139		126	176	0	0	0	0	126	176				
TPX2	22974	broad.mit.edu	37	20	30363779	30363779	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr20:30363779C>G	ENST00000300403.6	+	8	1246	c.718C>G	c.(718-720)Ctg>Gtg	p.L240V	TPX2_ENST00000340513.4_Missense_Mutation_p.L240V	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	240					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GAAACTTGCTCTGGCTGGAAT	0.393																																						uc002wwp.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(718-720)CTG>GTG		TPX2, microtubule-associated protein homolog							119.0	118.0	119.0					20																	30363779		2203	4300	6503	SO:0001583	missense	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30363779C>G	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.718C>G	20.37:g.30363779C>G	ENSP00000300403:p.Leu240Val					TPX2_uc010gdv.1_Missense_Mutation_p.L240V	p.L240V	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		8	1416	+			240					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.718C>G	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374915	0.42105	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.38887	1.11	5.23	5.23	0.72850	.	0.155596	0.43579	D	0.000554	T	0.42944	0.1225	L	0.55481	1.735	0.47037	D	0.999296	D;P	0.53312	0.959;0.807	P;B	0.47744	0.556;0.197	T	0.09885	-1.0654	10	0.24483	T	0.36	-14.8406	11.7294	0.51728	0.2671:0.7329:0.0:0.0	.	240;240	Q96RR5;Q9ULW0	.;TPX2_HUMAN	V	240	ENSP00000341145:L240V	ENSP00000300403:L240V	L	+	1	2	TPX2	29827440	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	3.316000	0.51960	2.882000	0.98803	0.655000	0.94253	CTG		0.393	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			11	121	0	0	0	0	11	121				
SOGA1	140710	broad.mit.edu	37	20	35443638	35443638	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr20:35443638C>T	ENST00000357779.3	-	5	1819	c.1493G>A	c.(1492-1494)gGg>gAg	p.G498E	SOGA1_ENST00000456801.2_Missense_Mutation_p.G339E|SOGA1_ENST00000279034.6_Missense_Mutation_p.G498E|SOGA1_ENST00000237536.4_Missense_Mutation_p.G736E			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	498					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GACAGAGCACCCGAGGACTGC	0.602																																						uc002xgd.1		NA																	0					0						c.(1492-1494)GGG>GAG		hypothetical protein LOC140710 isoform 2							74.0	84.0	81.0					20																	35443638		2186	4282	6468	SO:0001583	missense	140710							g.chr20:35443638C>T	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.1493G>A	20.37:g.35443638C>T	ENSP00000350424:p.Gly498Glu					C20orf117_uc002xge.1_RNA	p.G498E	NM_199181	NP_954650	O94964	K0889_HUMAN			5	1820	-		Myeloproliferative disorder(115;0.00874)	498					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.1493G>A		.	.	.	.	.	.	.	.	.	.	C	3.658	-0.070175	0.07228	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.16597	2.33;2.34;2.34;2.35	5.2	4.24	0.50183	.	0.377810	0.27686	N	0.018261	T	0.32466	0.0830	L	0.51422	1.61	0.45690	D	0.9986	D	0.89917	1.0	D	0.77004	0.989	T	0.03875	-1.0996	10	0.17369	T	0.5	-44.4907	14.0133	0.64509	0.1525:0.8475:0.0:0.0	.	498	O94964-4	.	E	736;498;339;498	ENSP00000237536:G736E;ENSP00000279034:G498E;ENSP00000413886:G339E;ENSP00000350424:G498E	ENSP00000237536:G736E	G	-	2	0	KIAA0889	34877052	0.000000	0.05858	0.045000	0.18777	0.013000	0.08279	0.796000	0.26986	1.382000	0.46385	0.561000	0.74099	GGG		0.602	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		89	155	0	0	0	0	89	155				
TOX2	84969	broad.mit.edu	37	20	42694519	42694519	+	Silent	SNP	G	G	A	rs143301359	byFrequency	TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr20:42694519G>A	ENST00000358131.5	+	6	1282	c.1074G>A	c.(1072-1074)acG>acA	p.T358T	TOX2_ENST00000341197.4_Silent_p.T376T|TOX2_ENST00000372999.1_Silent_p.T334T|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000423191.2_Silent_p.T334T	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	358					female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TCGCCCGGACGCTGGGCTCCA	0.711																																						uc002xlf.3		NA																	0				ovary(1)	1						c.(1072-1074)ACG>ACA		TOX high mobility group box family member 2		C	,,,	1,4401		0,1,2200	39.0	43.0	42.0		1002,1128,1074,1002	-10.2	0.1	20	dbSNP_134	42	10,8586	7.1+/-27.0	0,10,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TOX2	NM_001098796.1,NM_001098797.1,NM_001098798.1,NM_032883.2	,,,	0,11,6488	AA,AG,GG		0.1163,0.0227,0.0846	,,,	334/465,376/507,358/489,334/465	42694519	11,12987	2201	4298	6499	SO:0001819	synonymous_variant	84969				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr20:42694519G>A	BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1074G>A	20.37:g.42694519G>A						TOX2_uc010ggo.2_Silent_p.T376T|TOX2_uc002xle.3_Silent_p.T334T|TOX2_uc010ggp.2_Silent_p.T334T|TOX2_uc002xlg.2_Intron|TOX2_uc010zwk.1_Silent_p.T254T	p.T358T	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		6	1091	+		Myeloproliferative disorder(115;0.00452)	358					A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Silent	SNP	ENST00000358131.5	37	c.1074G>A	CCDS42875.1																																																																																				0.711	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2			25	78	0	0	0	0	25	78				
LTN1	26046	broad.mit.edu	37	21	30315991	30315991	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr21:30315991G>C	ENST00000361371.5	-	23	4297	c.4218C>G	c.(4216-4218)taC>taG	p.Y1406*	LTN1_ENST00000389194.2_Nonsense_Mutation_p.Y1452*			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1406					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ATTCTTACTTGTATAGCATAT	0.294																																						uc002ymr.2		NA																	0					0						c.(4354-4356)TAC>TAG		zinc finger protein 294							68.0	63.0	65.0					21																	30315991		2203	4300	6503	SO:0001587	stop_gained	26046						ligase activity|zinc ion binding	g.chr21:30315991G>C	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.4218C>G	21.37:g.30315991G>C	ENSP00000354977:p.Tyr1406*						p.Y1452*	NM_015565	NP_056380	O94822	LTN1_HUMAN			23	4369	-			1406					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Nonsense_Mutation	SNP	ENST00000361371.5	37	c.4356C>G		.	.	.	.	.	.	.	.	.	.	G	42	9.650548	0.99229	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	.	.	.	4.68	1.89	0.25635	.	0.389683	0.26035	N	0.026722	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.3935	0.16257	0.5217:0.0:0.4783:0.0	.	.	.	.	X	1452;1406	.	ENSP00000354977:Y1406X	Y	-	3	2	LTN1	29237862	1.000000	0.71417	0.973000	0.42090	0.963000	0.63663	1.139000	0.31504	0.712000	0.32039	0.563000	0.77884	TAC		0.294	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		35	46	0	0	0	0	35	46				
MX1	4599	broad.mit.edu	37	21	42821216	42821216	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr21:42821216G>A	ENST00000398600.2	+	16	2451	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M	MX1_ENST00000455164.2_Missense_Mutation_p.V476M|MX1_ENST00000398598.3_Missense_Mutation_p.V476M|MX1_ENST00000288383.6_Missense_Mutation_p.V453M	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1	476	Middle domain.|Stalk.				apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GCTACACACCGTGACGGGTGA	0.483																																						uc002yzh.2		NA																	0				ovary(1)	1						c.(1426-1428)GTG>ATG		myxovirus resistance protein 1							87.0	98.0	94.0					21																	42821216		2203	4300	6503	SO:0001583	missense	4599				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	g.chr21:42821216G>A		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.1426G>A	21.37:g.42821216G>A	ENSP00000381601:p.Val476Met					MX1_uc002yzi.2_Missense_Mutation_p.V476M|MX1_uc010goq.2_Missense_Mutation_p.V476M	p.V476M	NM_001144925	NP_001138397	P20591	MX1_HUMAN			16	2373	+		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)	476					B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	Missense_Mutation	SNP	ENST00000398600.2	37	c.1426G>A	CCDS13673.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772301	0.49680	.	.	ENSG00000157601	ENST00000398600;ENST00000398598;ENST00000455164;ENST00000288383	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	4.81	0.961	0.19638	Dynamin central domain (1);	0.442835	0.22930	N	0.053915	D	0.89767	0.6810	M	0.87180	2.865	0.20307	N	0.999915	D	0.63880	0.993	D	0.65987	0.94	T	0.82121	-0.0614	10	0.87932	D	0	-19.7374	9.759	0.40522	0.2687:0.0:0.7313:0.0	.	476	P20591	MX1_HUMAN	M	476;476;476;453	ENSP00000381601:V476M;ENSP00000381599:V476M;ENSP00000410523:V476M;ENSP00000288383:V453M	ENSP00000288383:V453M	V	+	1	0	MX1	41743086	0.073000	0.21202	0.000000	0.03702	0.009000	0.06853	0.732000	0.26072	0.049000	0.15920	0.655000	0.94253	GTG		0.483	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195161.2			47	52	0	0	0	0	47	52				
SAMM50	25813	broad.mit.edu	37	22	44392241	44392241	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr22:44392241G>A	ENST00000350028.4	+	15	1545	c.1388G>A	c.(1387-1389)gGa>gAa	p.G463E	PARVB_ENST00000406477.3_5'Flank|SAMM50_ENST00000396202.3_Missense_Mutation_p.G253E	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	463					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial outer membrane (GO:0045040)|protein targeting to mitochondrion (GO:0006626)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrial sorting and assembly machinery complex (GO:0001401)|mitochondrion (GO:0005739)				endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GTCCAGTTTGGAGCTGGGATA	0.597																																						uc003bej.2		NA																	0				skin(1)	1						c.(1387-1389)GGA>GAA		sorting and assembly machinery component 50							241.0	253.0	249.0					22																	44392241		2203	4300	6503	SO:0001583	missense	25813				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	g.chr22:44392241G>A	AK001087	CCDS14055.1	22q13.31	2013-08-21	2013-08-21	2005-11-20	ENSG00000100347	ENSG00000100347			24276	protein-coding gene	gene with protein product		612058	"""sorting and assembly machinery component 50 homolog (S. cerevisiae)"""			15644312	Standard	NM_015380		Approved	CGI-51, TRG-3, YNL026W, OMP85, TOB55	uc003bej.3	Q9Y512	OTTHUMG00000150557	ENST00000350028.4:c.1388G>A	22.37:g.44392241G>A	ENSP00000345445:p.Gly463Glu					PARVB_uc003bem.2_5'Flank|SAMM50_uc011aqd.1_Missense_Mutation_p.G253E|SAMM50_uc003bek.2_Missense_Mutation_p.G268E	p.G463E	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN			15	1585	+		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)	463					Q53HC4|Q56VW7|Q969Y9|Q96I46|Q9NW85|Q9UQM9	Missense_Mutation	SNP	ENST00000350028.4	37	c.1388G>A	CCDS14055.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125087	0.94429	.	.	ENSG00000100347	ENST00000350028;ENST00000396202	T;T	0.50813	0.73;0.73	4.91	4.91	0.64330	Bacterial surface antigen (D15) (1);	0.000000	0.85682	D	0.000000	T	0.73961	0.3654	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80344	-0.1422	10	0.72032	D	0.01	-22.6524	15.229	0.73372	0.0:0.0:1.0:0.0	.	268;463	B3KUE6;Q9Y512	.;SAM50_HUMAN	E	463;253	ENSP00000345445:G463E;ENSP00000379505:G253E	ENSP00000345445:G463E	G	+	2	0	SAMM50	42723574	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.203000	0.89739	2.283000	0.76528	0.655000	0.94253	GGA		0.597	SAMM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318898.2	NM_015380		127	413	0	0	0	0	127	413				
SCN10A	6336	broad.mit.edu	37	3	38833599	38833599	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:38833599A>G	ENST00000449082.2	-	2	330	c.331T>C	c.(331-333)Tgg>Cgg	p.W111R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	111					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CTGAATAGCCACAGGGCCCGA	0.458																																						uc003ciq.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(331-333)TGG>CGG		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						211.0	204.0	206.0					3																	38833599		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38833599A>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.331T>C	3.37:g.38833599A>G	ENSP00000390600:p.Trp111Arg						p.W111R	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	2	331	-			111					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.331T>C	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	A	18.43	3.622802	0.66787	.	.	ENSG00000185313	ENST00000449082	D	0.95518	-3.73	4.2	2.95	0.34219	.	0.315612	0.32533	N	0.005977	D	0.95890	0.8662	M	0.78049	2.395	0.33968	D	0.64643	D	0.62365	0.991	P	0.52909	0.713	D	0.97818	1.0255	10	0.87932	D	0	.	11.2647	0.49104	0.8482:0.1518:0.0:0.0	.	111	Q9Y5Y9	SCNAA_HUMAN	R	111	ENSP00000390600:W111R	ENSP00000390600:W111R	W	-	1	0	SCN10A	38808603	0.927000	0.31430	1.000000	0.80357	0.998000	0.95712	7.129000	0.77225	1.902000	0.55061	0.528000	0.53228	TGG		0.458	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		118	101	0	0	0	0	118	101				
NBEAL2	23218	broad.mit.edu	37	3	47037919	47037919	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:47037919C>T	ENST00000450053.3	+	16	2489	c.2310C>T	c.(2308-2310)tcC>tcT	p.S770S	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.S770S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	770					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCTGGGGGTCCGGGCTGGTGG	0.716																																						uc003cqp.2		NA																	0				ovary(1)	1						c.(2308-2310)TCC>TCT		neurobeachin-like 2							15.0	19.0	18.0					3																	47037919		1916	4113	6029	SO:0001819	synonymous_variant	23218						binding	g.chr3:47037919C>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.2310C>T	3.37:g.47037919C>T						NBEAL2_uc010hjm.1_Silent_p.S331S	p.S770S	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	16	2489	+		Acute lymphoblastic leukemia(5;0.0534)	770					O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	c.2310C>T	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	C	5.673	0.308730	0.10733	.	.	ENSG00000160796	ENST00000416683	.	.	.	4.58	-7.93	0.01156	.	.	.	.	.	T	0.33498	0.0865	.	.	.	0.53005	D	0.999969	.	.	.	.	.	.	T	0.39313	-0.9620	4	.	.	.	.	0.8811	0.01234	0.1954:0.1696:0.2896:0.3454	.	.	.	.	L	242	.	.	P	+	2	0	NBEAL2	47012923	0.000000	0.05858	0.721000	0.30653	0.751000	0.42716	-1.601000	0.02081	-1.625000	0.01554	-0.379000	0.06801	CCG		0.716	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064		6	11	0	0	0	0	6	11				
TWF2	11344	broad.mit.edu	37	3	52269100	52269100	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:52269100G>C	ENST00000305533.5	-	2	291	c.48C>G	c.(46-48)ttC>ttG	p.F16L	TWF2_ENST00000499914.2_Missense_Mutation_p.F16L|TLR9_ENST00000597542.1_5'UTR	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	16	ADF-H 1. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCTTGGCAAAGAATTCCTTCA	0.572																																						uc003ddd.2		NA																	0				stomach(1)|ovary(1)|lung(1)	3						c.(46-48)TTC>TTG		twinfilin-like protein							113.0	99.0	103.0					3																	52269100		2203	4300	6503	SO:0001583	missense	11344					cytoskeleton|perinuclear region of cytoplasm	actin binding|ATP binding	g.chr3:52269100G>C	Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"""protein tyrosine kinase 9-like (A6-related protein)"", ""PTK9L protein tyrosine kinase 9-like (A6-related protein)"", ""twinfilin, actin-binding protein, homolog 2 (Drosophila)"""	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.48C>G	3.37:g.52269100G>C	ENSP00000303908:p.Phe16Leu					TWF2_uc010hmc.2_Missense_Mutation_p.F16L	p.F16L	NM_007284	NP_009215	Q6IBS0	TWF2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	199	-			16			ADF-H 1.		Q9Y3F5	Missense_Mutation	SNP	ENST00000305533.5	37	c.48C>G	CCDS2849.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368926	0.42003	.	.	ENSG00000247596	ENST00000305533;ENST00000499914	T;T	0.28255	1.62;1.62	4.58	3.71	0.42584	Actin-binding, cofilin/tropomyosin type (2);	.	.	.	.	T	0.25232	0.0613	L	0.55834	1.745	0.43195	D	0.995034	B;B	0.25521	0.128;0.049	B;B	0.22386	0.039;0.034	T	0.03597	-1.1021	9	0.12430	T	0.62	.	10.0835	0.42404	0.1697:0.0:0.8303:0.0	.	16;16	D6RG15;Q6IBS0	.;TWF2_HUMAN	L	16	ENSP00000303908:F16L;ENSP00000426464:F16L	ENSP00000303908:F16L	F	-	3	2	TWF2	52244140	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.518000	0.35877	1.157000	0.42530	0.561000	0.74099	TTC		0.572	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2			20	57	0	0	0	0	20	57				
KBTBD8	84541	broad.mit.edu	37	3	67054415	67054415	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:67054415G>C	ENST00000417314.2	+	3	1073	c.1024G>C	c.(1024-1026)Ggg>Cgg	p.G342R	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000295568.4_Missense_Mutation_p.G316R			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	342						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CATTGCAGGAGGGTACAGGCC	0.428																																						uc003dmy.2		NA																	0				ovary(2)|large_intestine(1)|breast(1)	4						c.(1024-1026)GGG>CGG		T-cell activation kelch repeat protein							132.0	123.0	126.0					3																	67054415		2203	4300	6503	SO:0001583	missense	84541							g.chr3:67054415G>C	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1024G>C	3.37:g.67054415G>C	ENSP00000401878:p.Gly342Arg					KBTBD8_uc011bfv.1_Intron	p.G342R	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	3	1077	+		Lung NSC(201;0.0765)	342			Kelch 1.		B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	c.1024G>C	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.272019	0.80469	.	.	ENSG00000163376	ENST00000295568;ENST00000417314	D;D	0.99494	-6.01;-6.01	5.25	5.25	0.73442	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.99384	0.9783	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99541	1.0963	9	.	.	.	.	19.1977	0.93696	0.0:0.0:1.0:0.0	.	342	Q8NFY9	KBTB8_HUMAN	R	316;342	ENSP00000295568:G316R;ENSP00000401878:G342R	.	G	+	1	0	KBTBD8	67137105	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.768000	0.98965	2.618000	0.88619	0.557000	0.71058	GGG		0.428	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		65	65	0	0	0	0	65	65				
PHLDB2	90102	broad.mit.edu	37	3	111688638	111688638	+	Silent	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:111688638A>G	ENST00000431670.2	+	16	3828	c.3417A>G	c.(3415-3417)gtA>gtG	p.V1139V	PHLDB2_ENST00000481953.1_Silent_p.V1096V|PHLDB2_ENST00000412622.1_Silent_p.V1096V|PHLDB2_ENST00000393925.3_Silent_p.V1139V|PHLDB2_ENST00000393923.3_Silent_p.V1123V|PHLDB2_ENST00000495180.1_Silent_p.V630V	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1139						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GTTACCATGTATCAATCACAG	0.458																																						uc010hqa.2		NA																	0				ovary(4)|skin(2)	6						c.(3415-3417)GTA>GTG		pleckstrin homology-like domain, family B,							119.0	122.0	121.0					3																	111688638		2203	4300	6503	SO:0001819	synonymous_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111688638A>G		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3417A>G	3.37:g.111688638A>G						PHLDB2_uc003dyc.2_Silent_p.V1123V|PHLDB2_uc003dyd.2_Silent_p.V1096V|PHLDB2_uc003dyg.2_Silent_p.V1139V|PHLDB2_uc003dyh.2_Silent_p.V1096V|PHLDB2_uc003dyi.2_Silent_p.V630V|PHLDB2_uc003dyj.2_Silent_p.V194V	p.V1139V	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			16	3828	+			1139					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Silent	SNP	ENST00000431670.2	37	c.3417A>G	CCDS46886.1																																																																																				0.458	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		61	138	0	0	0	0	61	138				
P2RY1	5028	broad.mit.edu	37	3	152554155	152554155	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:152554155G>A	ENST00000305097.3	+	1	1420	c.584G>A	c.(583-585)cGc>cAc	p.R195H		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	195					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.R195H(2)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			ACCGGGGTCCGCAAAAACAAA	0.522																																						uc003ezq.2		NA																	2	Substitution - Missense(2)		lung(1)|prostate(1)	lung(1)	1						c.(583-585)CGC>CAC		purinergic receptor P2Y1							163.0	145.0	151.0					3																	152554155		2203	4300	6503	SO:0001583	missense	5028				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:152554155G>A	U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.584G>A	3.37:g.152554155G>A	ENSP00000304767:p.Arg195His						p.R195H	NM_002563	NP_002554	P47900	P2RY1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)		1	1420	+			195			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000305097.3	37	c.584G>A	CCDS3169.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604421	0.66445	.	.	ENSG00000169860	ENST00000305097	T	0.27104	1.69	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.305852	0.30311	N	0.009911	T	0.40473	0.1118	L	0.52905	1.665	0.22666	N	0.99887	D	0.54207	0.965	P	0.52710	0.707	T	0.19614	-1.0300	10	0.46703	T	0.11	.	18.9739	0.92728	0.0:0.0:1.0:0.0	.	195	P47900	P2RY1_HUMAN	H	195	ENSP00000304767:R195H	ENSP00000304767:R195H	R	+	2	0	P2RY1	154036845	0.982000	0.34865	0.722000	0.30670	0.662000	0.39071	3.410000	0.52664	2.706000	0.92434	0.655000	0.94253	CGC		0.522	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356943.1	NM_002563		4	165	0	0	0	0	4	165				
