#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
SPEN	23013	broad.mit.edu	37	1	16203019	16203019	+	Silent	SNP	C	C	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:16203019C>A	ENST00000375759.3	+	3	931	c.727C>A	c.(727-729)Cgg>Agg	p.R243R	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	243	Arg-rich.|Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.R243R(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CAGCAGGAGTCGGTCACCACA	0.547																																						uc001axk.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(727-729)CGG>AGG		spen homolog, transcriptional regulator							65.0	62.0	63.0					1																	16203019		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16203019C>A		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.727C>A	1.37:g.16203019C>A						SPEN_uc010obp.1_Silent_p.R202R	p.R243R	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	3	931	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	243			Ser-rich.|Arg-rich.|By similarity.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.727C>A	CCDS164.1																																																																																				0.547	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		27	55	1	0	8.25e-16	9.63e-16	27	55				
SLC9A1	6548	broad.mit.edu	37	1	27427043	27427043	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:27427043C>A	ENST00000263980.3	-	12	2778	c.2203G>T	c.(2203-2205)Gaa>Taa	p.E735*	SLC9A1_ENST00000490329.1_5'Flank|SLC9A1_ENST00000545949.1_Nonsense_Mutation_p.E396*	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	735					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)	p.E735*(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TTCAGCTCTTCATTCACCAGG	0.607																																						uc001bnm.2		NA																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(2203-2205)GAA>TAA		solute carrier family 9, isoform A1	Amiloride(DB00594)						235.0	223.0	227.0					1																	27427043		2203	4300	6503	SO:0001587	stop_gained	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27427043C>A	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.2203G>T	1.37:g.27427043C>A	ENSP00000263980:p.Glu735*					SLC9A1_uc001bnl.2_Nonsense_Mutation_p.E239*|SLC9A1_uc010ofk.1_Nonsense_Mutation_p.E396*	p.E735*	NM_003047	NP_003038	P19634	SL9A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	12	2829	-			735			Cytoplasmic (Potential).		B1ALD6|D3DPL4|Q96EM2	Nonsense_Mutation	SNP	ENST00000263980.3	37	c.2203G>T	CCDS295.1	.	.	.	.	.	.	.	.	.	.	C	41	8.658654	0.98903	.	.	ENSG00000090020	ENST00000263980;ENST00000374089;ENST00000545949;ENST00000447808	.	.	.	4.07	4.07	0.47477	.	0.581328	0.14996	N	0.286389	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	16.3937	0.83548	0.0:1.0:0.0:0.0	.	.	.	.	X	735;239;396;156	.	ENSP00000263980:E735X	E	-	1	0	SLC9A1	27299630	1.000000	0.71417	0.988000	0.46212	0.108000	0.19459	6.538000	0.73852	2.273000	0.75805	0.585000	0.79938	GAA		0.607	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		111	325	1	0	5.55e-77	6.67e-77	111	325				
LCK	3932	broad.mit.edu	37	1	32739961	32739961	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:32739961G>A	ENST00000336890.5	+	2	169	c.31G>A	c.(31-33)Gat>Aat	p.D11N	LCK_ENST00000333070.4_Missense_Mutation_p.D11N|LCK_ENST00000373564.3_Missense_Mutation_p.D11N	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	11	Interactions with CD4 and CD8. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	ACACCCGGAAGATGACTGGAT	0.567			T	TRB@	T-ALL																																	uc001bux.2		NA		Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		0				lung(3)|central_nervous_system(2)|ovary(1)	6						c.(31-33)GAT>AAT		lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)						106.0	92.0	97.0					1																	32739961		2203	4300	6503	SO:0001583	missense	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32739961G>A	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.31G>A	1.37:g.32739961G>A	ENSP00000337825:p.Asp11Asn					LCK_uc001buy.2_Missense_Mutation_p.D11N|LCK_uc001buz.2_Missense_Mutation_p.D11N|LCK_uc010ohc.1_Missense_Mutation_p.D55N|LCK_uc001bva.2_Missense_Mutation_p.D11N	p.D11N	NM_005356	NP_005347	P06239	LCK_HUMAN			2	169	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	11			Interactions with CD4 and CD8 (By similarity).		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	37	c.31G>A	CCDS359.1	.	.	.	.	.	.	.	.	.	.	g	21.1	4.099070	0.76983	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000461712;ENST00000373562;ENST00000477031;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.03	5.03	0.67393	.	0.090529	0.45361	D	0.000369	T	0.49304	0.1549	L	0.61218	1.895	0.35058	D	0.761262	B;P;B;B	0.44241	0.361;0.829;0.025;0.001	B;B;B;B	0.42916	0.081;0.402;0.023;0.004	T	0.59327	-0.7475	10	0.23302	T	0.38	.	17.3642	0.87359	0.0:0.0:1.0:0.0	.	55;11;11;11	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	N	11;11;11;11;11;55;55;11;55;11	ENSP00000337825:D11N;ENSP00000431517:D11N;ENSP00000435605:D11N;ENSP00000434525:D11N;ENSP00000362663:D11N;ENSP00000436554:D55N;ENSP00000362658:D55N;ENSP00000328213:D11N;ENSP00000362665:D11N	ENSP00000328213:D11N	D	+	1	0	LCK	32512548	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.213000	0.65230	2.519000	0.84933	0.487000	0.48397	GAT		0.567	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		11	83	0	0	0	0	11	83				
LCK	3932	broad.mit.edu	37	1	32740021	32740021	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:32740021G>T	ENST00000336890.5	+	2	229	c.91G>T	c.(91-93)Gat>Tat	p.D31Y	LCK_ENST00000333070.4_Missense_Mutation_p.D31Y|LCK_ENST00000373564.3_Missense_Mutation_p.D31Y	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase	31	Interactions with CD4 and CD8. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	AGTCCCACTGGATGGCAAGGG	0.552			T	TRB@	T-ALL																																	uc001bux.2		NA		Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		0				lung(3)|central_nervous_system(2)|ovary(1)	6						c.(91-93)GAT>TAT		lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)						90.0	78.0	82.0					1																	32740021		2203	4300	6503	SO:0001583	missense	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32740021G>T	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.91G>T	1.37:g.32740021G>T	ENSP00000337825:p.Asp31Tyr					LCK_uc001buy.2_Missense_Mutation_p.D31Y|LCK_uc001buz.2_Missense_Mutation_p.D31Y|LCK_uc010ohc.1_Missense_Mutation_p.D75Y|LCK_uc001bva.2_Missense_Mutation_p.D31Y	p.D31Y	NM_005356	NP_005347	P06239	LCK_HUMAN			2	229	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	31			Interactions with CD4 and CD8 (By similarity).		D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Missense_Mutation	SNP	ENST00000336890.5	37	c.91G>T	CCDS359.1	.	.	.	.	.	.	.	.	.	.	g	18.32	3.598879	0.66332	.	.	ENSG00000182866	ENST00000336890;ENST00000482949;ENST00000495610;ENST00000461712;ENST00000373562;ENST00000477031;ENST00000373557;ENST00000333070;ENST00000436824;ENST00000373564	T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.05	5.05	0.67936	.	0.176421	0.38005	N	0.001841	T	0.47469	0.1447	L	0.44542	1.39	0.36517	D	0.869927	D;P;P;P	0.57571	0.98;0.874;0.759;0.947	P;B;P;P	0.47744	0.543;0.417;0.501;0.556	T	0.54430	-0.8295	10	0.36615	T	0.2	.	15.5592	0.76229	0.0:0.0:1.0:0.0	.	75;31;31;31	E7EN21;Q573B4;P06239-3;P06239	.;.;.;LCK_HUMAN	Y	31;31;31;31;31;75;75;31;75;31	ENSP00000337825:D31Y;ENSP00000431517:D31Y;ENSP00000435605:D31Y;ENSP00000434525:D31Y;ENSP00000362663:D31Y;ENSP00000436554:D75Y;ENSP00000362658:D75Y;ENSP00000328213:D31Y;ENSP00000362665:D31Y	ENSP00000328213:D31Y	D	+	1	0	LCK	32512608	0.995000	0.38212	1.000000	0.80357	0.983000	0.72400	1.395000	0.34520	2.528000	0.85240	0.500000	0.49745	GAT		0.552	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356		9	72	1	0	1.77e-08	2e-08	9	72				
LCK	3932	broad.mit.edu	37	1	32745441	32745441	+	Splice_Site	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:32745441G>A	ENST00000336890.5	+	11	1179		c.e11-1		LCK_ENST00000333070.4_Splice_Site|LCK_ENST00000373564.3_Splice_Site	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	TTGGCCTGCAGATTGCAGAAG	0.542			T	TRB@	T-ALL																																	uc001bux.2		NA		Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		0				lung(3)|central_nervous_system(2)|ovary(1)	6						c.e11-1		lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)						137.0	131.0	133.0					1																	32745441		2203	4300	6503	SO:0001630	splice_region_variant	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32745441G>A	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.1042-1G>A	1.37:g.32745441G>A						LCK_uc001buy.2_Splice_Site_p.I348_splice|LCK_uc001buz.2_Splice_Site_p.I378_splice|LCK_uc010ohc.1_Splice_Site_p.I392_splice|LCK_uc001bva.2_Splice_Site_p.I355_splice	p.I348_splice	NM_005356	NP_005347	P06239	LCK_HUMAN			11	1180	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)						D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Splice_Site	SNP	ENST00000336890.5	37	c.1042_splice	CCDS359.1	.	.	.	.	.	.	.	.	.	.	.	19.42	3.824093	0.71143	.	.	ENSG00000182866	ENST00000336890;ENST00000398345;ENST00000495610;ENST00000333070;ENST00000436824;ENST00000373564	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5276	0.90978	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LCK	32518028	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	9.622000	0.98378	2.792000	0.96026	0.555000	0.69702	.		0.542	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356	Intron	20	142	0	0	0	0	20	142				
PTPRF	5792	broad.mit.edu	37	1	44058140	44058140	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:44058140T>C	ENST00000359947.4	+	11	2021	c.1681T>C	c.(1681-1683)Ttc>Ctc	p.F561L	PTPRF_ENST00000422171.2_Missense_Mutation_p.F20L|PTPRF_ENST00000372414.3_Missense_Mutation_p.F561L|PTPRF_ENST00000438120.1_Missense_Mutation_p.F561L|PTPRF_ENST00000372413.3_Missense_Mutation_p.F561L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	561	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.F551L(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAAGGTGACCTTCGACCCAAC	0.572																																						uc001cjr.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10						c.(1681-1683)TTC>CTC		protein tyrosine phosphatase, receptor type, F							183.0	152.0	163.0					1																	44058140		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44058140T>C	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.1681T>C	1.37:g.44058140T>C	ENSP00000353030:p.Phe561Leu					PTPRF_uc001cjs.2_Missense_Mutation_p.F561L|PTPRF_uc001cju.2_Missense_Mutation_p.F132L|PTPRF_uc009vwt.2_Missense_Mutation_p.F132L|PTPRF_uc001cjv.2_Missense_Mutation_p.F132L	p.F561L	NM_002840	NP_002831	P10586	PTPRF_HUMAN			11	2021	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	561			Extracellular (Potential).|Fibronectin type-III 3.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.1681T>C	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.76|11.76	1.734452|1.734452	0.30774|0.30774	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171|ENST00000412568;ENST00000414879	T;T;T;T;T|.	0.56444|.	0.46;0.46;0.46;0.46;0.46|.	4.78|4.78	4.78|4.78	0.61160|0.61160	Fibronectin, type III (4);Immunoglobulin-like fold (1);|.	0.000000|.	0.35936|.	N|.	0.002893|.	T|T	0.34890|0.34890	0.0913|0.0913	N|N	0.20574|0.20574	0.59|0.59	0.18873|0.18873	N|N	0.999984|0.999984	B;B;B;D;B|.	0.63880|.	0.01;0.0;0.001;0.993;0.071|.	B;B;B;D;B|.	0.73708|.	0.029;0.002;0.003;0.981;0.107|.	T|T	0.23726|0.23726	-1.0180|-1.0180	10|5	0.25106|.	T|.	0.35|.	.|.	14.6212|14.6212	0.68584|0.68584	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	217;20;320;561;561|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	L|P	561;561;561;561;20|228;85	ENSP00000353030:F561L;ENSP00000398822:F561L;ENSP00000361491:F561L;ENSP00000361490:F561L;ENSP00000387885:F20L|.	ENSP00000353030:F561L|.	F|L	+|+	1|2	0|0	PTPRF|PTPRF	43830727|43830727	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	4.811000|4.811000	0.62606|0.62606	1.914000|1.914000	0.55421|0.55421	0.459000|0.459000	0.35465|0.35465	TTC|CTT		0.572	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			50	164	0	0	0	0	50	164				
ST6GALNAC5	81849	broad.mit.edu	37	1	77510090	77510090	+	Missense_Mutation	SNP	A	A	G	rs34735755		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:77510090A>G	ENST00000477717.1	+	3	698	c.463A>G	c.(463-465)Aac>Gac	p.N155D		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	155					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GATCCTCCGCAACCGCCATGA	0.637																																						uc001dhi.2		NA																	0				pancreas(1)|skin(1)	2						c.(463-465)AAC>GAC		sialyltransferase 7E							66.0	56.0	60.0					1																	77510090		2203	4300	6503	SO:0001583	missense	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77510090A>G		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.463A>G	1.37:g.77510090A>G	ENSP00000417583:p.Asn155Asp					ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA	p.N155D	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN			3	638	+			155			Lumenal (Potential).		B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	c.463A>G	CCDS673.1	.	.	.	.	.	.	.	.	.	.	A	17.91	3.503432	0.64298	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.29397	1.57	5.72	4.53	0.55603	.	0.253175	0.51477	D	0.000100	T	0.11367	0.0277	L	0.31845	0.965	0.46725	D	0.999174	B	0.06786	0.001	B	0.12837	0.008	T	0.05954	-1.0854	10	0.22706	T	0.39	-10.8119	12.5541	0.56244	0.8613:0.1387:0.0:0.0	.	155	Q9BVH7	SIA7E_HUMAN	D	155;65	ENSP00000417583:N155D	ENSP00000436263:N155D	N	+	1	0	ST6GALNAC5	77282678	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.268000	0.78473	2.175000	0.68902	0.533000	0.62120	AAC		0.637	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		15	58	0	0	0	0	15	58				
BCAR3	8412	broad.mit.edu	37	1	94037258	94037258	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:94037258G>C	ENST00000370244.1	-	11	2231	c.1943C>G	c.(1942-1944)tCa>tGa	p.S648*	BCAR3_ENST00000370247.3_Nonsense_Mutation_p.S557*|BCAR3_ENST00000370243.1_Nonsense_Mutation_p.S648*|BCAR3_ENST00000539242.1_Nonsense_Mutation_p.S324*|BCAR3_ENST00000260502.6_Nonsense_Mutation_p.S648*	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	648	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CATGAGAGCTGAGAAGGAATA	0.478																																						uc001dpz.2		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1942-1944)TCA>TGA		breast cancer antiestrogen resistance 3							87.0	86.0	86.0					1																	94037258		2203	4300	6503	SO:0001587	stop_gained	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94037258G>C	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1943C>G	1.37:g.94037258G>C	ENSP00000359264:p.Ser648*					BCAR3_uc001dqa.2_Nonsense_Mutation_p.S648*|BCAR3_uc001dqb.2_Nonsense_Mutation_p.S648*|BCAR3_uc001dpx.3_Nonsense_Mutation_p.S324*|BCAR3_uc001dpy.2_Nonsense_Mutation_p.S557*|BCAR3_uc009wdm.1_Nonsense_Mutation_p.S324*	p.S648*	NM_003567	NP_003558	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	9	2218	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	648			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Nonsense_Mutation	SNP	ENST00000370244.1	37	c.1943C>G	CCDS745.1	.	.	.	.	.	.	.	.	.	.	G	42	9.500948	0.99189	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	.	.	.	5.73	5.73	0.89815	.	0.055390	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-15.4454	19.9065	0.97010	0.0:0.0:1.0:0.0	.	.	.	.	X	557;648;648;648;324	.	ENSP00000260502:S648X	S	-	2	0	BCAR3	93809846	1.000000	0.71417	0.975000	0.42487	0.985000	0.73830	9.471000	0.97696	2.696000	0.92011	0.655000	0.94253	TCA		0.478	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			25	128	0	0	0	0	25	128				
OLFM3	118427	broad.mit.edu	37	1	102270141	102270141	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:102270141G>A	ENST00000338858.5	-	6	1089	c.1090C>T	c.(1090-1092)Cag>Tag	p.Q364*	OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000370103.4_Nonsense_Mutation_p.Q344*|OLFM3_ENST00000536598.1_3'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3	364	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CCTGCATTCTGGTTAGTTGCA	0.483																																						uc001duf.2		NA																	0				ovary(2)|skin(1)	3						c.(1090-1092)CAG>TAG		olfactomedin 3							97.0	82.0	87.0					1																	102270141		2203	4300	6503	SO:0001587	stop_gained	118427					extracellular region		g.chr1:102270141G>A	AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.1090C>T	1.37:g.102270141G>A	ENSP00000345192:p.Gln364*					OLFM3_uc001dug.2_Nonsense_Mutation_p.Q344*|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Nonsense_Mutation_p.Q269*|OLFM3_uc001due.2_RNA	p.Q364*	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)	6	1161	-		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)	364			Olfactomedin-like.		Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	Nonsense_Mutation	SNP	ENST00000338858.5	37	c.1090C>T		.	.	.	.	.	.	.	.	.	.	G	33	5.225594	0.95173	.	.	ENSG00000118733	ENST00000370103;ENST00000338858	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.7477	0.96257	0.0:0.0:1.0:0.0	.	.	.	.	X	344;364	.	ENSP00000345192:Q364X	Q	-	1	0	OLFM3	102042729	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.912000	0.87465	2.671000	0.90904	0.650000	0.86243	CAG		0.483	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000030142.1			11	68	0	0	0	0	11	68				
WDR47	22911	broad.mit.edu	37	1	109554265	109554265	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:109554265T>C	ENST00000369962.3	-	5	625	c.403A>G	c.(403-405)Agt>Ggt	p.S135G	WDR47_ENST00000357672.3_Missense_Mutation_p.S107G|WDR47_ENST00000361054.3_Missense_Mutation_p.S107G|WDR47_ENST00000369965.4_Missense_Mutation_p.S135G|WDR47_ENST00000400794.3_Missense_Mutation_p.S142G			O94967	WDR47_HUMAN	WD repeat domain 47	135					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.S135G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CAGAGCTTACTATAGTCATCT	0.408																																						uc001dwj.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(403-405)AGT>GGT		WD repeat domain 47 isoform 3							132.0	132.0	132.0					1																	109554265		2203	4296	6499	SO:0001583	missense	22911							g.chr1:109554265T>C	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.403A>G	1.37:g.109554265T>C	ENSP00000358979:p.Ser135Gly					WDR47_uc001dwl.2_Missense_Mutation_p.S142G|WDR47_uc001dwi.2_Missense_Mutation_p.S135G|WDR47_uc001dwk.2_Missense_Mutation_p.S107G|WDR47_uc010ovf.1_Missense_Mutation_p.S62G	p.S135G	NM_001142551	NP_001136023	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	5	779	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	135					A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Missense_Mutation	SNP	ENST00000369962.3	37	c.403A>G	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	T	14.11	2.438792	0.43326	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672;ENST00000530772;ENST00000529074;ENST00000531337	T;T;T;T;T	0.59772	0.26;0.3;0.24;0.26;0.24	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.62011	0.2393	L	0.47716	1.5	0.80722	D	1	B;B;B;D	0.56035	0.004;0.012;0.009;0.974	B;B;B;D	0.70487	0.011;0.007;0.011;0.969	T	0.64041	-0.6500	10	0.46703	T	0.11	-3.0308	15.3075	0.74004	0.0:0.0:0.0:1.0	.	107;142;135;135	O94967-2;A8MX09;O94967;O94967-3	.;.;WDR47_HUMAN;.	G	142;135;107;135;107;135;62;35	ENSP00000383599:S142G;ENSP00000358979:S135G;ENSP00000354339:S107G;ENSP00000358982:S135G;ENSP00000350301:S107G	ENSP00000350301:S107G	S	-	1	0	WDR47	109355788	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	7.673000	0.83973	2.008000	0.58898	0.460000	0.39030	AGT		0.408	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		44	180	0	0	0	0	44	180				
MRPL9	65005	broad.mit.edu	37	1	151734860	151734860	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:151734860C>A	ENST00000368830.3	-	3	511	c.427G>T	c.(427-429)Gag>Tag	p.E143*	MRPL9_ENST00000368829.3_Nonsense_Mutation_p.E143*|OAZ3_ENST00000315067.8_5'Flank|RP11-98D18.15_ENST00000601684.1_RNA|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000321531.5_5'Flank|OAZ3_ENST00000453029.2_5'Flank|MRPL9_ENST00000467306.1_5'UTR|OAZ3_ENST00000479764.1_5'Flank	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	143					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACCAATTTCTCCTCTTCAAAC	0.438																																						uc001eyv.2		NA																	0				ovary(1)	1						c.(427-429)GAG>TAG		mitochondrial ribosomal protein L9 precursor							110.0	111.0	110.0					1																	151734860		2203	4300	6503	SO:0001587	stop_gained	65005				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr1:151734860C>A	AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"""Mitochondrial ribosomal proteins / large subunits"""	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.427G>T	1.37:g.151734860C>A	ENSP00000357823:p.Glu143*					MRPL9_uc009wmz.2_RNA|MRPL9_uc010pdk.1_Nonsense_Mutation_p.E143*|MRPL9_uc009wna.1_3'UTR	p.E143*	NM_031420	NP_113608	Q9BYD2	RM09_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		3	512	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		143					B2RD99|Q5SZR2|Q9BSW8	Nonsense_Mutation	SNP	ENST00000368830.3	37	c.427G>T	CCDS1003.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693207	0.88735	.	.	ENSG00000143436	ENST00000368830;ENST00000368829	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-29.5454	13.565	0.61813	0.0:1.0:0.0:0.0	.	.	.	.	X	143	.	ENSP00000357822:E143X	E	-	1	0	MRPL9	150001484	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.708000	0.68377	2.571000	0.86741	0.650000	0.86243	GAG		0.438	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036653.2	NM_031420		40	158	1	0	3.43e-23	4.09e-23	40	158				
OR10T2	128360	broad.mit.edu	37	1	158368589	158368589	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:158368589A>G	ENST00000334438.1	-	1	667	c.668T>C	c.(667-669)gTt>gCt	p.V223A		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V223A(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GATGGTGTTAACTATGAAGCC	0.473																																						uc010pih.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(667-669)GTT>GCT		olfactory receptor, family 10, subfamily T,							72.0	72.0	72.0					1																	158368589		2203	4300	6503	SO:0001583	missense	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158368589A>G	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.668T>C	1.37:g.158368589A>G	ENSP00000334115:p.Val223Ala						p.V223A	NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN			1	668	-	all_hematologic(112;0.0378)		223			Cytoplasmic (Potential).		Q6IF98	Missense_Mutation	SNP	ENST00000334438.1	37	c.668T>C	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	A	11.59	1.685039	0.29872	.	.	ENSG00000186306	ENST00000334438	T	0.00152	8.66	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.432965	0.16768	N	0.200323	T	0.00039	0.0001	N	0.20766	0.605	0.09310	N	1	B	0.17268	0.021	B	0.26693	0.072	T	0.18461	-1.0336	10	0.48119	T	0.1	.	13.0511	0.58954	1.0:0.0:0.0:0.0	.	223	Q8NGX3	O10T2_HUMAN	A	223	ENSP00000334115:V223A	ENSP00000334115:V223A	V	-	2	0	OR10T2	156635213	0.001000	0.12720	0.688000	0.30117	0.890000	0.51754	1.482000	0.35486	1.911000	0.55334	0.533000	0.62120	GTT		0.473	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		7	47	0	0	0	0	7	47				