DHX36	170506	broad.mit.edu	37	3	154018467	154018467	+	Silent	SNP	T	T	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:154018467T>C	ENST00000496811.1	-	11	1457	c.1377A>G	c.(1375-1377)gtA>gtG	p.V459V	DHX36_ENST00000308361.6_Silent_p.V459V|DHX36_ENST00000329463.5_Silent_p.V459V|DHX36_ENST00000544526.1_Silent_p.V459V	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	459					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTATAACATCTACAGTACTTG	0.303																																						uc003ezy.3		NA																	0				skin(1)	1						c.(1375-1377)GTA>GTG		DEAH (Asp-Glu-Ala-His) box polypeptide 36							111.0	106.0	108.0					3																	154018467		2202	4298	6500	SO:0001819	synonymous_variant	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154018467T>C	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1377A>G	3.37:g.154018467T>C						DHX36_uc010hvq.2_Silent_p.V459V|DHX36_uc003ezz.3_Silent_p.V459V	p.V459V	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		11	1458	-			459					B2RB00|Q70JU3|Q8IYE5|Q9P240	Silent	SNP	ENST00000496811.1	37	c.1377A>G	CCDS3171.1																																																																																				0.303	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		42	94	0	0	0	0	42	94				
PRKCI	5584	broad.mit.edu	37	3	170002329	170002329	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:170002329A>T	ENST00000295797.4	+	12	1453	c.1148A>T	c.(1147-1149)aAt>aTt	p.N383I		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	383	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	AAACTGGACAATGTATTACTG	0.328																																						uc003fgs.2		NA																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1147-1149)AAT>ATT		protein kinase C, iota							61.0	61.0	61.0					3																	170002329		2203	4299	6502	SO:0001583	missense	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:170002329A>T		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1148A>T	3.37:g.170002329A>T	ENSP00000295797:p.Asn383Ile						p.N383I	NM_002740	NP_002731	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		12	1386	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		383			Protein kinase.		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	c.1148A>T	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	A	27.4	4.823986	0.90873	.	.	ENSG00000163558	ENST00000295797	D	0.92048	-2.96	5.39	5.39	0.77823	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	0.85682	D	0.000000	D	0.97854	0.9295	H	0.99058	4.415	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99597	1.0977	9	.	.	.	.	15.7023	0.77552	1.0:0.0:0.0:0.0	.	383	P41743	KPCI_HUMAN	I	383	ENSP00000295797:N383I	.	N	+	2	0	PRKCI	171485023	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.860000	0.92272	2.166000	0.68216	0.477000	0.44152	AAT		0.328	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		43	122	0	0	0	0	43	122				
KLHL24	54800	broad.mit.edu	37	3	183368215	183368215	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:183368215G>A	ENST00000454652.2	+	4	457	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	KLHL24_ENST00000242810.6_Missense_Mutation_p.R24Q|KLHL24_ENST00000476808.1_Missense_Mutation_p.R24Q	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	24						cell projection (GO:0042995)|cytoplasm (GO:0005737)		p.R24Q(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GCAACTAAGCGAAAAGTTTTT	0.398																																						uc003flv.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(70-72)CGA>CAA		DRE1 protein							63.0	67.0	66.0					3																	183368215		2203	4300	6503	SO:0001583	missense	54800					axon|cytoplasm|perikaryon		g.chr3:183368215G>A		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.71G>A	3.37:g.183368215G>A	ENSP00000395012:p.Arg24Gln					KLHL24_uc003flw.2_Missense_Mutation_p.R24Q|KLHL24_uc003flx.2_Missense_Mutation_p.R24Q	p.R24Q	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		3	366	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		24					A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	c.71G>A	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187727	0.78789	.	.	ENSG00000114796	ENST00000242810;ENST00000493074;ENST00000437402;ENST00000454495;ENST00000473045;ENST00000468101;ENST00000427201;ENST00000482138;ENST00000454652;ENST00000468001;ENST00000476808	T;D;T;T;D;T;D;T	0.82255	-0.36;-1.59;-0.41;-0.42;-1.58;-0.36;-1.58;-0.31	5.59	5.59	0.84812	.	0.048120	0.85682	D	0.000000	T	0.76118	0.3943	L	0.27053	0.805	0.80722	D	1	D;D	0.56521	0.976;0.974	B;B	0.42422	0.387;0.186	T	0.74691	-0.3580	10	0.24483	T	0.36	.	19.5934	0.95525	0.0:0.0:1.0:0.0	.	24;24	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	Q	24	ENSP00000242810:R24Q;ENSP00000417347:R24Q;ENSP00000416836:R24Q;ENSP00000408567:R24Q;ENSP00000417275:R24Q;ENSP00000395012:R24Q;ENSP00000418922:R24Q;ENSP00000419010:R24Q	ENSP00000242810:R24Q	R	+	2	0	KLHL24	184850909	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.241000	0.95402	2.641000	0.89580	0.460000	0.39030	CGA		0.398	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		52	116	0	0	0	0	52	116				
RELL1	768211	broad.mit.edu	37	4	37633100	37633100	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:37633100C>T	ENST00000454158.2	-	6	814	c.726G>A	c.(724-726)cgG>cgA	p.R242R	RELL1_ENST00000314117.4_Silent_p.R242R	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN	RELT-like 1	242						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						TCAGGCTTCTCCGTTCCTTCT	0.502																																						uc003gsz.2		NA																	0					0						c.(724-726)CGG>CGA		receptor expressed in lymphoid tissues like 1							105.0	105.0	105.0					4																	37633100		1971	4125	6096	SO:0001819	synonymous_variant	768211					cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane		g.chr4:37633100C>T	AK025431	CCDS43221.1	4p14	2011-10-11				ENSG00000181826			27379	protein-coding gene	gene with protein product		611212				16389068	Standard	NM_001085399		Approved		uc003gsz.2	Q8IUW5		ENST00000454158.2:c.726G>A	4.37:g.37633100C>T						RELL1_uc010ifc.2_Silent_p.R242R	p.R242R	NM_001085399	NP_001078868	Q8IUW5	RELL1_HUMAN			6	816	-			242			Cytoplasmic (Potential).		Q8NBK1	Silent	SNP	ENST00000454158.2	37	c.726G>A	CCDS43221.1																																																																																				0.502	RELL1-002	KNOWN	alternative_3_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360485.1	NM_001085400		32	42	0	0	0	0	32	42				
NOA1	84273	broad.mit.edu	37	4	57843128	57843128	+	Silent	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:57843128C>G	ENST00000264230.4	-	1	1861	c.624G>C	c.(622-624)gcG>gcC	p.A208A	POLR2B_ENST00000441246.2_5'Flank|POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000381227.1_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	208	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										GCCGCCGCAACGCGGCGCTCA	0.731																																						uc003hck.2		NA																	0				ovary(1)|breast(1)	2						c.(622-624)GCG>GCC		hypothetical protein LOC84273							14.0	19.0	17.0					4																	57843128		2070	4129	6199	SO:0001819	synonymous_variant	84273						GTP binding	g.chr4:57843128C>G	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.624G>C	4.37:g.57843128C>G						POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank	p.A208A	NM_032313	NP_115689	Q8NC60	CD014_HUMAN			1	699	-	Glioma(25;0.08)|all_neural(26;0.181)		208					Q8N7L6|Q9BSQ9	Silent	SNP	ENST00000264230.4	37	c.624G>C	CCDS3510.1																																																																																				0.731	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313		14	26	0	0	0	0	14	26				
UGT2B4	7363	broad.mit.edu	37	4	70361310	70361310	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:70361310G>C	ENST00000305107.6	-	1	316	c.270C>G	c.(268-270)atC>atG	p.I90M	UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.I90M	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	90					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	CCAGCTGCTTGATAATATCCT	0.348																																						uc003hek.3		NA																	0				skin(2)	2						c.(268-270)ATC>ATG		UDP glucuronosyltransferase 2B4 precursor							53.0	52.0	52.0					4																	70361310		2050	4238	6288	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361310G>C	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.270C>G	4.37:g.70361310G>C	ENSP00000305221:p.Ile90Met					UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Missense_Mutation_p.I90M	p.I90M	NM_021139	NP_066962	P06133	UD2B4_HUMAN			1	317	-			90					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.270C>G	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	G	0.592	-0.832490	0.02713	.	.	ENSG00000156096	ENST00000512583;ENST00000305107	T;T	0.60548	0.18;0.18	2.41	-2.15	0.07102	.	1.263160	0.05966	U	0.641433	T	0.45034	0.1322	N	0.17278	0.47	0.09310	N	1	B;P	0.36222	0.003;0.544	B;P	0.45753	0.009;0.492	T	0.41770	-0.9490	10	0.33141	T	0.24	.	4.4662	0.11691	0.5106:0.1758:0.3136:0.0	.	90;90	G5E9X8;P06133	.;UD2B4_HUMAN	M	90	ENSP00000421290:I90M;ENSP00000305221:I90M	ENSP00000305221:I90M	I	-	3	3	UGT2B4	70395899	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.543000	0.00436	-0.483000	0.06772	-0.683000	0.03753	ATC		0.348	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		15	53	0	0	0	0	15	53				
CABS1	85438	broad.mit.edu	37	4	71201658	71201658	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:71201658G>C	ENST00000273936.5	+	1	976	c.902G>C	c.(901-903)aGa>aCa	p.R301T		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	301					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGGATGGAGAGAGATACTGCA	0.423																																						uc003hff.2		NA																	0					0						c.(901-903)AGA>ACA		testis development protein NYD-SP26							115.0	104.0	108.0					4																	71201658		2203	4300	6503	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71201658G>C	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.902G>C	4.37:g.71201658G>C	ENSP00000273936:p.Arg301Thr						p.R301T	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN			1	988	+		all_hematologic(202;0.196)	301					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.902G>C	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604238	0.28534	.	.	ENSG00000145309	ENST00000273936	T	0.28895	1.59	4.79	-0.801	0.10893	.	0.633697	0.14093	N	0.341895	T	0.17238	0.0414	N	0.24115	0.695	0.09310	N	1	P	0.38677	0.642	B	0.36666	0.23	T	0.14200	-1.0481	10	0.36615	T	0.2	.	8.1478	0.31121	0.6477:0.0:0.3523:0.0	.	301	Q96KC9	CABS1_HUMAN	T	301	ENSP00000273936:R301T	ENSP00000273936:R301T	R	+	2	0	CABS1	71236247	0.001000	0.12720	0.002000	0.10522	0.013000	0.08279	-0.130000	0.10498	-0.077000	0.12752	0.655000	0.94253	AGA		0.423	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122		20	84	0	0	0	0	20	84				
CXCL9	4283	broad.mit.edu	37	4	76927418	76927418	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:76927418A>G	ENST00000264888.5	-	2	112	c.74T>C	c.(73-75)gTa>gCa	p.V25A	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	25					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|defense response (GO:0006952)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|cytokine activity (GO:0005125)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTTTCTCACTACTGGGGTTCC	0.443																																						uc003hjh.1		NA																	0				ovary(1)	1						c.(73-75)GTA>GCA		small inducible cytokine B9 precursor							176.0	168.0	171.0					4																	76927418		2203	4300	6503	SO:0001583	missense	4283				cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity	g.chr4:76927418A>G	X72755	CCDS34014.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000138755		"""Endogenous ligands"""	7098	protein-coding gene	gene with protein product		601704	"""monokine induced by gamma interferon"""	CMK, MIG		8476424, 9730616	Standard	NM_002416		Approved	SCYB9, Humig, crg-10	uc003hjh.1	Q07325		ENST00000264888.5:c.74T>C	4.37:g.76927418A>G	ENSP00000354901:p.Val25Ala						p.V25A	NM_002416	NP_002407	Q07325	CXCL9_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		2	113	-			25					Q503B4	Missense_Mutation	SNP	ENST00000264888.5	37	c.74T>C	CCDS34014.1	.	.	.	.	.	.	.	.	.	.	A	9.198	1.027807	0.19512	.	.	ENSG00000138755	ENST00000264888	T	0.47528	0.84	4.54	0.663	0.17885	Chemokine interleukin-8-like domain (1);	1.020780	0.07856	N	0.965545	T	0.33990	0.0882	L	0.28344	0.845	0.09310	N	1	B	0.22983	0.078	B	0.28465	0.09	T	0.34453	-0.9828	10	0.38643	T	0.18	2.4358	6.0619	0.19842	0.6044:0.0:0.3956:0.0	.	25	Q07325	CXCL9_HUMAN	A	25	ENSP00000354901:V25A	ENSP00000354901:V25A	V	-	2	0	CXCL9	77146442	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.160000	0.16462	0.270000	0.21984	0.379000	0.24179	GTA		0.443	CXCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362819.1			106	159	0	0	0	0	106	159				
ENOPH1	58478	broad.mit.edu	37	4	83375957	83375957	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:83375957G>C	ENST00000273920.3	+	4	740	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	ENOPH1_ENST00000509635.1_Missense_Mutation_p.E70Q	NM_021204.3	NP_067027.1			enolase-phosphatase 1											central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						AGGGAGTGTGGAGGCACAGAA	0.448																																						uc003hmv.2		NA																	0					0						c.(472-474)GAG>CAG		enolase-phosphatase 1							274.0	249.0	257.0					4																	83375957		2203	4300	6503	SO:0001583	missense	58478				L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity	g.chr4:83375957G>C		CCDS3594.1, CCDS75154.1	4q21.3	2013-05-29			ENSG00000145293	ENSG00000145293	3.1.3.77		24599	protein-coding gene	gene with protein product	"""Enolase-phosphatase E1"", ""acireductone synthase"""					15843022	Standard	XM_005263168		Approved	MASA, E1, mtnC	uc003hmv.3	Q9UHY7	OTTHUMG00000130295	ENST00000273920.3:c.472G>C	4.37:g.83375957G>C	ENSP00000273920:p.Glu158Gln					ENOPH1_uc003hmw.2_Missense_Mutation_p.E70Q|ENOPH1_uc003hmx.2_Missense_Mutation_p.E12Q	p.E158Q	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN			4	729	+			158						Missense_Mutation	SNP	ENST00000273920.3	37	c.472G>C	CCDS3594.1	.	.	.	.	.	.	.	.	.	.	g	19.83	3.899493	0.72754	.	.	ENSG00000145293	ENST00000273920;ENST00000456931;ENST00000509635	T;T	0.06294	3.32;3.32	5.74	5.74	0.90152	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);2,3-diketo-5-methylthio-1-phosphopentane phosphatase (1);	0.136596	0.64402	D	0.000003	T	0.15739	0.0379	L	0.42686	1.345	0.80722	D	1	D	0.59357	0.985	P	0.57502	0.822	T	0.02512	-1.1148	10	0.22109	T	0.4	-33.8105	20.3429	0.98773	0.0:0.0:1.0:0.0	.	158	Q9UHY7	ENOPH_HUMAN	Q	158;158;70	ENSP00000273920:E158Q;ENSP00000422005:E70Q	ENSP00000273920:E158Q	E	+	1	0	ENOPH1	83594981	1.000000	0.71417	0.965000	0.40720	0.898000	0.52572	9.575000	0.98187	2.881000	0.98747	0.650000	0.86243	GAG		0.448	ENOPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252638.2	NM_021204		50	173	0	0	0	0	50	173				
UNC5C	8633	broad.mit.edu	37	4	96091409	96091409	+	Silent	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:96091409G>A	ENST00000453304.1	-	15	2874	c.2526C>T	c.(2524-2526)ttC>ttT	p.F842F		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	842					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGGATGCTGAAAGCACTGG	0.592																																						uc003htp.1		NA																	0				ovary(3)|pancreas(1)	4						c.(2524-2526)TTC>TTT		unc5C precursor							177.0	169.0	172.0					4																	96091409		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96091409G>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2526C>T	4.37:g.96091409G>A						uc003hto.2_5'Flank	p.F842F	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	15	2680	-		Hepatocellular(203;0.114)	842			Cytoplasmic (Potential).		Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.2526C>T	CCDS3643.1																																																																																				0.592	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		94	380	0	0	0	0	94	380				
ALPK1	80216	broad.mit.edu	37	4	113352225	113352225	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:113352225G>C	ENST00000458497.1	+	11	1801	c.1522G>C	c.(1522-1524)Gaa>Caa	p.E508Q	ALPK1_ENST00000504176.2_Missense_Mutation_p.E430Q|ALPK1_ENST00000177648.9_Missense_Mutation_p.E508Q	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	508							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TACTACTCAAGAAAAGCCACA	0.398																																						uc003iap.3		NA																	0				ovary(5)	5						c.(1522-1524)GAA>CAA		alpha-kinase 1							55.0	56.0	56.0					4																	113352225		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113352225G>C	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.1522G>C	4.37:g.113352225G>C	ENSP00000398048:p.Glu508Gln					ALPK1_uc003ian.3_Missense_Mutation_p.E508Q|ALPK1_uc011cfx.1_Missense_Mutation_p.E430Q|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.E336Q	p.E508Q	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	1801	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	508					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.1522G>C	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542168	0.45280	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02631	4.29;4.29;4.22	5.21	4.36	0.52297	.	0.473004	0.22782	N	0.055709	T	0.02807	0.0084	L	0.34521	1.04	0.26292	N	0.978109	P;P;P	0.41265	0.744;0.627;0.475	B;B;B	0.32864	0.154;0.073;0.073	T	0.39099	-0.9630	10	0.51188	T	0.08	-6.2488	13.5314	0.61623	0.0:0.0:0.8442:0.1558	.	430;430;508	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	Q	508;508;430	ENSP00000398048:E508Q;ENSP00000177648:E508Q;ENSP00000426044:E430Q	ENSP00000177648:E508Q	E	+	1	0	ALPK1	113571674	0.994000	0.37717	0.006000	0.13384	0.060000	0.15804	3.153000	0.50685	1.174000	0.42811	0.655000	0.94253	GAA		0.398	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		26	67	0	0	0	0	26	67				
NDST3	9348	broad.mit.edu	37	4	119059225	119059225	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:119059225C>T	ENST00000296499.5	+	5	1644	c.1241C>T	c.(1240-1242)aCg>aTg	p.T414M	NDST3_ENST00000433996.2_Missense_Mutation_p.T333M	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	414	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)			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						GGCATTCCAACGGACATGGGC	0.433																																						uc003ibx.2		NA																	0				large_intestine(1)	1						c.(1240-1242)ACG>ATG		N-deacetylase/N-sulfotransferase (heparan							91.0	91.0	91.0					4																	119059225		2203	4300	6503	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119059225C>T	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.1241C>T	4.37:g.119059225C>T	ENSP00000296499:p.Thr414Met					NDST3_uc011cgf.1_Missense_Mutation_p.T333M	p.T414M	NM_004784	NP_004775	O95803	NDST3_HUMAN			5	1644	+			414			Lumenal (Potential).|Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.1241C>T	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056583	0.36277	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.46819	1.13;0.86	5.39	5.39	0.77823	.	0.221166	0.46758	D	0.000268	T	0.63792	0.2541	M	0.69358	2.11	0.20307	N	0.999915	D;D	0.71674	0.998;0.986	D;D	0.66497	0.944;0.934	T	0.59101	-0.7517	10	0.62326	D	0.03	.	12.4952	0.55923	0.0:0.9233:0.0:0.0767	.	333;414	B4DI67;O95803	.;NDST3_HUMAN	M	414;333	ENSP00000296499:T414M;ENSP00000396625:T333M	ENSP00000296499:T414M	T	+	2	0	NDST3	119278673	0.975000	0.34042	0.599000	0.28851	0.376000	0.30014	2.579000	0.46059	2.519000	0.84933	0.557000	0.71058	ACG		0.433	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		6	147	0	0	0	0	6	147				
PRSS48	345062	broad.mit.edu	37	4	152203446	152203446	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:152203446C>T	ENST00000455694.2	+	3	364	c.362C>T	c.(361-363)tCc>tTc	p.S121F	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	121	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						TTGAAACTGTCCTCTCAAGTC	0.498																																						uc011cif.1		NA																	0				large_intestine(1)	1						c.(361-363)TCC>TTC		epidermis-specific serine protease-like protein							241.0	230.0	233.0					4																	152203446		2079	4219	6298	SO:0001583	missense	345062				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr4:152203446C>T	BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"""Serine peptidases / Serine peptidases"""	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.362C>T	4.37:g.152203446C>T	ENSP00000401328:p.Ser121Phe					PRSS48_uc011cig.1_Intron	p.S121F	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN			3	362	+			121			Peptidase S1.		Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	c.362C>T	CCDS47145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.647|3.647	-0.072421|-0.072421	0.07228|0.07228	.|.	.|.	ENSG00000189099|ENSG00000189099	ENST00000530477|ENST00000455694	.|D	.|0.89681	.|-2.55	3.76|3.76	-5.49|-5.49	0.02584|0.02584	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.|1.013330	.|0.07945	.|N	.|0.979907	D|D	0.87309|0.87309	0.6145|0.6145	M|M	0.89840|0.89840	3.065|3.065	0.09310|0.09310	N|N	1|1	.|B	.|0.12630	.|0.006	.|B	.|0.15052	.|0.012	T|T	0.73173|0.73173	-0.4066|-0.4066	5|10	.|0.48119	.|T	.|0.1	.|.	3.2701|3.2701	0.06879|0.06879	0.1317:0.4997:0.1042:0.2644|0.1317:0.4997:0.1042:0.2644	.|.	.|121	.|Q7RTY5	.|PRS48_HUMAN	S|F	104|121	.|ENSP00000401328:S121F	.|ENSP00000401328:S121F	P|S	+|+	1|2	0|0	PRSS48|PRSS48	152422896|152422896	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.048000|0.048000	0.14542|0.14542	-2.351000|-2.351000	0.01092|0.01092	-1.296000|-1.296000	0.02353|0.02353	-1.031000|-1.031000	0.02408|0.02408	CCT|TCC		0.498	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375		46	215	0	0	0	0	46	215				
FBXW7	55294	broad.mit.edu	37	4	153250883	153250883	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:153250883G>A	ENST00000281708.4	-	8	2406	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R313*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R393*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R275*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R217*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R393*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	393					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.R393*(7)|p.R313*(1)|p.R154*(1)|p.?(1)|p.R275*(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)				CTAACTATTCGGTTACCACAA	0.343			"""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		11	Substitution - Nonsense(10)|Unknown(1)	p.R393*(5)	endometrium(5)|large_intestine(4)|haematopoietic_and_lymphoid_tissue(1)|stomach(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.(1177-1179)CGA>TGA		F-box and WD repeat domain containing 7 isoform							118.0	107.0	111.0					4																	153250883		2203	4300	6503	SO:0001587	stop_gained	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.chr4:153250883G>A	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.1177C>T	4.37:g.153250883G>A	ENSP00000281708:p.Arg393*					FBXW7_uc011cii.1_Nonsense_Mutation_p.R393*|FBXW7_uc003imt.2_Nonsense_Mutation_p.R393*|FBXW7_uc011cih.1_Nonsense_Mutation_p.R217*|FBXW7_uc003imq.2_Nonsense_Mutation_p.R313*|FBXW7_uc003imr.2_Nonsense_Mutation_p.R275*	p.R393*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			8	1326	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	393			WD 1.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	c.1177C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966716	0.74131	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.99	4.05	0.47172	.	0.053576	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7554	12.3616	0.55207	0.0:0.0953:0.6907:0.214	.	.	.	.	X	393;275;313;217	.	ENSP00000263981:R313X	R	-	1	2	FBXW7	153470333	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.416000	0.66417	1.513000	0.48852	0.650000	0.86243	CGA		0.343	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			90	45	0	0	0	0	90	45				
DNAH5	1767	broad.mit.edu	37	5	13841896	13841896	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:13841896G>C	ENST00000265104.4	-	33	5493	c.5389C>G	c.(5389-5391)Cag>Gag	p.Q1797E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1797	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)			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)					AATGAGGACTGAGATTCTTCC	0.438									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(5389-5391)CAG>GAG		dynein, axonemal, heavy chain 5							123.0	122.0	123.0					5																	13841896		2203	4300	6503	SO:0001583	missense	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.chr5:13841896G>C	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.5389C>G	5.37:g.13841896G>C	ENSP00000265104:p.Gln1797Glu						p.Q1797E	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			33	5431	-	Lung NSC(4;0.00476)		1797			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.5389C>G	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119002	0.37436	.	.	ENSG00000039139	ENST00000265104	T	0.60548	0.18	5.82	4.94	0.65067	Dynein heavy chain, domain-2 (1);	0.113691	0.64402	D	0.000009	T	0.71005	0.3289	M	0.88640	2.97	0.58432	D	0.999998	B	0.26002	0.139	B	0.37731	0.257	T	0.73075	-0.4097	10	0.56958	D	0.05	.	16.299	0.82800	0.0:0.0:0.8665:0.1334	.	1797	Q8TE73	DYH5_HUMAN	E	1797	ENSP00000265104:Q1797E	ENSP00000265104:Q1797E	Q	-	1	0	DNAH5	13894896	1.000000	0.71417	1.000000	0.80357	0.146000	0.21551	6.718000	0.74713	1.444000	0.47605	-0.182000	0.12963	CAG		0.438	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		30	143	0	0	0	0	30	143				
RHOBTB3	22836	broad.mit.edu	37	5	95103849	95103849	+	Missense_Mutation	SNP	G	G	A	rs368331385		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:95103849G>A	ENST00000379982.3	+	8	1769	c.1261G>A	c.(1261-1263)Gat>Aat	p.D421N	GLRX_ENST00000508780.1_Intron|RHOBTB3_ENST00000504179.1_Missense_Mutation_p.D52N	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	421	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.|Interaction with Rab9.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GATGCTTGCCGATGTTGTCTT	0.343																																						uc003klm.2		NA																	0				lung(1)|skin(1)	2						c.(1261-1263)GAT>AAT		rho-related BTB domain containing 3		G	ASN/ASP	0,4406		0,0,2203	114.0	118.0	117.0		1261	6.0	1.0	5		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	RHOBTB3	NM_014899.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	421/612	95103849	1,13005	2203	4300	6503	SO:0001583	missense	22836				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding	g.chr5:95103849G>A	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.1261G>A	5.37:g.95103849G>A	ENSP00000369318:p.Asp421Asn						p.D421N	NM_014899	NP_055714	O94955	RHBT3_HUMAN		all cancers(79;8.79e-16)	8	1798	+		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	421			BTB 2.|Interaction with Rab9.		A0PJA4|A8K1W9|Q8IW06	Missense_Mutation	SNP	ENST00000379982.3	37	c.1261G>A	CCDS4077.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073168	0.76415	0.0	1.16E-4	ENSG00000164292	ENST00000379982;ENST00000504179	T;T	0.69175	-0.38;-0.38	6.02	6.02	0.97574	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.88727	0.6515	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91917	0.5544	10	0.87932	D	0	-4.6322	17.454	0.87602	0.0:0.0:1.0:0.0	.	421	O94955	RHBT3_HUMAN	N	421;52	ENSP00000369318:D421N;ENSP00000422360:D52N	ENSP00000369318:D421N	D	+	1	0	RHOBTB3	95129605	1.000000	0.71417	1.000000	0.80357	0.399000	0.30720	5.374000	0.66167	2.857000	0.98124	0.650000	0.86243	GAT		0.343	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241658.1	NM_014899		30	119	0	0	0	0	30	119				
CXXC5	51523	broad.mit.edu	37	5	139060915	139060915	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:139060915C>T	ENST00000302517.3	+	2	1521	c.807C>T	c.(805-807)tgC>tgT	p.C269C	CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Silent_p.C269C	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	269					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCCCTGCCGGCGGCGCA	0.572																																						uc010jfg.1		NA																	0				central_nervous_system(1)	1						c.(805-807)TGC>TGT		CXXC finger 5							58.0	68.0	65.0					5																	139060915		2022	4173	6195	SO:0001819	synonymous_variant	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139060915C>T	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"""retinoid-inducible nuclear factor"", ""WT1-induced Inhibitor of Dishevelled"""	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.807C>T	5.37:g.139060915C>T						CXXC5_uc003let.2_Silent_p.C269C	p.C269C	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1097	+			269			CXXC-type.		B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Silent	SNP	ENST00000302517.3	37	c.807C>T	CCDS43370.1																																																																																				0.572	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		4	115	0	0	0	0	4	115				
PCDHB5	26167	broad.mit.edu	37	5	140517292	140517292	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:140517292G>T	ENST00000231134.5	+	1	2493	c.2276G>T	c.(2275-2277)gGg>gTg	p.G759V		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	759					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGACTCAGGGGCCGGCGAG	0.582																																						uc003liq.2		NA																	0				skin(3)|ovary(2)	5						c.(2275-2277)GGG>GTG		protocadherin beta 5 precursor							108.0	131.0	123.0					5																	140517292		2200	4300	6500	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140517292G>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.2276G>T	5.37:g.140517292G>T	ENSP00000231134:p.Gly759Val						p.G759V	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2493	+			759			Cytoplasmic (Potential).		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.2276G>T	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	9.914	1.210293	0.22289	.	.	ENSG00000113209	ENST00000231134	T	0.51574	0.7	4.38	2.59	0.31030	.	.	.	.	.	T	0.60183	0.2249	M	0.92459	3.31	0.09310	N	0.999997	P	0.45428	0.858	P	0.48901	0.594	T	0.57670	-0.7771	9	0.66056	D	0.02	.	2.8932	0.05682	0.1487:0.1169:0.5423:0.192	.	759	Q9Y5E4	PCDB5_HUMAN	V	759	ENSP00000231134:G759V	ENSP00000231134:G759V	G	+	2	0	PCDHB5	140497476	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.731000	0.26058	0.427000	0.26145	0.505000	0.49811	GGG		0.582	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		9	242	1	0	9.7e-10	1.05e-09	9	242				
RELL2	285613	broad.mit.edu	37	5	141019628	141019628	+	Silent	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:141019628G>C	ENST00000297164.3	+	5	1845	c.645G>C	c.(643-645)ggG>ggC	p.G215G	RELL2_ENST00000444782.1_Silent_p.G215G|RELL2_ENST00000518856.1_Silent_p.G149G|RELL2_ENST00000518025.1_3'UTR|FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000521367.1_Silent_p.G149G|FCHSD1_ENST00000523856.1_5'UTR	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	215					positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGGCAGGGATGCCTGCCA	0.677																																						uc003lli.2		NA																	0					0						c.(643-645)GGG>GGC		RELT-like 2							27.0	30.0	29.0					5																	141019628		2203	4299	6502	SO:0001819	synonymous_variant	285613					integral to membrane|plasma membrane		g.chr5:141019628G>C	AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"""chromosome 5 open reading frame 16"""	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.645G>C	5.37:g.141019628G>C						RELL2_uc003llh.2_Silent_p.G215G|RELL2_uc003llg.2_Silent_p.G149G|RELL2_uc010jgf.2_Silent_p.G149G|FCHSD1_uc010jgg.2_3'UTR|FCHSD1_uc003llj.2_RNA|FCHSD1_uc003llk.2_3'UTR	p.G215G	NM_001130029	NP_001123501	Q8NC24	RELL2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		6	1493	+			215					D3DQE2|Q6P4E7|Q6UXY2	Silent	SNP	ENST00000297164.3	37	c.645G>C	CCDS4265.1																																																																																				0.677	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251807.2	NM_173828		12	30	0	0	0	0	12	30				
DTNBP1	84062	broad.mit.edu	37	6	15523422	15523422	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:15523422C>G	ENST00000344537.5	-	10	1012	c.840G>C	c.(838-840)gaG>gaC	p.E280D	DTNBP1_ENST00000462989.2_Missense_Mutation_p.E124D|DTNBP1_ENST00000355917.3_Missense_Mutation_p.E281D	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	280	Dysbindin.				actin cytoskeleton reorganization (GO:0031532)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|neuron projection morphogenesis (GO:0048812)|platelet dense granule organization (GO:0060155)|positive regulation of gene expression (GO:0010628)|positive regulation of neurotransmitter secretion (GO:0001956)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of dopamine secretion (GO:0014059)	axon (GO:0030424)|BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|growth cone (GO:0030426)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)|synaptic vesicle membrane (GO:0030672)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GGAGGGTAATCTCATTCTGAC	0.498									Hermansky-Pudlak syndrome																													uc003nbm.2		NA																	0					0						c.(838-840)GAG>GAC		dystrobrevin binding protein 1 isoform a							126.0	136.0	133.0					6																	15523422		2203	4300	6503	SO:0001583	missense	84062	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding	g.chr6:15523422C>G	AF394226	CCDS4534.1, CCDS4535.1, CCDS75404.1, CCDS75405.1	6p22.3	2013-09-27			ENSG00000047579	ENSG00000047579		"""Biogenesis of lysosomal organelles complex-1 subunits"""	17328	protein-coding gene	gene with protein product	"""dysbindin-1"", ""biogenesis of lysosomal organelles complex-1, subunit 8"""	607145				11316798	Standard	NM_032122		Approved	Dysbindin, My031, HPS7, DBND, BLOC1S8	uc003nbm.3	Q96EV8	OTTHUMG00000014295	ENST00000344537.5:c.840G>C	6.37:g.15523422C>G	ENSP00000341680:p.Glu280Asp					DTNBP1_uc003nbl.2_Missense_Mutation_p.E199D|DTNBP1_uc003nbn.2_RNA|DTNBP1_uc003nbo.2_RNA	p.E280D	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Epithelial(50;0.211)		10	1011	-	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	280			Dysbindin.		A8K3V3|Q5THY3|Q5THY4|Q96NV2|Q9H0U2|Q9H3J5	Missense_Mutation	SNP	ENST00000344537.5	37	c.840G>C	CCDS4534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.45|17.45	3.392610|3.392610	0.62066|0.62066	.|.	.|.	ENSG00000047579|ENSG00000047579	ENST00000344537;ENST00000462989;ENST00000355917;ENST00000397306;ENST00000509674|ENST00000511762	T;T;T;T|.	0.35236|.	1.32;1.33;1.32;1.36|.	5.48|5.48	1.81|1.81	0.25067|0.25067	.|.	0.109679|.	0.40302|.	N|.	0.001138|.	T|T	0.41858|0.41858	0.1177|0.1177	M|M	0.61703|0.61703	1.905|1.905	0.38702|0.38702	D|D	0.953019|0.953019	P|.	0.37781|.	0.608|.	B|.	0.43445|.	0.42|.	T|T	0.35525|0.35525	-0.9785|-0.9785	10|6	0.33940|0.36615	T|T	0.23|0.2	-13.2136|-13.2136	4.4692|4.4692	0.11704|0.11704	0.0:0.3137:0.1658:0.5205|0.0:0.3137:0.1658:0.5205	.|.	280|.	Q96EV8|.	DTBP1_HUMAN|.	D|T	280;124;281;199;97|239	ENSP00000341680:E280D;ENSP00000427239:E124D;ENSP00000348183:E281D;ENSP00000421797:E97D|.	ENSP00000341680:E280D|ENSP00000427473:R239T	E|R	-|-	3|2	2|0	DTNBP1|DTNBP1	15631401|15631401	0.840000|0.840000	0.29493|0.29493	0.003000|0.003000	0.11579|0.11579	0.856000|0.856000	0.48823|0.48823	-0.065000|-0.065000	0.11617|0.11617	0.364000|0.364000	0.24374|0.24374	-0.367000|-0.367000	0.07326|0.07326	GAG|AGA		0.498	DTNBP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000039933.2	NM_032122		54	167	0	0	0	0	54	167				
HIST1H3E	8353	broad.mit.edu	37	6	26225622	26225622	+	Missense_Mutation	SNP	G	G	C	rs199939187		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:26225622G>C	ENST00000360408.1	+	1	240	c.240G>C	c.(238-240)aaG>aaC	p.K80N		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	80					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				AGGACTTCAAGACCGACCTGC	0.597																																						uc003nhb.2		NA																	0					0						c.(238-240)AAG>AAC		histone cluster 1, H3f							74.0	72.0	73.0					6																	26225622		2203	4300	6503	SO:0001583	missense	8353				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26225622G>C	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"""Histones / Replication-dependent"""	4769	protein-coding gene	gene with protein product		602813	"""H3 histone family, member D"", ""histone 1, H3e"""	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.240G>C	6.37:g.26225622G>C	ENSP00000353581:p.Lys80Asn					HIST1H3E_uc003nhc.3_Missense_Mutation_p.K80N	p.K80N	NM_021018	NP_066298	P68431	H31_HUMAN			2	600	+		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)	80					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000360408.1	37	c.240G>C	CCDS4596.1	.	.	.	.	.	.	.	.	.	.	.	11.41	1.631410	0.28978	.	.	ENSG00000196966	ENST00000360408	T	0.68765	-0.35	4.54	2.74	0.32292	.	.	.	.	.	T	0.62073	0.2398	.	.	.	0.38273	D	0.942217	.	.	.	.	.	.	T	0.65352	-0.6189	6	0.66056	D	0.02	.	9.2486	0.37541	0.0808:0.1463:0.773:0.0	.	.	.	.	N	80	ENSP00000353581:K80N	ENSP00000353581:K80N	K	+	3	2	HIST1H3E	26333601	1.000000	0.71417	1.000000	0.80357	0.052000	0.14988	4.573000	0.60893	0.659000	0.30945	-0.339000	0.08088	AAG		0.597	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1	NM_003532		29	84	0	0	0	0	29	84				
KIF6	221458	broad.mit.edu	37	6	39563898	39563898	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:39563898T>G	ENST00000287152.7	-	7	872	c.778A>C	c.(778-780)Act>Cct	p.T260P	KIF6_ENST00000538893.1_Missense_Mutation_p.T260P|KIF6_ENST00000373213.4_Missense_Mutation_p.T99P|KIF6_ENST00000373215.3_Missense_Mutation_p.T260P|KIF6_ENST00000373216.3_Missense_Mutation_p.T260P	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	260	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCTACTCCAGTCTTTGCAACT	0.448																																						uc003oot.2		NA																	0				breast(2)|central_nervous_system(1)	3						c.(778-780)ACT>CCT		kinesin family member 6							119.0	108.0	112.0					6																	39563898		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39563898T>G	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.778A>C	6.37:g.39563898T>G	ENSP00000287152:p.Thr260Pro					KIF6_uc010jxa.1_Missense_Mutation_p.T51P|KIF6_uc011dua.1_Missense_Mutation_p.T260P|KIF6_uc010jxb.1_Missense_Mutation_p.T260P	p.T260P	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			7	873	-			260			Kinesin-motor.		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.778A>C	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.0|23.0	4.360152|4.360152	0.82353|0.82353	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000458470|ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893;ENST00000441975;ENST00000373211	.|T;T;T;T;T;T	.|0.77489	.|-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.98|5.98	5.98|5.98	0.97165|0.97165	.|Kinesin, motor domain (5);	.|.	.|.	.|.	.|.	D|D	0.91690|0.91690	0.7373|0.7373	H|H	0.98314|0.98314	4.2|4.2	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.64830	.|0.993;0.993;0.993;0.994	.|D;D;D;D	.|0.70016	.|0.943;0.956;0.967;0.966	D|D	0.94580|0.94580	0.7778|0.7778	5|9	.|0.87932	.|D	.|0	.|.	14.7079|14.7079	0.69206|0.69206	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|260;260;260;260	.|E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9	.|.;.;.;KIF6_HUMAN	S|P	151|260;260;99;260;260;47;51	.|ENSP00000287152:T260P;ENSP00000362312:T260P;ENSP00000362309:T99P;ENSP00000362311:T260P;ENSP00000441435:T260P;ENSP00000404856:T47P	.|ENSP00000287152:T260P	R|T	-|-	3|1	2|0	KIF6|KIF6	39671876|39671876	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.837000|0.837000	0.47467|0.47467	5.082000|5.082000	0.64450|0.64450	2.288000|2.288000	0.76882|0.76882	0.528000|0.528000	0.53228|0.53228	AGA|ACT		0.448	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		4	105	0	0	0	0	4	105				
USP49	25862	broad.mit.edu	37	6	41773477	41773477	+	Silent	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:41773477G>C	ENST00000394253.3	-	3	1574	c.1245C>G	c.(1243-1245)ctC>ctG	p.L415L	USP49_ENST00000373010.1_Silent_p.L415L|USP49_ENST00000373009.3_Silent_p.L415L|USP49_ENST00000297229.2_Silent_p.L415L|USP49_ENST00000373006.1_Silent_p.L415L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	415	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTCAGACTCGAGTTCCTGCT	0.572																																						uc003ori.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1243-1245)CTC>CTG		ubiquitin thioesterase 49							63.0	61.0	62.0					6																	41773477		2203	4300	6503	SO:0001819	synonymous_variant	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41773477G>C	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1245C>G	6.37:g.41773477G>C							p.L415L	NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		4	1467	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		415					Q5T3D9|Q5T3E0|Q96CK4	Silent	SNP	ENST00000394253.3	37	c.1245C>G																																																																																					0.572	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		24	92	0	0	0	0	24	92				
CUL9	23113	broad.mit.edu	37	6	43152613	43152613	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:43152613A>G	ENST00000252050.4	+	2	649	c.565A>G	c.(565-567)Atg>Gtg	p.M189V	CUL9_ENST00000372647.2_Missense_Mutation_p.M189V|CUL9_ENST00000354495.3_Missense_Mutation_p.M189V	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	189					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGCAGGCAAAATGCTGCAGGC	0.567																																						uc003ouk.2		NA																	0				ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(565-567)ATG>GTG		p53-associated parkin-like cytoplasmic protein							27.0	29.0	29.0					6																	43152613		2199	4288	6487	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43152613A>G	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.565A>G	6.37:g.43152613A>G	ENSP00000252050:p.Met189Val					CUL9_uc003ouj.1_Missense_Mutation_p.M189V|CUL9_uc003oul.2_Missense_Mutation_p.M189V|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank	p.M189V	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			2	640	+			189					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.565A>G	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.221308	0.39300	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.34859	1.34;1.34;1.34	3.81	2.61	0.31194	Armadillo-like helical (1);	0.108656	0.64402	D	0.000020	T	0.11623	0.0283	L	0.34521	1.04	0.26692	N	0.971339	B;B;P	0.35745	0.243;0.243;0.518	B;B;B	0.33454	0.079;0.079;0.164	T	0.06092	-1.0846	10	0.87932	D	0	-17.7107	9.5997	0.39596	0.843:0.0:0.0:0.157	.	189;189;189	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	V	189	ENSP00000252050:M189V;ENSP00000346490:M189V;ENSP00000361730:M189V	ENSP00000252050:M189V	M	+	1	0	CUL9	43260591	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.206000	0.77891	0.594000	0.29761	0.260000	0.18958	ATG		0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		16	28	0	0	0	0	16	28				