PRRC2C	23215	broad.mit.edu	37	1	171506560	171506560	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:171506560G>C	ENST00000338920.4	+	15	2683	c.2446G>C	c.(2446-2448)Gag>Cag	p.E816Q	PRRC2C_ENST00000367742.3_Missense_Mutation_p.E818Q|PRRC2C_ENST00000392078.3_Missense_Mutation_p.E818Q|PRRC2C_ENST00000426496.2_Missense_Mutation_p.E816Q	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	816					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.E818K(2)									TCCTCATGCTGAGCCTCAACA	0.408																																						uc010pmg.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2446-2448)GAG>CAG		HBxAg transactivated protein 2							55.0	45.0	48.0					1																	171506560		2203	4299	6502	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171506560G>C	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.2446G>C	1.37:g.171506560G>C	ENSP00000343629:p.Glu816Gln					BAT2L2_uc010pmh.1_5'Flank	p.E816Q	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			15	2712	+			816					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.2446G>C	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004450	0.54254	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.05258	3.47;3.47;3.47;3.47	5.42	5.42	0.78866	.	0.000000	0.47093	D	0.000248	T	0.10423	0.0255	L	0.34521	1.04	0.54753	D	0.999984	D	0.76494	0.999	D	0.69479	0.964	T	0.25710	-1.0124	10	0.37606	T	0.19	.	19.2961	0.94122	0.0:0.0:1.0:0.0	.	816	Q9Y520-4	.	Q	818;817;816;818;816;573;575	ENSP00000375928:E818Q;ENSP00000410219:E816Q;ENSP00000356716:E818Q;ENSP00000343629:E816Q	ENSP00000343629:E816Q	E	+	1	0	PRRC2C	169773184	1.000000	0.71417	0.945000	0.38365	0.989000	0.77384	8.494000	0.90477	2.563000	0.86464	0.650000	0.86243	GAG		0.408	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		2	8	0	0	0	0	2	8				
PAPPA2	60676	broad.mit.edu	37	1	176564125	176564125	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:176564125C>T	ENST00000367662.3	+	3	2549	c.1385C>T	c.(1384-1386)cCt>cTt	p.P462L	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P462L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	462	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P462L(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGCTTTGAGCCTGTGAACACA	0.542																																						uc001gkz.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1384-1386)CCT>CTT		pappalysin 2 isoform 1							91.0	97.0	95.0					1																	176564125		2091	4214	6305	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564125C>T	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1385C>T	1.37:g.176564125C>T	ENSP00000356634:p.Pro462Leu					PAPPA2_uc001gky.1_Missense_Mutation_p.P462L|PAPPA2_uc009www.2_RNA	p.P462L	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2549	+			462			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1385C>T	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	1.973	-0.436116	0.04636	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.30714	4.74;1.52	5.08	3.21	0.36854	.	0.513185	0.21046	N	0.081094	T	0.27063	0.0663	L	0.60455	1.87	0.09310	N	0.999999	B;B	0.16802	0.002;0.019	B;B	0.12837	0.003;0.008	T	0.20371	-1.0277	10	0.41790	T	0.15	-4.2525	6.7825	0.23654	0.1425:0.7058:0.0:0.1516	.	462;462	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	L	462	ENSP00000356634:P462L;ENSP00000356633:P462L	ENSP00000356633:P462L	P	+	2	0	PAPPA2	174830748	0.000000	0.05858	0.026000	0.17262	0.015000	0.08874	0.298000	0.19120	0.544000	0.28883	0.650000	0.86243	CCT		0.542	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			24	111	0	0	0	0	24	111				
HMCN1	83872	broad.mit.edu	37	1	186039757	186039757	+	Silent	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:186039757C>T	ENST00000271588.4	+	52	8236	c.8007C>T	c.(8005-8007)atC>atT	p.I2669I	HMCN1_ENST00000367492.2_Silent_p.I2669I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2669	Ig-like C2-type 25.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.I2669I(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACCCATAATCAATAAAGGGG	0.373																																						uc001grq.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(22)|skin(1)	23						c.(8005-8007)ATC>ATT		hemicentin 1 precursor							79.0	89.0	86.0					1																	186039757		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186039757C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8007C>T	1.37:g.186039757C>T							p.I2669I	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			52	8236	+			2669			Ig-like C2-type 25.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.8007C>T	CCDS30956.1																																																																																				0.373	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		25	110	0	0	0	0	25	110				
KDM5B	10765	broad.mit.edu	37	1	202724420	202724420	+	Missense_Mutation	SNP	T	T	A	rs539014191		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:202724420T>A	ENST00000367265.3	-	11	2681	c.1517A>T	c.(1516-1518)tAt>tTt	p.Y506F	KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Missense_Mutation_p.Y542F	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	506	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Y506F(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GTTAATTGAATAGCTCCAGTG	0.403																																						uc001gyf.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)|breast(2)|urinary_tract(1)	5						c.(1516-1518)TAT>TTT		jumonji, AT rich interactive domain 1B							109.0	110.0	109.0					1																	202724420		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202724420T>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1517A>T	1.37:g.202724420T>A	ENSP00000356234:p.Tyr506Phe					KDM5B_uc009xag.2_Missense_Mutation_p.Y542F|KDM5B_uc001gyg.1_Missense_Mutation_p.Y348F	p.Y506F	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			11	1633	-			506			JmjC.		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.1517A>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	T	35	5.521561	0.96416	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.72942	-0.7;-0.7;-0.7	5.73	5.73	0.89815	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.84392	0.5462	M	0.79475	2.455	0.80722	D	1	P;D	0.89917	0.86;1.0	B;D	0.91635	0.315;0.999	D	0.86319	0.1691	10	0.72032	D	0.01	-19.7478	16.0233	0.80516	0.0:0.0:0.0:1.0	.	542;506	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	F	506;348;542;348	ENSP00000356234:Y506F;ENSP00000356233:Y542F;ENSP00000235790:Y348F	ENSP00000235790:Y348F	Y	-	2	0	KDM5B	200991043	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.186000	0.69663	0.533000	0.62120	TAT		0.403	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		32	92	0	0	0	0	32	92				
TLR5	7100	broad.mit.edu	37	1	223284063	223284063	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:223284063C>T	ENST00000540964.1	-	4	2772	c.2311G>A	c.(2311-2313)Gcc>Acc	p.A771T	TLR5_ENST00000342210.6_Missense_Mutation_p.A771T			O60602	TLR5_HUMAN	toll-like receptor 5	771	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)	p.A771T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TAACTGAAGGCTTCAAGGCAC	0.483																																						uc001hnv.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)|lung(1)|skin(1)	4						c.(2311-2313)GCC>ACC		toll-like receptor 5 precursor							105.0	91.0	96.0					1																	223284063		2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223284063C>T		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.2311G>A	1.37:g.223284063C>T	ENSP00000440643:p.Ala771Thr					TLR5_uc001hnw.1_Missense_Mutation_p.A771T	p.A771T	NM_003268	NP_003259	O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	2757	-			771		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).	Cytoplasmic (Potential).|TIR.		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.2311G>A	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520952	0.85495	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.08193	3.12;3.12;3.12	5.72	5.72	0.89469	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.85682	D	0.000000	T	0.30355	0.0762	M	0.72894	2.215	0.49582	D	0.999802	D	0.65815	0.995	D	0.70935	0.971	T	0.00242	-1.1885	10	0.49607	T	0.09	.	19.8718	0.96853	0.0:1.0:0.0:0.0	.	771	O60602	TLR5_HUMAN	T	771	ENSP00000440643:A771T;ENSP00000355846:A771T;ENSP00000340089:A771T	ENSP00000340089:A771T	A	-	1	0	TLR5	221350686	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.831000	0.48144	2.688000	0.91661	0.585000	0.79938	GCC		0.483	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		11	45	0	0	0	0	11	45				
EXOC8	149371	broad.mit.edu	37	1	231472440	231472440	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:231472440C>T	ENST00000360394.2	-	1	1138	c.1052G>A	c.(1051-1053)aGa>aAa	p.R351K	SPRTN_ENST00000008440.9_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.R347K|SPRTN_ENST00000391858.4_5'Flank|SPRTN_ENST00000295050.7_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	351					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TTCAAAGTCTCTCTGCGCAAT	0.498																																						uc001huq.2		NA																	0				skin(1)	1						c.(1051-1053)AGA>AAA		exocyst complex 84-kDa subunit							104.0	102.0	102.0					1																	231472440		2203	4300	6503	SO:0001583	missense	149371				exocytosis|protein transport	growth cone|nucleus	protein binding	g.chr1:231472440C>T	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1052G>A	1.37:g.231472440C>T	ENSP00000353564:p.Arg351Lys						p.R351K	NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN			1	1139	-	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	351					B3KU33|Q5TE82	Missense_Mutation	SNP	ENST00000360394.2	37	c.1052G>A	CCDS1593.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837158	0.91117	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	D;D	0.85484	-1.99;-1.98	5.68	5.68	0.88126	Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.92645	0.7663	M	0.83953	2.67	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	D	0.91413	0.5152	10	0.38643	T	0.18	-25.5165	19.796	0.96484	0.0:1.0:0.0:0.0	.	351	Q8IYI6	EXOC8_HUMAN	K	351;347	ENSP00000353564:R351K;ENSP00000355605:R347K	ENSP00000353564:R351K	R	-	2	0	EXOC8	229539063	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.772000	0.85439	2.659000	0.90383	0.655000	0.94253	AGA		0.498	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		28	132	0	0	0	0	28	132				
FMN2	56776	broad.mit.edu	37	1	240493979	240493979	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:240493979A>T	ENST00000319653.9	+	11	4744	c.4514A>T	c.(4513-4515)aAt>aTt	p.N1505I	FMN2_ENST00000545751.1_Missense_Mutation_p.N101I	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1505	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.N1648I(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AATGGAGGAAATAAGACTCGA	0.403																																						uc010pyd.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(4513-4515)AAT>ATT		formin 2							144.0	136.0	138.0					1																	240493979		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240493979A>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4514A>T	1.37:g.240493979A>T	ENSP00000318884:p.Asn1505Ile					FMN2_uc010pye.1_Missense_Mutation_p.N1509I|FMN2_uc010pyf.1_Missense_Mutation_p.N151I|FMN2_uc010pyg.1_Missense_Mutation_p.N101I	p.N1505I	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		11	4739	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1505			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.4514A>T	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	A	33	5.219249	0.95139	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355	T;T	0.19105	2.17;2.17	5.99	5.99	0.97316	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000002	T	0.53738	0.1815	M	0.87097	2.86	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.995;0.995;1.0	T	0.61451	-0.7060	10	0.87932	D	0	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	101;151;134;1505	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	I	1505;101;132	ENSP00000318884:N1505I;ENSP00000437918:N101I	ENSP00000318884:N1505I	N	+	2	0	FMN2	238560602	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.466000	0.80914	2.291000	0.77112	0.533000	0.62120	AAT		0.403	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		29	93	0	0	0	0	29	93				
NMT2	9397	broad.mit.edu	37	10	15175327	15175327	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr10:15175327C>G	ENST00000378165.4	-	4	507	c.427G>C	c.(427-429)Gat>Cat	p.D143H	NMT2_ENST00000540259.1_5'UTR|NMT2_ENST00000535341.1_Missense_Mutation_p.D130H|NMT2_ENST00000378150.1_Missense_Mutation_p.D130H|RPP38_ENST00000451677.1_Intron	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	143					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)	p.D143H(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TTGTCTTTATCTGGTTCAATT	0.398																																					Melanoma(117;1345 1645 4130 12688 30625)	uc001inz.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(427-429)GAT>CAT		N-myristoyltransferase 2							168.0	163.0	165.0					10																	15175327		2203	4300	6503	SO:0001583	missense	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15175327C>G	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.427G>C	10.37:g.15175327C>G	ENSP00000367407:p.Asp143His					NMT2_uc001ioa.1_Missense_Mutation_p.D130H|NMT2_uc009xjo.1_Missense_Mutation_p.D143H|NMT2_uc010qbz.1_5'UTR	p.D143H	NM_004808	NP_004799	O60551	NMT2_HUMAN			4	511	-			143					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	c.427G>C	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	C	33	5.200340	0.94997	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000535341	T	0.47177	0.85	5.81	5.81	0.92471	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, N-terminal (1);	0.086043	0.85682	D	0.000000	T	0.73636	0.3612	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.71184	0.972;0.952;0.972	T	0.76399	-0.2973	10	0.66056	D	0.02	-30.0052	20.0726	0.97729	0.0:1.0:0.0:0.0	.	143;130;143	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	H	143;130;174;130	ENSP00000367407:D143H	ENSP00000367385:D174H	D	-	1	0	NMT2	15215333	1.000000	0.71417	0.510000	0.27712	0.957000	0.61999	7.818000	0.86416	2.738000	0.93877	0.655000	0.94253	GAT		0.398	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		24	109	0	0	0	0	24	109				
PCDH15	65217	broad.mit.edu	37	10	55591229	55591229	+	Missense_Mutation	SNP	G	G	A	rs138398244		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr10:55591229G>A	ENST00000320301.6	-	30	4442	c.4048C>T	c.(4048-4050)Cgc>Tgc	p.R1350C	PCDH15_ENST00000361849.3_Missense_Mutation_p.R1350C|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1279C|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1328C|PCDH15_ENST00000373965.2_Missense_Mutation_p.R1357C|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1313C|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1355C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1350C|PCDH15_ENST00000409834.1_Missense_Mutation_p.R961C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1350C|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1357C	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1350					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.R1355C(2)|p.R1350C(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCAGAATGCGTCCTCCTTCC	0.413										HNSCC(58;0.16)			G|||	1	0.000199681	0.0	0.0	5008	,	,		16626	0.001		0.0	False		,,,				2504	0.0					uc001jju.1		NA																	3	Substitution - Missense(3)		upper_aerodigestive_tract(3)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4048-4050)CGC>TGC		protocadherin 15 isoform CD1-4 precursor							168.0	149.0	155.0					10																	55591229		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55591229G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4048C>T	10.37:g.55591229G>A	ENSP00000322604:p.Arg1350Cys	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.R1355C|PCDH15_uc010qhr.1_Missense_Mutation_p.R1350C|PCDH15_uc010qhs.1_Missense_Mutation_p.R1362C|PCDH15_uc010qht.1_Missense_Mutation_p.R1357C|PCDH15_uc010qhu.1_Missense_Mutation_p.R1350C|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R1350C|PCDH15_uc010qhw.1_Missense_Mutation_p.R1313C|PCDH15_uc010qhx.1_Missense_Mutation_p.R1279C|PCDH15_uc010qhy.1_Missense_Mutation_p.R1355C|PCDH15_uc010qhz.1_Missense_Mutation_p.R1350C|PCDH15_uc010qia.1_Missense_Mutation_p.R1328C|PCDH15_uc010qib.1_Missense_Mutation_p.R1328C	p.R1350C	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			30	4443	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1350			Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4048C>T	CCDS7248.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.58	3.854860	0.71719	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.60424	0.34;0.4;0.32;0.33;0.29;0.24;0.19;0.26;0.2;0.21;0.2	5.75	3.87	0.44632	.	.	.	.	.	T	0.64962	0.2646	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;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;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.999;0.999;0.998;0.999;0.999;0.998;0.999;0.999;0.999;0.999;0.999;0.999	T	0.65647	-0.6117	9	0.87932	D	0	.	10.5113	0.44864	0.0698:0.0:0.7964:0.1339	.	1328;1350;1350;1355;1279;1313;1350;1350;1357;1357;1350;1355;1350	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	C	1357;1355;1350;1350;961;1357;1313;1350;1328;1350;1350;1355;1279	ENSP00000363076:R1357C;ENSP00000410304:R1355C;ENSP00000378826:R1350C;ENSP00000386693:R961C;ENSP00000378832:R1357C;ENSP00000378820:R1313C;ENSP00000354950:R1350C;ENSP00000378821:R1328C;ENSP00000322604:R1350C;ENSP00000378818:R1350C;ENSP00000412628:R1279C	ENSP00000322604:R1350C	R	-	1	0	PCDH15	55261235	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	6.597000	0.74118	0.744000	0.32741	-0.237000	0.12165	CGC		0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		22	92	0	0	0	0	22	92				
TNKS2	80351	broad.mit.edu	37	10	93586790	93586790	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr10:93586790A>G	ENST00000371627.4	+	8	1191	c.812A>G	c.(811-813)aAt>aGt	p.N271S		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	271					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCCTGTGTAAATGCAATGGAC	0.368																																						uc001khp.2		NA																	0				kidney(3)|skin(3)|ovary(1)|lung(1)	8						c.(811-813)AAT>AGT		tankyrase, TRF1-interacting ankyrin-related							138.0	126.0	130.0					10																	93586790		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93586790A>G	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.812A>G	10.37:g.93586790A>G	ENSP00000360689:p.Asn271Ser						p.N271S	NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN			8	1109	+		Colorectal(252;0.162)	271			ANK 5.		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.812A>G	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.399750	0.83120	.	.	ENSG00000107854	ENST00000371627	T	0.71222	-0.55	5.77	5.77	0.91146	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000012	T	0.79009	0.4374	M	0.64404	1.975	0.58432	D	0.999994	D	0.53619	0.961	P	0.55112	0.769	T	0.80955	-0.1151	10	0.66056	D	0.02	.	16.3948	0.83586	1.0:0.0:0.0:0.0	.	271	Q9H2K2	TNKS2_HUMAN	S	271	ENSP00000360689:N271S	ENSP00000360689:N271S	N	+	2	0	TNKS2	93576770	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.255000	0.95524	2.326000	0.78906	0.533000	0.62120	AAT		0.368	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		15	81	0	0	0	0	15	81				
RNH1	6050	broad.mit.edu	37	11	494726	494726	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:494726C>G	ENST00000534797.1	-	9	2758	c.1351G>C	c.(1351-1353)Gag>Cag	p.E451Q	RNH1_ENST00000356187.5_Missense_Mutation_p.E451Q|RNH1_ENST00000438658.2_Missense_Mutation_p.E451Q|RNH1_ENST00000397604.3_Missense_Mutation_p.E451Q|RNH1_ENST00000397614.1_Missense_Mutation_p.E451Q|RNH1_ENST00000354420.2_Missense_Mutation_p.E451Q|RNH1_ENST00000397615.2_Missense_Mutation_p.E451Q|RNH1_ENST00000533410.1_Missense_Mutation_p.E451Q			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)	p.E451Q(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGTCCTTCTCCAGGGCCTGC	0.657																																						uc001lpk.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(1351-1353)GAG>CAG		ribonuclease/angiogenin inhibitor							135.0	110.0	118.0					11																	494726		2203	4300	6503	SO:0001583	missense	6050				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity	g.chr11:494726C>G		CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"""ribonuclease/angiogenin inhibitor"""	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.1351G>C	11.37:g.494726C>G	ENSP00000433999:p.Glu451Gln					RNH1_uc001lpl.1_Missense_Mutation_p.E451Q|RNH1_uc001lpm.1_Missense_Mutation_p.E451Q|RNH1_uc001lpn.1_Missense_Mutation_p.E451Q|RNH1_uc001lpo.1_Missense_Mutation_p.E451Q|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Missense_Mutation_p.E451Q|RNH1_uc001lpt.1_Missense_Mutation_p.E208Q|RNH1_uc001lpq.1_Missense_Mutation_p.E451Q|RNH1_uc001lpr.1_Missense_Mutation_p.E451Q|RNH1_uc001lps.1_Missense_Mutation_p.E451Q	p.E451Q	NM_203389	NP_976323	P13489	RINI_HUMAN		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)	9	2759	-		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	451					B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Missense_Mutation	SNP	ENST00000534797.1	37	c.1351G>C	CCDS7697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.46|16.46	3.128316|3.128316	0.56721|0.56721	.|.	.|.	ENSG00000023191|ENSG00000023191	ENST00000534797;ENST00000397614;ENST00000397615;ENST00000397604;ENST00000533410;ENST00000438658;ENST00000354420;ENST00000356187|ENST00000529768	T;T;T;T;T;T;T;T|T	0.54279|0.43688	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58|0.94	3.71|3.71	2.79|2.79	0.32731|0.32731	.|.	0.277746|.	0.24492|.	N|.	0.038043|.	T|T	0.40297|0.40297	0.1111|0.1111	L|L	0.36672|0.36672	1.1|1.1	0.38446|0.38446	D|D	0.94683|0.94683	P|.	0.52692|.	0.955|.	B|.	0.41666|.	0.363|.	T|T	0.40683|0.40683	-0.9550|-0.9550	10|7	0.33940|0.54805	T|T	0.23|0.06	.|.	8.9762|8.9762	0.35937|0.35937	0.0:0.891:0.0:0.109|0.0:0.891:0.0:0.109	.|.	451|.	P13489|.	RINI_HUMAN|.	Q|C	451|279	ENSP00000433999:E451Q;ENSP00000380738:E451Q;ENSP00000380739:E451Q;ENSP00000380729:E451Q;ENSP00000435594:E451Q;ENSP00000416589:E451Q;ENSP00000346402:E451Q;ENSP00000348515:E451Q|ENSP00000432170:W279C	ENSP00000346402:E451Q|ENSP00000432170:W279C	E|W	-|-	1|3	0|0	RNH1|RNH1	484726|484726	0.992000|0.992000	0.36948|0.36948	0.320000|0.320000	0.25306|0.25306	0.043000|0.043000	0.13939|0.13939	4.900000|4.900000	0.63252|0.63252	1.160000|1.160000	0.42584|0.42584	-0.142000|-0.142000	0.14014|0.14014	GAG|TGG		0.657	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384301.1	NM_203389		21	131	0	0	0	0	21	131				