ECHDC1	55862	broad.mit.edu	37	6	127648182	127648182	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:127648182C>T	ENST00000531967.1	-	3	849	c.346G>A	c.(346-348)Gat>Aat	p.D116N	ECHDC1_ENST00000528402.1_Missense_Mutation_p.D35N|ECHDC1_ENST00000454859.3_Missense_Mutation_p.D110N|ECHDC1_ENST00000368291.2_Missense_Mutation_p.D110N|ECHDC1_ENST00000309620.9_Missense_Mutation_p.D110N|ECHDC1_ENST00000430841.2_Missense_Mutation_p.D110N|ECHDC1_ENST00000474289.2_Missense_Mutation_p.D110N|ECHDC1_ENST00000368289.2_Missense_Mutation_p.D110N|ECHDC1_ENST00000454591.2_Missense_Mutation_p.D35N	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	116						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		GCATTCAGATCAGATCCTGAA	0.378																																						uc003qax.2		NA																	0					0						c.(346-348)GAT>AAT		enoyl Coenzyme A hydratase domain containing 1							124.0	116.0	119.0					6																	127648182		2203	4300	6503	SO:0001583	missense	55862						catalytic activity	g.chr6:127648182C>T	AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"""enoyl Coenzyme A hydratase domain containing 1"""			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.346G>A	6.37:g.127648182C>T	ENSP00000436585:p.Asp116Asn					ECHDC1_uc003qaz.3_Missense_Mutation_p.D110N|ECHDC1_uc010key.2_Missense_Mutation_p.D35N|ECHDC1_uc003qay.3_Missense_Mutation_p.D110N|ECHDC1_uc010kez.2_Missense_Mutation_p.D35N|ECHDC1_uc010kex.2_RNA	p.D116N	NM_001139510	NP_001132982	Q9NTX5	ECHD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)	3	382	-			116					A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Missense_Mutation	SNP	ENST00000531967.1	37	c.346G>A	CCDS47471.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357874	0.82243	.	.	ENSG00000093144	ENST00000454859;ENST00000531967;ENST00000368293;ENST00000368290;ENST00000474289;ENST00000528402;ENST00000454591;ENST00000368291;ENST00000309620;ENST00000430841;ENST00000368289;ENST00000525745;ENST00000534442;ENST00000531582	D;D;D;D;D;D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.29	4.43	0.53597	Crotonase, core (1);	0.000000	0.85682	D	0.000000	D	0.91168	0.7218	M	0.85542	2.76	0.54753	D	0.99998	B;D;D	0.89917	0.197;1.0;0.998	B;D;D	0.87578	0.119;0.998;0.986	D	0.92832	0.6281	10	0.87932	D	0	-5.1919	13.9979	0.64414	0.0:0.9278:0.0:0.0722	.	35;110;116	E9PR31;Q5TEF6;Q9NTX5	.;.;ECHD1_HUMAN	N	110;116;42;110;110;35;35;110;110;110;110;110;110;110	ENSP00000401751:D110N;ENSP00000436585:D116N;ENSP00000434908:D110N;ENSP00000436109:D35N;ENSP00000404866:D35N;ENSP00000357274:D110N;ENSP00000311115:D110N;ENSP00000402492:D110N;ENSP00000357272:D110N;ENSP00000435068:D110N;ENSP00000435502:D110N;ENSP00000434143:D110N	ENSP00000311115:D110N	D	-	1	0	ECHDC1	127689875	1.000000	0.71417	0.950000	0.38849	0.972000	0.66771	4.642000	0.61383	1.476000	0.48215	0.561000	0.74099	GAT		0.378	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042131.2			23	138	0	0	0	0	23	138				
RAET1L	154064	broad.mit.edu	37	6	150342164	150342164	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:150342164C>G	ENST00000367341.1	-	3	507	c.508G>C	c.(508-510)Gaa>Caa	p.E170Q	RAET1L_ENST00000286380.2_Missense_Mutation_p.E170Q			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	170	MHC class I alpha-2 like. {ECO:0000250}.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		TCCCACTTTTCTTTCATCTTT	0.473																																						uc011eei.1		NA																	0					0						c.(508-510)GAA>CAA		retinoic acid early transcript 1L precursor							286.0	252.0	263.0					6																	150342164		2203	4300	6503	SO:0001583	missense	154064				antigen processing and presentation|immune response	anchored to membrane|MHC class I protein complex		g.chr6:150342164C>G	AY039682	CCDS5224.1	6q24.1-25.1	2008-02-05			ENSG00000155918	ENSG00000155918			16798	protein-coding gene	gene with protein product		611047				11827464	Standard	NM_130900		Approved		uc011eei.2	Q5VY80	OTTHUMG00000015809	ENST00000367341.1:c.508G>C	6.37:g.150342164C>G	ENSP00000356310:p.Glu170Gln						p.E170Q	NM_130900	NP_570970	Q5VY80	RET1L_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)	3	569	-		Ovarian(120;0.028)	170			MHC class I alpha-2 like (By similarity).		A3KME4|Q8TE74	Missense_Mutation	SNP	ENST00000367341.1	37	c.508G>C	CCDS5224.1	.	.	.	.	.	.	.	.	.	.	c	11.78	1.740768	0.30865	.	.	ENSG00000155918	ENST00000367341;ENST00000286380	T;T	0.64618	-0.11;-0.11	1.91	1.02	0.19986	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.50616	0.1626	M	0.66939	2.045	0.09310	N	1	P	0.45283	0.855	P	0.52159	0.691	T	0.45175	-0.9279	9	0.72032	D	0.01	.	4.3512	0.11157	0.0:0.7918:0.0:0.2082	.	170	Q5VY80	RET1L_HUMAN	Q	170	ENSP00000356310:E170Q;ENSP00000286380:E170Q	ENSP00000286380:E170Q	E	-	1	0	RAET1L	150383857	0.001000	0.12720	0.001000	0.08648	0.097000	0.18754	1.132000	0.31418	0.365000	0.24400	0.491000	0.48974	GAA		0.473	RAET1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042676.1	NM_130900		64	202	0	0	0	0	64	202				
WDR27	253769	broad.mit.edu	37	6	170060767	170060767	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:170060767T>C	ENST00000448612.1	-	10	1230	c.1121A>G	c.(1120-1122)tAt>tGt	p.Y374C	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000423258.1_Missense_Mutation_p.Y247C|WDR27_ENST00000333572.6_Missense_Mutation_p.Y374C	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	344						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		ACCCTTGTAATACAAAGCAGC	0.443																																						uc003qwx.2		NA																	0				pancreas(1)	1						c.(1120-1122)TAT>TGT		RecName: Full=WD repeat-containing protein 27;							118.0	116.0	116.0					6																	170060767		1948	4145	6093	SO:0001583	missense	253769							g.chr6:170060767T>C	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.1121A>G	6.37:g.170060767T>C	ENSP00000416289:p.Tyr374Cys					WDR27_uc003qwv.1_RNA|WDR27_uc010kkw.1_Missense_Mutation_p.Y374C|WDR27_uc003qwy.2_Missense_Mutation_p.Y247C|WDR27_uc003qwz.1_Missense_Mutation_p.Y107C|WDR27_uc011egw.1_RNA	p.Y374C			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	10	1641	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	344					A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	ENST00000448612.1	37	c.1121A>G	CCDS47520.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.387|8.387	0.838820|0.838820	0.16891|0.16891	.|.	.|.	ENSG00000184465|ENSG00000184465	ENST00000441385|ENST00000448612;ENST00000333572;ENST00000423258	.|T;T;D	.|0.95821	.|1.92;2.17;-3.82	5.4|5.4	-3.71|-3.71	0.04424|0.04424	.|.	.|1.194340	.|0.05802	.|N	.|0.612390	D|D	0.86264|0.86264	0.5891|0.5891	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|P;P;D;B	.|0.65815	.|0.913;0.913;0.995;0.003	.|B;B;P;B	.|0.53809	.|0.408;0.408;0.735;0.003	T|T	0.81324|0.81324	-0.0984|-0.0984	5|10	.|0.38643	.|T	.|0.18	-3.6157|-3.6157	6.0272|6.0272	0.19662|0.19662	0.1282:0.3604:0.0:0.5114|0.1282:0.3604:0.0:0.5114	.|.	.|374;344;247;374	.|F2Z2U5;A2RRH5;A2RRH5-2;C9JGV0	.|.;WDR27_HUMAN;.;.	V|C	8|374;374;247	.|ENSP00000416289:Y374C;ENSP00000330265:Y374C;ENSP00000397869:Y247C	.|ENSP00000330265:Y374C	I|Y	-|-	1|2	0|0	WDR27|WDR27	169802692|169802692	0.004000|0.004000	0.15560|0.15560	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.792000|-0.792000	0.04594|0.04594	-0.579000|-0.579000	0.05952|0.05952	0.533000|0.533000	0.62120|0.62120	ATT|TAT		0.443	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		16	49	0	0	0	0	16	49				
HOXA2	3199	broad.mit.edu	37	7	27140524	27140524	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:27140524C>T	ENST00000222718.5	-	2	1262	c.952G>A	c.(952-954)Gag>Aag	p.E318K	HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000428939.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	318					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						GAGGGGACCTCAAGGGCCTCA	0.522																																						uc003syh.2		NA																	0				ovary(1)|skin(1)	2						c.(952-954)GAG>AAG		homeobox A2							82.0	81.0	81.0					7																	27140524		2203	4300	6503	SO:0001583	missense	3199					nucleus	sequence-specific DNA binding transcription factor activity	g.chr7:27140524C>T		CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"""Homeoboxes / ANTP class : HOXL subclass"""	5103	protein-coding gene	gene with protein product		604685	"""homeo box A2"""	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.952G>A	7.37:g.27140524C>T	ENSP00000222718:p.Glu318Lys						p.E318K	NM_006735	NP_006726	O43364	HXA2_HUMAN			2	1227	-			318					A1L4K3|B2RMW3	Missense_Mutation	SNP	ENST00000222718.5	37	c.952G>A	CCDS5403.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653087	0.47362	.	.	ENSG00000105996	ENST00000222718	T	0.11277	2.79	4.89	4.89	0.63831	.	0.201106	0.49305	D	0.000149	T	0.10121	0.0248	N	0.22421	0.69	0.49915	D	0.999834	B	0.19200	0.034	B	0.21360	0.034	T	0.15263	-1.0443	10	0.42905	T	0.14	.	18.0474	0.89337	0.0:1.0:0.0:0.0	.	318	O43364	HXA2_HUMAN	K	318	ENSP00000222718:E318K	ENSP00000222718:E318K	E	-	1	0	HOXA2	27107049	1.000000	0.71417	0.979000	0.43373	0.970000	0.65996	5.720000	0.68470	2.415000	0.81967	0.655000	0.94253	GAG		0.522	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2			81	129	0	0	0	0	81	129				
POM121L12	285877	broad.mit.edu	37	7	53104019	53104019	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:53104019C>T	ENST00000408890.4	+	1	671	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	219										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCCTTCAAGCCCCTGAGCAA	0.632																																						uc003tpz.2		NA																	0					0						c.(655-657)CCC>TCC		POM121 membrane glycoprotein-like 12							46.0	55.0	52.0					7																	53104019		1967	4129	6096	SO:0001583	missense	285877							g.chr7:53104019C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.655C>T	7.37:g.53104019C>T	ENSP00000386133:p.Pro219Ser						p.P219S	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	671	+			219					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.655C>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	C	7.948	0.744208	0.15710	.	.	ENSG00000221900	ENST00000408890	T	0.17213	2.29	1.8	0.905	0.19307	.	.	.	.	.	T	0.19644	0.0472	L	0.49126	1.545	0.09310	N	1	P	0.40050	0.7	P	0.47134	0.539	T	0.15780	-1.0425	9	0.46703	T	0.11	.	4.2653	0.10761	0.0:0.79:0.0:0.21	.	219	Q8N7R1	P1L12_HUMAN	S	219	ENSP00000386133:P219S	ENSP00000386133:P219S	P	+	1	0	POM121L12	53071513	0.005000	0.15991	0.020000	0.16555	0.164000	0.22412	-0.140000	0.10342	0.330000	0.23485	-0.258000	0.10820	CCC		0.632	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		12	171	0	0	0	0	12	171				
ZNF804B	219578	broad.mit.edu	37	7	88962919	88962919	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:88962919C>T	ENST00000333190.4	+	4	1232	c.623C>T	c.(622-624)tCa>tTa	p.S208L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	208							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAAACATCTTCAGATCTCAGC	0.388										HNSCC(36;0.09)																												uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(622-624)TCA>TTA		zinc finger protein 804B							95.0	92.0	93.0					7																	88962919		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88962919C>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.623C>T	7.37:g.88962919C>T	ENSP00000329638:p.Ser208Leu	HNSCC(36;0.09)					p.S208L	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1161	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		208					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.623C>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801261	0.70567	.	.	ENSG00000182348	ENST00000333190	T	0.06142	3.34	5.3	5.3	0.74995	.	0.410556	0.20966	N	0.082465	T	0.11067	0.0270	L	0.48642	1.525	0.44603	D	0.997577	P	0.50272	0.933	B	0.44108	0.441	T	0.01424	-1.1358	10	0.72032	D	0.01	-3.6152	19.1532	0.93499	0.0:1.0:0.0:0.0	.	208	A4D1E1	Z804B_HUMAN	L	208	ENSP00000329638:S208L	ENSP00000329638:S208L	S	+	2	0	ZNF804B	88800855	0.998000	0.40836	0.998000	0.56505	0.925000	0.55904	4.990000	0.63876	2.775000	0.95449	0.650000	0.86243	TCA		0.388	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		26	83	0	0	0	0	26	83				
COG5	10466	broad.mit.edu	37	7	106877029	106877029	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:106877029C>G	ENST00000347053.3	-	17	2037	c.1987G>C	c.(1987-1989)Gaa>Caa	p.E663Q	COG5_ENST00000297135.3_Missense_Mutation_p.E684Q|COG5_ENST00000393603.2_Missense_Mutation_p.E684Q	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	663					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TCCAAGCATTCAAAGTGTTTA	0.413																																						uc003ved.2		NA																	0				central_nervous_system(2)|skin(2)	4						c.(1987-1989)GAA>CAA		component of oligomeric golgi complex 5 isoform							101.0	95.0	97.0					7																	106877029		2203	4300	6503	SO:0001583	missense	10466				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:106877029C>G	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1987G>C	7.37:g.106877029C>G	ENSP00000334703:p.Glu663Gln					COG5_uc003vec.2_Missense_Mutation_p.E684Q|COG5_uc003vee.2_Missense_Mutation_p.E684Q	p.E663Q	NM_181733	NP_859422	Q9UP83	COG5_HUMAN			17	2512	-			663					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.1987G>C	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.648029	0.47258	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.56275	0.47;0.47;0.47	5.72	5.72	0.89469	.	0.206654	0.51477	D	0.000086	T	0.41305	0.1153	N	0.20445	0.575	0.52501	D	0.999953	B;B	0.21147	0.006;0.052	B;B	0.16722	0.004;0.016	T	0.16689	-1.0394	10	0.22706	T	0.39	-14.88	19.884	0.96908	0.0:1.0:0.0:0.0	.	663;684	Q9UP83;Q9UP83-2	COG5_HUMAN;.	Q	663;684;684	ENSP00000334703:E663Q;ENSP00000297135:E684Q;ENSP00000377228:E684Q	ENSP00000297135:E684Q	E	-	1	0	COG5	106664265	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	5.955000	0.70306	2.702000	0.92279	0.650000	0.86243	GAA		0.413	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			26	75	0	0	0	0	26	75				
SLC26A3	1811	broad.mit.edu	37	7	107408040	107408040	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:107408040C>T	ENST00000340010.5	-	20	2439	c.2255G>A	c.(2254-2256)cGt>cAt	p.R752H	SLC26A3_ENST00000422236.2_Missense_Mutation_p.R639H	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	752					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TACCCGATTACGTAATCCTCC	0.343																																						uc003ver.2		NA																	0				ovary(3)|skin(1)	4						c.(2254-2256)CGT>CAT		solute carrier family 26, member 3							101.0	105.0	103.0					7																	107408040		2203	4299	6502	SO:0001583	missense	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107408040C>T	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.2255G>A	7.37:g.107408040C>T	ENSP00000345873:p.Arg752His					SLC26A3_uc003ves.2_Missense_Mutation_p.R639H	p.R752H	NM_000111	NP_000102	P40879	S26A3_HUMAN			20	2466	-			752						Missense_Mutation	SNP	ENST00000340010.5	37	c.2255G>A	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.415080	0.42817	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.94613	-3.47;-3.31	4.64	3.77	0.43336	.	0.392271	0.27961	N	0.017141	D	0.90013	0.6882	L	0.46885	1.475	0.25690	N	0.985706	B;B	0.29955	0.163;0.263	B;B	0.20767	0.029;0.031	T	0.81976	-0.0686	10	0.38643	T	0.18	.	10.1245	0.42641	0.0:0.9054:0.0:0.0946	.	639;752	G5E9U3;P40879	.;S26A3_HUMAN	H	639;752	ENSP00000415817:R639H;ENSP00000345873:R752H	ENSP00000345873:R752H	R	-	2	0	SLC26A3	107195276	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.672000	0.37523	1.185000	0.42971	0.644000	0.83932	CGT		0.343	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		18	29	0	0	0	0	18	29				
CPED1	79974	broad.mit.edu	37	7	120655860	120655860	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:120655860G>C	ENST00000310396.5	+	3	858	c.391G>C	c.(391-393)Gaa>Caa	p.E131Q	CPED1_ENST00000340646.5_Missense_Mutation_p.E131Q|CPED1_ENST00000450913.2_Missense_Mutation_p.E131Q|CPED1_ENST00000495036.1_3'UTR	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	131						endoplasmic reticulum (GO:0005783)											CATCGCTGAAGAAAGGCTCAA	0.463																																						uc003vjq.3		NA																	0				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(391-393)GAA>CAA		hypothetical protein LOC79974 isoform 1							74.0	59.0	64.0					7																	120655860		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120655860G>C		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.391G>C	7.37:g.120655860G>C	ENSP00000309772:p.Glu131Gln					C7orf58_uc003vjr.1_Missense_Mutation_p.E131Q|C7orf58_uc003vjs.3_Missense_Mutation_p.E131Q	p.E131Q	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			3	838	+	all_neural(327;0.117)		131					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.391G>C	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642300	0.47153	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000340646	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.84	5.84	0.93424	.	0.663561	0.15631	N	0.252372	T	0.59321	0.2185	M	0.62723	1.935	0.31536	N	0.660615	P;P	0.47841	0.828;0.901	P;P	0.46825	0.474;0.528	T	0.66901	-0.5806	10	0.56958	D	0.05	.	15.6393	0.76984	0.0:0.0:1.0:0.0	.	131;131	A4D0V7-2;A4D0V7	.;CG058_HUMAN	Q	131	ENSP00000309772:E131Q;ENSP00000398082:E131Q;ENSP00000406122:E131Q;ENSP00000345235:E131Q	ENSP00000309772:E131Q	E	+	1	0	C7orf58	120443096	0.995000	0.38212	0.207000	0.23584	0.149000	0.21700	2.224000	0.42945	2.751000	0.94390	0.591000	0.81541	GAA		0.463	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		11	24	0	0	0	0	11	24				
PIP	5304	broad.mit.edu	37	7	142832288	142832288	+	Splice_Site	SNP	C	C	T	rs376369577		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:142832288C>T	ENST00000291009.3	+	2	137	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	33					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CACAATCAGTCGGAAGATCAT	0.463																																						uc003wcf.1		NA																	0				ovary(1)	1						c.(97-99)CGG>TGG		prolactin-induced protein precursor		C	TRP/ARG	0,4406		0,0,2203	52.0	47.0	49.0		97	0.0	0.0	7		49	1,8597	1.2+/-3.3	0,1,4298	no	missense-near-splice	PIP	NM_002652.2	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	33/147	142832288	1,13003	2203	4299	6502	SO:0001630	splice_region_variant	5304					extracellular region	actin binding	g.chr7:142832288C>T		CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"""prolactin-inducible protein"""	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.96-1C>T	7.37:g.142832288C>T							p.R33W	NM_002652	NP_002643	P12273	PIP_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)	2	133	+	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)	33					A0A963|A0A9C3|A0A9F3|A4D2I1	Missense_Mutation	SNP	ENST00000291009.3	37	c.97C>T	CCDS34768.1	.	.	.	.	.	.	.	.	.	.	C	8.675	0.903680	0.17760	0.0	1.16E-4	ENSG00000159763	ENST00000291009	T	0.14640	2.49	4.2	0.0331	0.14178	.	0.625933	0.12805	N	0.437679	T	0.08980	0.0222	L	0.39397	1.21	0.09310	N	1	B	0.21452	0.056	B	0.15052	0.012	T	0.32877	-0.9890	10	0.51188	T	0.08	.	1.421	0.02312	0.172:0.4618:0.1673:0.1989	.	33	P12273	PIP_HUMAN	W	33	ENSP00000291009:R33W	ENSP00000291009:R33W	R	+	1	2	PIP	142542410	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.057000	0.14279	-0.096000	0.12329	-0.535000	0.04281	CGG		0.463	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327089.1	NM_002652	Missense_Mutation	7	23	0	0	0	0	7	23				
SLC4A2	6522	broad.mit.edu	37	7	150767612	150767613	+	Silent	DNP	GC	GC	TT			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:150767612_150767613GC>TT	ENST00000485713.1	+	11	2558_2559	c.1518_1519GC>TT	c.(1516-1521)ctGCtg>ctTTtg	p.506_507LL>LL	SLC4A2_ENST00000310317.5_Silent_p.424_425LL>LL|SLC4A2_ENST00000461735.1_Silent_p.492_493LL>LL|SLC4A2_ENST00000413384.2_Silent_p.506_507LL>LL|SLC4A2_ENST00000392826.2_Silent_p.497_498LL>LL	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	506					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCTGAAACTGCTGGAGAAGAT	0.629																																						uc003wit.3		NA																	0					0						c.(1516-1521)CTGCTG>CTTTTG		solute carrier family 4, anion exchanger, member																																				SO:0001819	synonymous_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150767612_150767613GC>TT		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	Exception_encountered	7.37:g.150767612_150767613delinsTT						SLC4A2_uc011kve.1_Silent_p.497_498LL>LL|SLC4A2_uc003wiu.3_Silent_p.492_493LL>LL|SLC4A2_uc003wiv.3_5'Flank	p.506_507LL>LL	NM_003040	NP_003031	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	11	1774_1775	+			506_507			Cytoplasmic (Potential).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Silent	DNP	ENST00000485713.1	37	c.1518_1519GC>TT	CCDS5917.1																																																																																				0.629	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		8	15	0	0	0	0	8	15				