KCNA4	3739	broad.mit.edu	37	11	30032400	30032400	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:30032400G>A	ENST00000328224.6	-	2	3059	c.1826C>T	c.(1825-1827)tCa>tTa	p.S609L	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	609					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.S609L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TAGATACTCTGACTTGTCCCC	0.463																																						uc001msk.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1825-1827)TCA>TTA		potassium voltage-gated channel, shaker-related							99.0	96.0	97.0					11																	30032400		1884	4120	6004	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30032400G>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1826C>T	11.37:g.30032400G>A	ENSP00000328511:p.Ser609Leu						p.S609L	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	2978	-			609						Missense_Mutation	SNP	ENST00000328224.6	37	c.1826C>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268893	0.59540	.	.	ENSG00000182255	ENST00000328224	D	0.97041	-4.22	5.7	5.7	0.88788	.	0.294919	0.27778	N	0.017887	D	0.96806	0.8957	M	0.77406	2.37	0.80722	D	1	B	0.17852	0.024	B	0.19391	0.025	D	0.94171	0.7423	10	0.72032	D	0.01	.	19.8411	0.96685	0.0:0.0:1.0:0.0	.	609	P22459	KCNA4_HUMAN	L	609	ENSP00000328511:S609L	ENSP00000328511:S609L	S	-	2	0	KCNA4	29988976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.939000	0.87685	2.683000	0.91414	0.655000	0.94253	TCA		0.463	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		18	82	0	0	0	0	18	82				
KBTBD4	55709	broad.mit.edu	37	11	47594881	47594881	+	Silent	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:47594881C>T	ENST00000526005.1	-	4	1311	c.1158G>A	c.(1156-1158)gaG>gaA	p.E386E	PTPMT1_ENST00000527079.2_3'UTR|KBTBD4_ENST00000430070.2_Silent_p.E402E|KBTBD4_ENST00000395288.2_Silent_p.E386E|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000533290.1_Silent_p.E411E			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	386								p.E386E(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						GATCATTCTCCTCCCCCCCTA	0.512																																						uc001nfx.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1156-1158)GAG>GAA		kelch repeat and BTB (POZ) domain containing 4							143.0	130.0	135.0					11																	47594881		2201	4298	6499	SO:0001819	synonymous_variant	55709							g.chr11:47594881C>T	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.1158G>A	11.37:g.47594881C>T						PTPMT1_uc001nfs.3_3'UTR|PTPMT1_uc001nfv.3_3'UTR|PTPMT1_uc009ylt.2_3'UTR|PTPMT1_uc001nfu.3_3'UTR|NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.1_Silent_p.E411E|KBTBD4_uc001nfz.2_Silent_p.E402E|KBTBD4_uc001nfy.2_Silent_p.E386E	p.E386E	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN			4	1329	-			386			Kelch 4.		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Silent	SNP	ENST00000526005.1	37	c.1158G>A	CCDS7940.1																																																																																				0.512	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		27	94	0	0	0	0	27	94				
OR5L1	219437	broad.mit.edu	37	11	55579185	55579185	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:55579185G>T	ENST00000333973.2	+	1	332	c.243G>T	c.(241-243)atG>atT	p.M81I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M81I(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGCCAAAAATGTTGGCTAATA	0.458																																						uc001nhw.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	skin(3)|ovary(2)	5						c.(241-243)ATG>ATT		olfactory receptor, family 5, subfamily L,							235.0	216.0	222.0					11																	55579185		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579185G>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.243G>T	11.37:g.55579185G>T	ENSP00000335529:p.Met81Ile						p.M81I	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	243	+		all_epithelial(135;0.208)	81			Extracellular (Potential).		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.243G>T	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	10.52	1.374351	0.24857	.	.	ENSG00000186117	ENST00000333973	T	0.05513	3.43	4.32	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.328207	0.26700	N	0.022942	T	0.05364	0.0142	L	0.43701	1.375	0.09310	N	1	B	0.20368	0.044	B	0.19666	0.026	T	0.34054	-0.9844	10	0.72032	D	0.01	-28.106	2.3007	0.04162	0.0992:0.1676:0.3891:0.3442	.	81	Q8NGL2	OR5L1_HUMAN	I	81	ENSP00000335529:M81I	ENSP00000335529:M81I	M	+	3	0	OR5L1	55335761	0.007000	0.16637	0.005000	0.12908	0.034000	0.12701	0.633000	0.24598	0.778000	0.33520	0.435000	0.28638	ATG		0.458	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		64	246	1	0	1.69e-38	2.03e-38	64	246				
OR8J1	219477	broad.mit.edu	37	11	56127847	56127847	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:56127847A>T	ENST00000303039.3	+	1	157	c.125A>T	c.(124-126)aAc>aTc	p.N42I		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N42I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ATGGCAGGGAACCTGGGCATC	0.493																																						uc010rjh.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(124-126)AAC>ATC		olfactory receptor, family 8, subfamily J,							147.0	136.0	140.0					11																	56127847		2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56127847A>T	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.125A>T	11.37:g.56127847A>T	ENSP00000304060:p.Asn42Ile						p.N42I	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	125	+	Esophageal squamous(21;0.00448)		42			Helical; Name=1; (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.125A>T	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.025740	0.75390	.	.	ENSG00000172487	ENST00000303039	T	0.75704	-0.96	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	D	0.91362	0.7275	H	0.98802	4.335	0.36147	D	0.847201	D	0.89917	1.0	D	0.91635	0.999	D	0.96026	0.9013	10	0.87932	D	0	.	13.0464	0.58928	1.0:0.0:0.0:0.0	.	42	Q8NGP2	OR8J1_HUMAN	I	42	ENSP00000304060:N42I	ENSP00000304060:N42I	N	+	2	0	OR8J1	55884423	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	8.562000	0.90719	1.828000	0.53243	0.523000	0.50628	AAC		0.493	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		34	132	0	0	0	0	34	132				
RARRES3	5920	broad.mit.edu	37	11	63312266	63312266	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:63312266G>A	ENST00000255688.3	+	3	340	c.292G>A	c.(292-294)Gag>Aag	p.E98K	RARRES3_ENST00000354445.2_Missense_Mutation_p.E98K|RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000439013.2_Missense_Mutation_p.E98K	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	98					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)	p.E98K(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TTCTGCGAAGGAGATGGTTGG	0.517																																						uc001nxf.3		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(292-294)GAG>AAG		retinoic acid receptor responder (tazarotene							134.0	138.0	137.0					11																	63312266		2033	4199	6232	SO:0001583	missense	5920				lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	g.chr11:63312266G>A		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.292G>A	11.37:g.63312266G>A	ENSP00000255688:p.Glu98Lys						p.E98K	NM_004585	NP_004576	Q9UL19	TIG3_HUMAN			3	360	+			98					B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP	ENST00000255688.3	37	c.292G>A	CCDS41662.1	.	.	.	.	.	.	.	.	.	.	G	9.663	1.144601	0.21288	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.21734	1.99;1.99;1.99	4.19	-8.39	0.00969	NC (1);	1.565850	0.03498	N	0.217666	T	0.12135	0.0295	N	0.21194	0.64	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.18587	-1.0332	10	0.15066	T	0.55	.	10.2541	0.43385	0.6:0.2597:0.1404:0.0	.	98	Q9UL19	TIG3_HUMAN	K	98	ENSP00000402943:E98K;ENSP00000255688:E98K;ENSP00000346431:E98K	ENSP00000255688:E98K	E	+	1	0	RARRES3	63068842	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.225000	0.00550	-2.685000	0.00406	-0.819000	0.03115	GAG		0.517	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1			51	144	0	0	0	0	51	144				
FERMT3	83706	broad.mit.edu	37	11	63990913	63990913	+	Silent	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:63990913G>A	ENST00000279227.5	+	15	2048	c.1953G>A	c.(1951-1953)gaG>gaA	p.E651E	TRPT1_ENST00000540472.1_5'Flank|NUDT22_ENST00000279206.3_5'Flank|NUDT22_ENST00000441250.2_5'Flank|FERMT3_ENST00000345728.5_Silent_p.E647E	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	651					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GTGGGGAGGAGCTGGATGAAG	0.622																																						uc001nyl.2		NA																	0				ovary(1)	1						c.(1951-1953)GAG>GAA		fermitin family homolog 3 long form							37.0	37.0	37.0					11																	63990913		2201	4297	6498	SO:0001819	synonymous_variant	83706				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	g.chr11:63990913G>A	L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.1953G>A	11.37:g.63990913G>A						FERMT3_uc001nym.2_Silent_p.E647E|NUDT22_uc009ypd.2_5'Flank|NUDT22_uc001nyp.3_5'Flank|NUDT22_uc009ype.2_5'Flank|NUDT22_uc001nyq.3_5'Flank	p.E651E	NM_178443	NP_848537	Q86UX7	URP2_HUMAN			15	2102	+			651					Q8IUA1|Q8N207|Q9BT48	Silent	SNP	ENST00000279227.5	37	c.1953G>A	CCDS8060.1																																																																																				0.622	FERMT3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396297.1	NM_031471		16	43	0	0	0	0	16	43				
SLC22A12	116085	broad.mit.edu	37	11	64366325	64366325	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:64366325C>T	ENST00000377574.1	+	6	1747	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	SLC22A12_ENST00000377572.1_Missense_Mutation_p.P226S|SLC22A12_ENST00000473690.1_Missense_Mutation_p.P113S|SLC22A12_ENST00000336464.7_Missense_Mutation_p.P300S|SLC22A12_ENST00000377567.2_Missense_Mutation_p.P226S	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	334					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	GGGCCAGCCTCCTGCCAGCCT	0.672																																						uc001oam.1		NA																	0				ovary(1)	1						c.(1000-1002)CCT>TCT		urate anion exchanger 1 isoform a							41.0	38.0	39.0					11																	64366325		2201	4295	6496	SO:0001583	missense	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64366325C>T	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.1000C>T	11.37:g.64366325C>T	ENSP00000366797:p.Pro334Ser					SLC22A12_uc009ypr.1_Missense_Mutation_p.P359S|SLC22A12_uc001oal.1_Missense_Mutation_p.P113S|SLC22A12_uc009yps.1_Missense_Mutation_p.P300S|SLC22A12_uc001oan.1_Missense_Mutation_p.P226S|SLC22A12_uc009ypt.2_Missense_Mutation_p.P152S	p.P334S	NM_144585	NP_653186	Q96S37	S22AC_HUMAN			6	1747	+			334					B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	37	c.1000C>T	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	C	0.486	-0.877613	0.02550	.	.	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000473690;ENST00000336464	T;T;T;T;T	0.59906	0.23;0.27;0.23;0.23;0.23	3.84	0.686	0.18015	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.877530	0.02591	N	0.099982	T	0.34395	0.0896	N	0.13299	0.325	0.09310	N	1	B;B;P;B	0.40834	0.258;0.134;0.73;0.134	B;B;B;B	0.38755	0.063;0.063;0.281;0.063	T	0.20605	-1.0270	10	0.07482	T	0.82	.	2.1443	0.03783	0.1916:0.4852:0.2032:0.1199	.	300;334;226;334	B5ME56;B3KV05;Q96S37-2;Q96S37	.;.;.;S22AC_HUMAN	S	226;334;226;113;300	ENSP00000366790:P226S;ENSP00000366797:P334S;ENSP00000366795:P226S;ENSP00000438437:P113S;ENSP00000336836:P300S	ENSP00000336836:P300S	P	+	1	0	SLC22A12	64122901	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	0.125000	0.15749	-0.079000	0.12707	0.455000	0.32223	CCT		0.672	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		4	71	0	0	0	0	4	71				
NAALADL1	10004	broad.mit.edu	37	11	64813578	64813578	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:64813578C>A	ENST00000358658.3	-	16	1891	c.1864G>T	c.(1864-1866)Gtg>Ttg	p.V622L	NAALADL1_ENST00000355721.3_Missense_Mutation_p.V581L|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000340252.4_Missense_Mutation_p.V673L|NAALADL1_ENST00000528884.1_5'UTR|NAALADL1_ENST00000356632.3_Missense_Mutation_p.V587L|NAALADL1_ENST00000355369.2_3'UTR|NAALADL1_ENST00000339885.2_3'UTR	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	622						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)	p.V622L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						ACTGCAGTCACCAGAGGCCCT	0.607																																						uc001ocn.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(1864-1866)GTG>TTG		N-acetylated alpha-linked acidic							55.0	52.0	53.0					11																	64813578		2201	4297	6498	SO:0001583	missense	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64813578C>A	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.1864G>T	11.37:g.64813578C>A	ENSP00000351484:p.Val622Leu					NAALADL1_uc010rnw.1_Missense_Mutation_p.V98L|NAALADL1_uc009ypz.2_RNA	p.V622L	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN			16	1880	-			622			Extracellular (Potential).		C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Missense_Mutation	SNP	ENST00000358658.3	37	c.1864G>T	CCDS31604.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.503788	0.26949	.	.	ENSG00000168060	ENST00000533753;ENST00000358658;ENST00000453486;ENST00000340252;ENST00000355721;ENST00000356632	T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4	4.98	4.03	0.46877	Transferrin receptor-like, dimerisation domain (3);	0.410438	0.26338	N	0.024950	T	0.47358	0.1441	M	0.67953	2.075	0.80722	D	1	B	0.16603	0.018	B	0.19666	0.026	T	0.37934	-0.9684	10	0.25106	T	0.35	-4.0635	8.3417	0.32247	0.0:0.8808:0.0:0.1192	.	622	Q9UQQ1	NALDL_HUMAN	L	29;622;622;673;581;587	ENSP00000434225:V29L;ENSP00000351484:V622L;ENSP00000344244:V673L;ENSP00000347955:V581L;ENSP00000349045:V587L	ENSP00000344244:V673L	V	-	1	0	NAALADL1	64570154	0.854000	0.29725	0.843000	0.33291	0.705000	0.40729	1.296000	0.33389	1.160000	0.42584	0.561000	0.74099	GTG		0.607	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		20	76	1	0	7.45e-12	8.6e-12	20	76				
MUS81	80198	broad.mit.edu	37	11	65631171	65631171	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:65631171G>C	ENST00000308110.4	+	9	1289	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	MUS81_ENST00000533035.1_Missense_Mutation_p.E239Q|EFEMP2_ENST00000532648.1_5'Flank|CFL1_ENST00000534769.1_5'Flank	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	314	ERCC4.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	intercellular bridge (GO:0045171)|nucleus (GO:0005634)	3'-flap endonuclease activity (GO:0048257)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GGTGGCCCAGGAGACCAATCC	0.657								Homologous recombination																														uc001ofv.3		NA																	0					0						c.(940-942)GAG>CAG	Homologous_recombination	MUS81 endonuclease homolog							63.0	68.0	67.0					11																	65631171		2201	4296	6497	SO:0001583	missense	80198				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	g.chr11:65631171G>C		CCDS8115.1	11q13	2013-07-03	2013-07-03			ENSG00000172732			29814	protein-coding gene	gene with protein product	"""SLX3 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	606591	"""MUS81 endonuclease homolog (yeast)"", ""MUS81 endonuclease homolog (S. cerevisiae)"""			11741546, 12374758	Standard	NM_025128		Approved	FLJ44872, SLX3	uc001ofv.4	Q96NY9		ENST00000308110.4:c.940G>C	11.37:g.65631171G>C	ENSP00000307853:p.Glu314Gln					MUS81_uc001ofw.3_RNA|MUS81_uc001ofx.3_5'UTR	p.E314Q	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	9	1293	+			314			ERCC4.		Q9H7D9	Missense_Mutation	SNP	ENST00000308110.4	37	c.940G>C	CCDS8115.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.45|19.45	3.829531|3.829531	0.71258|0.71258	.|.	.|.	ENSG00000172732|ENSG00000172732	ENST00000533035;ENST00000308110;ENST00000437855|ENST00000529374	T;T|.	0.14766|.	2.48;2.7|.	5.53|5.53	5.53|5.53	0.82687|0.82687	DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);ERCC4 domain (2);|.	0.105882|.	0.64402|.	D|.	0.000006|.	T|T	0.74921|0.74921	0.3780|0.3780	M|M	0.71296|0.71296	2.17|2.17	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79784|.	0.993|.	T|T	0.73186|0.73186	-0.4062|-0.4062	10|5	0.17369|.	T|.	0.5|.	-29.331|-29.331	16.9962|16.9962	0.86368|0.86368	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	314|.	Q96NY9|.	MUS81_HUMAN|.	Q|A	239;314;314|238	ENSP00000432287:E239Q;ENSP00000307853:E314Q|.	ENSP00000307853:E314Q|.	E|G	+|+	1|2	0|0	MUS81|MUS81	65387747|65387747	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.075000|0.075000	0.17131|0.17131	5.999000|5.999000	0.70665|0.70665	2.876000|2.876000	0.98609|0.98609	0.655000|0.655000	0.94253|0.94253	GAG|GGA		0.657	MUS81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390941.3	NM_025128		10	109	0	0	0	0	10	109				
NPAS4	266743	broad.mit.edu	37	11	66192180	66192180	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:66192180G>T	ENST00000311034.2	+	7	1995	c.1819G>T	c.(1819-1821)Gaa>Taa	p.E607*		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	607					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCTGGTGCCCGAAGGCCTGCT	0.592																																						uc001ohx.1		NA																	0					0						c.(1819-1821)GAA>TAA		neuronal PAS domain protein 4							72.0	80.0	77.0					11																	66192180		2200	4295	6495	SO:0001587	stop_gained	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192180G>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1819G>T	11.37:g.66192180G>T	ENSP00000311196:p.Glu607*					NPAS4_uc010rpc.1_Nonsense_Mutation_p.E397*	p.E607*	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			7	1995	+			607					B7ZL81|Q8N8S5|Q8N9Q9	Nonsense_Mutation	SNP	ENST00000311034.2	37	c.1819G>T	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	G	37	6.545992	0.97654	.	.	ENSG00000174576	ENST00000311034	.	.	.	4.69	4.69	0.59074	.	0.105878	0.42548	D	0.000685	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-8.5636	15.1587	0.72764	0.0:0.0:1.0:0.0	.	.	.	.	X	607	.	ENSP00000311196:E607X	E	+	1	0	NPAS4	65948756	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	8.101000	0.89546	2.443000	0.82685	0.655000	0.94253	GAA		0.592	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		20	349	1	0	2.38e-13	2.76e-13	20	349				
ATM	472	broad.mit.edu	37	11	108224518	108224518	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr11:108224518C>G	ENST00000452508.2	+	61	8886	c.8697C>G	c.(8695-8697)atC>atG	p.I2899M	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.I2899M|ATM_ENST00000525178.1_3'UTR			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2899	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AGGGCAAAATCCTTCCTACTC	0.398			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(8695-8697)ATC>ATG	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							200.0	189.0	193.0					11																	108224518		2201	4298	6499	SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108224518C>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8697C>G	11.37:g.108224518C>G	ENSP00000388058:p.Ile2899Met	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.I2899M|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.I1551M	p.I2899M	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	60	9082	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2899			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8697C>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.150457	0.57151	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.76316	-1.01;-1.01	5.42	0.744	0.18353	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.056062	0.64402	D	0.000001	T	0.77032	0.4071	L	0.31845	0.965	0.80722	D	1	D	0.67145	0.996	D	0.71414	0.973	T	0.73786	-0.3873	10	0.66056	D	0.02	.	6.12	0.20148	0.1341:0.5688:0.0:0.2971	.	2899	Q13315	ATM_HUMAN	M	2899	ENSP00000278616:I2899M;ENSP00000388058:I2899M	ENSP00000278616:I2899M	I	+	3	3	ATM	107729728	0.766000	0.28496	1.000000	0.80357	0.989000	0.77384	-0.035000	0.12205	0.229000	0.21039	-0.254000	0.11334	ATC		0.398	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		85	115	0	0	0	0	85	115				
CPNE8	144402	broad.mit.edu	37	12	39223185	39223185	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr12:39223185T>A	ENST00000331366.5	-	6	499	c.403A>T	c.(403-405)Ata>Tta	p.I135L	CPNE8_ENST00000360449.3_Missense_Mutation_p.I123L	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	135						extracellular vesicular exosome (GO:0070062)		p.I135L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				ACTTACACTATTGGTTTTTCC	0.363																																						uc001rls.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	pancreas(1)	1						c.(403-405)ATA>TTA		copine VIII							148.0	159.0	155.0					12																	39223185		2203	4300	6503	SO:0001583	missense	144402							g.chr12:39223185T>A	AY177785	CCDS8733.1	12q12	2008-02-05				ENSG00000139117			23498	protein-coding gene	gene with protein product						12670487	Standard	NM_153634		Approved		uc001rls.1	Q86YQ8	OTTHUMG00000169396	ENST00000331366.5:c.403A>T	12.37:g.39223185T>A	ENSP00000329748:p.Ile135Leu						p.I135L	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN			6	487	-	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)	135					Q2TB41|Q86VY2	Missense_Mutation	SNP	ENST00000331366.5	37	c.403A>T	CCDS8733.1	.	.	.	.	.	.	.	.	.	.	T	2.432	-0.330661	0.05314	.	.	ENSG00000139117	ENST00000331366;ENST00000360449	T;T	0.26957	1.7;1.7	3.85	3.85	0.44370	C2 calcium/lipid-binding domain, CaLB (1);	0.150814	0.41712	N	0.000834	T	0.04048	0.0113	N	0.00061	-2.33	0.33263	D	0.56002	B	0.02656	0.0	B	0.01281	0.0	T	0.28996	-1.0026	10	0.02654	T	1	.	10.841	0.46715	0.0:0.0:0.0:1.0	.	135	Q86YQ8	CPNE8_HUMAN	L	135;123	ENSP00000329748:I135L;ENSP00000353633:I123L	ENSP00000329748:I135L	I	-	1	0	CPNE8	37509452	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.007000	0.49536	1.682000	0.51000	0.460000	0.39030	ATA		0.363	CPNE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403856.1	NM_153634		46	213	0	0	0	0	46	213				