ESYT2	57488	broad.mit.edu	37	7	158529772	158529772	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:158529772G>C	ENST00000251527.5	-	19	2512	c.2447C>G	c.(2446-2448)tCa>tGa	p.S816*	ESYT2_ENST00000435514.2_Nonsense_Mutation_p.S251*	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	844	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TGTTTTCTTTGACACGTGTGT	0.448																																						uc003wob.1		NA																	0				central_nervous_system(2)|kidney(1)	3						c.(2446-2448)TCA>TGA		family with sequence similarity 62 (C2 domain							233.0	206.0	215.0					7																	158529772		2203	4300	6503	SO:0001587	stop_gained	57488					integral to membrane|plasma membrane		g.chr7:158529772G>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.2447C>G	7.37:g.158529772G>C	ENSP00000251527:p.Ser816*					ESYT2_uc003wny.1_RNA|ESYT2_uc003wnz.1_Nonsense_Mutation_p.S255*|ESYT2_uc003woa.1_Nonsense_Mutation_p.S393*	p.S816*	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN			19	2513	-			844			C2 3.		A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Nonsense_Mutation	SNP	ENST00000251527.5	37	c.2447C>G	CCDS34791.1	.	.	.	.	.	.	.	.	.	.	G	37	6.205382	0.97376	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514	.	.	.	4.83	4.83	0.62350	.	0.539290	0.20157	N	0.098034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-11.0678	12.102	0.53790	0.0:0.0:0.8285:0.1715	.	.	.	.	X	816;865;807;251	.	ENSP00000251527:S816X	S	-	2	0	ESYT2	158222533	0.998000	0.40836	0.989000	0.46669	0.115000	0.19883	4.141000	0.58038	2.220000	0.72140	0.655000	0.94253	TCA		0.448	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728		31	137	0	0	0	0	31	137				
XKR4	114786	broad.mit.edu	37	8	56015393	56015393	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:56015393C>T	ENST00000327381.6	+	1	445	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	115						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCCTCTGGATCCTGGCCGCCG	0.746																																						uc003xsf.2		NA																	0				pancreas(2)	2						c.(343-345)ATC>ATT		XK, Kell blood group complex subunit-related							40.0	39.0	39.0					8																	56015393		2197	4297	6494	SO:0001819	synonymous_variant	114786					integral to membrane		g.chr8:56015393C>T	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.345C>T	8.37:g.56015393C>T							p.I115I	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		1	377	+			115			Helical; (Potential).		Q96PZ8	Silent	SNP	ENST00000327381.6	37	c.345C>T	CCDS34893.1																																																																																				0.746	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		42	48	0	0	0	0	42	48				
PENK	5179	broad.mit.edu	37	8	57354258	57354258	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:57354258G>T	ENST00000314922.3	-	2	453	c.377C>A	c.(376-378)gCc>gAc	p.A126D	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.A126D	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	126					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			ACTTCCATTGGCCTCTTCTTC	0.502																																						uc003xsz.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(376-378)GCC>GAC		proenkephalin							116.0	104.0	108.0					8																	57354258		2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57354258G>T		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.377C>A	8.37:g.57354258G>T	ENSP00000324248:p.Ala126Asp					PENK_uc003xta.3_Missense_Mutation_p.A126D	p.A126D	NM_006211	NP_006202	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	458	-		all_lung(136;0.229)	126					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.377C>A	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	G	4.457	0.084683	0.08583	.	.	ENSG00000181195	ENST00000539312;ENST00000314922;ENST00000451791	T;T	0.18016	2.24;2.24	5.71	3.55	0.40652	.	0.411820	0.28279	N	0.015934	T	0.06508	0.0167	N	0.04880	-0.145	0.09310	N	0.999998	B	0.09022	0.002	B	0.04013	0.001	T	0.38308	-0.9667	10	0.11794	T	0.64	-10.1214	6.436	0.21823	0.08:0.1319:0.6527:0.1354	.	126	P01210	PENK_HUMAN	D	126	ENSP00000324248:A126D;ENSP00000400894:A126D	ENSP00000324248:A126D	A	-	2	0	PENK	57516812	0.548000	0.26473	0.799000	0.32177	0.964000	0.63967	2.054000	0.41335	1.371000	0.46172	0.655000	0.94253	GCC		0.502	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			53	205	1	0	4.17e-34	4.65e-34	53	205				
BHLHE22	27319	broad.mit.edu	37	8	65494156	65494156	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:65494156C>T	ENST00000321870.1	+	1	1343	c.809C>T	c.(808-810)cCc>cTc	p.P270L	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	270	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						GCGGTGATCCCCTACGCGCAC	0.637																																					Colon(113;104 1586 2865 9855 18065)	uc003xvi.2		NA																	0					0						c.(808-810)CCC>CTC		basic helix-loop-helix domain containing, class							26.0	25.0	25.0					8																	65494156		2202	4300	6502	SO:0001583	missense	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65494156C>T	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.809C>T	8.37:g.65494156C>T	ENSP00000318799:p.Pro270Leu					LOC401463_uc003xvh.2_Intron	p.P270L	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN			1	1343	+			270			Helix-loop-helix motif.			Missense_Mutation	SNP	ENST00000321870.1	37	c.809C>T	CCDS6179.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629575	0.67015	.	.	ENSG00000180828	ENST00000321870	D	0.97328	-4.34	4.01	4.01	0.46588	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	U	0.000003	D	0.98607	0.9534	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99758	1.1020	10	0.87932	D	0	-2.5416	15.9119	0.79479	0.0:1.0:0.0:0.0	.	270	Q8NFJ8	BHE22_HUMAN	L	270	ENSP00000318799:P270L	ENSP00000318799:P270L	P	+	2	0	BHLHE22	65656710	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.509000	0.67012	2.036000	0.60181	0.313000	0.20887	CCC		0.637	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		5	14	0	0	0	0	5	14				
DNAJC5B	85479	broad.mit.edu	37	8	66989019	66989019	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:66989019A>C	ENST00000276570.5	+	4	531	c.244A>C	c.(244-246)Aag>Cag	p.K82Q	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	82	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					membrane (GO:0016020)				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CATATACGACAAGTACGGATC	0.463																																						uc003xvs.1		NA																	0					0						c.(244-246)AAG>CAG		DnaJ (Hsp40) homolog, subfamily C, member 5							193.0	162.0	172.0					8																	66989019		2203	4300	6503	SO:0001583	missense	85479				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr8:66989019A>C	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.244A>C	8.37:g.66989019A>C	ENSP00000276570:p.Lys82Gln					DNAJC5B_uc003xvt.1_RNA	p.K82Q	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)		4	535	+		Lung NSC(129;0.114)|all_lung(136;0.188)	82			J.		Q969Y8	Missense_Mutation	SNP	ENST00000276570.5	37	c.244A>C	CCDS6183.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.358721	0.24598	.	.	ENSG00000147570	ENST00000276570;ENST00000522619	T;T	0.72051	-0.62;-0.62	5.73	5.73	0.89815	Heat shock protein DnaJ, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.45895	0.1365	N	0.03224	-0.385	0.39596	D	0.969661	B	0.11235	0.004	B	0.13407	0.009	T	0.47535	-0.9110	10	0.13470	T	0.59	.	12.5255	0.56083	0.861:0.139:0.0:0.0	.	82	Q9UF47	DNJ5B_HUMAN	Q	82	ENSP00000276570:K82Q;ENSP00000430196:K82Q	ENSP00000276570:K82Q	K	+	1	0	DNAJC5B	67151573	0.999000	0.42202	1.000000	0.80357	0.928000	0.56348	1.358000	0.34102	2.180000	0.69256	0.533000	0.62120	AAG		0.463	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378915.1	NM_033105		72	112	0	0	0	0	72	112				
MCMDC2	157777	broad.mit.edu	37	8	67796029	67796029	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:67796029C>T	ENST00000422365.2	+	9	1044	c.873C>T	c.(871-873)ctC>ctT	p.L291L	MCMDC2_ENST00000313616.5_Silent_p.L291L|MCMDC2_ENST00000492775.1_Silent_p.L291L|MCMDC2_ENST00000541540.1_Silent_p.L228L|MCMDC2_ENST00000396592.3_Silent_p.L291L	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	291					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						GGTGTCTCCTCTCCTTAACTT	0.358																																						uc003xwz.3		NA																	0				ovary(1)	1						c.(871-873)CTC>CTT		minichromosome maintenance complex							50.0	49.0	49.0					8																	67796029		2202	4299	6501	SO:0001819	synonymous_variant	157777				DNA replication		ATP binding|DNA binding	g.chr8:67796029C>T	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.873C>T	8.37:g.67796029C>T						C8orf45_uc003xwv.2_Silent_p.L291L|C8orf45_uc011lev.1_Silent_p.L291L|C8orf45_uc011lew.1_Silent_p.L222L|C8orf45_uc011lex.1_Silent_p.L49L|C8orf45_uc003xwy.3_Silent_p.L291L	p.L291L	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)		9	1044	+	Breast(64;0.186)		291					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Silent	SNP	ENST00000422365.2	37	c.873C>T	CCDS6197.2																																																																																				0.358	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		47	49	0	0	0	0	47	49				
DCAF4L2	138009	broad.mit.edu	37	8	88885612	88885612	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:88885612C>T	ENST00000319675.3	-	1	684	c.588G>A	c.(586-588)gcG>gcA	p.A196A		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	196										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAGAGTGATACGCGTGGATGC	0.557																																						uc003ydz.2		NA																	0				ovary(1)	1						c.(586-588)GCG>GCA		WD repeat domain 21C							168.0	149.0	155.0					8																	88885612		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88885612C>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.588G>A	8.37:g.88885612C>T							p.A196A	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	685	-			196						Silent	SNP	ENST00000319675.3	37	c.588G>A	CCDS6245.1																																																																																				0.557	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		51	167	0	0	0	0	51	167				
KIAA1429	25962	broad.mit.edu	37	8	95547138	95547138	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:95547138G>A	ENST00000297591.5	-	5	488	c.413C>T	c.(412-414)tCt>tTt	p.S138F	KIAA1429_ENST00000437199.1_Missense_Mutation_p.S138F|RP11-267M23.3_ENST00000521010.1_RNA|KIAA1429_ENST00000421249.2_Missense_Mutation_p.S138F	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	138					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			tggtggtggAGAGTCTCTGTC	0.458																																						uc003ygo.1		NA																	0				ovary(1)|skin(1)	2						c.(412-414)TCT>TTT		hypothetical protein LOC25962 isoform 1							115.0	101.0	106.0					8																	95547138		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95547138G>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.413C>T	8.37:g.95547138G>A	ENSP00000297591:p.Ser138Phe					KIAA1429_uc003ygp.2_Missense_Mutation_p.S138F	p.S138F	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		5	426	-	Breast(36;3.29e-05)		138					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.413C>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013696	0.93404	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.52754	0.66;0.66;0.65	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.64670	0.2619	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.80764	0.994;0.994	T	0.65985	-0.6035	10	0.72032	D	0.01	-14.2648	19.4293	0.94758	0.0:0.0:1.0:0.0	.	138;138	Q69YN4-4;Q69YN4	.;VIR_HUMAN	F	138	ENSP00000297591:S138F;ENSP00000395600:S138F;ENSP00000398390:S138F	ENSP00000297591:S138F	S	-	2	0	KIAA1429	95616314	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.420000	0.97426	2.654000	0.90174	0.591000	0.81541	TCT		0.458	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		22	70	0	0	0	0	22	70				
VPS13B	157680	broad.mit.edu	37	8	100115242	100115242	+	Silent	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:100115242C>G	ENST00000358544.2	+	5	585	c.474C>G	c.(472-474)ctC>ctG	p.L158L	VPS13B_ENST00000395996.1_Silent_p.L158L|VPS13B_ENST00000355155.1_Silent_p.L158L|VPS13B_ENST00000357162.2_Silent_p.L158L|VPS13B_ENST00000441350.2_Silent_p.L158L	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	158					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TAAATAATCTCATACTAAAAT	0.308																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(472-474)CTC>CTG		vacuolar protein sorting 13B isoform 5							106.0	104.0	105.0					8																	100115242		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100115242C>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.474C>G	8.37:g.100115242C>G						VPS13B_uc003yiw.2_Silent_p.L158L|VPS13B_uc003yit.2_Silent_p.L158L|VPS13B_uc003yiu.1_Silent_p.L158L|VPS13B_uc003yis.2_Silent_p.L158L|VPS13B_uc011lgy.1_Silent_p.L34L	p.L158L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		5	585	+	Breast(36;3.73e-07)		158					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.474C>G	CCDS6280.1																																																																																				0.308	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		30	135	0	0	0	0	30	135				
RGS22	26166	broad.mit.edu	37	8	101020653	101020653	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:101020653G>A	ENST00000360863.6	-	15	2505	c.2311C>T	c.(2311-2313)Ctt>Ttt	p.L771F	RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Missense_Mutation_p.L759F|RGS22_ENST00000523287.1_Missense_Mutation_p.L590F	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	771	Poly-Leu.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CATGGCTCAAGAAGGAGGAGA	0.378																																						uc003yjb.1		NA																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(2311-2313)CTT>TTT		regulator of G-protein signaling 22							155.0	146.0	149.0					8																	101020653		1863	4097	5960	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101020653G>A	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.2311C>T	8.37:g.101020653G>A	ENSP00000354109:p.Leu771Phe					RGS22_uc003yja.1_Missense_Mutation_p.L590F|RGS22_uc003yjc.1_Missense_Mutation_p.L759F|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	p.L771F	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		15	2506	-			771			Poly-Leu.		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.2311C>T	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.794987	0.70452	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437;ENST00000517828	T;T;T;T	0.31247	4.55;4.55;4.55;1.5	5.9	5.03	0.67393	Regulator of G protein signalling (1);Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000002	T	0.50394	0.1613	L	0.59436	1.845	0.37428	D	0.913903	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.59193	-0.7500	10	0.72032	D	0.01	.	12.0087	0.53274	0.1376:0.0:0.8624:0.0	.	759;771;590	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	F	771;759;590;759;86	ENSP00000354109:L771F;ENSP00000429382:L590F;ENSP00000428212:L759F;ENSP00000427754:L86F	ENSP00000354109:L771F	L	-	1	0	RGS22	101089829	0.999000	0.42202	0.957000	0.39632	0.958000	0.62258	3.026000	0.49689	1.504000	0.48704	0.650000	0.86243	CTT		0.378	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		35	168	0	0	0	0	35	168				
PLEC	5339	broad.mit.edu	37	8	144990620	144990620	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144990620C>T	ENST00000322810.4	-	32	13949	c.13780G>A	c.(13780-13782)Gag>Aag	p.E4594K	PLEC_ENST00000345136.3_Missense_Mutation_p.E4457K|PLEC_ENST00000354958.2_Missense_Mutation_p.E4435K|PLEC_ENST00000436759.2_Missense_Mutation_p.E4484K|PLEC_ENST00000357649.2_Missense_Mutation_p.E4461K|PLEC_ENST00000354589.3_Missense_Mutation_p.E4457K|PLEC_ENST00000398774.2_Missense_Mutation_p.E4425K|PLEC_ENST00000356346.3_Missense_Mutation_p.E4443K|PLEC_ENST00000527096.1_Missense_Mutation_p.E4480K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4594	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCGTGCCCTCCTCCACCATG	0.657																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(13780-13782)GAG>AAG		plectin isoform 1							68.0	74.0	72.0					8																	144990620		2040	4185	6225	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144990620C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13780G>A	8.37:g.144990620C>T	ENSP00000323856:p.Glu4594Lys					PLEC_uc003zab.1_Missense_Mutation_p.E4457K|PLEC_uc003zac.1_Missense_Mutation_p.E4461K|PLEC_uc003zad.2_Missense_Mutation_p.E4457K|PLEC_uc003zae.1_Missense_Mutation_p.E4425K|PLEC_uc003zag.1_Missense_Mutation_p.E4435K|PLEC_uc003zah.2_Missense_Mutation_p.E4443K|PLEC_uc003zaj.2_Missense_Mutation_p.E4484K	p.E4594K	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	13950	-			4594			Globular 2.|Plectin 33.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.13780G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293850	0.40594	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.05	5.05	0.67936	.	0.080039	0.47093	U	0.000243	T	0.68284	0.2984	L	0.54323	1.7	0.53688	D	0.999972	P;P;P;P;P;P;P;P	0.46142	0.873;0.873;0.873;0.799;0.873;0.873;0.873;0.873	P;B;B;B;B;B;B;B	0.44811	0.461;0.385;0.385;0.214;0.385;0.385;0.385;0.385	T	0.73411	-0.3991	10	0.72032	D	0.01	.	18.2089	0.89864	0.0:1.0:0.0:0.0	.	4484;4443;4435;4594;4425;4457;4461;4457	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	4457;4461;4457;4425;4594;4435;4443;4484;4480	ENSP00000344848:E4457K;ENSP00000350277:E4461K;ENSP00000346602:E4457K;ENSP00000381756:E4425K;ENSP00000323856:E4594K;ENSP00000347044:E4435K;ENSP00000348702:E4443K;ENSP00000388180:E4484K;ENSP00000434583:E4480K	ENSP00000323856:E4594K	E	-	1	0	PLEC	145062608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.689000	0.68234	2.606000	0.88127	0.643000	0.83706	GAG		0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		49	193	0	0	0	0	49	193				
PLEC	5339	broad.mit.edu	37	8	144993305	144993305	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144993305C>T	ENST00000322810.4	-	32	11264	c.11095G>A	c.(11095-11097)Gag>Aag	p.E3699K	PLEC_ENST00000345136.3_Missense_Mutation_p.E3562K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3540K|PLEC_ENST00000436759.2_Missense_Mutation_p.E3589K|PLEC_ENST00000357649.2_Missense_Mutation_p.E3566K|PLEC_ENST00000354589.3_Missense_Mutation_p.E3562K|PLEC_ENST00000398774.2_Missense_Mutation_p.E3530K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3548K|PLEC_ENST00000527096.1_Missense_Mutation_p.E3585K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3699	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTTCTTGTCTCCTCCTCAGTG	0.637																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(11095-11097)GAG>AAG		plectin isoform 1							105.0	122.0	116.0					8																	144993305		2120	4227	6347	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144993305C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11095G>A	8.37:g.144993305C>T	ENSP00000323856:p.Glu3699Lys					PLEC_uc003zab.1_Missense_Mutation_p.E3562K|PLEC_uc003zac.1_Missense_Mutation_p.E3566K|PLEC_uc003zad.2_Missense_Mutation_p.E3562K|PLEC_uc003zae.1_Missense_Mutation_p.E3530K|PLEC_uc003zag.1_Missense_Mutation_p.E3540K|PLEC_uc003zah.2_Missense_Mutation_p.E3548K|PLEC_uc003zaj.2_Missense_Mutation_p.E3589K	p.E3699K	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	11265	-			3699			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.11095G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	9.398	1.077362	0.20227	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.79247	-1.21;-1.22;-1.25;-1.24;-1.23;-1.21;-1.21;-1.21;-1.21	4.57	3.69	0.42338	.	0.311327	0.25341	U	0.031365	T	0.66046	0.2750	L	0.33189	0.99	0.38405	D	0.945765	P;P;P;P;P;P;P;P	0.42296	0.775;0.775;0.775;0.666;0.775;0.775;0.775;0.775	B;B;B;B;B;B;B;B	0.36464	0.225;0.225;0.225;0.112;0.225;0.225;0.225;0.225	T	0.71155	-0.4675	10	0.62326	D	0.03	.	12.2277	0.54470	0.0:0.9158:0.0:0.0842	.	3589;3548;3540;3699;3530;3562;3566;3562	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	3562;3566;3562;3530;3699;3540;3548;3589;3585	ENSP00000344848:E3562K;ENSP00000350277:E3566K;ENSP00000346602:E3562K;ENSP00000381756:E3530K;ENSP00000323856:E3699K;ENSP00000347044:E3540K;ENSP00000348702:E3548K;ENSP00000388180:E3589K;ENSP00000434583:E3585K	ENSP00000323856:E3699K	E	-	1	0	PLEC	145065293	1.000000	0.71417	1.000000	0.80357	0.488000	0.33401	3.419000	0.52728	1.137000	0.42214	0.448000	0.29417	GAG		0.637	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		50	235	0	0	0	0	50	235				
PLEC	5339	broad.mit.edu	37	8	144993498	144993498	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144993498C>T	ENST00000322810.4	-	32	11071	c.10902G>A	c.(10900-10902)gaG>gaA	p.E3634E	PLEC_ENST00000345136.3_Silent_p.E3497E|PLEC_ENST00000354958.2_Silent_p.E3475E|PLEC_ENST00000436759.2_Silent_p.E3524E|PLEC_ENST00000357649.2_Silent_p.E3501E|PLEC_ENST00000354589.3_Silent_p.E3497E|PLEC_ENST00000398774.2_Silent_p.E3465E|PLEC_ENST00000356346.3_Silent_p.E3483E|PLEC_ENST00000527096.1_Silent_p.E3520E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3634	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCGGTTCATCTCCTCACTGA	0.657																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(10900-10902)GAG>GAA		plectin isoform 1							65.0	72.0	70.0					8																	144993498		2075	4190	6265	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144993498C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10902G>A	8.37:g.144993498C>T						PLEC_uc003zab.1_Silent_p.E3497E|PLEC_uc003zac.1_Silent_p.E3501E|PLEC_uc003zad.2_Silent_p.E3497E|PLEC_uc003zae.1_Silent_p.E3465E|PLEC_uc003zag.1_Silent_p.E3475E|PLEC_uc003zah.2_Silent_p.E3483E|PLEC_uc003zaj.2_Silent_p.E3524E	p.E3634E	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	11072	-			3634			Globular 2.|Plectin 15.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.10902G>A	CCDS43772.1																																																																																				0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		37	144	0	0	0	0	37	144				