XPOT	11260	broad.mit.edu	37	12	64818445	64818445	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr12:64818445C>G	ENST00000332707.5	+	12	1778	c.1249C>G	c.(1249-1251)Caa>Gaa	p.Q417E		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	417					intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CAGGCTTGCTCAAGTTTCACC	0.373																																						uc001ssb.2		NA																	0				ovary(2)	2						c.(1249-1251)CAA>GAA		tRNA exportin							128.0	119.0	122.0					12																	64818445		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64818445C>G	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1249C>G	12.37:g.64818445C>G	ENSP00000327821:p.Gln417Glu						p.Q417E	NM_007235	NP_009166	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	12	1675	+			417					A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.1249C>G	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429147	0.62844	.	.	ENSG00000184575	ENST00000332707	T	0.64991	-0.13	5.42	5.42	0.78866	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62551	0.2437	M	0.63428	1.95	0.80722	D	1	P	0.49447	0.924	B	0.40741	0.339	T	0.64918	-0.6294	9	.	.	.	.	19.6057	0.95580	0.0:1.0:0.0:0.0	.	417	O43592	XPOT_HUMAN	E	417	ENSP00000327821:Q417E	.	Q	+	1	0	XPOT	63104712	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	7.613000	0.82986	2.732000	0.93576	0.650000	0.86243	CAA		0.373	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		20	116	0	0	0	0	20	116				
CHPT1	56994	broad.mit.edu	37	12	102091698	102091698	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr12:102091698C>T	ENST00000229266.3	+	1	294	c.59C>T	c.(58-60)cCg>cTg	p.P20L	CHPT1_ENST00000549872.1_Missense_Mutation_p.P20L|CHPT1_ENST00000550385.1_Intron	NM_020244.2	NP_064629.2	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	20					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	diacylglycerol binding (GO:0019992)|diacylglycerol cholinephosphotransferase activity (GO:0004142)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CTGAGCGAGCCGCTGAGCGCG	0.796																																						uc001tin.2		NA																	0					0						c.(58-60)CCG>CTG		choline phosphotransferase 1							3.0	4.0	4.0					12																	102091698		1848	3600	5448	SO:0001583	missense	56994				platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding	g.chr12:102091698C>T		CCDS9086.1	12q	2010-07-08				ENSG00000111666	2.7.8.2		17852	protein-coding gene	gene with protein product	"""phosphatidylcholine synthesizing enzyme"""					10893425	Standard	NM_020244		Approved	CPT1	uc001tin.3	Q8WUD6		ENST00000229266.3:c.59C>T	12.37:g.102091698C>T	ENSP00000229266:p.Pro20Leu					CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Missense_Mutation_p.P20L	p.P20L	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN			1	282	+			20					B3KQM2|Q7Z7H0|Q7Z7H1|Q7Z7H2|Q8IWQ4|Q8IWQ5|Q8WYI4|Q9NRQ6|Q9NRQ7|Q9Y6M6	Missense_Mutation	SNP	ENST00000229266.3	37	c.59C>T	CCDS9086.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.572165	0.65765	.	.	ENSG00000111666	ENST00000229266;ENST00000549872	T;T	0.39787	1.06;1.06	3.72	3.72	0.42706	.	0.060302	0.64402	D	0.000002	T	0.43656	0.1257	L	0.31526	0.94	0.58432	D	0.999999	D;P	0.57257	0.979;0.928	P;B	0.55011	0.766;0.425	T	0.24657	-1.0154	10	0.25751	T	0.34	-4.5263	15.3337	0.74234	0.0:1.0:0.0:0.0	.	20;20	F8W1B3;Q8WUD6	.;CHPT1_HUMAN	L	20	ENSP00000229266:P20L;ENSP00000448766:P20L	ENSP00000229266:P20L	P	+	2	0	CHPT1	100615829	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	5.565000	0.67365	1.900000	0.55004	0.478000	0.44815	CCG		0.796	CHPT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409173.1	NM_020244		3	6	0	0	0	0	3	6				
GNPTAB	79158	broad.mit.edu	37	12	102158435	102158435	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr12:102158435T>C	ENST00000299314.7	-	13	2522	c.2260A>G	c.(2260-2262)Ata>Gta	p.I754V	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	754	DMAP-interaction.				carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TCATCTGTTATTATAGCTTGA	0.383																																						uc001tit.2		NA																	0				ovary(1)|skin(1)	2						c.(2260-2262)ATA>GTA		N-acetylglucosamine-1-phosphate transferase							69.0	64.0	66.0					12																	102158435		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102158435T>C	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2260A>G	12.37:g.102158435T>C	ENSP00000299314:p.Ile754Val						p.I754V	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN			13	2439	-			754					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.2260A>G	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	T	3.208	-0.162283	0.06502	.	.	ENSG00000111670	ENST00000299314	T	0.42131	0.98	5.7	-2.17	0.07059	DMAP1-binding (1);	1.837250	0.02194	N	0.061674	T	0.23330	0.0564	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16867	-1.0388	10	0.02654	T	1	4.6239	4.8003	0.13294	0.2271:0.3354:0.0:0.4375	.	754	Q3T906	GNPTA_HUMAN	V	754	ENSP00000299314:I754V	ENSP00000299314:I754V	I	-	1	0	GNPTAB	100682566	0.000000	0.05858	0.000000	0.03702	0.168000	0.22595	-0.505000	0.06367	-0.380000	0.07894	-0.344000	0.07964	ATA		0.383	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			19	69	0	0	0	0	19	69				
ZCCHC8	55596	broad.mit.edu	37	12	122966496	122966496	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr12:122966496T>C	ENST00000336229.4	-	9	1001	c.871A>G	c.(871-873)Att>Gtt	p.I291V	ZCCHC8_ENST00000543897.1_Missense_Mutation_p.I53V|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.I53V	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	291					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.I291V(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TAGTACCTAATAACTCCTGGC	0.383																																						uc001ucn.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(871-873)ATT>GTT		zinc finger, CCHC domain containing 8							115.0	109.0	111.0					12																	122966496		1851	4088	5939	SO:0001583	missense	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122966496T>C	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.871A>G	12.37:g.122966496T>C	ENSP00000337313:p.Ile291Val					ZCCHC8_uc001ucm.2_Missense_Mutation_p.I53V|ZCCHC8_uc009zxp.2_Missense_Mutation_p.I53V|ZCCHC8_uc009zxq.2_Missense_Mutation_p.I53V	p.I291V	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	9	1002	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		291					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37	c.871A>G		.	.	.	.	.	.	.	.	.	.	T	24.7	4.557814	0.86231	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000544054;ENST00000536663	T;T;T	0.53640	0.64;0.64;0.61	5.63	5.63	0.86233	PSP, proline-rich (2);	0.127250	0.64402	D	0.000001	T	0.51261	0.1664	L	0.41573	1.285	0.80722	D	1	P	0.47034	0.889	P	0.50896	0.653	T	0.49041	-0.8980	10	0.42905	T	0.14	.	15.8525	0.78943	0.0:0.0:0.0:1.0	.	291	Q6NZY4	ZCHC8_HUMAN	V	53;53;291;53;53	ENSP00000441423:I53V;ENSP00000438993:I53V;ENSP00000337313:I291V	ENSP00000337313:I291V	I	-	1	0	ZCCHC8	121532449	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	4.351000	0.59398	2.142000	0.66516	0.374000	0.22700	ATT		0.383	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		8	26	0	0	0	0	8	26				
CENPJ	55835	broad.mit.edu	37	13	25458151	25458151	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr13:25458151A>C	ENST00000381884.4	-	16	3959	c.3774T>G	c.(3772-3774)gaT>gaG	p.D1258E	CENPJ_ENST00000545981.1_3'UTR|CENPJ_ENST00000493190.1_5'Flank	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1258					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTTCTTGTCCATCAGGAAATA	0.358																																						uc001upt.3		NA																	0				ovary(2)	2						c.(3772-3774)GAT>GAG		centromere protein J							173.0	163.0	167.0					13																	25458151		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25458151A>C	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3774T>G	13.37:g.25458151A>C	ENSP00000371308:p.Asp1258Glu					CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA	p.D1258E	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	16	4027	-		Lung SC(185;0.0225)|Breast(139;0.0602)	1258					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.3774T>G	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.957279	0.73902	.	.	ENSG00000151849	ENST00000381884	T	0.77489	-1.1	5.93	4.76	0.60689	.	0.138695	0.64402	D	0.000006	D	0.87962	0.6310	M	0.87971	2.92	0.80722	D	1	D	0.71674	0.998	D	0.70487	0.969	D	0.88412	0.3022	10	0.59425	D	0.04	.	10.9103	0.47106	0.926:0.0:0.074:0.0	.	1258	Q9HC77	CENPJ_HUMAN	E	1258	ENSP00000371308:D1258E	ENSP00000371308:D1258E	D	-	3	2	CENPJ	24356151	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.777000	0.55364	1.084000	0.41184	0.459000	0.35465	GAT		0.358	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		27	94	0	0	0	0	27	94				
PIBF1	10464	broad.mit.edu	37	13	73366606	73366606	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr13:73366606C>G	ENST00000326291.6	+	3	612	c.274C>G	c.(274-276)Ctt>Gtt	p.L92V		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	92						centrosome (GO:0005813)		p.L92V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GGAGGAGAAACTTAATGATGC	0.284																																						uc001vjc.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|breast(1)	2						c.(274-276)CTT>GTT		progesterone-induced blocking factor 1							56.0	61.0	60.0					13																	73366606		2203	4297	6500	SO:0001583	missense	10464					centrosome		g.chr13:73366606C>G	AF330046	CCDS31991.1	13q21.33	2014-02-20	2007-10-17	2007-10-17	ENSG00000083535	ENSG00000083535			23352	protein-coding gene	gene with protein product	"""progesterone-induced blocking factor 1"""	607532	"""chromosome 13 open reading frame 24"""	C13orf24		11935316	Standard	NM_006346		Approved	CEP90	uc001vjc.3	Q8WXW3	OTTHUMG00000017071	ENST00000326291.6:c.274C>G	13.37:g.73366606C>G	ENSP00000317144:p.Leu92Val					PIBF1_uc001vja.1_Missense_Mutation_p.L92V|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.L92V|PIBF1_uc010aep.2_Intron	p.L92V	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN		GBM - Glioblastoma multiforme(99;0.000664)	3	579	+		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)	92					O95664|Q6U9V2|Q6UG50|Q86V07|Q96SF4	Missense_Mutation	SNP	ENST00000326291.6	37	c.274C>G	CCDS31991.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407734	0.83340	.	.	ENSG00000083535	ENST00000326291;ENST00000538949	T	0.07021	3.23	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.28300	0.0699	M	0.62723	1.935	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.83275	0.996;0.996	T	0.00179	-1.1950	10	0.34782	T	0.22	-9.5363	19.6271	0.95682	0.0:1.0:0.0:0.0	.	92;92	Q8WXW3;Q4G0R1	PIBF1_HUMAN;.	V	92	ENSP00000317144:L92V	ENSP00000317144:L92V	L	+	1	0	PIBF1	72264607	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	5.500000	0.66943	2.645000	0.89757	0.591000	0.81541	CTT		0.284	PIBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045255.1	NM_006346		9	67	0	0	0	0	9	67				
DOCK9	23348	broad.mit.edu	37	13	99476724	99476724	+	Silent	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr13:99476724G>C	ENST00000376460.1	-	46	5138	c.5058C>G	c.(5056-5058)gtC>gtG	p.V1686V	DOCK9_ENST00000339416.2_Silent_p.V1687V|DOCK9_ENST00000448493.2_3'UTR	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1687	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V1687V(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTGGGGTAATGACCCTGAAGG	0.537																																						uc001vnt.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	central_nervous_system(1)	1						c.(5059-5061)GTC>GTG		dedicator of cytokinesis 9 isoform a							147.0	141.0	143.0					13																	99476724		2006	4165	6171	SO:0001819	synonymous_variant	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99476724G>C	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.5058C>G	13.37:g.99476724G>C						DOCK9_uc001vnw.2_Silent_p.V1686V|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Silent_p.V1664V|DOCK9_uc001vnq.2_Silent_p.V236V|DOCK9_uc001vnr.2_Silent_p.V330V|DOCK9_uc010tin.1_Silent_p.V307V|DOCK9_uc001vns.2_Silent_p.V236V|DOCK9_uc010tio.1_Silent_p.V356V|DOCK9_uc010tip.1_Silent_p.V397V|DOCK9_uc001vnu.1_Silent_p.V236V|DOCK9_uc010tiq.1_Silent_p.V642V	p.V1687V	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			46	5116	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		1687			DHR-2.		B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	ENST00000376460.1	37	c.5061C>G	CCDS45062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.331|9.331	1.060486|1.060486	0.19987|0.19987	.|.	.|.	ENSG00000088387|ENSG00000088387	ENST00000400228|ENST00000419908	.|.	.|.	.|.	5.43|5.43	-10.1|-10.1	0.00402|0.00402	.|.	.|.	.|.	.|.	.|.	T|.	0.56217|.	0.1970|.	.|.	.|.	.|.	0.52501|0.52501	D|D	0.999959|0.999959	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.66019|.	-0.6027|.	4|.	.|.	.|.	.|.	.|.	13.081|13.081	0.59114|0.59114	0.0657:0.1294:0.709:0.0959|0.0657:0.1294:0.709:0.0959	.|.	.|.	.|.	.|.	D|X	251|104	.|.	.|.	H|S	-|-	1|2	0|0	DOCK9|DOCK9	98274725|98274725	0.025000|0.025000	0.19082|0.19082	0.204000|0.204000	0.23530|0.23530	0.978000|0.978000	0.69477|0.69477	-0.886000|-0.886000	0.04157|0.04157	-1.631000|-1.631000	0.01543|0.01543	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.537	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		33	138	0	0	0	0	33	138				
MDGA2	161357	broad.mit.edu	37	14	47504386	47504386	+	Silent	SNP	C	C	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr14:47504386C>A	ENST00000399232.2	-	8	1804	c.1440G>T	c.(1438-1440)gcG>gcT	p.A480A	MDGA2_ENST00000426342.1_Silent_p.A251A|MDGA2_ENST00000357362.3_Silent_p.A251A|MDGA2_ENST00000439988.3_Silent_p.A549A	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	480	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.A251A(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CTTCTTTATCCGCTCTAGACC	0.413																																						uc001wwj.3		NA																	2	Substitution - coding silent(2)		upper_aerodigestive_tract(2)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1438-1440)GCG>GCT		MAM domain containing 1 isoform 1							256.0	230.0	238.0					14																	47504386		1947	4167	6114	SO:0001819	synonymous_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47504386C>A	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1440G>T	14.37:g.47504386C>A						MDGA2_uc001wwi.3_Silent_p.A251A|MDGA2_uc010ani.2_Silent_p.A40A	p.A480A	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			8	1636	-			480			Ig-like 5.		F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37	c.1440G>T																																																																																					0.413	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		55	230	1	0	6.21e-19	7.31e-19	55	230				
DLST	1743	broad.mit.edu	37	14	75367830	75367830	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr14:75367830G>A	ENST00000334220.4	+	14	1182	c.1121G>A	c.(1120-1122)gGa>gAa	p.G374E	DLST_ENST00000334212.6_Missense_Mutation_p.G288E	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	374					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)	p.G374E(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		ATTAGCAATGGAGGCGTTTTT	0.473																																						uc001xqv.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(1120-1122)GGA>GAA		dihydrolipoamide S-succinyltransferase (E2							152.0	141.0	144.0					14																	75367830		2203	4300	6503	SO:0001583	missense	1743				lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	g.chr14:75367830G>A		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.1121G>A	14.37:g.75367830G>A	ENSP00000335304:p.Gly374Glu					DLST_uc001xqu.2_Missense_Mutation_p.G286E|DLST_uc001xqt.2_Missense_Mutation_p.G290E|DLST_uc010tuw.1_Missense_Mutation_p.G288E	p.G374E	NM_001933	NP_001924	P36957	ODO2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00698)	14	1184	+			374					B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Missense_Mutation	SNP	ENST00000334220.4	37	c.1121G>A	CCDS9833.1	.	.	.	.	.	.	.	.	.	.	G	32	5.158690	0.94686	.	.	ENSG00000119689	ENST00000334220;ENST00000334212	T;T	0.42131	0.98;0.98	5.55	5.55	0.83447	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78691	0.4323	H	0.97659	4.05	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	0.86337	0.1702	10	0.87932	D	0	-14.0057	19.4978	0.95081	0.0:0.0:1.0:0.0	.	288;374;286	B7Z5W8;P36957;Q86TQ8	.;ODO2_HUMAN;.	E	374;288	ENSP00000335304:G374E;ENSP00000335465:G288E	ENSP00000335465:G288E	G	+	2	0	DLST	74437583	1.000000	0.71417	0.984000	0.44739	0.871000	0.50021	9.869000	0.99810	2.608000	0.88229	0.462000	0.41574	GGA		0.473	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1			21	94	0	0	0	0	21	94				
DICER1	23405	broad.mit.edu	37	14	95560403	95560403	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr14:95560403G>T	ENST00000526495.1	-	26	5477	c.5186C>A	c.(5185-5187)cCg>cAg	p.P1729Q	DICER1_ENST00000541352.1_Missense_Mutation_p.P1729Q|DICER1_ENST00000527416.2_5'Flank|DICER1_ENST00000556045.1_Missense_Mutation_p.P627Q|DICER1_ENST00000343455.3_Missense_Mutation_p.P1729Q|DICER1_ENST00000527414.1_Missense_Mutation_p.P1729Q|DICER1_ENST00000393063.1_Missense_Mutation_p.P1729Q			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1729	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.P1729L(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CAGGACCCCCGGGGAGTGCTG	0.522			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2		NA	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			1	Substitution - Missense(1)		large_intestine(1)	skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(5185-5187)CCG>CAG		dicer1							70.0	77.0	74.0					14																	95560403		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95560403G>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5186C>A	14.37:g.95560403G>T	ENSP00000437256:p.Pro1729Gln					DICER1_uc010avh.1_Missense_Mutation_p.P627Q|DICER1_uc001ydv.2_Missense_Mutation_p.P1719Q|DICER1_uc001ydx.2_Missense_Mutation_p.P1729Q	p.P1729Q	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	25	5368	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1729	P->E: No effect on activity.		RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5186C>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094193	0.94149	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	D;D;D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08;-2.08;-2.08	5.43	5.43	0.79202	Ribonuclease III (5);	0.000000	0.85682	D	0.000000	D	0.93871	0.8039	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93736	0.7046	10	0.52906	T	0.07	-15.5702	19.2735	0.94021	0.0:0.0:1.0:0.0	.	627;1729	B3KRG4;Q9UPY3	.;DICER_HUMAN	Q	1729;1729;1729;1729;627;1729	ENSP00000343745:P1729Q;ENSP00000437256:P1729Q;ENSP00000376783:P1729Q;ENSP00000435681:P1729Q;ENSP00000451041:P627Q;ENSP00000444719:P1729Q	ENSP00000343745:P1729Q	P	-	2	0	DICER1	94630156	1.000000	0.71417	0.953000	0.39169	0.967000	0.64934	9.389000	0.97243	2.549000	0.85964	0.655000	0.94253	CCG		0.522	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			6	99	1	0	2.01e-06	2.22e-06	6	99				
DEGS2	123099	broad.mit.edu	37	14	100615443	100615443	+	Silent	SNP	G	G	A	rs145891510		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr14:100615443G>A	ENST00000305631.5	-	2	1262	c.687C>T	c.(685-687)ttC>ttT	p.F229F	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2									p.F229F(2)		breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCTCGGCCACGAAGTGGCCCG	0.622																																						uc001ygx.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(685-687)TTC>TTT		degenerative spermatocyte homolog 2, lipid		G		0,4406		0,0,2203	61.0	73.0	69.0		687	-5.1	0.8	14	dbSNP_134	69	2,8592	1.2+/-3.3	0,2,4295	no	coding-synonymous	DEGS2	NM_206918.2		0,2,6498	AA,AG,GG		0.0233,0.0,0.0154		229/324	100615443	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	123099				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity	g.chr14:100615443G>A		CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"""Fatty acid desaturases"""	20113	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 2"", ""dihydroceramide desaturase 2"""	610862	"""chromosome 14 open reading frame 66"", ""degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"""	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.687C>T	14.37:g.100615443G>A							p.F229F	NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN			2	775	-		Melanoma(154;0.212)	229			Helical; (Potential).			Silent	SNP	ENST00000305631.5	37	c.687C>T	CCDS9956.1																																																																																				0.622	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414003.1	NM_206918		10	129	0	0	0	0	10	129				
RTF1	23168	broad.mit.edu	37	15	41769676	41769676	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr15:41769676G>A	ENST00000389629.4	+	14	1715	c.1703G>A	c.(1702-1704)cGg>cAg	p.R568Q		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	568					DNA-templated transcription, initiation (GO:0006352)|endodermal cell fate commitment (GO:0001711)|histone H3-K4 trimethylation (GO:0080182)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		CAGCGGAACCGGGAGTGGAAC	0.433																																						uc001zny.2		NA																	0				ovary(2)	2						c.(1702-1704)CGG>CAG		Paf1/RNA polymerase II complex component							114.0	108.0	110.0					15																	41769676		2203	4300	6503	SO:0001583	missense	23168				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	g.chr15:41769676G>A	D87440	CCDS32200.2	15q14	2004-03-03	2005-07-20	2005-07-20	ENSG00000137815	ENSG00000137815			28996	protein-coding gene	gene with protein product		611633	"""KIAA0252"""	KIAA0252		15632063	Standard	NM_015138		Approved		uc001zny.3	Q92541	OTTHUMG00000133744	ENST00000389629.4:c.1703G>A	15.37:g.41769676G>A	ENSP00000374280:p.Arg568Gln						p.R568Q	NM_015138	NP_055953	Q92541	RTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)	14	1715	+		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)	568					Q96BX6	Missense_Mutation	SNP	ENST00000389629.4	37	c.1703G>A	CCDS32200.2	.	.	.	.	.	.	.	.	.	.	G	36	5.657272	0.96724	.	.	ENSG00000137815	ENST00000389629	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.78547	0.4300	M	0.77103	2.36	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.79315	-0.1854	9	0.52906	T	0.07	-10.8948	19.1936	0.93677	0.0:0.0:1.0:0.0	.	568	Q92541	RTF1_HUMAN	Q	568	.	ENSP00000374280:R568Q	R	+	2	0	RTF1	39556968	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.146000	0.94640	2.770000	0.95276	0.563000	0.77884	CGG		0.433	RTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258111.1	NM_015138		13	111	0	0	0	0	13	111				
PARP16	54956	broad.mit.edu	37	15	65555578	65555578	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr15:65555578C>T	ENST00000444347.2	-	2	671	c.255G>A	c.(253-255)tgG>tgA	p.W85*	PARP16_ENST00000261888.6_Nonsense_Mutation_p.W200*			Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	200	PARP alpha-helical.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GGCTGTGCTGCCACCCATGGC	0.582																																					NSCLC(50;885 1163 13509 21242 41978)	uc002aoo.2		NA																	0				lung(2)	2						c.(598-600)TGG>TGA		poly (ADP-ribose) polymerase family, member 16							85.0	66.0	73.0					15																	65555578		2201	4299	6500	SO:0001587	stop_gained	54956					integral to membrane	NAD+ ADP-ribosyltransferase activity	g.chr15:65555578C>T	AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"""Poly (ADP-ribose) polymerases"""	26040	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 30"""	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000444347.2:c.255G>A	15.37:g.65555578C>T	ENSP00000396118:p.Trp85*					PARP16_uc002aop.2_Nonsense_Mutation_p.W85*|PARP16_uc002aoq.2_Nonsense_Mutation_p.W200*	p.W200*	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN			4	854	-			200			PARP catalytic.		Q6PK64|Q9NX03	Nonsense_Mutation	SNP	ENST00000444347.2	37	c.600G>A		.	.	.	.	.	.	.	.	.	.	C	41	8.710488	0.98925	.	.	ENSG00000138617	ENST00000261888;ENST00000444347	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5816	18.6133	0.91294	0.0:1.0:0.0:0.0	.	.	.	.	X	200;85	.	ENSP00000261888:W200X	W	-	3	0	PARP16	63342631	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.679000	0.84048	2.636000	0.89361	0.655000	0.94253	TGG		0.582	PARP16-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000418174.1	NM_017851		11	43	0	0	0	0	11	43				
MPI	4351	broad.mit.edu	37	15	75189376	75189376	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr15:75189376C>T	ENST00000352410.4	+	7	936	c.869C>T	c.(868-870)tCa>tTa	p.S290L	MPI_ENST00000323744.6_Missense_Mutation_p.S229L|MPI_ENST00000563786.1_Missense_Mutation_p.S270L|MPI_ENST00000535694.1_Missense_Mutation_p.S240L|CTD-2235H24.2_ENST00000564692.1_RNA|MPI_ENST00000566377.1_Intron			P34949	MPI_HUMAN	mannose phosphate isomerase	290					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)	p.S290L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						ATGGCGTGTTCAGACAACACA	0.537																																						uc002azc.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(868-870)TCA>TTA		mannose-6- phosphate isomerase							201.0	165.0	177.0					15																	75189376		2197	4295	6492	SO:0001583	missense	4351				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	g.chr15:75189376C>T		CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.869C>T	15.37:g.75189376C>T	ENSP00000318318:p.Ser290Leu					MPI_uc002azd.1_Intron|MPI_uc010ulx.1_Missense_Mutation_p.S240L|MPI_uc002aze.1_Missense_Mutation_p.S229L	p.S290L	NM_002435	NP_002426	P34949	MPI_HUMAN			7	874	+			290					A8K8K9|Q96AB0	Missense_Mutation	SNP	ENST00000352410.4	37	c.869C>T	CCDS10272.1	.	.	.	.	.	.	.	.	.	.	C	33	5.197723	0.94997	.	.	ENSG00000178802	ENST00000352410;ENST00000535694;ENST00000323744	D;D;D	0.99158	-5.5;-5.5;-5.5	5.04	5.04	0.67666	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);Phosphomannose isomerase, type I, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99582	0.9849	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97730	1.0202	10	0.87932	D	0	.	17.4325	0.87543	0.0:1.0:0.0:0.0	.	229;290	P34949-2;P34949	.;MPI_HUMAN	L	290;240;229	ENSP00000318318:S290L;ENSP00000440447:S240L;ENSP00000318192:S229L	ENSP00000318192:S229L	S	+	2	0	MPI	72976429	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.650000	0.83521	2.374000	0.81015	0.306000	0.20318	TCA		0.537	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4			48	148	0	0	0	0	48	148				
FAM173A	65990	broad.mit.edu	37	16	772479	772479	+	Silent	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr16:772479C>T	ENST00000569529.1	+	5	930	c.630C>T	c.(628-630)tcC>tcT	p.S210S	FAM173A_ENST00000219535.3_Silent_p.S193S|FAM173A_ENST00000564000.1_3'UTR	NM_023933.2	NP_076422.1	Q9BQD7	F173A_HUMAN	family with sequence similarity 173, member A	210						integral component of membrane (GO:0016021)				pancreas(1)	1						AGGCCGCCTCCTCGCGGATAC	0.637																																						uc002cje.2		NA																	0				pancreas(1)	1						c.(628-630)TCC>TCT		hypothetical protein LOC65990							20.0	24.0	23.0					16																	772479		2188	4291	6479	SO:0001819	synonymous_variant	65990					integral to membrane		g.chr16:772479C>T	BC002624	CCDS10423.1, CCDS59254.1	16p13.3	2008-06-19	2008-06-19	2008-06-19	ENSG00000103254	ENSG00000103254			14152	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 24"""	C16orf24			Standard	NM_023933		Approved	MGC2494	uc002cje.4	Q9BQD7	OTTHUMG00000121177	ENST00000569529.1:c.630C>T	16.37:g.772479C>T							p.S210S	NM_023933	NP_076422	Q9BQD7	F173A_HUMAN			5	747	+			210					A2IDD4	Silent	SNP	ENST00000569529.1	37	c.630C>T	CCDS10423.1																																																																																				0.637	FAM173A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241667.2	NM_023933		13	30	0	0	0	0	13	30				
CHD9	80205	broad.mit.edu	37	16	53358697	53358697	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr16:53358697C>T	ENST00000398510.3	+	38	8671	c.8584C>T	c.(8584-8586)Cct>Tct	p.P2862S	CHD9_ENST00000447540.1_Missense_Mutation_p.P2847S|CHD9_ENST00000564845.1_Missense_Mutation_p.P2846S|CHD9_ENST00000566029.1_Missense_Mutation_p.P2846S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2862					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGAACCAAGTCCTCTCAATGA	0.398																																						uc002ehb.2		NA																	0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(8584-8586)CCT>TCT		chromodomain helicase DNA binding protein 9							37.0	34.0	35.0					16																	53358697		1872	4100	5972	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53358697C>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.8584C>T	16.37:g.53358697C>T	ENSP00000381522:p.Pro2862Ser					CHD9_uc002egy.2_Missense_Mutation_p.P2846S|CHD9_uc002ehc.2_Missense_Mutation_p.P2847S|CHD9_uc002ehf.2_Missense_Mutation_p.P1960S|CHD9_uc010cbw.2_Missense_Mutation_p.P928S	p.P2862S	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			38	8748	+		all_cancers(37;0.0212)	2862					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.8584C>T		.	.	.	.	.	.	.	.	.	.	C	1.835	-0.468979	0.04445	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.84800	-1.9	5.06	3.86	0.44501	.	0.123761	0.36703	N	0.002446	T	0.56529	0.1991	N	0.03608	-0.345	0.32441	N	0.546763	B;B;B;B	0.33883	0.157;0.0;0.43;0.0	B;B;B;B	0.25614	0.014;0.001;0.062;0.001	T	0.61412	-0.7068	10	0.08599	T	0.76	-15.7725	3.7192	0.08449	0.0:0.6386:0.0:0.3614	.	928;2847;2862;2846	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	S	2847;2846;928	ENSP00000396345:P2847S	ENSP00000381522:P2846S	P	+	1	0	CHD9	51916198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.966000	0.63715	2.507000	0.84556	0.655000	0.94253	CCT		0.398	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		7	20	0	0	0	0	7	20				
GFOD2	81577	broad.mit.edu	37	16	67709084	67709084	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr16:67709084C>G	ENST00000268797.7	-	3	1477	c.1132G>C	c.(1132-1134)Gag>Cag	p.E378Q	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	378					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TGAAGTGCCTCACACAGGTTC	0.627																																						uc002eub.2		NA																	0				ovary(2)|skin(1)	3						c.(1132-1134)GAG>CAG		glucose-fructose oxidoreductase domain							124.0	116.0	119.0					16																	67709084		2198	4300	6498	SO:0001583	missense	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67709084C>G	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.1132G>C	16.37:g.67709084C>G	ENSP00000268797:p.Glu378Gln					GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.E273Q	p.E378Q	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	3	1427	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	378					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	c.1132G>C	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039440	0.35989	.	.	ENSG00000141098	ENST00000268797	T	0.47177	0.85	5.62	5.62	0.85841	.	0.104187	0.64402	D	0.000003	T	0.40767	0.1130	L	0.40543	1.245	0.58432	D	0.999999	P	0.45176	0.852	B	0.37198	0.243	T	0.25710	-1.0124	10	0.33141	T	0.24	-31.8077	19.243	0.93891	0.0:1.0:0.0:0.0	.	378	Q3B7J2	GFOD2_HUMAN	Q	378	ENSP00000268797:E378Q	ENSP00000268797:E378Q	E	-	1	0	GFOD2	66266585	1.000000	0.71417	0.186000	0.23195	0.111000	0.19643	5.540000	0.67205	2.635000	0.89317	0.557000	0.71058	GAG		0.627	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		35	182	0	0	0	0	35	182				
SLC7A6OS	84138	broad.mit.edu	37	16	68344358	68344358	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr16:68344358G>T	ENST00000263997.6	-	2	369	c.351C>A	c.(349-351)agC>agA	p.S117R	PRMT7_ENST00000441236.1_5'Flank|PRMT7_ENST00000449359.3_5'Flank|snoU13_ENST00000458872.1_RNA|PRMT7_ENST00000339507.5_5'Flank|PRMT7_ENST00000348497.4_5'Flank	NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	117					hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		ACTCCTGGCCGCTCGAGGTGG	0.672																																						uc002evw.1		NA																	0				ovary(1)	1						c.(349-351)AGC>AGA		solute carrier family 7, member 6 opposite							9.0	10.0	9.0					16																	68344358		2179	4269	6448	SO:0001583	missense	84138				protein transport	cytoplasm|nucleus		g.chr16:68344358G>T		CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558	ENST00000263997.6:c.351C>A	16.37:g.68344358G>T	ENSP00000263997:p.Ser117Arg					PRMT7_uc002evx.1_5'Flank|PRMT7_uc002evy.1_5'Flank|PRMT7_uc010vlg.1_5'Flank	p.S117R	NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)	2	370	-		Ovarian(137;0.192)	117					Q8TCZ3|Q9H8R8	Missense_Mutation	SNP	ENST00000263997.6	37	c.351C>A	CCDS10865.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.529820	0.27387	.	.	ENSG00000103061	ENST00000263997	T	0.18174	2.23	4.38	-0.237	0.13061	.	1.260580	0.04812	N	0.435396	T	0.10981	0.0268	N	0.22421	0.69	0.09310	N	1	B	0.24823	0.112	B	0.26310	0.068	T	0.35525	-0.9785	10	0.16896	T	0.51	-0.7126	5.3112	0.15831	0.1805:0.1709:0.6486:0.0	.	117	Q96CW6	S7A6O_HUMAN	R	117	ENSP00000263997:S117R	ENSP00000263997:S117R	S	-	3	2	SLC7A6OS	66901859	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.270000	0.18607	-0.003000	0.14444	0.650000	0.86243	AGC		0.672	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268894.3	NM_032178		5	12	1	0	0.00116845	0.00123586	5	12				
ZFPM1	161882	broad.mit.edu	37	16	88601319	88601319	+	Missense_Mutation	SNP	A	A	T	rs373495439		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr16:88601319A>T	ENST00000319555.3	+	10	3275	c.2953A>T	c.(2953-2955)Agc>Tgc	p.S985C		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	985					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CAAGTTCAGCAGCCTGTCCAC	0.622																																					Pancreas(49;850 1106 29641 32847 38344)	uc002fkv.2		NA																	0				central_nervous_system(1)	1						c.(2953-2955)AGC>TGC		zinc finger protein, multitype 1							51.0	59.0	56.0					16																	88601319		2194	4299	6493	SO:0001583	missense	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88601319A>T	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.2953A>T	16.37:g.88601319A>T	ENSP00000326630:p.Ser985Cys						p.S985C	NM_153813	NP_722520	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	10	2986	+			985			C2HC-type 5.			Missense_Mutation	SNP	ENST00000319555.3	37	c.2953A>T	CCDS32502.1	.	.	.	.	.	.	.	.	.	.	a	27.1	4.801608	0.90538	.	.	ENSG00000179588	ENST00000319555	T	0.43688	0.94	4.07	4.07	0.47477	Zinc finger, C2H2-like (1);	0.000000	0.85682	U	0.000000	T	0.59649	0.2209	M	0.63843	1.955	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.63413	-0.6643	10	0.87932	D	0	-20.7314	11.9191	0.52781	1.0:0.0:0.0:0.0	.	985	Q8IX07	FOG1_HUMAN	C	985	ENSP00000326630:S985C	ENSP00000326630:S985C	S	+	1	0	ZFPM1	87128820	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	5.773000	0.68898	1.498000	0.48600	0.451000	0.29950	AGC		0.622	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			24	68	0	0	0	0	24	68				
DPH1	1801	broad.mit.edu	37	17	1939319	1939319	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr17:1939319G>T	ENST00000263083.6	+	4	394	c.349G>T	c.(349-351)Gtg>Ttg	p.V117L	DPH1_ENST00000576891.2_3'UTR|DPH1_ENST00000570477.1_Missense_Mutation_p.V37L	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	117					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V117L(1)		endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						GGCTTGCTGTGTGGATGACTT	0.647																																						uc002fts.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	pancreas(1)	1						c.(349-351)GTG>TTG		diptheria toxin resistance protein required for							130.0	142.0	138.0					17																	1939319		2163	4245	6408	SO:0001583	missense	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1939319G>T	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"""ovarian tumor suppressor candidate 1"""	603527	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)"", ""DPH-like 1 (S. cerevisiae)"", ""DPH1 homolog (S. cerevisiae)"""	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.349G>T	17.37:g.1939319G>T	ENSP00000263083:p.Val117Leu					DPH1_uc002ftr.1_RNA|DPH1_uc002ftt.2_Missense_Mutation_p.V112L|DPH1_uc010cjx.2_Intron|DPH1_uc010vqs.1_Missense_Mutation_p.V127L|DPH1_uc002ftu.2_5'Flank|DPH1_uc002ftv.2_5'Flank	p.V117L	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN			4	367	+			117					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Missense_Mutation	SNP	ENST00000263083.6	37	c.349G>T	CCDS42228.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054416	0.93793	.	.	ENSG00000108963	ENST00000263083	T	0.46819	0.86	4.72	4.72	0.59763	.	0.146671	0.44902	D	0.000409	T	0.60958	0.2309	L	0.59967	1.855	0.80722	D	1	D;D;B	0.54207	0.965;0.965;0.338	P;P;B	0.57371	0.819;0.819;0.313	T	0.65005	-0.6273	10	0.72032	D	0.01	-18.473	16.4598	0.84032	0.0:0.0:1.0:0.0	.	127;127;117	E7ENH3;B4DNK0;Q9BZG8	.;.;DPH1_HUMAN	L	117	ENSP00000263083:V117L	ENSP00000263083:V117L	V	+	1	0	DPH1	1886069	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.499000	0.97975	2.452000	0.82932	0.455000	0.32223	GTG		0.647	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383		17	47	1	0	7.21e-19	8.46e-19	17	47				
TP53	7157	broad.mit.edu	37	17	7577046	7577046	+	Nonsense_Mutation	SNP	C	C	A	rs201744589		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr17:7577046C>A	ENST00000269305.4	-	8	1081	c.892G>T	c.(892-894)Gag>Tag	p.E298*	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Nonsense_Mutation_p.E298*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	298	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGGGGCAGCTCGTGGTGAGGC	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		67	Substitution - Nonsense(49)|Whole gene deletion(8)|Deletion - In frame(3)|Unknown(2)|Deletion - Frameshift(2)|Substitution - Missense(2)|Insertion - Frameshift(1)	p.E298*(35)|p.0?(7)|p.E298K(2)|p.?(2)|p.E298V(2)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298A(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298fs*47(1)|p.E298E(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1)	lung(21)|upper_aerodigestive_tract(13)|breast(6)|bone(5)|haematopoietic_and_lymphoid_tissue(4)|urinary_tract(4)|central_nervous_system(2)|oesophagus(2)|ovary(2)|pancreas(2)|liver(2)|large_intestine(1)|stomach(1)|salivary_gland(1)|skin(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM031387	TP53	M		c.(892-894)GAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							110.0	96.0	101.0					17																	7577046		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577046C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.892G>T	17.37:g.7577046C>A	ENSP00000269305:p.Glu298*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E298*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E166*|TP53_uc010cng.1_Nonsense_Mutation_p.E166*|TP53_uc002gii.1_Nonsense_Mutation_p.E166*|TP53_uc010cnh.1_Nonsense_Mutation_p.E298*|TP53_uc010cni.1_Nonsense_Mutation_p.E298*|TP53_uc002gij.2_Nonsense_Mutation_p.E298*	p.E298*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1086	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	298		E -> V (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.892G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603544	0.66445	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	-4.03	0.04021	.	0.553557	0.18174	N	0.149346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-12.8318	5.9489	0.19234	0.0:0.2155:0.4162:0.3682	.	.	.	.	X	298;298;298;298;298;287;166	.	ENSP00000269305:E298X	E	-	1	0	TP53	7517771	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.837000	0.04377	-0.441000	0.07201	-0.218000	0.12543	GAG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	66	1	0	4.16e-05	4.52e-05	21	66				
DBF4B	80174	broad.mit.edu	37	17	42828155	42828155	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr17:42828155C>G	ENST00000315005.3	+	14	1520	c.1382C>G	c.(1381-1383)gCt>gGt	p.A461G	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	461					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				ACTTCCTTGGCTCTGCTGCCT	0.632																																						uc002ihf.2		NA																	0					0						c.(1381-1383)GCT>GGT		DBF4 homolog B isoform 1							77.0	69.0	71.0					17																	42828155		2203	4300	6503	SO:0001583	missense	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42828155C>G	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1382C>G	17.37:g.42828155C>G	ENSP00000323663:p.Ala461Gly					DBF4B_uc010wjc.1_Intron	p.A461G	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN			14	1595	+		Prostate(33;0.0322)	461					D3DX56|Q8TEX0|Q96B19|Q9H912	Missense_Mutation	SNP	ENST00000315005.3	37	c.1382C>G	CCDS11485.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385777	0.25031	.	.	ENSG00000161692	ENST00000315005	T	0.55052	0.54	2.73	1.74	0.24563	.	185.270000	0.00610	U	0.000406	T	0.31827	0.0809	N	0.08118	0	0.09310	N	0.999995	P	0.34522	0.455	B	0.31751	0.135	T	0.27971	-1.0058	9	.	.	.	.	5.7365	0.18069	0.0:0.8455:0.0:0.1545	.	461	Q8NFT6	DBF4B_HUMAN	G	461	ENSP00000323663:A461G	.	A	+	2	0	DBF4B	40183681	0.001000	0.12720	0.130000	0.21974	0.005000	0.04900	0.047000	0.14056	0.718000	0.32166	0.462000	0.41574	GCT		0.632	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		26	93	0	0	0	0	26	93				
USP32	84669	broad.mit.edu	37	17	58343387	58343387	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr17:58343387C>T	ENST00000300896.4	-	8	1071	c.877G>A	c.(877-879)Gtg>Atg	p.V293M	USP32_ENST00000393003.3_Missense_Mutation_p.V293M	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	293	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AGTGCAACCACCATGTCTCTC	0.393																																						uc002iyo.1		NA																	0				lung(2)|breast(2)|large_intestine(1)	5						c.(877-879)GTG>ATG		ubiquitin specific protease 32							132.0	122.0	126.0					17																	58343387		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58343387C>T	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.877G>A	17.37:g.58343387C>T	ENSP00000300896:p.Val293Met					USP32_uc010wov.1_Missense_Mutation_p.V293M	p.V293M	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		8	1163	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		293			EF-hand 3.		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.877G>A	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352511	0.61293	.	.	ENSG00000170832	ENST00000300896;ENST00000393003	T;T	0.67523	-0.27;-0.27	5.49	5.49	0.81192	EF-hand-like domain (1);	0.053457	0.64402	D	0.000001	T	0.58264	0.2110	L	0.31578	0.945	0.58432	D	0.999999	B;B	0.23128	0.075;0.08	B;B	0.31245	0.076;0.126	T	0.57266	-0.7841	10	0.51188	T	0.08	.	13.3167	0.60411	0.0:0.9231:0.0:0.0769	.	293;293	Q7Z5T3;Q8NFA0	.;UBP32_HUMAN	M	293	ENSP00000300896:V293M;ENSP00000376727:V293M	ENSP00000300896:V293M	V	-	1	0	USP32	55698169	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.762000	0.62250	2.572000	0.86782	0.591000	0.81541	GTG		0.393	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		7	135	0	0	0	0	7	135				
ARSG	22901	broad.mit.edu	37	17	66391318	66391318	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr17:66391318C>T	ENST00000448504.2	+	10	1992	c.1196C>T	c.(1195-1197)tCa>tTa	p.S399L	ARSG_ENST00000452479.2_Missense_Mutation_p.S235L|ARSG_ENST00000582154.1_3'UTR	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	399					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sulfur compound metabolic process (GO:0006790)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular space (GO:0005615)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTGGCCGGTCACAGCCTGGG	0.582																																						uc002jhc.2		NA																	0				ovary(1)	1						c.(1195-1197)TCA>TTA		Arylsulfatase G precursor							127.0	104.0	112.0					17																	66391318		2203	4300	6503	SO:0001583	missense	22901				sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding	g.chr17:66391318C>T	AB023218	CCDS11676.1	17q24.2	2013-07-15	2006-02-15		ENSG00000141337	ENSG00000141337		"""Arylsulfatase family"""	24102	protein-coding gene	gene with protein product		610008				12461688, 16174644	Standard	NM_014960		Approved	KIAA1001	uc002jhc.2	Q96EG1	OTTHUMG00000179810	ENST00000448504.2:c.1196C>T	17.37:g.66391318C>T	ENSP00000407193:p.Ser399Leu					ARSG_uc002jhb.1_Missense_Mutation_p.S235L	p.S399L	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)		10	1992	+			399					Q6UXF2|Q9Y2K4	Missense_Mutation	SNP	ENST00000448504.2	37	c.1196C>T	CCDS11676.1	.	.	.	.	.	.	.	.	.	.	C	9.172	1.021316	0.19433	.	.	ENSG00000141337	ENST00000452479;ENST00000448504	.	.	.	5.25	2.07	0.26955	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.765060	0.12253	N	0.485497	T	0.43897	0.1268	M	0.69523	2.12	0.09310	N	1	B	0.17852	0.024	B	0.18871	0.023	T	0.40001	-0.9586	9	0.44086	T	0.13	.	5.8159	0.18492	0.0:0.68:0.1553:0.1647	.	399	Q96EG1	ARSG_HUMAN	L	399;298	.	ENSP00000407193:S298L	S	+	2	0	ARSG	63902913	0.000000	0.05858	0.001000	0.08648	0.922000	0.55478	0.288000	0.18939	0.332000	0.23536	0.555000	0.69702	TCA		0.582	ARSG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448369.1	NM_014960		5	89	0	0	0	0	5	89				