PLEC	5339	broad.mit.edu	37	8	144993503	144993503	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144993503C>T	ENST00000322810.4	-	32	11066	c.10897G>A	c.(10897-10899)Gag>Aag	p.E3633K	PLEC_ENST00000345136.3_Missense_Mutation_p.E3496K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3474K|PLEC_ENST00000436759.2_Missense_Mutation_p.E3523K|PLEC_ENST00000357649.2_Missense_Mutation_p.E3500K|PLEC_ENST00000354589.3_Missense_Mutation_p.E3496K|PLEC_ENST00000398774.2_Missense_Mutation_p.E3464K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3482K|PLEC_ENST00000527096.1_Missense_Mutation_p.E3519K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3633	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTCATCTCCTCACTGAAGTAG	0.662																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(10897-10899)GAG>AAG		plectin isoform 1							63.0	70.0	68.0					8																	144993503		2063	4190	6253	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144993503C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10897G>A	8.37:g.144993503C>T	ENSP00000323856:p.Glu3633Lys					PLEC_uc003zab.1_Missense_Mutation_p.E3496K|PLEC_uc003zac.1_Missense_Mutation_p.E3500K|PLEC_uc003zad.2_Missense_Mutation_p.E3496K|PLEC_uc003zae.1_Missense_Mutation_p.E3464K|PLEC_uc003zag.1_Missense_Mutation_p.E3474K|PLEC_uc003zah.2_Missense_Mutation_p.E3482K|PLEC_uc003zaj.2_Missense_Mutation_p.E3523K	p.E3633K	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	11067	-			3633			Globular 2.|Plectin 15.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.10897G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	5.287	0.238389	0.10023	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8;-0.8	5.03	1.27	0.21489	.	0.347372	0.25219	N	0.032242	T	0.62208	0.2409	L	0.47016	1.485	0.33949	D	0.64418	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001	T	0.57894	-0.7732	10	0.38643	T	0.18	.	6.7829	0.23657	0.0:0.6564:0.1276:0.2159	.	3523;3482;3474;3633;3464;3496;3500;3496	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	3496;3500;3496;3464;3633;3474;3482;3523;3519	ENSP00000344848:E3496K;ENSP00000350277:E3500K;ENSP00000346602:E3496K;ENSP00000381756:E3464K;ENSP00000323856:E3633K;ENSP00000347044:E3474K;ENSP00000348702:E3482K;ENSP00000388180:E3523K;ENSP00000434583:E3519K	ENSP00000323856:E3633K	E	-	1	0	PLEC	145065491	0.007000	0.16637	0.599000	0.28851	0.063000	0.16089	0.111000	0.15458	0.052000	0.16007	-0.506000	0.04501	GAG		0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		31	138	0	0	0	0	31	138				
PLEC	5339	broad.mit.edu	37	8	144993992	144993992	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144993992C>T	ENST00000322810.4	-	32	10577	c.10408G>A	c.(10408-10410)Gac>Aac	p.D3470N	PLEC_ENST00000345136.3_Missense_Mutation_p.D3333N|PLEC_ENST00000354958.2_Missense_Mutation_p.D3311N|PLEC_ENST00000436759.2_Missense_Mutation_p.D3360N|PLEC_ENST00000357649.2_Missense_Mutation_p.D3337N|PLEC_ENST00000354589.3_Missense_Mutation_p.D3333N|PLEC_ENST00000398774.2_Missense_Mutation_p.D3301N|PLEC_ENST00000356346.3_Missense_Mutation_p.D3319N|PLEC_ENST00000527096.1_Missense_Mutation_p.D3356N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3470	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCTTGCCGTCCTTGAGCTGC	0.667																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(10408-10410)GAC>AAC		plectin isoform 1							31.0	35.0	34.0					8																	144993992		2053	4200	6253	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144993992C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10408G>A	8.37:g.144993992C>T	ENSP00000323856:p.Asp3470Asn					PLEC_uc003zab.1_Missense_Mutation_p.D3333N|PLEC_uc003zac.1_Missense_Mutation_p.D3337N|PLEC_uc003zad.2_Missense_Mutation_p.D3333N|PLEC_uc003zae.1_Missense_Mutation_p.D3301N|PLEC_uc003zag.1_Missense_Mutation_p.D3311N|PLEC_uc003zah.2_Missense_Mutation_p.D3319N|PLEC_uc003zaj.2_Missense_Mutation_p.D3360N	p.D3470N	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	10578	-			3470			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.10408G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908948	0.33721	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.11	5.11	0.69529	.	0.394675	0.23002	U	0.053078	T	0.50922	0.1644	N	0.14661	0.345	0.35188	D	0.773149	B;B;B;B;B;B;B;B	0.29301	0.241;0.152;0.152;0.156;0.152;0.152;0.241;0.241	B;B;B;B;B;B;B;B	0.27500	0.08;0.08;0.08;0.037;0.08;0.08;0.08;0.08	T	0.56768	-0.7924	10	0.22109	T	0.4	.	18.1535	0.89684	0.0:1.0:0.0:0.0	.	3360;3319;3311;3470;3301;3333;3337;3333	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	N	3333;3337;3333;3301;3470;3311;3319;3360;3356	ENSP00000344848:D3333N;ENSP00000350277:D3337N;ENSP00000346602:D3333N;ENSP00000381756:D3301N;ENSP00000323856:D3470N;ENSP00000347044:D3311N;ENSP00000348702:D3319N;ENSP00000388180:D3360N;ENSP00000434583:D3356N	ENSP00000323856:D3470N	D	-	1	0	PLEC	145065980	1.000000	0.71417	0.581000	0.28614	0.882000	0.50991	3.027000	0.49697	2.367000	0.80283	0.448000	0.29417	GAC		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		31	103	0	0	0	0	31	103				
PLEC	5339	broad.mit.edu	37	8	144994286	144994286	+	Missense_Mutation	SNP	C	C	G	rs373873935		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144994286C>G	ENST00000322810.4	-	32	10283	c.10114G>C	c.(10114-10116)Gaa>Caa	p.E3372Q	PLEC_ENST00000345136.3_Missense_Mutation_p.E3235Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E3213Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E3262Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E3239Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E3235Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E3203Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E3221Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E3258Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3372	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGGTCTTTTCAAAGGTCTCA	0.642																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(10114-10116)GAA>CAA		plectin isoform 1							33.0	36.0	35.0					8																	144994286		1917	4114	6031	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144994286C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10114G>C	8.37:g.144994286C>G	ENSP00000323856:p.Glu3372Gln					PLEC_uc003zab.1_Missense_Mutation_p.E3235Q|PLEC_uc003zac.1_Missense_Mutation_p.E3239Q|PLEC_uc003zad.2_Missense_Mutation_p.E3235Q|PLEC_uc003zae.1_Missense_Mutation_p.E3203Q|PLEC_uc003zag.1_Missense_Mutation_p.E3213Q|PLEC_uc003zah.2_Missense_Mutation_p.E3221Q|PLEC_uc003zaj.2_Missense_Mutation_p.E3262Q	p.E3372Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	10284	-			3372			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.10114G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	1.179	-0.638735	0.03557	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.75938	-0.95;-0.95;-0.98;-0.98;-0.97;-0.95;-0.95;-0.95;-0.95	3.81	1.94	0.25998	.	0.487165	0.18879	N	0.128607	T	0.62380	0.2423	L	0.37850	1.14	0.23528	N	0.99748	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.0;0.001;0.001;0.001;0.001	T	0.45818	-0.9235	10	0.22109	T	0.4	.	12.9602	0.58453	0.0:0.6069:0.3931:0.0	.	3262;3221;3213;3372;3203;3235;3239;3235	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	3235;3239;3235;3203;3372;3213;3221;3262;3258	ENSP00000344848:E3235Q;ENSP00000350277:E3239Q;ENSP00000346602:E3235Q;ENSP00000381756:E3203Q;ENSP00000323856:E3372Q;ENSP00000347044:E3213Q;ENSP00000348702:E3221Q;ENSP00000388180:E3262Q;ENSP00000434583:E3258Q	ENSP00000323856:E3372Q	E	-	1	0	PLEC	145066274	0.215000	0.23574	0.324000	0.25361	0.157000	0.22087	0.731000	0.26058	0.343000	0.23821	0.393000	0.25936	GAA		0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		24	102	0	0	0	0	24	102				
PLEC	5339	broad.mit.edu	37	8	144994712	144994712	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144994712C>T	ENST00000322810.4	-	32	9857	c.9688G>A	c.(9688-9690)Gag>Aag	p.E3230K	PLEC_ENST00000345136.3_Missense_Mutation_p.E3093K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3071K|PLEC_ENST00000436759.2_Missense_Mutation_p.E3120K|PLEC_ENST00000357649.2_Missense_Mutation_p.E3097K|PLEC_ENST00000354589.3_Missense_Mutation_p.E3093K|PLEC_ENST00000398774.2_Missense_Mutation_p.E3061K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3079K|PLEC_ENST00000527096.1_Missense_Mutation_p.E3116K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3230	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCAGCTTCTCATGAAACTCG	0.662																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(9688-9690)GAG>AAG		plectin isoform 1							24.0	27.0	26.0					8																	144994712		2003	4185	6188	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144994712C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9688G>A	8.37:g.144994712C>T	ENSP00000323856:p.Glu3230Lys					PLEC_uc003zab.1_Missense_Mutation_p.E3093K|PLEC_uc003zac.1_Missense_Mutation_p.E3097K|PLEC_uc003zad.2_Missense_Mutation_p.E3093K|PLEC_uc003zae.1_Missense_Mutation_p.E3061K|PLEC_uc003zag.1_Missense_Mutation_p.E3071K|PLEC_uc003zah.2_Missense_Mutation_p.E3079K|PLEC_uc003zaj.2_Missense_Mutation_p.E3120K	p.E3230K	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	9858	-			3230			Plectin 9.|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.9688G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570805	0.28003	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	3.54	3.54	0.40534	.	0.000000	0.64402	U	0.000011	T	0.82148	0.4974	M	0.75447	2.3	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.69078	0.996;0.996;0.996;0.997;0.996;0.996;0.996;0.996	D;D;D;D;D;D;D;D	0.80764	0.99;0.99;0.99;0.994;0.99;0.99;0.99;0.99	T	0.83190	-0.0084	10	0.44086	T	0.13	.	14.3972	0.67020	0.0:1.0:0.0:0.0	.	3120;3079;3071;3230;3061;3093;3097;3093	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	3093;3097;3093;3061;3230;3071;3079;3120;3116	ENSP00000344848:E3093K;ENSP00000350277:E3097K;ENSP00000346602:E3093K;ENSP00000381756:E3061K;ENSP00000323856:E3230K;ENSP00000347044:E3071K;ENSP00000348702:E3079K;ENSP00000388180:E3120K;ENSP00000434583:E3116K	ENSP00000323856:E3230K	E	-	1	0	PLEC	145066700	1.000000	0.71417	0.980000	0.43619	0.290000	0.27261	4.692000	0.61746	1.964000	0.57103	0.448000	0.29417	GAG		0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		15	57	0	0	0	0	15	57				
PLEC	5339	broad.mit.edu	37	8	144995096	144995096	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144995096C>T	ENST00000322810.4	-	32	9473	c.9304G>A	c.(9304-9306)Gag>Aag	p.E3102K	PLEC_ENST00000345136.3_Missense_Mutation_p.E2965K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2943K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2992K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2969K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2965K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2933K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2951K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2988K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3102	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCTCCTGCTCCTCCACCACC	0.637																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(9304-9306)GAG>AAG		plectin isoform 1							25.0	28.0	27.0					8																	144995096		2082	4199	6281	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144995096C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9304G>A	8.37:g.144995096C>T	ENSP00000323856:p.Glu3102Lys					PLEC_uc003zab.1_Missense_Mutation_p.E2965K|PLEC_uc003zac.1_Missense_Mutation_p.E2969K|PLEC_uc003zad.2_Missense_Mutation_p.E2965K|PLEC_uc003zae.1_Missense_Mutation_p.E2933K|PLEC_uc003zag.1_Missense_Mutation_p.E2943K|PLEC_uc003zah.2_Missense_Mutation_p.E2951K|PLEC_uc003zaj.2_Missense_Mutation_p.E2992K	p.E3102K	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	9474	-			3102			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.9304G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489509	0.44249	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.79141	-1.21;-1.21;-1.24;-1.24;-1.22;-1.2;-1.2;-1.2;-1.2	4.82	4.82	0.62117	.	0.165679	0.37437	U	0.002086	T	0.76343	0.3974	M	0.64567	1.98	0.54753	D	0.99998	P;P;P;P;P;P;P;P	0.48294	0.908;0.908;0.908;0.851;0.908;0.908;0.908;0.908	B;B;B;B;B;B;B;B	0.40677	0.337;0.337;0.337;0.182;0.337;0.337;0.337;0.337	T	0.81326	-0.0983	10	0.66056	D	0.02	.	17.0298	0.86458	0.0:1.0:0.0:0.0	.	2992;2951;2943;3102;2933;2965;2969;2965	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	2965;2969;2965;2933;3102;2943;2951;2992;2988	ENSP00000344848:E2965K;ENSP00000350277:E2969K;ENSP00000346602:E2965K;ENSP00000381756:E2933K;ENSP00000323856:E3102K;ENSP00000347044:E2943K;ENSP00000348702:E2951K;ENSP00000388180:E2992K;ENSP00000434583:E2988K	ENSP00000323856:E3102K	E	-	1	0	PLEC	145067084	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	5.929000	0.70096	2.404000	0.81709	0.448000	0.29417	GAG		0.637	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		18	49	0	0	0	0	18	49				
PLEC	5339	broad.mit.edu	37	8	144995838	144995838	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144995838C>T	ENST00000322810.4	-	32	8731	c.8562G>A	c.(8560-8562)caG>caA	p.Q2854Q	PLEC_ENST00000345136.3_Silent_p.Q2717Q|PLEC_ENST00000354958.2_Silent_p.Q2695Q|PLEC_ENST00000436759.2_Silent_p.Q2744Q|PLEC_ENST00000357649.2_Silent_p.Q2721Q|PLEC_ENST00000354589.3_Silent_p.Q2717Q|PLEC_ENST00000398774.2_Silent_p.Q2685Q|PLEC_ENST00000356346.3_Silent_p.Q2703Q|PLEC_ENST00000527096.1_Silent_p.Q2740Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2854	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCAGCTGCCTCTGCAGGGCGG	0.672																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(8560-8562)CAG>CAA		plectin isoform 1							34.0	38.0	37.0					8																	144995838		2129	4235	6364	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144995838C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8562G>A	8.37:g.144995838C>T						PLEC_uc003zab.1_Silent_p.Q2717Q|PLEC_uc003zac.1_Silent_p.Q2721Q|PLEC_uc003zad.2_Silent_p.Q2717Q|PLEC_uc003zae.1_Silent_p.Q2685Q|PLEC_uc003zag.1_Silent_p.Q2695Q|PLEC_uc003zah.2_Silent_p.Q2703Q|PLEC_uc003zaj.2_Silent_p.Q2744Q	p.Q2854Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	8732	-			2854			Plectin 1.|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.8562G>A	CCDS43772.1																																																																																				0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		21	42	0	0	0	0	21	42				
PLEC	5339	broad.mit.edu	37	8	144997355	144997355	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997355C>T	ENST00000322810.4	-	31	7322	c.7153G>A	c.(7153-7155)Gag>Aag	p.E2385K	PLEC_ENST00000345136.3_Missense_Mutation_p.E2248K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2226K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2275K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2252K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2248K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2216K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2234K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2271K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2385	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.E2385Q(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTCTCAGCCTCGATGCGTGCC	0.647																																						uc003zaf.1		NA																	1	Substitution - Missense(1)		skin(1)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(7153-7155)GAG>AAG		plectin isoform 1							26.0	27.0	27.0					8																	144997355		2194	4295	6489	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144997355C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7153G>A	8.37:g.144997355C>T	ENSP00000323856:p.Glu2385Lys					PLEC_uc003zab.1_Missense_Mutation_p.E2248K|PLEC_uc003zac.1_Missense_Mutation_p.E2252K|PLEC_uc003zad.2_Missense_Mutation_p.E2248K|PLEC_uc003zae.1_Missense_Mutation_p.E2216K|PLEC_uc003zag.1_Missense_Mutation_p.E2226K|PLEC_uc003zah.2_Missense_Mutation_p.E2234K|PLEC_uc003zaj.2_Missense_Mutation_p.E2275K	p.E2385K	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	7323	-			2385			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.7153G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199675	0.38905	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.85702	-1.92;-1.92;-1.95;-1.95;-1.93;-1.91;-2.02;-1.92;-1.92	5.2	5.2	0.72013	.	0.000000	0.64402	U	0.000006	D	0.91479	0.7310	M	0.74258	2.255	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.85130	0.997;0.997;0.997;0.994;0.997;0.997;0.997;0.997	D	0.88767	0.3261	10	0.17369	T	0.5	.	18.3397	0.90300	0.0:1.0:0.0:0.0	.	2275;2234;2226;2385;2216;2248;2252;2248	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	2248;2252;2248;2216;2385;2226;2234;2275;2271	ENSP00000344848:E2248K;ENSP00000350277:E2252K;ENSP00000346602:E2248K;ENSP00000381756:E2216K;ENSP00000323856:E2385K;ENSP00000347044:E2226K;ENSP00000348702:E2234K;ENSP00000388180:E2275K;ENSP00000434583:E2271K	ENSP00000323856:E2385K	E	-	1	0	PLEC	145069343	1.000000	0.71417	0.994000	0.49952	0.452000	0.32318	4.765000	0.62271	2.429000	0.82318	0.549000	0.68633	GAG		0.647	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		10	48	0	0	0	0	10	48				
PLEC	5339	broad.mit.edu	37	8	144997461	144997461	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997461C>T	ENST00000322810.4	-	31	7216	c.7047G>A	c.(7045-7047)ctG>ctA	p.L2349L	PLEC_ENST00000345136.3_Silent_p.L2212L|PLEC_ENST00000354958.2_Silent_p.L2190L|PLEC_ENST00000436759.2_Silent_p.L2239L|PLEC_ENST00000357649.2_Silent_p.L2216L|PLEC_ENST00000354589.3_Silent_p.L2212L|PLEC_ENST00000398774.2_Silent_p.L2180L|PLEC_ENST00000356346.3_Silent_p.L2198L|PLEC_ENST00000527096.1_Silent_p.L2235L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2349	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCCGCCTTCAGCCGCTGCA	0.667																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(7045-7047)CTG>CTA		plectin isoform 1							13.0	14.0	14.0					8																	144997461		2087	4204	6291	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144997461C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7047G>A	8.37:g.144997461C>T						PLEC_uc003zab.1_Silent_p.L2212L|PLEC_uc003zac.1_Silent_p.L2216L|PLEC_uc003zad.2_Silent_p.L2212L|PLEC_uc003zae.1_Silent_p.L2180L|PLEC_uc003zag.1_Silent_p.L2190L|PLEC_uc003zah.2_Silent_p.L2198L|PLEC_uc003zaj.2_Silent_p.L2239L	p.L2349L	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	7217	-			2349			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.7047G>A	CCDS43772.1																																																																																				0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		8	17	0	0	0	0	8	17				
PLEC	5339	broad.mit.edu	37	8	144997511	144997511	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997511C>T	ENST00000322810.4	-	31	7166	c.6997G>A	c.(6997-6999)Gag>Aag	p.E2333K	PLEC_ENST00000345136.3_Missense_Mutation_p.E2196K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2174K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2223K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2200K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2196K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2164K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2182K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2219K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2333	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGGTCTCCTCCAGCTGCAGC	0.652																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(6997-6999)GAG>AAG		plectin isoform 1							11.0	13.0	12.0					8																	144997511		2121	4238	6359	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144997511C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6997G>A	8.37:g.144997511C>T	ENSP00000323856:p.Glu2333Lys					PLEC_uc003zab.1_Missense_Mutation_p.E2196K|PLEC_uc003zac.1_Missense_Mutation_p.E2200K|PLEC_uc003zad.2_Missense_Mutation_p.E2196K|PLEC_uc003zae.1_Missense_Mutation_p.E2164K|PLEC_uc003zag.1_Missense_Mutation_p.E2174K|PLEC_uc003zah.2_Missense_Mutation_p.E2182K|PLEC_uc003zaj.2_Missense_Mutation_p.E2223K	p.E2333K	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	7167	-			2333			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.6997G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523920	0.44866	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.78707	-1.16;-1.16;-1.2;-1.2;-1.16;-1.16;-1.12;-1.13;-1.16	5.11	5.11	0.69529	.	0.186108	0.34002	U	0.004358	T	0.75715	0.3887	L	0.58101	1.795	0.44619	D	0.997592	B;B;B;B;B;B;B;B	0.33940	0.433;0.208;0.208;0.132;0.208;0.208;0.208;0.208	B;B;B;B;B;B;B;B	0.31686	0.134;0.134;0.134;0.063;0.134;0.134;0.134;0.134	T	0.78357	-0.2235	10	0.72032	D	0.01	.	18.1196	0.89567	0.0:1.0:0.0:0.0	.	2223;2182;2174;2333;2164;2196;2200;2196	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	2196;2200;2196;2164;2333;2174;2182;2223;2219	ENSP00000344848:E2196K;ENSP00000350277:E2200K;ENSP00000346602:E2196K;ENSP00000381756:E2164K;ENSP00000323856:E2333K;ENSP00000347044:E2174K;ENSP00000348702:E2182K;ENSP00000388180:E2223K;ENSP00000434583:E2219K	ENSP00000323856:E2333K	E	-	1	0	PLEC	145069499	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.876000	0.69667	2.372000	0.80975	0.549000	0.68633	GAG		0.652	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		7	22	0	0	0	0	7	22				
PLEC	5339	broad.mit.edu	37	8	144997545	144997545	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997545C>T	ENST00000322810.4	-	31	7132	c.6963G>A	c.(6961-6963)gtG>gtA	p.V2321V	PLEC_ENST00000345136.3_Silent_p.V2184V|PLEC_ENST00000354958.2_Silent_p.V2162V|PLEC_ENST00000436759.2_Silent_p.V2211V|PLEC_ENST00000357649.2_Silent_p.V2188V|PLEC_ENST00000354589.3_Silent_p.V2184V|PLEC_ENST00000398774.2_Silent_p.V2152V|PLEC_ENST00000356346.3_Silent_p.V2170V|PLEC_ENST00000527096.1_Silent_p.V2207V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2321	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCCTGCTCCACCTGCGCCT	0.657																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(6961-6963)GTG>GTA		plectin isoform 1							10.0	12.0	12.0					8																	144997545		2134	4237	6371	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144997545C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6963G>A	8.37:g.144997545C>T						PLEC_uc003zab.1_Silent_p.V2184V|PLEC_uc003zac.1_Silent_p.V2188V|PLEC_uc003zad.2_Silent_p.V2184V|PLEC_uc003zae.1_Silent_p.V2152V|PLEC_uc003zag.1_Silent_p.V2162V|PLEC_uc003zah.2_Silent_p.V2170V|PLEC_uc003zaj.2_Silent_p.V2211V	p.V2321V	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	7133	-			2321			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.6963G>A	CCDS43772.1																																																																																				0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		5	27	0	0	0	0	5	27				
PLEC	5339	broad.mit.edu	37	8	144997569	144997569	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997569C>T	ENST00000322810.4	-	31	7108	c.6939G>A	c.(6937-6939)caG>caA	p.Q2313Q	PLEC_ENST00000345136.3_Silent_p.Q2176Q|PLEC_ENST00000354958.2_Silent_p.Q2154Q|PLEC_ENST00000436759.2_Silent_p.Q2203Q|PLEC_ENST00000357649.2_Silent_p.Q2180Q|PLEC_ENST00000354589.3_Silent_p.Q2176Q|PLEC_ENST00000398774.2_Silent_p.Q2144Q|PLEC_ENST00000356346.3_Silent_p.Q2162Q|PLEC_ENST00000527096.1_Silent_p.Q2199Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2313	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCGCAGCGTCTGCTCGGCGA	0.662																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(6937-6939)CAG>CAA		plectin isoform 1							11.0	14.0	13.0					8																	144997569		2131	4240	6371	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144997569C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6939G>A	8.37:g.144997569C>T						PLEC_uc003zab.1_Silent_p.Q2176Q|PLEC_uc003zac.1_Silent_p.Q2180Q|PLEC_uc003zad.2_Silent_p.Q2176Q|PLEC_uc003zae.1_Silent_p.Q2144Q|PLEC_uc003zag.1_Silent_p.Q2154Q|PLEC_uc003zah.2_Silent_p.Q2162Q|PLEC_uc003zaj.2_Silent_p.Q2203Q	p.Q2313Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	7109	-			2313			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.6939G>A	CCDS43772.1																																																																																				0.662	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		5	35	0	0	0	0	5	35				
PLEC	5339	broad.mit.edu	37	8	144997754	144997754	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997754C>T	ENST00000322810.4	-	31	6923	c.6754G>A	c.(6754-6756)Gag>Aag	p.E2252K	PLEC_ENST00000345136.3_Missense_Mutation_p.E2115K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2093K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2142K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2119K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2115K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2083K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2101K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2138K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2252	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTCAGCCGCTCGGCCTCTTCC	0.761																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(6754-6756)GAG>AAG		plectin isoform 1							7.0	8.0	8.0					8																	144997754		1864	3902	5766	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144997754C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6754G>A	8.37:g.144997754C>T	ENSP00000323856:p.Glu2252Lys					PLEC_uc003zab.1_Missense_Mutation_p.E2115K|PLEC_uc003zac.1_Missense_Mutation_p.E2119K|PLEC_uc003zad.2_Missense_Mutation_p.E2115K|PLEC_uc003zae.1_Missense_Mutation_p.E2083K|PLEC_uc003zag.1_Missense_Mutation_p.E2093K|PLEC_uc003zah.2_Missense_Mutation_p.E2101K|PLEC_uc003zaj.2_Missense_Mutation_p.E2142K	p.E2252K	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	6924	-			2252			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.6754G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.967189	0.34754	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.77358	-1.05;-1.05;-1.09;-1.09;-1.09;-1.05;-1.05;-1.06;-1.05	4.98	4.09	0.47781	.	0.000000	0.64402	U	0.000008	T	0.71787	0.3381	M	0.63428	1.95	0.45867	D	0.998724	P;P;P;P;P;P;P;P	0.43352	0.804;0.804;0.804;0.704;0.804;0.804;0.804;0.804	B;B;B;B;B;B;B;B	0.34242	0.178;0.178;0.178;0.086;0.178;0.178;0.178;0.178	T	0.71842	-0.4470	10	0.35671	T	0.21	.	14.9647	0.71182	0.0:0.8558:0.1442:0.0	.	2142;2101;2093;2252;2083;2115;2119;2115	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	2115;2119;2115;2083;2252;2093;2101;2142;2138	ENSP00000344848:E2115K;ENSP00000350277:E2119K;ENSP00000346602:E2115K;ENSP00000381756:E2083K;ENSP00000323856:E2252K;ENSP00000347044:E2093K;ENSP00000348702:E2101K;ENSP00000388180:E2142K;ENSP00000434583:E2138K	ENSP00000323856:E2252K	E	-	1	0	PLEC	145069742	0.993000	0.37304	0.899000	0.35326	0.795000	0.44927	3.472000	0.53114	1.074000	0.40909	0.448000	0.29417	GAG		0.761	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		6	14	0	0	0	0	6	14				
PLEC	5339	broad.mit.edu	37	8	144998138	144998138	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998138C>T	ENST00000322810.4	-	31	6539	c.6370G>A	c.(6370-6372)Gag>Aag	p.E2124K	PLEC_ENST00000345136.3_Missense_Mutation_p.E1987K|PLEC_ENST00000354958.2_Missense_Mutation_p.E1965K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2014K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1991K|PLEC_ENST00000354589.3_Missense_Mutation_p.E1987K|PLEC_ENST00000398774.2_Missense_Mutation_p.E1955K|PLEC_ENST00000356346.3_Missense_Mutation_p.E1973K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2010K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2124	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACGCGCTCCTCAGCCTCACGG	0.726																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(6370-6372)GAG>AAG		plectin isoform 1							6.0	7.0	7.0					8																	144998138		1932	3988	5920	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144998138C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6370G>A	8.37:g.144998138C>T	ENSP00000323856:p.Glu2124Lys					PLEC_uc003zab.1_Missense_Mutation_p.E1987K|PLEC_uc003zac.1_Missense_Mutation_p.E1991K|PLEC_uc003zad.2_Missense_Mutation_p.E1987K|PLEC_uc003zae.1_Missense_Mutation_p.E1955K|PLEC_uc003zag.1_Missense_Mutation_p.E1965K|PLEC_uc003zah.2_Missense_Mutation_p.E1973K|PLEC_uc003zaj.2_Missense_Mutation_p.E2014K	p.E2124K	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	6540	-			2124			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.6370G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668853	0.47677	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;T;D;D;T;D	0.83163	-1.65;-1.64;-1.69;-1.66;-1.4;-1.64;-1.66;-1.41;-1.66	4.45	4.45	0.53987	.	0.000000	0.64402	U	0.000015	D	0.89581	0.6756	M	0.69823	2.125	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.85130	0.997;0.997;0.997;0.994;0.997;0.997;0.997;0.997	D	0.87312	0.2312	10	0.22109	T	0.4	.	16.8673	0.86033	0.0:1.0:0.0:0.0	.	2014;1973;1965;2124;1955;1987;1991;1987	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	1987;1991;1987;1955;2124;1965;1973;2014;2010	ENSP00000344848:E1987K;ENSP00000350277:E1991K;ENSP00000346602:E1987K;ENSP00000381756:E1955K;ENSP00000323856:E2124K;ENSP00000347044:E1965K;ENSP00000348702:E1973K;ENSP00000388180:E2014K;ENSP00000434583:E2010K	ENSP00000323856:E2124K	E	-	1	0	PLEC	145070126	1.000000	0.71417	0.967000	0.41034	0.742000	0.42306	5.710000	0.68392	2.302000	0.77476	0.448000	0.29417	GAG		0.726	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	11	0	0	0	0	3	11				
PLEC	5339	broad.mit.edu	37	8	144998210	144998210	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998210C>G	ENST00000322810.4	-	31	6467	c.6298G>C	c.(6298-6300)Gag>Cag	p.E2100Q	PLEC_ENST00000345136.3_Missense_Mutation_p.E1963Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E1941Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E1990Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E1967Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E1963Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E1931Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E1949Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E1986Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2100	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGGCCTGCTCCTTGCTGCGC	0.726																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(6298-6300)GAG>CAG		plectin isoform 1							8.0	10.0	9.0					8																	144998210		2121	4195	6316	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144998210C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6298G>C	8.37:g.144998210C>G	ENSP00000323856:p.Glu2100Gln					PLEC_uc003zab.1_Missense_Mutation_p.E1963Q|PLEC_uc003zac.1_Missense_Mutation_p.E1967Q|PLEC_uc003zad.2_Missense_Mutation_p.E1963Q|PLEC_uc003zae.1_Missense_Mutation_p.E1931Q|PLEC_uc003zag.1_Missense_Mutation_p.E1941Q|PLEC_uc003zah.2_Missense_Mutation_p.E1949Q|PLEC_uc003zaj.2_Missense_Mutation_p.E1990Q	p.E2100Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	6468	-			2100			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.6298G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.374214	0.24857	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83;-2.83;-2.83;-2.83;-2.83	4.09	3.2	0.36748	.	0.602886	0.14481	U	0.316939	D	0.82273	0.5001	N	0.14661	0.345	0.24917	N	0.992002	B;B;B;B;B;B;B;B	0.11235	0.004;0.002;0.002;0.001;0.002;0.002;0.002;0.002	B;B;B;B;B;B;B;B	0.10450	0.005;0.005;0.005;0.002;0.005;0.005;0.005;0.005	T	0.69555	-0.5114	10	0.33141	T	0.24	.	12.97	0.58508	0.0:0.6897:0.3102:0.0	.	1990;1949;1941;2100;1931;1963;1967;1963	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	1963;1967;1963;1931;2100;1941;1949;1990;1986	ENSP00000344848:E1963Q;ENSP00000350277:E1967Q;ENSP00000346602:E1963Q;ENSP00000381756:E1931Q;ENSP00000323856:E2100Q;ENSP00000347044:E1941Q;ENSP00000348702:E1949Q;ENSP00000388180:E1990Q;ENSP00000434583:E1986Q	ENSP00000323856:E2100Q	E	-	1	0	PLEC	145070198	0.716000	0.27956	1.000000	0.80357	0.519000	0.34347	0.693000	0.25497	0.908000	0.36671	0.448000	0.29417	GAG		0.726	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		5	17	0	0	0	0	5	17				
PLEC	5339	broad.mit.edu	37	8	144998264	144998264	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998264C>G	ENST00000322810.4	-	31	6413	c.6244G>C	c.(6244-6246)Gag>Cag	p.E2082Q	PLEC_ENST00000345136.3_Missense_Mutation_p.E1945Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E1923Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E1972Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E1949Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E1945Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E1913Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E1931Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E1968Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2082	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCTCCAGCTCCAGCTCCGCC	0.711																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(6244-6246)GAG>CAG		plectin isoform 1							13.0	15.0	15.0					8																	144998264		2173	4258	6431	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144998264C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6244G>C	8.37:g.144998264C>G	ENSP00000323856:p.Glu2082Gln					PLEC_uc003zab.1_Missense_Mutation_p.E1945Q|PLEC_uc003zac.1_Missense_Mutation_p.E1949Q|PLEC_uc003zad.2_Missense_Mutation_p.E1945Q|PLEC_uc003zae.1_Missense_Mutation_p.E1913Q|PLEC_uc003zag.1_Missense_Mutation_p.E1923Q|PLEC_uc003zah.2_Missense_Mutation_p.E1931Q|PLEC_uc003zaj.2_Missense_Mutation_p.E1972Q	p.E2082Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	6414	-			2082			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.6244G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.241041	0.39598	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32	4.09	4.09	0.47781	.	0.000000	0.64402	U	0.000012	D	0.95424	0.8514	L	0.54323	1.7	0.54753	D	0.999988	D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.998;0.996;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D;D	0.87578	0.998;0.99;0.99;0.977;0.998;0.998;0.99;0.998	D	0.95450	0.8533	10	0.51188	T	0.08	.	16.0808	0.81003	0.0:1.0:0.0:0.0	.	1972;1931;1923;2082;1913;1945;1949;1945	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	1945;1949;1945;1913;2082;1923;1931;1972;1968	ENSP00000344848:E1945Q;ENSP00000350277:E1949Q;ENSP00000346602:E1945Q;ENSP00000381756:E1913Q;ENSP00000323856:E2082Q;ENSP00000347044:E1923Q;ENSP00000348702:E1931Q;ENSP00000388180:E1972Q;ENSP00000434583:E1968Q	ENSP00000323856:E2082Q	E	-	1	0	PLEC	145070252	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	5.799000	0.69101	2.113000	0.64589	0.448000	0.29417	GAG		0.711	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		3	27	0	0	0	0	3	27				
PLEC	5339	broad.mit.edu	37	8	144998319	144998319	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998319C>G	ENST00000322810.4	-	31	6358	c.6189G>C	c.(6187-6189)gaG>gaC	p.E2063D	PLEC_ENST00000345136.3_Missense_Mutation_p.E1926D|PLEC_ENST00000354958.2_Missense_Mutation_p.E1904D|PLEC_ENST00000436759.2_Missense_Mutation_p.E1953D|PLEC_ENST00000357649.2_Missense_Mutation_p.E1930D|PLEC_ENST00000354589.3_Missense_Mutation_p.E1926D|PLEC_ENST00000398774.2_Missense_Mutation_p.E1894D|PLEC_ENST00000356346.3_Missense_Mutation_p.E1912D|PLEC_ENST00000527096.1_Missense_Mutation_p.E1949D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2063	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGCCAGGATCTCCTCCTCCA	0.701																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(6187-6189)GAG>GAC		plectin isoform 1							15.0	18.0	17.0					8																	144998319		2181	4262	6443	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144998319C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6189G>C	8.37:g.144998319C>G	ENSP00000323856:p.Glu2063Asp					PLEC_uc003zab.1_Missense_Mutation_p.E1926D|PLEC_uc003zac.1_Missense_Mutation_p.E1930D|PLEC_uc003zad.2_Missense_Mutation_p.E1926D|PLEC_uc003zae.1_Missense_Mutation_p.E1894D|PLEC_uc003zag.1_Missense_Mutation_p.E1904D|PLEC_uc003zah.2_Missense_Mutation_p.E1912D|PLEC_uc003zaj.2_Missense_Mutation_p.E1953D	p.E2063D	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	6359	-			2063			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.6189G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345402	0.41498	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78	4.09	4.09	0.47781	.	0.000000	0.64402	U	0.000012	D	0.94483	0.8224	M	0.69823	2.125	0.41873	D	0.990285	D;D;D;D;D;D;D;D	0.76494	0.999;0.996;0.996;0.994;0.999;0.999;0.998;0.999	D;D;D;D;D;D;D;D	0.80764	0.994;0.987;0.987;0.97;0.994;0.994;0.99;0.994	D	0.95019	0.8159	10	0.56958	D	0.05	.	16.0808	0.81003	0.0:1.0:0.0:0.0	.	1953;1912;1904;2063;1894;1926;1930;1926	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	D	1926;1930;1926;1894;2063;1904;1912;1953;1949	ENSP00000344848:E1926D;ENSP00000350277:E1930D;ENSP00000346602:E1926D;ENSP00000381756:E1894D;ENSP00000323856:E2063D;ENSP00000347044:E1904D;ENSP00000348702:E1912D;ENSP00000388180:E1953D;ENSP00000434583:E1949D	ENSP00000323856:E2063D	E	-	3	2	PLEC	145070307	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.999000	0.49473	2.113000	0.64589	0.448000	0.29417	GAG		0.701	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		4	34	0	0	0	0	4	34				
PLEC	5339	broad.mit.edu	37	8	144998346	144998346	+	Silent	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998346C>G	ENST00000322810.4	-	31	6331	c.6162G>C	c.(6160-6162)ctG>ctC	p.L2054L	PLEC_ENST00000345136.3_Silent_p.L1917L|PLEC_ENST00000354958.2_Silent_p.L1895L|PLEC_ENST00000436759.2_Silent_p.L1944L|PLEC_ENST00000357649.2_Silent_p.L1921L|PLEC_ENST00000354589.3_Silent_p.L1917L|PLEC_ENST00000398774.2_Silent_p.L1885L|PLEC_ENST00000356346.3_Silent_p.L1903L|PLEC_ENST00000527096.1_Silent_p.L1940L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2054	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCGCTGCCTCAGCGTGTCCT	0.692																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(6160-6162)CTG>CTC		plectin isoform 1							15.0	18.0	17.0					8																	144998346		2164	4248	6412	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144998346C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6162G>C	8.37:g.144998346C>G						PLEC_uc003zab.1_Silent_p.L1917L|PLEC_uc003zac.1_Silent_p.L1921L|PLEC_uc003zad.2_Silent_p.L1917L|PLEC_uc003zae.1_Silent_p.L1885L|PLEC_uc003zag.1_Silent_p.L1895L|PLEC_uc003zah.2_Silent_p.L1903L|PLEC_uc003zaj.2_Silent_p.L1944L	p.L2054L	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	6332	-			2054			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.6162G>C	CCDS43772.1																																																																																				0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		5	23	0	0	0	0	5	23				
PLEC	5339	broad.mit.edu	37	8	144998529	144998529	+	Silent	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998529G>A	ENST00000322810.4	-	31	6148	c.5979C>T	c.(5977-5979)ctC>ctT	p.L1993L	PLEC_ENST00000345136.3_Silent_p.L1856L|PLEC_ENST00000354958.2_Silent_p.L1834L|PLEC_ENST00000436759.2_Silent_p.L1883L|PLEC_ENST00000357649.2_Silent_p.L1860L|PLEC_ENST00000354589.3_Silent_p.L1856L|PLEC_ENST00000398774.2_Silent_p.L1824L|PLEC_ENST00000356346.3_Silent_p.L1842L|PLEC_ENST00000527096.1_Silent_p.L1879L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1993	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTTCTCCTTGAGCGCGATCT	0.741																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(5977-5979)CTC>CTT		plectin isoform 1							7.0	9.0	8.0					8																	144998529		1858	3872	5730	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144998529G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.5979C>T	8.37:g.144998529G>A						PLEC_uc003zab.1_Silent_p.L1856L|PLEC_uc003zac.1_Silent_p.L1860L|PLEC_uc003zad.2_Silent_p.L1856L|PLEC_uc003zae.1_Silent_p.L1824L|PLEC_uc003zag.1_Silent_p.L1834L|PLEC_uc003zah.2_Silent_p.L1842L|PLEC_uc003zaj.2_Silent_p.L1883L	p.L1993L	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	6149	-			1993			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.5979C>T	CCDS43772.1																																																																																				0.741	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		10	19	0	0	0	0	10	19				
PLEC	5339	broad.mit.edu	37	8	144999083	144999083	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144999083C>T	ENST00000322810.4	-	31	5594	c.5425G>A	c.(5425-5427)Gag>Aag	p.E1809K	PLEC_ENST00000345136.3_Missense_Mutation_p.E1672K|PLEC_ENST00000354958.2_Missense_Mutation_p.E1650K|PLEC_ENST00000436759.2_Missense_Mutation_p.E1699K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1676K|PLEC_ENST00000354589.3_Missense_Mutation_p.E1672K|PLEC_ENST00000398774.2_Missense_Mutation_p.E1640K|PLEC_ENST00000356346.3_Missense_Mutation_p.E1658K|PLEC_ENST00000527096.1_Missense_Mutation_p.E1695K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1809	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCCGCGCCTCGCGCTCCGCC	0.726																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(5425-5427)GAG>AAG		plectin isoform 1																																				SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144999083C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.5425G>A	8.37:g.144999083C>T	ENSP00000323856:p.Glu1809Lys					PLEC_uc003zab.1_Missense_Mutation_p.E1672K|PLEC_uc003zac.1_Missense_Mutation_p.E1676K|PLEC_uc003zad.2_Missense_Mutation_p.E1672K|PLEC_uc003zae.1_Missense_Mutation_p.E1640K|PLEC_uc003zag.1_Missense_Mutation_p.E1650K|PLEC_uc003zah.2_Missense_Mutation_p.E1658K|PLEC_uc003zaj.2_Missense_Mutation_p.E1699K	p.E1809K	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	5595	-			1809			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.5425G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825847	0.71143	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.79247	-1.2;-1.18;-1.25;-1.19;-1.21;-1.17;-1.17;-1.17;-1.2	4.71	4.71	0.59529	.	0.184464	0.33309	U	0.005060	D	0.86686	0.5992	M	0.66939	2.045	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	0.995;0.995;0.995;0.991;0.995;0.995;1.0;0.995	P;P;P;P;P;P;D;P	0.76071	0.749;0.749;0.749;0.566;0.749;0.749;0.987;0.749	D	0.87305	0.2308	10	0.49607	T	0.09	.	17.273	0.87107	0.0:1.0:0.0:0.0	.	1699;1658;1650;1809;1640;1672;1676;1672	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	1672;1676;1672;1640;1809;1650;1658;1699;1695	ENSP00000344848:E1672K;ENSP00000350277:E1676K;ENSP00000346602:E1672K;ENSP00000381756:E1640K;ENSP00000323856:E1809K;ENSP00000347044:E1650K;ENSP00000348702:E1658K;ENSP00000388180:E1699K;ENSP00000434583:E1695K	ENSP00000323856:E1809K	E	-	1	0	PLEC	145071071	1.000000	0.71417	0.933000	0.37362	0.739000	0.42172	5.728000	0.68531	2.166000	0.68216	0.542000	0.68232	GAG		0.726	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		9	14	0	0	0	0	9	14				