SLC9A3R1	9368	broad.mit.edu	37	17	72764743	72764743	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr17:72764743G>A	ENST00000262613.5	+	6	1220	c.1025G>A	c.(1024-1026)cGg>cAg	p.R342Q	SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.R186Q	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	342					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)			large_intestine(4)	4						AGCAGCAAACGGGCCCCGCAG	0.612																																						uc002jlo.2		NA																	0					0						c.(1024-1026)CGG>CAG		sodium/hydrogen exchanger regulatory factor 1							92.0	100.0	98.0					17																	72764743		2203	4300	6503	SO:0001583	missense	9368				apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association	g.chr17:72764743G>A	AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"""			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.1025G>A	17.37:g.72764743G>A	ENSP00000262613:p.Arg342Gln					SLC9A3R1_uc002jlp.2_Missense_Mutation_p.R186Q	p.R342Q	NM_004252	NP_004243	O14745	NHRF1_HUMAN			6	1248	+			342					B3KY21|O43552|Q86WQ5	Missense_Mutation	SNP	ENST00000262613.5	37	c.1025G>A	CCDS11705.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997856	0.93227	.	.	ENSG00000109062	ENST00000262613	T	0.42900	0.96	4.88	4.88	0.63580	EBP50, C-terminal (2);	0.185949	0.43416	D	0.000565	T	0.48241	0.1489	L	0.54323	1.7	0.40216	D	0.977689	D	0.53745	0.962	P	0.51516	0.672	T	0.53865	-0.8378	10	0.87932	D	0	-20.1399	11.5317	0.50614	0.0821:0.0:0.9179:0.0	.	342	O14745	NHRF1_HUMAN	Q	342	ENSP00000262613:R342Q	ENSP00000262613:R342Q	R	+	2	0	SLC9A3R1	70276338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.269000	0.51592	2.250000	0.74265	0.591000	0.81541	CGG		0.612	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443671.1			38	119	0	0	0	0	38	119				
OSBPL1A	114876	broad.mit.edu	37	18	21745031	21745031	+	Silent	SNP	C	C	T	rs143353189		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr18:21745031C>T	ENST00000319481.3	-	27	2954	c.2748G>A	c.(2746-2748)acG>acA	p.T916T	RP11-799B12.4_ENST00000583267.1_lincRNA|OSBPL1A_ENST00000399443.3_Silent_p.T403T|OSBPL1A_ENST00000357041.4_Silent_p.T534T	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	916					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)	p.T916T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GCACGCACCTCGTCTTCCAGT	0.532																																						uc002kve.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(4)	4						c.(2746-2748)ACG>ACA		oxysterol-binding protein-like 1A isoform B		C	,,	1,4405	2.1+/-5.4	0,1,2202	235.0	214.0	221.0		1602,1209,2748	-7.5	0.9	18	dbSNP_134	221	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	OSBPL1A	NM_001242508.1,NM_018030.4,NM_080597.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	534/569,403/438,916/951	21745031	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	114876				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding	g.chr18:21745031C>T	AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2748G>A	18.37:g.21745031C>T						OSBPL1A_uc002kvd.2_Silent_p.T403T|OSBPL1A_uc010xbc.1_Silent_p.T534T	p.T916T	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN			27	2922	-	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)		916					B7Z7D3|Q9BZF5|Q9NW87	Silent	SNP	ENST00000319481.3	37	c.2748G>A	CCDS11884.1																																																																																				0.532	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254902.1	NM_080597		69	262	0	0	0	0	69	262				
SMAD4	4089	broad.mit.edu	37	18	48591919	48591919	+	Missense_Mutation	SNP	G	G	A	rs377767347		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr18:48591919G>A	ENST00000342988.3	+	9	1620	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	SMAD4_ENST00000588745.1_Missense_Mutation_p.R265H|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R361H(12)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGAGGAGATCGCTTTTGTTTG	0.413																																						uc010xdp.1		NA																	50	Whole gene deletion(36)|Substitution - Missense(12)|Unknown(2)	p.0?(35)|p.R361C(6)|p.R361H(3)|p.?(2)|p.R361S(1)	pancreas(26)|large_intestine(13)|lung(3)|breast(3)|upper_aerodigestive_tract(2)|stomach(2)|oesophagus(1)	pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369	GRCh37	CM004254	SMAD4	M		c.(1081-1083)CGC>CAC		mothers against decapentaplegic homolog 4							167.0	138.0	148.0					18																	48591919		2203	4300	6503	SO:0001583	missense	4089	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591919G>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1082G>A	18.37:g.48591919G>A	ENSP00000341551:p.Arg361His					SMAD4_uc002lfb.3_Missense_Mutation_p.R206H	p.R361H	NM_005359	NP_005350	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1620	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	361		R -> H (in a colorectal cancer sample; somatic mutation).|R -> C (in JPS).	MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1082G>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477304	0.96291	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98120	-4.73;-4.73	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99741	1.1015	10	0.87932	D	0	.	18.9646	0.92691	0.0:0.0:1.0:0.0	.	361	Q13485	SMAD4_HUMAN	H	361	ENSP00000341551:R361H;ENSP00000381452:R361H	ENSP00000341551:R361H	R	+	2	0	SMAD4	46845917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.828000	0.86729	2.771000	0.95319	0.563000	0.77884	CGC		0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		16	63	0	0	0	0	16	63				
ACSBG2	81616	broad.mit.edu	37	19	6185605	6185605	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:6185605C>T	ENST00000586696.1	+	11	1757	c.1481C>T	c.(1480-1482)tCt>tTt	p.S494F	ACSBG2_ENST00000252669.5_Missense_Mutation_p.S494F|ACSBG2_ENST00000588485.1_Missense_Mutation_p.S307F|ACSBG2_ENST00000588304.1_Missense_Mutation_p.S444F|ACSBG2_ENST00000591403.1_Missense_Mutation_p.S494F|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	494					cell differentiation (GO:0030154)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid metabolic process (GO:0001676)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGCTACACTCTGGGGATCTG	0.552																																						uc002mef.1		NA																	0				ovary(1)	1						c.(1480-1482)TCT>TTT		bubblegum-related acyl-CoA synthetase 2							144.0	135.0	138.0					19																	6185605		2203	4300	6503	SO:0001583	missense	81616				cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity	g.chr19:6185605C>T		CCDS12159.1, CCDS74269.1	19p13.3	2012-10-02			ENSG00000130377	ENSG00000130377		"""Acyl-CoA synthetase family"""	24174	protein-coding gene	gene with protein product	"""bubblegum related protein"""	614363				11230166	Standard	XM_005259653		Approved	BGR, PRTD-NY3, DKFZp434K1635	uc002meh.1	Q5FVE4	OTTHUMG00000180754	ENST00000586696.1:c.1481C>T	19.37:g.6185605C>T	ENSP00000465589:p.Ser494Phe					ACSBG2_uc002mee.1_Missense_Mutation_p.S307F|ACSBG2_uc002meg.1_Missense_Mutation_p.S494F|ACSBG2_uc002meh.1_Missense_Mutation_p.S494F|ACSBG2_uc002mei.1_Missense_Mutation_p.S444F|ACSBG2_uc010xiz.1_Missense_Mutation_p.S494F	p.S494F	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN			11	1708	+			494					B3KSF2|Q6UWJ3|Q7Z5A0|Q8WW03|Q96M36|Q9BYZ3|Q9H0C4	Missense_Mutation	SNP	ENST00000586696.1	37	c.1481C>T	CCDS12159.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707283	0.48412	.	.	ENSG00000130377	ENST00000252669	T	0.12672	2.66	4.53	3.47	0.39725	AMP-dependent synthetase/ligase (1);	0.560436	0.15060	N	0.282811	T	0.46190	0.1380	M	0.92555	3.32	0.58432	D	0.99999	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.988	T	0.55425	-0.8143	10	0.87932	D	0	-24.5562	13.0011	0.58676	0.0:0.8159:0.1841:0.0	.	494;494	B4DYU1;Q5FVE4	.;ACBG2_HUMAN	F	494	ENSP00000252669:S494F	ENSP00000252669:S494F	S	+	2	0	ACSBG2	6136605	1.000000	0.71417	0.956000	0.39512	0.115000	0.19883	4.653000	0.61462	0.872000	0.35775	0.555000	0.69702	TCT		0.552	ACSBG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452898.1	NM_030924		9	151	0	0	0	0	9	151				
PPAN	56342	broad.mit.edu	37	19	10221394	10221394	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:10221394G>A	ENST00000253107.7	+	11	1159	c.1053G>A	c.(1051-1053)atG>atA	p.M351I	SNORD105B_ENST00000458770.1_RNA|SNORD105_ENST00000386910.1_RNA|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.M351I|PPAN_ENST00000556468.1_Missense_Mutation_p.M351I|P2RY11_ENST00000321826.4_5'Flank|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.M351I|PPAN_ENST00000393793.1_Missense_Mutation_p.M298I	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	351					RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TGGAGGGCATGAAGAAGGCAC	0.627																																						uc002mna.2		NA																	0				ovary(2)	2						c.(1051-1053)ATG>ATA		PPAN-P2RY11 protein							48.0	56.0	53.0					19																	10221394		2203	4300	6503	SO:0001583	missense	692312				RNA splicing	nucleolus	protein binding	g.chr19:10221394G>A	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.1053G>A	19.37:g.10221394G>A	ENSP00000253107:p.Met351Ile					PPAN-P2RY11_uc010xla.1_Missense_Mutation_p.M351I|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mmz.1_Missense_Mutation_p.M351I|PPAN_uc002mnb.1_Missense_Mutation_p.M298I	p.M351I	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		11	1053	+			351					C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	ENST00000253107.7	37	c.1053G>A	CCDS12225.1	.	.	.	.	.	.	.	.	.	.	G	8.458	0.854672	0.17106	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793	T;T;T;T;T	0.61158	1.56;0.13;1.58;0.13;1.58	4.78	2.61	0.31194	.	.	.	.	.	T	0.36331	0.0963	N	0.16833	0.445	0.36284	D	0.855977	B;B;B	0.10296	0.003;0.002;0.002	B;B;B	0.09377	0.002;0.004;0.004	T	0.20075	-1.0286	9	0.37606	T	0.19	-22.1308	5.9576	0.19281	0.1831:0.1602:0.6567:0.0	.	351;351;351	C9J3F9;C9JW41;Q9NQ55	.;.;SSF1_HUMAN	I	351;351;351;351;351;298	ENSP00000411918:M351I;ENSP00000377385:M351I;ENSP00000253107:M351I;ENSP00000450710:M351I;ENSP00000377382:M298I	ENSP00000253107:M351I	M	+	3	0	PPAN;PPAN-P2RY11	10082394	0.972000	0.33761	0.954000	0.39281	0.606000	0.37113	0.017000	0.13399	0.412000	0.25729	0.561000	0.74099	ATG		0.627	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		16	63	0	0	0	0	16	63				
S1PR2	9294	broad.mit.edu	37	19	10335464	10335464	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:10335464T>A	ENST00000590320.1	-	2	228	c.118A>T	c.(118-120)Atc>Ttc	p.I40F	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	40					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.I40F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGGATGACGATGAAGGCCGAG	0.552																																					Pancreas(194;229 3020 15179 45747)	uc002mnl.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	lung(1)|central_nervous_system(1)	2						c.(118-120)ATC>TTC		endothelial differentiation, sphingolipid							149.0	141.0	144.0					19																	10335464		2203	4300	6503	SO:0001583	missense	9294				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10335464T>A	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3169	protein-coding gene	gene with protein product		605111	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"""	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.118A>T	19.37:g.10335464T>A	ENSP00000466933:p.Ile40Phe						p.I40F	NM_004230	NP_004221	O95136	S1PR2_HUMAN			2	229	-			40			Helical; Name=1; (By similarity).		Q86UN8	Missense_Mutation	SNP	ENST00000590320.1	37	c.118A>T	CCDS12229.1	.	.	.	.	.	.	.	.	.	.	T	0.579	-0.838029	0.02692	.	.	ENSG00000175898	ENST00000317726	.	.	.	5.09	5.09	0.68999	.	0.137579	0.46145	D	0.000310	T	0.40372	0.1114	L	0.35723	1.085	0.45076	D	0.998092	B	0.16166	0.016	B	0.12156	0.007	T	0.24799	-1.0150	9	0.02654	T	1	.	9.302	0.37851	0.1606:0.0:0.0:0.8394	.	40	O95136	S1PR2_HUMAN	F	40	.	ENSP00000322049:I40F	I	-	1	0	S1PR2	10196464	1.000000	0.71417	0.977000	0.42913	0.548000	0.35241	1.302000	0.33459	1.918000	0.55548	0.478000	0.44815	ATC		0.552	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		43	235	0	0	0	0	43	235				
PKN1	5585	broad.mit.edu	37	19	14569141	14569141	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:14569141A>T	ENST00000242783.6	+	9	1538	c.1373A>T	c.(1372-1374)cAt>cTt	p.H458L	PKN1_ENST00000342216.4_Missense_Mutation_p.H464L|CTC-548K16.6_ENST00000589702.1_RNA	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	458	C2.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.H458L(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						AATGAGAGGCATGAGGTGCAG	0.577																																					NSCLC(185;2539 2965 10733 52867)	uc002myp.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1372-1374)CAT>CTT		protein kinase N1 isoform 2							72.0	77.0	75.0					19																	14569141		2071	4226	6297	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14569141A>T	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1373A>T	19.37:g.14569141A>T	ENSP00000242783:p.His458Leu					PKN1_uc002myq.2_Missense_Mutation_p.H464L	p.H458L	NM_002741	NP_002732	Q16512	PKN1_HUMAN			9	1541	+			458			C2.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.1373A>T	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.256681	0.80246	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.23950	1.88;1.88	4.17	4.17	0.49024	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000001	T	0.50905	0.1643	M	0.83312	2.635	0.47547	D	0.99945	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.981	T	0.54296	-0.8315	10	0.48119	T	0.1	-23.3596	11.1981	0.48726	1.0:0.0:0.0:0.0	.	464;458	Q16512-2;Q16512	.;PKN1_HUMAN	L	458;464	ENSP00000242783:H458L;ENSP00000343325:H464L	ENSP00000242783:H458L	H	+	2	0	PKN1	14430141	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.273000	0.89887	1.540000	0.49301	0.459000	0.35465	CAT		0.577	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		10	77	0	0	0	0	10	77				
ZNF253	56242	broad.mit.edu	37	19	20003522	20003522	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:20003522T>C	ENST00000589717.1	+	4	1558	c.1466T>C	c.(1465-1467)tTa>tCa	p.L489S	AC011477.1_ENST00000578823.1_RNA|ZNF253_ENST00000355650.4_Missense_Mutation_p.L413S|CTC-559E9.8_ENST00000585571.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	489					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L489S(1)|p.L461S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACAGATCTTTTAAATGTTCCT	0.363																																						uc002noj.2		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)		0						c.(1465-1467)TTA>TCA		zinc finger protein 253							67.0	76.0	73.0					19																	20003522		2067	4227	6294	SO:0001583	missense	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20003522T>C	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.1466T>C	19.37:g.20003522T>C	ENSP00000468720:p.Leu489Ser					ZNF253_uc002nok.2_Missense_Mutation_p.L413S|ZNF253_uc002nol.2_RNA	p.L489S	NM_021047	NP_066385	O75346	ZN253_HUMAN			4	1558	+			489					A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Missense_Mutation	SNP	ENST00000589717.1	37	c.1466T>C	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	t	7.755	0.704159	0.15172	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.859	-0.416	0.12351	.	.	.	.	.	T	0.14270	0.0345	N	0.08118	0	0.09310	N	1	B	0.26635	0.155	B	0.24974	0.057	T	0.26189	-1.0110	7	.	.	.	.	2.619	0.04911	0.0:0.4685:0.0:0.5315	.	489	O75346	ZN253_HUMAN	S	489	.	.	L	+	2	0	ZNF253	19864522	0.520000	0.26250	0.308000	0.25141	0.305000	0.27757	0.042000	0.13949	0.175000	0.19841	0.172000	0.16884	TTA		0.363	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047		18	68	0	0	0	0	18	68				
ZNF536	9745	broad.mit.edu	37	19	30934639	30934639	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:30934639A>G	ENST00000355537.3	+	2	317	c.170A>G	c.(169-171)gAg>gGg	p.E57G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	57					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCAACCCCGAGGAGAAGCCC	0.677																																						uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(169-171)GAG>GGG		zinc finger protein 536							46.0	50.0	49.0					19																	30934639		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934639A>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.170A>G	19.37:g.30934639A>G	ENSP00000347730:p.Glu57Gly					ZNF536_uc010edd.1_Missense_Mutation_p.E57G	p.E57G	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	308	+	Esophageal squamous(110;0.0834)		57					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.170A>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359088	0.61403	.	.	ENSG00000198597	ENST00000355537	T	0.10099	2.91	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.22742	0.0549	L	0.32530	0.975	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.01557	-1.1325	10	0.33141	T	0.24	-37.5234	15.6688	0.77255	1.0:0.0:0.0:0.0	.	57;57	A7E228;O15090	.;ZN536_HUMAN	G	57	ENSP00000347730:E57G	ENSP00000347730:E57G	E	+	2	0	ZNF536	35626479	1.000000	0.71417	0.996000	0.52242	0.900000	0.52787	9.254000	0.95512	2.172000	0.68678	0.379000	0.24179	GAG		0.677	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		21	88	0	0	0	0	21	88				
SHANK1	50944	broad.mit.edu	37	19	51165265	51165265	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:51165265C>T	ENST00000293441.1	-	23	6461	c.6443G>A	c.(6442-6444)cGc>cAc	p.R2148H	SHANK1_ENST00000391814.1_Missense_Mutation_p.R2156H|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391813.1_Missense_Mutation_p.R1535H|SHANK1_ENST00000483981.2_5'Flank|SHANK1_ENST00000359082.3_Missense_Mutation_p.R2139H	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2148	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GATGTTCATGCGGTGGCCCAC	0.617																																						uc002psx.1		NA																	0				large_intestine(2)	2						c.(6442-6444)CGC>CAC		SH3 and multiple ankyrin repeat domains 1							69.0	63.0	65.0					19																	51165265		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51165265C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6443G>A	19.37:g.51165265C>T	ENSP00000293441:p.Arg2148His					SHANK1_uc002psw.1_Missense_Mutation_p.R1532H	p.R2148H	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	23	6462	-		all_neural(266;0.057)	2148			SAM.		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.6443G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150283	0.37923	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	3.51	3.51	0.40186	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.64402	U	0.000005	T	0.75752	0.3892	M	0.90483	3.12	0.50632	D	0.999881	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.973	T	0.82554	-0.0399	10	0.87932	D	0	.	14.3414	0.66630	0.0:1.0:0.0:0.0	.	2148;1535	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	H	2148;1535;2139;2156	ENSP00000293441:R2148H;ENSP00000375689:R1535H;ENSP00000351984:R2139H;ENSP00000375690:R2156H	ENSP00000293441:R2148H	R	-	2	0	SHANK1	55857077	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.462000	0.80851	1.981000	0.57761	0.443000	0.29094	CGC		0.617	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		16	108	0	0	0	0	16	108				
ZNF667	63934	broad.mit.edu	37	19	56952944	56952944	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:56952944C>T	ENST00000504904.3	-	7	2139	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	ZNF667_ENST00000342634.3_Missense_Mutation_p.E602K|ZNF667_ENST00000292069.6_Missense_Mutation_p.E474K|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	474					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E474K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CCACATTCCTCACACTGGTAG	0.398																																						uc002qnd.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	pancreas(1)	1						c.(1420-1422)GAG>AAG		zinc finger protein 667							72.0	69.0	70.0					19																	56952944		2203	4300	6503	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56952944C>T		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.1420G>A	19.37:g.56952944C>T	ENSP00000439402:p.Glu474Lys					ZNF667_uc010etl.2_Missense_Mutation_p.E256K|ZNF667_uc002qne.2_Missense_Mutation_p.E474K|ZNF667_uc010etm.2_Missense_Mutation_p.E417K	p.E474K	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	1582	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	474			C2H2-type 11.		B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.1420G>A	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	C	0.344	-0.948562	0.02304	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518;ENST00000360227	T;T;T	0.06608	3.28;3.28;3.28	4.91	1.41	0.22369	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42682	D	0.000668	T	0.02767	0.0083	N	0.20845	0.615	0.09310	N	1	B;B	0.25850	0.136;0.136	B;B	0.27608	0.081;0.081	T	0.42999	-0.9418	10	0.02654	T	1	-20.672	2.8795	0.05642	0.2027:0.5105:0.0:0.2868	.	602;474	E7EPS0;Q5HYK9	.;ZN667_HUMAN	K	602;474;474;256;189	ENSP00000344699:E602K;ENSP00000439402:E474K;ENSP00000292069:E474K	ENSP00000292069:E474K	E	-	1	0	ZNF667	61644756	0.000000	0.05858	0.998000	0.56505	0.012000	0.07955	-1.114000	0.03293	0.644000	0.30656	-0.182000	0.12963	GAG		0.398	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		20	102	0	0	0	0	20	102				
PEG3	5178	broad.mit.edu	37	19	57325748	57325748	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:57325748A>T	ENST00000326441.9	-	10	4425	c.4062T>A	c.(4060-4062)caT>caA	p.H1354Q	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.H1354Q|PEG3_ENST00000593695.1_Missense_Mutation_p.H1228Q|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.H1230Q|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1354	Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.H1354Q(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTTCTTCCAGATGAAGCTCCT	0.453																																						uc002qnu.2		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(4060-4062)CAT>CAA		paternally expressed 3 isoform 1							52.0	51.0	51.0					19																	57325748		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325748A>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4062T>A	19.37:g.57325748A>T	ENSP00000326581:p.His1354Gln					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.H1325Q|PEG3_uc002qnv.2_Missense_Mutation_p.H1354Q|PEG3_uc002qnw.2_Missense_Mutation_p.H1230Q|PEG3_uc002qnx.2_Missense_Mutation_p.H1228Q|PEG3_uc010etr.2_Missense_Mutation_p.H1354Q	p.H1354Q	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	4413	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1354			Glu-rich.|C2H2-type 10.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.4062T>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.786845	0.49997	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	D;D	0.81908	-1.55;-1.55	4.26	-2.06	0.07298	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000161	D	0.91161	0.7216	M	0.93854	3.465	.	.	.	P;D;D	0.76494	0.876;0.999;0.999	P;D;D	0.69824	0.683;0.958;0.966	D	0.91923	0.5549	9	0.87932	D	0	-20.0511	11.5601	0.50772	0.3765:0.0:0.6235:0.0	.	1230;1354;1289	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	Q	1354	ENSP00000326581:H1354Q;ENSP00000403051:H1354Q	ENSP00000326581:H1354Q	H	-	3	2	ZIM2	62017560	0.000000	0.05858	0.010000	0.14722	0.931000	0.56810	-2.206000	0.01231	-0.471000	0.06891	0.533000	0.62120	CAT		0.453	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			23	60	0	0	0	0	23	60				
ZNF264	9422	broad.mit.edu	37	19	57723539	57723539	+	Silent	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:57723539C>T	ENST00000263095.6	+	4	1488	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	ZNF264_ENST00000536056.1_Silent_p.L358L	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	358					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L358L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GGTCATATCTCATGTGGCACC	0.517																																						uc002qob.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(1072-1074)CTC>CTT		zinc finger protein 264							90.0	98.0	95.0					19																	57723539		2203	4300	6503	SO:0001819	synonymous_variant	9422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57723539C>T	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1074C>T	19.37:g.57723539C>T							p.L358L	NM_003417	NP_003408	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	4	1487	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	358			C2H2-type 6.		A8K8Y9|Q9P1V0	Silent	SNP	ENST00000263095.6	37	c.1074C>T	CCDS33127.1																																																																																				0.517	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1			25	127	0	0	0	0	25	127				
ATAD2B	54454	broad.mit.edu	37	2	24009039	24009039	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:24009039A>T	ENST00000238789.5	-	21	3174	c.2831T>A	c.(2830-2832)tTa>tAa	p.L944*	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	944						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATTCTGATAATTGACGAGG	0.443																																						uc002rek.3		NA																	0				central_nervous_system(1)	1						c.(2830-2832)TTA>TAA		ATPase family, AAA domain containing 2B							53.0	47.0	49.0					2																	24009039		1857	4099	5956	SO:0001587	stop_gained	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24009039A>T	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.2831T>A	2.37:g.24009039A>T	ENSP00000238789:p.Leu944*					ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Nonsense_Mutation_p.L189*|ATAD2B_uc002rej.3_Nonsense_Mutation_p.L112*	p.L944*	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN			21	3125	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		944			Potential.		B9ZVQ5|Q6ZNA6|Q8N9E7	Nonsense_Mutation	SNP	ENST00000238789.5	37	c.2831T>A	CCDS46227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	43|43	10.134915|10.134915	0.99344|0.99344	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000238789;ENST00000546030|ENST00000381024	.|.	.|.	.|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	1.329210|.	0.05008|.	N|.	0.470448|.	.|T	.|0.71962	.|0.3402	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73503	.|-0.3962	.|3	0.02654|.	T|.	1|.	.|.	16.0836|16.0836	0.81023|0.81023	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	944;112|225	.|.	ENSP00000238789:L944X|.	L|Y	-|-	2|1	0|0	ATAD2B|ATAD2B	23862543|23862543	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.264000|9.264000	0.95635|0.95635	2.260000|2.260000	0.74910|0.74910	0.528000|0.528000	0.53228|0.53228	TTA|TAT		0.443	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		9	13	0	0	0	0	9	13				
LRRTM1	347730	broad.mit.edu	37	2	80530848	80530848	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:80530848G>C	ENST00000295057.3	-	2	753	c.97C>G	c.(97-99)Ccc>Gcc	p.P33A	CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.P33A|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	33					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGGGCGGCGGGCAGCATCTGA	0.677										HNSCC(69;0.2)																												uc002sok.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(97-99)CCC>GCC		leucine rich repeat transmembrane neuronal 1							13.0	17.0	16.0					2																	80530848		2111	4188	6299	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530848G>C	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.97C>G	2.37:g.80530848G>C	ENSP00000295057:p.Pro33Ala	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.P33A	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	367	-			33					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.97C>G	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375161	0.24857	.	.	ENSG00000162951	ENST00000295057;ENST00000409148;ENST00000416268;ENST00000452811;ENST00000415098	T;T;T;T;T	0.57107	0.93;0.93;0.6;0.42;1.41	4.65	4.65	0.58169	.	0.069674	0.64402	U	0.000020	T	0.53769	0.1817	L	0.43152	1.355	0.58432	D	0.999999	D	0.55800	0.973	P	0.48704	0.587	T	0.53683	-0.8404	9	.	.	.	.	17.5101	0.87758	0.0:0.0:1.0:0.0	.	33	Q86UE6	LRRT1_HUMAN	A	33	ENSP00000295057:P33A;ENSP00000386646:P33A;ENSP00000415368:P33A;ENSP00000389473:P33A;ENSP00000404557:P33A	.	P	-	1	0	LRRTM1	80384359	1.000000	0.71417	1.000000	0.80357	0.112000	0.19704	5.603000	0.67619	2.121000	0.65114	0.436000	0.28706	CCC		0.677	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		5	20	0	0	0	0	5	20				
ANKRD36	375248	broad.mit.edu	37	2	97779539	97779539	+	Silent	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:97779539C>T	ENST00000461153.2	+	1	307	c.63C>T	c.(61-63)ttC>ttT	p.F21F	ANKRD36_ENST00000420699.2_Silent_p.F21F			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	21										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CGGATGGCTTCGCATTTCCCC	0.512																																						uc010yva.1		NA																	0					0						c.(61-63)TTC>TTT		ankyrin repeat domain 36							105.0	105.0	105.0					2																	97779539		1993	4175	6168	SO:0001819	synonymous_variant	375248							g.chr2:97779539C>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.63C>T	2.37:g.97779539C>T						ANKRD36_uc002sxn.2_Silent_p.F21F|ANKRD36_uc010yuz.1_RNA|ANKRD36_uc010fic.2_5'UTR|ANKRD36_uc002sxo.2_Silent_p.F21F|ANKRD36_uc002sxp.3_RNA	p.F21F	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			1	307	+			21					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Silent	SNP	ENST00000461153.2	37	c.63C>T	CCDS54379.1																																																																																				0.512	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			5	140	0	0	0	0	5	140				
IWS1	55677	broad.mit.edu	37	2	128244226	128244226	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:128244226C>T	ENST00000295321.4	-	13	2490	c.2231G>A	c.(2230-2232)gGa>gAa	p.G744E	AC010976.2_ENST00000596439.1_RNA|AC010976.2_ENST00000598065.1_RNA|AC010976.2_ENST00000599001.1_RNA|AC010976.2_ENST00000454503.2_RNA|AC010976.2_ENST00000595561.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	744	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)		TCCAGGATCTCCAGGTCTAAG	0.507																																						uc002ton.2		NA																	0				ovary(1)	1						c.(2230-2232)GGA>GAA		IWS1 homolog							86.0	81.0	83.0					2																	128244226		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128244226C>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.2231G>A	2.37:g.128244226C>T	ENSP00000295321:p.Gly744Glu						p.G744E	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	13	2534	-	Colorectal(110;0.1)		744					Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.2231G>A	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897162	0.91962	.	.	ENSG00000163166	ENST00000295321;ENST00000433551	T	0.41065	1.01	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.69342	0.3100	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71407	-0.4602	9	.	.	.	-20.0058	19.4647	0.94932	0.0:1.0:0.0:0.0	.	744	Q96ST2	IWS1_HUMAN	E	744;697	ENSP00000295321:G744E	.	G	-	2	0	IWS1	127960696	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.592000	0.87571	0.655000	0.94253	GGA		0.507	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		5	52	0	0	0	0	5	52				
IWS1	55677	broad.mit.edu	37	2	128263073	128263073	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:128263073C>G	ENST00000295321.4	-	3	665	c.406G>C	c.(406-408)Gag>Cag	p.E136Q	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Missense_Mutation_p.E143Q	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	136	Glu-rich.				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)		AGAAGTTCCTCATTTTCAGAG	0.483																																						uc002ton.2		NA																	0				ovary(1)	1						c.(406-408)GAG>CAG		IWS1 homolog							104.0	108.0	107.0					2																	128263073		2203	4300	6503	SO:0001583	missense	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128263073C>G	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.406G>C	2.37:g.128263073C>G	ENSP00000295321:p.Glu136Gln					IWS1_uc010yzl.1_RNA|IWS1_uc010fma.2_RNA	p.E136Q	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	709	-	Colorectal(110;0.1)		136			Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Missense_Mutation	SNP	ENST00000295321.4	37	c.406G>C	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.913107	0.33815	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721;ENST00000409725	T;T	0.35789	1.29;1.29	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000004	T	0.59609	0.2206	M	0.65975	2.015	0.41558	D	0.98861	D	0.89917	1.0	D	0.71184	0.972	T	0.59663	-0.7412	10	0.46703	T	0.11	-13.7571	18.9857	0.92769	0.0:1.0:0.0:0.0	.	136	Q96ST2	IWS1_HUMAN	Q	136;89;143;141	ENSP00000295321:E136Q;ENSP00000399245:E143Q	ENSP00000295321:E136Q	E	-	1	0	IWS1	127979543	0.997000	0.39634	0.974000	0.42286	0.203000	0.24098	4.045000	0.57368	2.472000	0.83506	0.591000	0.81541	GAG		0.483	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		22	174	0	0	0	0	22	174				
MBD5	55777	broad.mit.edu	37	2	149247786	149247786	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:149247786C>T	ENST00000407073.1	+	12	4883	c.3886C>T	c.(3886-3888)Cga>Tga	p.R1296*	MBD5_ENST00000404807.1_Nonsense_Mutation_p.R1529*	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1296					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GAATAGACCTCGACAGAGTCG	0.413																																						uc002twm.3		NA																	0				skin(3)|ovary(2)	5						c.(3886-3888)CGA>TGA		methyl-CpG binding domain protein 5							60.0	61.0	61.0					2																	149247786		2203	4300	6503	SO:0001587	stop_gained	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149247786C>T	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3886C>T	2.37:g.149247786C>T	ENSP00000386049:p.Arg1296*					MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Nonsense_Mutation_p.R1296*|MBD5_uc002two.2_Nonsense_Mutation_p.R554*|MBD5_uc002twp.2_Nonsense_Mutation_p.R346*	p.R1296*	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	12	4874	+			1296					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Nonsense_Mutation	SNP	ENST00000407073.1	37	c.3886C>T	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	C	50	16.371514	0.99861	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	.	.	.	5.89	4.05	0.47172	.	0.425905	0.19841	N	0.104849	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0701	10.9014	0.47054	0.1311:0.8016:0.0:0.0673	.	.	.	.	X	1296;1529	.	ENSP00000384672:R1529X	R	+	1	2	MBD5	148964256	1.000000	0.71417	0.969000	0.41365	0.978000	0.69477	3.463000	0.53050	0.791000	0.33826	0.655000	0.94253	CGA		0.413	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			6	44	0	0	0	0	6	44				
MARCH7	64844	broad.mit.edu	37	2	160605112	160605112	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:160605112G>C	ENST00000259050.4	+	5	1433	c.1311G>C	c.(1309-1311)caG>caC	p.Q437H	MARCH7_ENST00000539065.1_Missense_Mutation_p.Q381H|MARCH7_ENST00000409175.1_Missense_Mutation_p.Q437H|MARCH7_ENST00000409591.1_Missense_Mutation_p.Q399H	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	437					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TTGAAGCACAGAATGATCCTC	0.448																																						uc002uax.2		NA																	0					0						c.(1309-1311)CAG>CAC		axotrophin							88.0	90.0	89.0					2																	160605112		2203	4300	6503	SO:0001583	missense	64844						ligase activity|zinc ion binding	g.chr2:160605112G>C	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.1311G>C	2.37:g.160605112G>C	ENSP00000259050:p.Gln437His					MARCH7_uc010foq.2_Missense_Mutation_p.Q437H|MARCH7_uc010zcn.1_Missense_Mutation_p.Q381H|MARCH7_uc010for.2_Missense_Mutation_p.Q399H|MARCH7_uc002uay.2_RNA	p.Q437H	NM_022826	NP_073737	Q9H992	MARH7_HUMAN			5	1433	+			437					A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Missense_Mutation	SNP	ENST00000259050.4	37	c.1311G>C	CCDS2210.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.948884	0.53186	.	.	ENSG00000136536	ENST00000409175;ENST00000539065;ENST00000259050;ENST00000409591	T;T;T;T	0.13778	2.56;2.57;2.56;2.56	5.59	2.4	0.29515	.	0.245962	0.39341	N	0.001386	T	0.20007	0.0481	L	0.54323	1.7	0.24761	N	0.992924	P;D;D	0.62365	0.892;0.991;0.991	P;P;P	0.55161	0.542;0.77;0.77	T	0.04255	-1.0965	10	0.72032	D	0.01	-16.0496	5.3177	0.15864	0.5756:0.0:0.4244:0.0	.	381;399;437	F5H6W4;B7Z7P5;Q9H992	.;.;MARH7_HUMAN	H	437;381;437;399	ENSP00000386830:Q437H;ENSP00000442992:Q381H;ENSP00000259050:Q437H;ENSP00000387238:Q399H	ENSP00000259050:Q437H	Q	+	3	2	MARCH7	160313358	0.995000	0.38212	0.998000	0.56505	0.990000	0.78478	0.448000	0.21726	0.703000	0.31848	0.655000	0.94253	CAG		0.448	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		5	147	0	0	0	0	5	147				
SCN9A	6335	broad.mit.edu	37	2	167141152	167141152	+	Silent	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:167141152C>T	ENST00000409435.1	-	11	1784	c.1785G>A	c.(1783-1785)caG>caA	p.Q595Q	SCN9A_ENST00000375387.4_Silent_p.Q596Q|SCN9A_ENST00000409672.1_Silent_p.Q595Q|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.Q596Q			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	595					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.Q595Q(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCGTCGCTCCTGGGGTCTGT	0.537																																						uc010fpl.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(6)|central_nervous_system(5)|skin(2)	13						c.(1783-1785)CAG>CAA		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						99.0	105.0	103.0					2																	167141152		2139	4259	6398	SO:0001819	synonymous_variant	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167141152C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1785G>A	2.37:g.167141152C>T						uc002udp.2_Intron|SCN9A_uc002udr.1_Silent_p.Q466Q|SCN9A_uc002uds.1_Silent_p.Q466Q|SCN9A_uc002udt.1_Silent_p.Q466Q	p.Q595Q	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			12	2126	-			595					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	ENST00000409435.1	37	c.1785G>A	CCDS46441.1																																																																																				0.537	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		17	75	0	0	0	0	17	75				
HOXD3	3232	broad.mit.edu	37	2	177036256	177036256	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:177036256G>A	ENST00000468418.3	+	4	2643	c.553G>A	c.(553-555)Gag>Aag	p.E185K	HOXD3_ENST00000249440.3_Missense_Mutation_p.E185K|HOXD3_ENST00000410016.1_Missense_Mutation_p.E185K|HOXD-AS1_ENST00000416928.2_RNA			P31249	HXD3_HUMAN	homeobox D3	185					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		AGAGAGCTGCGAGGACAAGAG	0.627																																						uc002ukt.1		NA																	0					0						c.(553-555)GAG>AAG		homeobox D3							24.0	28.0	26.0					2																	177036256		2203	4300	6503	SO:0001583	missense	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177036256G>A		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.553G>A	2.37:g.177036256G>A	ENSP00000424734:p.Glu185Lys						p.E185K	NM_006898	NP_008829	P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	3	729	+			185					Q99955|Q9BSC5	Missense_Mutation	SNP	ENST00000468418.3	37	c.553G>A	CCDS2270.1	.	.	.	.	.	.	.	.	.	.	g	11.57	1.676929	0.29783	.	.	ENSG00000128652	ENST00000468418;ENST00000410016;ENST00000249440	D;D;D	0.95690	-3.78;-3.78;-3.78	5.33	4.43	0.53597	Homeodomain-related (1);Homeodomain-like (1);	0.345242	0.33419	N	0.004934	D	0.91751	0.7391	L	0.55481	1.735	0.43994	D	0.996695	P	0.36768	0.569	B	0.25291	0.059	D	0.89655	0.3872	10	0.18710	T	0.47	.	15.4979	0.75669	0.0:0.1393:0.8607:0.0	.	185	P31249	HXD3_HUMAN	K	185	ENSP00000424734:E185K;ENSP00000386498:E185K;ENSP00000249440:E185K	ENSP00000249440:E185K	E	+	1	0	HOXD3	176744502	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.393000	0.97256	1.199000	0.43173	0.550000	0.68814	GAG		0.627	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			5	33	0	0	0	0	5	33				
SSFA2	6744	broad.mit.edu	37	2	182765561	182765561	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:182765561A>G	ENST00000431877.2	+	7	821	c.642A>G	c.(640-642)atA>atG	p.I214M	SSFA2_ENST00000409001.1_Missense_Mutation_p.I214M|SSFA2_ENST00000428267.2_Missense_Mutation_p.I61M|SSFA2_ENST00000320370.7_Missense_Mutation_p.I214M	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	214						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.I214M(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			CCAAAGGGATAGATATTAAAG	0.308																																						uc002uoi.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	breast(1)|central_nervous_system(1)	2						c.(640-642)ATA>ATG		sperm specific antigen 2 isoform 1							61.0	63.0	63.0					2																	182765561		2203	4299	6502	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182765561A>G	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.642A>G	2.37:g.182765561A>G	ENSP00000388731:p.Ile214Met					SSFA2_uc002uoh.2_Missense_Mutation_p.I214M|SSFA2_uc002uoj.2_Missense_Mutation_p.I214M|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.I61M|SSFA2_uc002uol.2_Missense_Mutation_p.I61M	p.I214M	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		7	964	+			214					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.642A>G	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.123455	0.77436	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	T;T;T;T	0.32988	1.67;1.43;1.65;1.51	5.97	4.76	0.60689	.	0.139012	0.64402	D	0.000006	T	0.54515	0.1863	M	0.76002	2.32	0.53688	D	0.999977	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.59134	-0.7511	10	0.87932	D	0	-22.8042	12.9473	0.58379	0.8651:0.1349:0.0:0.0	.	61;214;214;214	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	M	214;214;214;61	ENSP00000388731:I214M;ENSP00000314669:I214M;ENSP00000387319:I214M;ENSP00000409867:I61M	ENSP00000314669:I214M	I	+	3	3	SSFA2	182473806	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.242000	0.43106	2.288000	0.76882	0.533000	0.62120	ATA		0.308	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		20	71	0	0	0	0	20	71				
ITGAV	3685	broad.mit.edu	37	2	187455218	187455218	+	Silent	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:187455218C>T	ENST00000261023.3	+	1	427	c.153C>T	c.(151-153)ttC>ttT	p.F51F	ITGAV_ENST00000374907.3_Silent_p.F51F	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	51					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.F51F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	ACTTCGGCTTCGCCGTGGATT	0.637																																					Melanoma(58;108 1995 6081)	uc002upq.2		NA																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|kidney(1)|skin(1)	4						c.(151-153)TTC>TTT		integrin alpha-V isoform 1 precursor							33.0	39.0	37.0					2																	187455218		2203	4300	6503	SO:0001819	synonymous_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187455218C>T		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.153C>T	2.37:g.187455218C>T						ITGAV_uc010frs.2_Silent_p.F51F	p.F51F	NM_002210	NP_002201	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	1	429	+			51			FG-GAP 1.|Extracellular (Potential).		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	ENST00000261023.3	37	c.153C>T	CCDS2292.1																																																																																				0.637	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		15	50	0	0	0	0	15	50				
DNAH7	56171	broad.mit.edu	37	2	196822095	196822095	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:196822095G>C	ENST00000312428.6	-	19	3068	c.2968C>G	c.(2968-2970)Ctg>Gtg	p.L990V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	990	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGGGCTCCAGATACAGCCAC	0.483																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(2968-2970)CTG>GTG		dynein, axonemal, heavy chain 7							78.0	74.0	76.0					2																	196822095		1890	4131	6021	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196822095G>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2968C>G	2.37:g.196822095G>C	ENSP00000311273:p.Leu990Val						p.L990V	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			19	3069	-			990			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.2968C>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691430	0.68271	.	.	ENSG00000118997	ENST00000312428	T	0.81163	-1.46	5.43	-1.67	0.08238	Dynein heavy chain, domain-2 (1);	0.000000	0.64402	D	0.000001	D	0.92737	0.7691	H	0.99565	4.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91363	0.5113	10	0.87932	D	0	.	10.3909	0.44168	0.6054:0.0:0.3946:0.0	.	990	Q8WXX0	DYH7_HUMAN	V	990	ENSP00000311273:L990V	ENSP00000311273:L990V	L	-	1	2	DNAH7	196530340	1.000000	0.71417	0.947000	0.38551	0.927000	0.56198	2.949000	0.49074	-0.207000	0.10187	0.561000	0.74099	CTG		0.483	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		4	105	0	0	0	0	4	105				
SATB2	23314	broad.mit.edu	37	2	200246428	200246428	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:200246428G>C	ENST00000417098.1	-	4	1278	c.462C>G	c.(460-462)atC>atG	p.I154M	SATB2_ENST00000260926.5_Missense_Mutation_p.I154M|SATB2_ENST00000484124.1_5'UTR|SATB2_ENST00000428695.1_Intron|SATB2_ENST00000457245.1_Missense_Mutation_p.I154M|SATB2_ENST00000443023.1_Missense_Mutation_p.I95M	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	154					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTTGTAATTGGATTTTCAACG	0.473																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1		NA																	0				ovary(1)	1						c.(460-462)ATC>ATG		SATB homeobox 2							150.0	143.0	145.0					2																	200246428		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200246428G>C	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.462C>G	2.37:g.200246428G>C	ENSP00000401112:p.Ile154Met					SATB2_uc010fsq.1_Intron|SATB2_uc002uuz.1_Missense_Mutation_p.I154M|SATB2_uc002uva.1_Missense_Mutation_p.I154M	p.I154M	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			4	1279	-			154					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.462C>G	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939401	0.52972	.	.	ENSG00000119042	ENST00000417098;ENST00000443023;ENST00000260926;ENST00000457245	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.61	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.85669	0.5750	M	0.70595	2.14	0.44155	D	0.996957	D	0.76494	0.999	D	0.70487	0.969	D	0.86762	0.1967	10	0.87932	D	0	-17.8472	11.4543	0.50171	0.144:0.0:0.856:0.0	.	154	Q9UPW6	SATB2_HUMAN	M	154;95;154;154	ENSP00000401112:I154M;ENSP00000388764:I95M;ENSP00000260926:I154M;ENSP00000405420:I154M	ENSP00000260926:I154M	I	-	3	3	SATB2	199954673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.067000	0.57527	1.366000	0.46076	0.655000	0.94253	ATC		0.473	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		5	137	0	0	0	0	5	137				