PLEC	5339	broad.mit.edu	37	8	144999089	144999089	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144999089C>G	ENST00000322810.4	-	31	5588	c.5419G>C	c.(5419-5421)Gag>Cag	p.E1807Q	PLEC_ENST00000345136.3_Missense_Mutation_p.E1670Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E1648Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E1697Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E1674Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E1670Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E1638Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E1656Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E1693Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1807	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTCGCGCTCCGCCTCCTCC	0.721																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(5419-5421)GAG>CAG		plectin isoform 1							4.0	5.0	5.0					8																	144999089		1891	3784	5675	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144999089C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.5419G>C	8.37:g.144999089C>G	ENSP00000323856:p.Glu1807Gln					PLEC_uc003zab.1_Missense_Mutation_p.E1670Q|PLEC_uc003zac.1_Missense_Mutation_p.E1674Q|PLEC_uc003zad.2_Missense_Mutation_p.E1670Q|PLEC_uc003zae.1_Missense_Mutation_p.E1638Q|PLEC_uc003zag.1_Missense_Mutation_p.E1648Q|PLEC_uc003zah.2_Missense_Mutation_p.E1656Q|PLEC_uc003zaj.2_Missense_Mutation_p.E1697Q	p.E1807Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	5589	-			1807			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.5419G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953601	0.53293	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.79352	-1.18;-1.17;-1.23;-1.26;-1.15;-1.24;-1.23;-1.24;-1.18	4.71	4.71	0.59529	.	0.090520	0.43260	U	0.000593	D	0.86104	0.5853	L	0.61218	1.895	0.49915	D	0.999835	D;D;D;D;D;D;D;D	0.71674	0.997;0.997;0.997;0.995;0.997;0.997;0.998;0.997	D;D;D;P;D;D;D;D	0.77557	0.913;0.913;0.913;0.82;0.913;0.913;0.99;0.913	D	0.85958	0.1468	10	0.41790	T	0.15	.	17.273	0.87107	0.0:1.0:0.0:0.0	.	1697;1656;1648;1807;1638;1670;1674;1670	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	1670;1674;1670;1638;1807;1648;1656;1697;1693	ENSP00000344848:E1670Q;ENSP00000350277:E1674Q;ENSP00000346602:E1670Q;ENSP00000381756:E1638Q;ENSP00000323856:E1807Q;ENSP00000347044:E1648Q;ENSP00000348702:E1656Q;ENSP00000388180:E1697Q;ENSP00000434583:E1693Q	ENSP00000323856:E1807Q	E	-	1	0	PLEC	145071077	1.000000	0.71417	0.916000	0.36221	0.804000	0.45430	4.626000	0.61269	2.166000	0.68216	0.542000	0.68232	GAG		0.721	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		7	13	0	0	0	0	7	13				
CNTLN	54875	broad.mit.edu	37	9	17409412	17409412	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:17409412C>A	ENST00000380647.3	+	16	2821	c.2737C>A	c.(2737-2739)Caa>Aaa	p.Q913K	CNTLN_ENST00000425824.1_Missense_Mutation_p.Q913K|CNTLN_ENST00000262360.5_Missense_Mutation_p.Q913K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	913					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGAAGACAGCCAAACACAAGG	0.343																																						uc003zmz.2		NA																	0				pancreas(1)	1						c.(2734-2736)CAA>AAA		centlein isoform 1							150.0	151.0	150.0					9																	17409412		1819	4082	5901	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17409412C>A	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.2737C>A	9.37:g.17409412C>A	ENSP00000370021:p.Gln913Lys					CNTLN_uc003zmy.2_Missense_Mutation_p.Q913K|CNTLN_uc010mio.2_Missense_Mutation_p.Q592K	p.Q912K	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	16	2760	+			913					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.2734C>A	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.367452	0.24771	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.16743	2.32;2.32;2.58	5.21	0.997	0.19851	.	.	.	.	.	T	0.06917	0.0176	N	0.12569	0.235	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.003	B;B;B	0.11329	0.001;0.005;0.006	T	0.42481	-0.9449	9	0.06236	T	0.91	.	5.0456	0.14483	0.1244:0.5682:0.2225:0.085	.	913;913;913	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	K	913	ENSP00000370021:Q913K;ENSP00000392798:Q913K;ENSP00000262360:Q913K	ENSP00000262360:Q913K	Q	+	1	0	CNTLN	17399412	0.001000	0.12720	0.000000	0.03702	0.923000	0.55619	0.217000	0.17603	0.083000	0.17047	0.591000	0.81541	CAA		0.343	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		39	146	1	0	2.05e-20	2.27e-20	39	146				
MLLT3	4300	broad.mit.edu	37	9	20346501	20346501	+	Silent	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:20346501C>A	ENST00000380338.4	-	11	1933	c.1647G>T	c.(1645-1647)tcG>tcT	p.S549S	MLLT3_ENST00000380321.1_Silent_p.S143S|MLLT3_ENST00000355930.6_Silent_p.S119S|MLLT3_ENST00000429426.2_Silent_p.S546S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	549					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TTTTGTCCAGCGAGCAAAGAT	0.388			T	MLL	ALL																																	uc003zoe.2		NA		Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				lung(2)|ovary(1)	3						c.(1645-1647)TCG>TCT		myeloid/lymphoid or mixed-lineage leukemia							159.0	141.0	148.0					9																	20346501		2203	4300	6503	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20346501C>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.1647G>T	9.37:g.20346501C>A						MLLT3_uc011lne.1_Silent_p.S517S|MLLT3_uc011lnf.1_Silent_p.S546S	p.S549S	NM_004529	NP_004520	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	11	1906	-			549					B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.1647G>T	CCDS6494.1																																																																																				0.388	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	84	1	0	0.004672	0.00482677	3	84				
FOCAD	54914	broad.mit.edu	37	9	20986380	20986380	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:20986380G>A	ENST00000380249.1	+	42	5186	c.4822G>A	c.(4822-4824)Gtg>Atg	p.V1608M	FOCAD_ENST00000605086.1_Missense_Mutation_p.V1044M|FOCAD_ENST00000338382.6_Missense_Mutation_p.V1608M	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1608						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GAGCGTTGCTGTGCAGCACCG	0.512																																						uc003zog.1		NA																	0				ovary(8)|breast(1)|kidney(1)	10						c.(4822-4824)GTG>ATG		hypothetical protein LOC54914							133.0	100.0	111.0					9																	20986380		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20986380G>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.4822G>A	9.37:g.20986380G>A	ENSP00000369599:p.Val1608Met					KIAA1797_uc003zoh.1_Missense_Mutation_p.V1044M	p.V1608M	NM_017794	NP_060264	Q5VW36	K1797_HUMAN		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	42	5185	+			1608					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.4822G>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386696	0.25031	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.20463	2.07;2.07	5.72	-3.89	0.04193	.	1.063310	0.07193	N	0.856172	T	0.10981	0.0268	N	0.17474	0.49	0.09310	N	1	B	0.13145	0.007	B	0.13407	0.009	T	0.36480	-0.9746	10	0.27785	T	0.31	-29.1431	7.1396	0.25548	0.4258:0.2919:0.2823:0.0	.	1608	Q5VW36	K1797_HUMAN	M	1608	ENSP00000369599:V1608M;ENSP00000344307:V1608M	ENSP00000344307:V1608M	V	+	1	0	KIAA1797	20976380	0.000000	0.05858	0.008000	0.14137	0.762000	0.43233	-0.251000	0.08818	-0.733000	0.04850	0.557000	0.71058	GTG		0.512	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		35	38	0	0	0	0	35	38				
PTPDC1	138639	broad.mit.edu	37	9	96860086	96860086	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:96860086G>A	ENST00000375360.3	+	7	1416	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q	PTPDC1_ENST00000288976.3_Missense_Mutation_p.R411Q	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	359					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TTTGACAATCGAGGCATGATT	0.502																																						uc004auf.1		NA																	0				ovary(1)	1						c.(1075-1077)CGA>CAA		protein tyrosine phosphatase domain containing 1							60.0	62.0	61.0					9																	96860086		2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96860086G>A	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.1076G>A	9.37:g.96860086G>A	ENSP00000364509:p.Arg359Gln					PTPDC1_uc004aug.1_Missense_Mutation_p.R359Q|PTPDC1_uc004auh.1_Missense_Mutation_p.R411Q|PTPDC1_uc010mrj.1_Missense_Mutation_p.R413Q|PTPDC1_uc010mri.1_Missense_Mutation_p.R411Q	p.R359Q	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN			7	1416	+			359					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.1076G>A	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	0.037	-1.302375	0.01353	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.09817	2.94;2.95	5.93	1.98	0.26296	.	0.453502	0.26023	N	0.026813	T	0.01523	0.0049	N	0.00085	-2.2	0.24107	N	0.995851	B;B;B;B	0.11235	0.004;0.003;0.004;0.004	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.44952	-0.9294	10	0.02654	T	1	-3.5196	6.8844	0.24191	0.6444:0.2741:0.0816:0.0	.	413;411;413;359	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	Q	359;411	ENSP00000364509:R359Q;ENSP00000288976:R411Q	ENSP00000288976:R411Q	R	+	2	0	PTPDC1	95899907	0.999000	0.42202	0.245000	0.24217	0.262000	0.26303	1.903000	0.39858	0.077000	0.16863	-0.345000	0.07892	CGA		0.502	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		21	110	0	0	0	0	21	110				
ODF2	4957	broad.mit.edu	37	9	131260723	131260723	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:131260723G>C	ENST00000434106.3	+	19	2407	c.2044G>C	c.(2044-2046)Gag>Cag	p.E682Q	ODF2_ENST00000393527.3_Missense_Mutation_p.E658Q|ODF2_ENST00000604420.1_Missense_Mutation_p.E682Q|ODF2_ENST00000444119.2_Missense_Mutation_p.E658Q|ODF2_ENST00000351030.3_Missense_Mutation_p.E677Q|ODF2_ENST00000372807.5_Missense_Mutation_p.E677Q	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	682					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CCAGAATATCGAGTTCCTACA	0.577																																						uc011mbd.1		NA																	0				ovary(1)	1						c.(2044-2046)GAG>CAG		outer dense fiber of sperm tails 2 isoform 1							69.0	62.0	64.0					9																	131260723		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131260723G>C	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.2044G>C	9.37:g.131260723G>C	ENSP00000403453:p.Glu682Gln					ODF2_uc004bvb.2_Missense_Mutation_p.E658Q|ODF2_uc011mbe.1_Missense_Mutation_p.E677Q|ODF2_uc004bvc.2_Missense_Mutation_p.E658Q|ODF2_uc004bvd.3_Missense_Mutation_p.E682Q|ODF2_uc004bvh.2_Missense_Mutation_p.E88Q	p.E682Q	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN			19	2355	+			682			Potential.		B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.2044G>C	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534982	0.85812	.	.	ENSG00000136811	ENST00000351030;ENST00000372796;ENST00000303890	D;D;D	0.83914	-1.78;-1.78;-1.78	5.67	4.78	0.61160	.	0.074497	0.64402	D	0.000020	D	0.86577	0.5966	L	0.45352	1.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75020	0.977;0.974;0.985;0.985	D	0.84695	0.0725	10	0.30078	T	0.28	-26.8648	13.9204	0.63928	0.073:0.0:0.927:0.0	.	677;27;682;658	Q5BJF6-4;Q6PJQ8;Q5BJF6;Q5BJF6-3	.;.;ODFP2_HUMAN;.	Q	677;682;658	ENSP00000342581:E677Q;ENSP00000361882:E682Q;ENSP00000307781:E658Q	ENSP00000307781:E658Q	E	+	1	0	ODF2	130300544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.901000	0.92560	1.397000	0.46682	0.655000	0.94253	GAG		0.577	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			5	17	0	0	0	0	5	17				
ODF2	4957	broad.mit.edu	37	9	131260797	131260797	+	Silent	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:131260797G>A	ENST00000434106.3	+	19	2481	c.2118G>A	c.(2116-2118)cgG>cgA	p.R706R	ODF2_ENST00000393527.3_Silent_p.R682R|ODF2_ENST00000604420.1_Silent_p.R706R|ODF2_ENST00000444119.2_Silent_p.R682R|ODF2_ENST00000351030.3_Silent_p.R701R|ODF2_ENST00000372807.5_Silent_p.R701R	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	706					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGAAAACACGGGAATGTGGGA	0.567																																						uc011mbd.1		NA																	0				ovary(1)	1						c.(2116-2118)CGG>CGA		outer dense fiber of sperm tails 2 isoform 1							70.0	61.0	64.0					9																	131260797		2203	4300	6503	SO:0001819	synonymous_variant	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131260797G>A	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.2118G>A	9.37:g.131260797G>A						ODF2_uc004bvb.2_Silent_p.R682R|ODF2_uc011mbe.1_Silent_p.R701R|ODF2_uc004bvc.2_Silent_p.R682R|ODF2_uc004bvd.3_Silent_p.R706R|ODF2_uc004bvh.2_Silent_p.R112R	p.R706R	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN			19	2429	+			706			Potential.		B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	37	c.2118G>A	CCDS56588.1																																																																																				0.567	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			4	16	0	0	0	0	4	16				
ODF2	4957	broad.mit.edu	37	9	131261346	131261346	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:131261346G>C	ENST00000434106.3	+	20	2605	c.2242G>C	c.(2242-2244)Gag>Cag	p.E748Q	ODF2_ENST00000393527.3_Missense_Mutation_p.E724Q|ODF2_ENST00000604420.1_Missense_Mutation_p.E748Q|ODF2_ENST00000444119.2_Missense_Mutation_p.E724Q|ODF2_ENST00000351030.3_Missense_Mutation_p.E743Q|ODF2_ENST00000372807.5_Missense_Mutation_p.E743Q	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	748					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CCTGGACCTTGAGACCCAGCT	0.577																																						uc011mbd.1		NA																	0				ovary(1)	1						c.(2242-2244)GAG>CAG		outer dense fiber of sperm tails 2 isoform 1							116.0	107.0	110.0					9																	131261346		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131261346G>C	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.2242G>C	9.37:g.131261346G>C	ENSP00000403453:p.Glu748Gln					ODF2_uc004bvb.2_Missense_Mutation_p.E724Q|ODF2_uc011mbe.1_Missense_Mutation_p.E743Q|ODF2_uc004bvc.2_Missense_Mutation_p.E724Q|ODF2_uc004bvd.3_Missense_Mutation_p.E748Q|ODF2_uc004bvh.2_Missense_Mutation_p.E154Q	p.E748Q	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN			20	2553	+			748			Potential.		B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.2242G>C	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809265	0.70797	.	.	ENSG00000136811	ENST00000351030;ENST00000372796;ENST00000303890	T;T;T	0.51574	0.78;0.7;0.77	5.88	5.88	0.94601	.	0.065438	0.64402	D	0.000019	T	0.68118	0.2966	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.67145	0.996;0.981;0.996;0.996	D;P;D;D	0.65773	0.911;0.779;0.938;0.911	T	0.63075	-0.6718	10	0.30078	T	0.28	-21.2983	19.2304	0.93836	0.0:0.0:1.0:0.0	.	743;93;748;724	Q5BJF6-4;Q6PJQ8;Q5BJF6;Q5BJF6-3	.;.;ODFP2_HUMAN;.	Q	743;748;724	ENSP00000342581:E743Q;ENSP00000361882:E748Q;ENSP00000307781:E724Q	ENSP00000307781:E724Q	E	+	1	0	ODF2	130301167	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.040000	0.70980	2.782000	0.95742	0.655000	0.94253	GAG		0.577	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			39	134	0	0	0	0	39	134				
WWOX	51741	broad.mit.edu	37	16	78466606	78466607	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:78466606_78466607delAC	ENST00000566780.1	+	8	1379_1380	c.1013_1014delAC	c.(1012-1014)tacfs	p.Y338fs	WWOX_ENST00000408984.3_Frame_Shift_Del_p.Y338fs|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	338	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TGGTGGGTGTACACACTGCTGT	0.554																																						uc002ffk.2		NA																	0					0						c.(1012-1014)TACfs		WW domain-containing oxidoreductase isoform 1																																				SO:0001589	frameshift_variant	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:78466606_78466607delAC	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.1013_1014delAC	16.37:g.78466610_78466611delAC	ENSP00000457230:p.Tyr338fs					WWOX_uc010vnk.1_Frame_Shift_Del_p.Y225fs|WWOX_uc002ffl.2_Intron|WWOX_uc010che.2_Intron	p.Y338fs	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	8	1138_1139	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	338			Interaction with MAPT (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Frame_Shift_Del	DEL	ENST00000566780.1	37	c.1013_1014delAC	CCDS42196.1																																																																																				0.554	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			8	611	NA	NA	NA	NA	8	611	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176637167	176637168	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:176637167_176637168delTT	ENST00000439151.2	+	5	1812_1813	c.1767_1768delTT	c.(1765-1770)tctttafs	p.L591fs	NSD1_ENST00000354179.4_Frame_Shift_Del_p.L322fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.L322fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.L488fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	591					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATGGTGACTCTTTATTGGGCTT	0.446			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(1765-1770)TCTTTAfs		nuclear receptor binding SET domain protein 1																																				SO:0001589	frameshift_variant	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176637167_176637168delTT	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.1767_1768delTT	5.37:g.176637167_176637168delTT	ENSP00000395929:p.Leu591fs	HNSCC(47;0.14)				NSD1_uc003mft.3_Frame_Shift_Del_p.S320fs|NSD1_uc003mfs.1_Frame_Shift_Del_p.S486fs|NSD1_uc011dfx.1_Frame_Shift_Del_p.S237fs	p.S589fs	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	1905_1906	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	589_590					Q96PD8|Q96RN7	Frame_Shift_Del	DEL	ENST00000439151.2	37	c.1767_1768delTT	CCDS4412.1																																																																																				0.446	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		76	84	NA	NA	NA	NA	76	84	---	---	---	---
RFPL4B	442247	broad.mit.edu	37	6	112671535	112671536	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:112671535_112671536insT	ENST00000441065.2	+	3	937_938	c.625_626insT	c.(625-627)attfs	p.I209fs	RP11-506B6.6_ENST00000585611.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	209	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CCGTGTGGGAATTTTCCTGGAT	0.465																																						uc003pvx.1		NA																	0					0						c.(625-627)ATTfs		ret finger protein-like 4B																																				SO:0001589	frameshift_variant	442247						zinc ion binding	g.chr6:112671535_112671536insT	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.629dupT	6.37:g.112671539_112671539dupT	ENSP00000423391:p.Ile209fs						p.I209fs	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	3	937_938	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	209			B30.2/SPRY.		A2RU91	Frame_Shift_Ins	INS	ENST00000441065.2	37	c.625_626insT	CCDS34515.1																																																																																				0.465	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734		30	117	NA	NA	NA	NA	30	117	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144996072	144996073	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144996072_144996073insT	ENST00000322810.4	-	32	8496_8497	c.8327_8328insA	c.(8326-8328)gagfs	p.E2776fs	PLEC_ENST00000345136.3_Frame_Shift_Ins_p.E2639fs|PLEC_ENST00000354958.2_Frame_Shift_Ins_p.E2617fs|PLEC_ENST00000436759.2_Frame_Shift_Ins_p.E2666fs|PLEC_ENST00000357649.2_Frame_Shift_Ins_p.E2643fs|PLEC_ENST00000354589.3_Frame_Shift_Ins_p.E2639fs|PLEC_ENST00000398774.2_Frame_Shift_Ins_p.E2607fs|PLEC_ENST00000356346.3_Frame_Shift_Ins_p.E2625fs|PLEC_ENST00000527096.1_Frame_Shift_Ins_p.E2662fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2776	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGGCTCTGCCTCTGCCGCGGG	0.688																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(8326-8328)GAGfs		plectin isoform 1																																				SO:0001589	frameshift_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144996072_144996073insT	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8328dupA	8.37:g.144996073_144996073dupT	ENSP00000323856:p.Glu2776fs					PLEC_uc003zab.1_Frame_Shift_Ins_p.E2639fs|PLEC_uc003zac.1_Frame_Shift_Ins_p.E2643fs|PLEC_uc003zad.2_Frame_Shift_Ins_p.E2639fs|PLEC_uc003zae.1_Frame_Shift_Ins_p.E2607fs|PLEC_uc003zag.1_Frame_Shift_Ins_p.E2617fs|PLEC_uc003zah.2_Frame_Shift_Ins_p.E2625fs|PLEC_uc003zaj.2_Frame_Shift_Ins_p.E2666fs	p.E2776fs	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	8497_8498	-			2776			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Frame_Shift_Ins	INS	ENST00000322810.4	37	c.8327_8328insA	CCDS43772.1																																																																																				0.688	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		9	35	NA	NA	NA	NA	9	35	---	---	---	---