TYW5	129450	broad.mit.edu	37	2	200801155	200801155	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:200801155G>C	ENST00000354611.4	-	6	812	c.547C>G	c.(547-549)Cga>Gga	p.R183G	C2orf69_ENST00000491721.1_Intron|TYW5_ENST00000452512.2_5'UTR	NM_001039693.2	NP_001034782.1	A2RUC4	TYW5_HUMAN	tRNA-yW synthesizing protein 5	183	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				wybutosine biosynthetic process (GO:0031591)		iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						TGGGCATCTCGAGGACTGAAG	0.299																																						uc002uvi.3		NA																	0					0						c.(547-549)CGA>GGA		hypothetical protein LOC129450							134.0	131.0	132.0					2																	200801155		1811	4074	5885	SO:0001583	missense	129450				wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding	g.chr2:200801155G>C	AK095272	CCDS42795.1	2q33.1	2011-05-09	2011-05-09	2011-05-09	ENSG00000162971	ENSG00000162971			26754	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 60"""	C2orf60		20739293	Standard	NM_001039693		Approved	FLJ37953	uc002uvi.4	A2RUC4	OTTHUMG00000132770	ENST00000354611.4:c.547C>G	2.37:g.200801155G>C	ENSP00000346627:p.Arg183Gly					C2orf60_uc002uvj.3_Missense_Mutation_p.R20G|C2orf60_uc002uvk.3_Intron|C2orf60_uc010fss.2_Missense_Mutation_p.R20G	p.R183G	NM_001039693	NP_001034782	A2RUC4	TYW5_HUMAN			6	813	-			183			JmjC.		B2RNE3|Q8N1R2	Missense_Mutation	SNP	ENST00000354611.4	37	c.547C>G	CCDS42795.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235413	0.39498	.	.	ENSG00000162971	ENST00000354611	T	0.70164	-0.46	5.92	5.04	0.67666	Cupin, JmjC-type (1);Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.163746	0.42964	D	0.000638	T	0.54532	0.1864	L	0.39467	1.215	0.49915	D	0.999833	P	0.46578	0.88	B	0.34418	0.182	T	0.55704	-0.8099	10	0.31617	T	0.26	-6.7596	16.5988	0.84804	0.0:0.0:0.8687:0.1313	.	183	A2RUC4	TYW5_HUMAN	G	183	ENSP00000346627:R183G	ENSP00000346627:R183G	R	-	1	2	TYW5	200509400	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.038000	0.70964	1.488000	0.48433	-0.175000	0.13238	CGA		0.299	TYW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256144.3	NM_001039693		6	213	0	0	0	0	6	213				
CLK1	1195	broad.mit.edu	37	2	201726073	201726073	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:201726073T>A	ENST00000321356.4	-	3	413	c.278A>T	c.(277-279)cAt>cTt	p.H93L	CLK1_ENST00000434813.2_Missense_Mutation_p.H135L|Y_RNA_ENST00000516950.1_RNA|CLK1_ENST00000492793.1_5'UTR	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	93					cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.H93L(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CCGGCTTTCATGGTCTCTTTG	0.408																																						uc002uwe.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	pancreas(2)	2						c.(277-279)CAT>CTT		CDC-like kinase 1 isoform 1							171.0	169.0	170.0					2																	201726073		2203	4300	6503	SO:0001583	missense	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201726073T>A	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.278A>T	2.37:g.201726073T>A	ENSP00000326830:p.His93Leu					CLK1_uc010zhi.1_Missense_Mutation_p.H135L|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_5'UTR|CLK1_uc010fsv.2_RNA	p.H93L	NM_004071	NP_004062	P49759	CLK1_HUMAN			3	459	-			93					B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.278A>T	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	T	2.121	-0.401455	0.04865	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000434813	T;T	0.66638	-0.2;-0.22	4.66	2.15	0.27550	.	0.484872	0.21911	N	0.067312	T	0.46171	0.1379	L	0.29908	0.895	0.22803	N	0.998712	B;B	0.18461	0.028;0.024	B;B	0.13407	0.009;0.008	T	0.21518	-1.0243	10	0.13470	T	0.59	.	6.0627	0.19846	0.0:0.0867:0.3305:0.5827	.	135;93	B4DFW7;P49759	.;CLK1_HUMAN	L	93;93;135	ENSP00000326830:H93L;ENSP00000394734:H135L	ENSP00000326830:H93L	H	-	2	0	CLK1	201434318	0.897000	0.30589	0.968000	0.41197	0.578000	0.36192	2.621000	0.46418	0.222000	0.20900	-0.321000	0.08615	CAT		0.408	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			68	226	0	0	0	0	68	226				
TTLL4	9654	broad.mit.edu	37	2	219602407	219602407	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:219602407C>T	ENST00000392102.1	+	3	348	c.8C>T	c.(7-9)tCa>tTa	p.S3L	TTLL4_ENST00000457313.1_Intron|TTLL4_ENST00000258398.4_Missense_Mutation_p.S3L|TTLL4_ENST00000442769.1_Missense_Mutation_p.S3L	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	3					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CTCATGGCCTCAGCAGGAACA	0.572																																					GBM(172;1818 2053 15407 20943 49753)	uc002viy.2		NA																	0				ovary(2)|skin(1)	3						c.(7-9)TCA>TTA		tubulin tyrosine ligase-like family, member 4							53.0	52.0	52.0					2																	219602407		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219602407C>T		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.8C>T	2.37:g.219602407C>T	ENSP00000375951:p.Ser3Leu					TTLL4_uc010zkl.1_Intron|TTLL4_uc010fvx.2_Missense_Mutation_p.S3L	p.S3L	NM_014640	NP_055455	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	3	378	+		Renal(207;0.0915)	3					A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.8C>T	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302460	0.60195	.	.	ENSG00000135912	ENST00000415717;ENST00000392102;ENST00000437755;ENST00000442769;ENST00000424644;ENST00000258398	T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93	5.53	5.53	0.82687	.	0.325060	0.22480	N	0.059517	T	0.41903	0.1179	L	0.34521	1.04	0.36882	D	0.889453	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.991	T	0.46105	-0.9215	10	0.87932	D	0	.	16.6153	0.84909	0.0:1.0:0.0:0.0	.	3;3	E7EX20;Q14679	.;TTLL4_HUMAN	L	3	ENSP00000411228:S3L;ENSP00000375951:S3L;ENSP00000391342:S3L;ENSP00000396555:S3L;ENSP00000405485:S3L;ENSP00000258398:S3L	ENSP00000258398:S3L	S	+	2	0	TTLL4	219310651	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	4.496000	0.60360	2.601000	0.87937	0.563000	0.77884	TCA		0.572	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		8	71	0	0	0	0	8	71				
SPHKAP	80309	broad.mit.edu	37	2	228881860	228881860	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:228881860G>A	ENST00000392056.3	-	7	3756	c.3710C>T	c.(3709-3711)tCg>tTg	p.S1237L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1237L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1237						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.S1237L(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGGCATGGACGACTGTCTGTG	0.562																																						uc002vpq.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	skin(5)|ovary(4)|lung(1)	10						c.(3709-3711)TCG>TTG		sphingosine kinase type 1-interacting protein							70.0	69.0	69.0					2																	228881860		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881860G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3710C>T	2.37:g.228881860G>A	ENSP00000375909:p.Ser1237Leu					SPHKAP_uc002vpp.2_Missense_Mutation_p.S1237L|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1237L	p.S1237L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3757	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1237					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3710C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	13.90	2.374911	0.42105	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.40756	1.02;1.02	5.87	4.89	0.63831	.	0.107611	0.64402	D	0.000004	T	0.56790	0.2009	M	0.69823	2.125	0.58432	D	0.999991	D;D;D	0.89917	0.998;0.998;1.0	P;P;D	0.64410	0.755;0.774;0.925	T	0.49331	-0.8951	10	0.16420	T	0.52	.	12.3365	0.55071	0.1093:0.0:0.8907:0.0	.	268;1237;1237	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	L	1237	ENSP00000375909:S1237L;ENSP00000339886:S1237L	ENSP00000339886:S1237L	S	-	2	0	SPHKAP	228590104	1.000000	0.71417	0.970000	0.41538	0.241000	0.25554	6.049000	0.71053	2.785000	0.95823	0.655000	0.94253	TCG		0.562	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		29	133	0	0	0	0	29	133				
C20orf194	25943	broad.mit.edu	37	20	3321254	3321254	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr20:3321254T>C	ENST00000252032.9	-	10	945	c.878A>G	c.(877-879)aAt>aGt	p.N293S	C20orf194_ENST00000453730.2_Missense_Mutation_p.N32S	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	293										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGTGGAGTGATTACCAAAGAG	0.493																																						uc002wii.2		NA																	0					0						c.(877-879)AAT>AGT		hypothetical protein LOC25943							93.0	90.0	91.0					20																	3321254		1885	4118	6003	SO:0001583	missense	25943							g.chr20:3321254T>C	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.878A>G	20.37:g.3321254T>C	ENSP00000252032:p.Asn293Ser					C20orf194_uc002wij.3_Missense_Mutation_p.N32S|C20orf194_uc002wik.2_5'UTR|C20orf194_uc010gay.1_RNA	p.N293S	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN			10	929	-			293					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.878A>G	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	T	8.020	0.759456	0.15846	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	T;T	0.31510	2.28;1.49	5.9	1.91	0.25777	.	0.322570	0.32258	N	0.006358	T	0.10252	0.0251	N	0.03115	-0.41	0.26830	N	0.968599	B;B	0.16396	0.005;0.017	B;B	0.12837	0.007;0.008	T	0.31971	-0.9924	10	0.10111	T	0.7	.	5.9626	0.19308	0.0:0.1872:0.3832:0.4296	.	32;293	Q0IIP3;Q5TEA3	.;CT194_HUMAN	S	293;32	ENSP00000252032:N293S;ENSP00000407229:N32S	ENSP00000252032:N293S	N	-	2	0	C20orf194	3269254	0.989000	0.36119	1.000000	0.80357	0.996000	0.88848	0.195000	0.17155	0.460000	0.27045	0.460000	0.39030	AAT		0.493	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		8	44	0	0	0	0	8	44				
FAM83C	128876	broad.mit.edu	37	20	33876620	33876620	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr20:33876620T>C	ENST00000374408.3	-	2	751	c.655A>G	c.(655-657)Atg>Gtg	p.M219V		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	219								p.M219V(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TTGAGGTCCATCTTGTAGCAC	0.642																																						uc010zux.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(655-657)ATG>GTG		hypothetical protein LOC128876							59.0	50.0	53.0					20																	33876620		2203	4300	6503	SO:0001583	missense	128876							g.chr20:33876620T>C	AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.655A>G	20.37:g.33876620T>C	ENSP00000363529:p.Met219Val					FAM83C_uc002xcb.1_Missense_Mutation_p.M43V	p.M219V	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		2	773	-			219					Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	c.655A>G	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	T	13.68	2.309281	0.40895	.	.	ENSG00000125998	ENST00000374408	T	0.13307	2.6	4.32	4.32	0.51571	.	0.068498	0.64402	D	0.000009	T	0.08537	0.0212	N	0.08118	0	0.43187	D	0.995012	P	0.35684	0.515	B	0.40636	0.335	T	0.34675	-0.9819	10	0.36615	T	0.2	-3.9927	9.4577	0.38764	0.0:0.0:0.1785:0.8215	.	219	Q9BQN1	FA83C_HUMAN	V	219	ENSP00000363529:M219V	ENSP00000363529:M219V	M	-	1	0	FAM83C	33340034	1.000000	0.71417	1.000000	0.80357	0.235000	0.25334	4.373000	0.59537	1.946000	0.56461	0.482000	0.46254	ATG		0.642	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			8	61	0	0	0	0	8	61				
CEP250	11190	broad.mit.edu	37	20	34054812	34054812	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr20:34054812G>A	ENST00000397527.1	+	8	1234	c.514G>A	c.(514-516)Ggg>Agg	p.G172R	CEP250_ENST00000342580.4_Missense_Mutation_p.G172R|CEP250_ENST00000397524.1_Missense_Mutation_p.G172R	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	172					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTACCTGAAAGGGGAGCACGG	0.527																																						uc002xcm.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(514-516)GGG>AGG		centrosomal protein 2							89.0	80.0	83.0					20																	34054812		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34054812G>A	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.514G>A	20.37:g.34054812G>A	ENSP00000380661:p.Gly172Arg					CEP250_uc010zve.1_5'UTR|CEP250_uc010gfe.1_RNA|CEP250_uc010zvd.1_RNA|CEP250_uc002xco.2_5'UTR	p.G172R	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		9	1185	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		172					E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.514G>A	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320397	0.81469	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	T;T;T;T	0.41065	2.94;3.0;1.01;2.01	6.03	6.03	0.97812	.	0.206622	0.33938	N	0.004407	T	0.62962	0.2471	L	0.58669	1.825	0.39940	D	0.9744	D	0.89917	1.0	D	0.81914	0.995	T	0.62534	-0.6834	10	0.59425	D	0.04	.	18.4139	0.90562	0.0:0.0:1.0:0.0	.	172	Q9BV73	CP250_HUMAN	R	172	ENSP00000380661:G172R;ENSP00000341541:G172R;ENSP00000380658:G172R;ENSP00000413827:G172R	ENSP00000341541:G172R	G	+	1	0	CEP250	33518226	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.994000	0.56994	2.881000	0.98747	0.644000	0.83932	GGG		0.527	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		23	98	0	0	0	0	23	98				
CHAF1B	8208	broad.mit.edu	37	21	37783871	37783871	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr21:37783871A>T	ENST00000314103.5	+	11	1181	c.1030A>T	c.(1030-1032)Ata>Tta	p.I344L		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	344					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CGTGTCTAATATACATTACCA	0.537																																						uc002yvj.2		NA																	0				ovary(1)|skin(1)	2						c.(1030-1032)ATA>TTA		chromatin assembly factor 1 subunit B							210.0	184.0	193.0					21																	37783871		2203	4300	6503	SO:0001583	missense	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37783871A>T	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.1030A>T	21.37:g.37783871A>T	ENSP00000315700:p.Ile344Leu						p.I344L	NM_005441	NP_005432	Q13112	CAF1B_HUMAN			11	1168	+			344			WD 7.		Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	c.1030A>T	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.757409	0.69648	.	.	ENSG00000159259	ENST00000314103	T	0.64803	-0.12	5.31	5.31	0.75309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.048485	0.85682	D	0.000000	T	0.56108	0.1963	N	0.17594	0.5	0.58432	D	0.999999	P	0.52692	0.955	D	0.63033	0.91	T	0.55742	-0.8093	10	0.05833	T	0.94	-22.1736	9.7471	0.40453	0.9229:0.0:0.0771:0.0	.	344	Q13112	CAF1B_HUMAN	L	344	ENSP00000315700:I344L	ENSP00000315700:I344L	I	+	1	0	CHAF1B	36705741	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	5.937000	0.70162	2.007000	0.58848	0.460000	0.39030	ATA		0.537	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		61	229	0	0	0	0	61	229				
BAP1	8314	broad.mit.edu	37	3	52437288	52437288	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:52437288T>G	ENST00000460680.1	-	14	2227	c.1756A>C	c.(1756-1758)Atc>Ctc	p.I586L	BAP1_ENST00000296288.5_Missense_Mutation_p.I568L	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		ATTGGTCTGATGGAGGGCGAG	0.597			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	uc003ddx.2		NA		Rec	yes		3	3p21.31-p21.2	8314	N|Mis|F|S|O	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E			uveal melanoma|breast|NSCLC		0				pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65						c.(1756-1758)ATC>CTC		BRCA1 associated protein-1							83.0	77.0	79.0					3																	52437288		2203	4300	6503	SO:0001583	missense	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52437288T>G	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1756A>C	3.37:g.52437288T>G	ENSP00000417132:p.Ile586Leu					BAP1_uc003ddw.2_RNA|BAP1_uc010hmg.2_RNA|BAP1_uc010hmh.2_Intron	p.I586L	NM_004656	NP_004647	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	14	1871	-			586					B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	c.1756A>C	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	T	3.221	-0.159593	0.06544	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000478368	T;T;T	0.47528	0.84;0.84;0.84	5.94	-0.894	0.10563	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);	0.839676	0.11164	N	0.592736	T	0.24122	0.0584	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28073	-1.0055	10	0.07030	T	0.85	.	5.9923	0.19474	0.0:0.2655:0.1243:0.6102	.	586	Q92560	BAP1_HUMAN	L	586;568;87	ENSP00000417132:I586L;ENSP00000296288:I568L;ENSP00000420647:I87L	ENSP00000296288:I568L	I	-	1	0	BAP1	52412328	0.193000	0.23313	0.064000	0.19789	0.666000	0.39218	0.403000	0.20982	-0.363000	0.08101	-0.264000	0.10439	ATC		0.597	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			17	36	0	0	0	0	17	36				
ARL13B	200894	broad.mit.edu	37	3	93714788	93714788	+	Splice_Site	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:93714788G>A	ENST00000394222.3	+	2	405	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	ARL13B_ENST00000486562.1_3'UTR|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000471138.1_Splice_Site_p.E44K|ARL13B_ENST00000535334.1_Intron	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	44					cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						AATCCAAGGAGGTAAGCTGAA	0.299																																						uc003drc.2		NA																	0					0						c.(130-132)GAA>AAA		ADP-ribosylation factor-like 2-like 1 isoform 1							60.0	67.0	65.0					3																	93714788		2203	4300	6503	SO:0001630	splice_region_variant	200894						GTP binding	g.chr3:93714788G>A	AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25419	protein-coding gene	gene with protein product		608922	"""ADP-ribosylation factor-like 2-like 1"""	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.130+1G>A	3.37:g.93714788G>A						ARL13B_uc010hop.2_Silent_p.E13E|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_5'UTR|ARL13B_uc003drf.2_Missense_Mutation_p.E44K|ARL13B_uc003drg.2_Intron	p.E44K	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN			2	416	+			44					D3DN29|G3V1S8|Q504W8|Q8TCL5	Missense_Mutation	SNP	ENST00000394222.3	37	c.130G>A	CCDS2925.1	.	.	.	.	.	.	.	.	.	.	G	36	5.747626	0.96882	.	.	ENSG00000169379	ENST00000478400;ENST00000394222;ENST00000471138	T;T;T	0.63580	3.49;-0.05;-0.05	5.64	5.64	0.86602	Small GTP-binding protein domain (1);	0.109275	0.64402	N	0.000009	T	0.64681	0.2620	M	0.62154	1.92	0.80722	D	1	B	0.10296	0.003	B	0.20577	0.03	T	0.61362	-0.7078	10	0.59425	D	0.04	-20.7202	19.7036	0.96065	0.0:0.0:1.0:0.0	.	44	Q3SXY8	AR13B_HUMAN	K	19;44;44	ENSP00000417702:E19K;ENSP00000377769:E44K;ENSP00000420780:E44K	ENSP00000335400:E44K	E	+	1	0	ARL13B	95197478	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.828000	0.99408	2.660000	0.90430	0.655000	0.94253	GAG;GAA;GAA		0.299	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1	NM_182896	Missense_Mutation	16	28	0	0	0	0	16	28				
STX19	415117	broad.mit.edu	37	3	93733390	93733390	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:93733390C>T	ENST00000315099.2	-	2	980	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000394222.3_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	242	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TCTCCTTGTTCCTCTACTAAA	0.318																																						uc003drh.1		NA																	0					0						c.(724-726)GAA>AAA		syntaxin 19							69.0	67.0	68.0					3																	93733390		2201	4298	6499	SO:0001583	missense	415117				intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity	g.chr3:93733390C>T	AF461456	CCDS33793.1	3q11	2005-12-30			ENSG00000178750	ENSG00000178750			19300	protein-coding gene	gene with protein product							Standard	NM_001001850		Approved	MGC21382	uc003drh.1	Q8N4C7	OTTHUMG00000159013	ENST00000315099.2:c.724G>A	3.37:g.93733390C>T	ENSP00000320679:p.Glu242Lys					ARL13B_uc003drc.2_Intron|ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Intron|ARL13B_uc003drf.2_Intron|ARL13B_uc003drg.2_Intron	p.E242K	NM_001001850	NP_001001850	Q8N4C7	STX19_HUMAN			2	981	-			242			t-SNARE coiled-coil homology.			Missense_Mutation	SNP	ENST00000315099.2	37	c.724G>A	CCDS33793.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.098253	0.76870	.	.	ENSG00000178750	ENST00000315099	T	0.28454	1.61	4.71	4.71	0.59529	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.53899	-0.8373	10	0.15066	T	0.55	-1.7773	18.5999	0.91246	0.0:1.0:0.0:0.0	.	242	Q8N4C7	STX19_HUMAN	K	242	ENSP00000320679:E242K	ENSP00000320679:E242K	E	-	1	0	STX19	95216080	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	5.743000	0.68655	2.573000	0.86826	0.650000	0.86243	GAA		0.318	STX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352909.1	NM_001001850		6	56	0	0	0	0	6	56				
BBX	56987	broad.mit.edu	37	3	107517519	107517519	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:107517519C>T	ENST00000325805.8	+	16	2790	c.2503C>T	c.(2503-2505)Ctt>Ttt	p.L835F	BBX_ENST00000415149.2_Missense_Mutation_p.L805F|BBX_ENST00000406780.1_Missense_Mutation_p.L805F|BBX_ENST00000416476.2_Silent_p.T498T|BBX_ENST00000402543.1_Missense_Mutation_p.L785F			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	835					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GATTACACACCTTGTCAGGAC	0.473																																						uc010hpr.2		NA																	0				ovary(3)|skin(1)	4						c.(2503-2505)CTT>TTT		HMG-BOX transcription factor BBX isoform 1							96.0	94.0	95.0					3																	107517519		2203	4300	6503	SO:0001583	missense	56987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr3:107517519C>T	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.2503C>T	3.37:g.107517519C>T	ENSP00000319974:p.Leu835Phe					BBX_uc003dwk.3_Missense_Mutation_p.L805F|BBX_uc003dwl.3_Silent_p.T498T|BBX_uc003dwm.3_Missense_Mutation_p.L805F|BBX_uc003dwo.3_Silent_p.T154T	p.L835F	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.112)		16	2830	+			835					A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	ENST00000325805.8	37	c.2503C>T	CCDS46881.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038307	0.93630	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780;ENST00000458347	T;D;T;T	0.99523	1.13;-6.08;1.38;1.13	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.99202	0.9723	L	0.34521	1.04	0.53688	D	0.999978	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	D	0.99921	1.1252	10	0.87932	D	0	-9.5211	20.4008	0.98991	0.0:1.0:0.0:0.0	.	835;805	Q8WY36;Q8WY36-2	BBX_HUMAN;.	F	805;785;835;805;28	ENSP00000408358:L805F;ENSP00000385317:L785F;ENSP00000319974:L835F;ENSP00000385530:L805F	ENSP00000319974:L835F	L	+	1	0	BBX	109000209	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.678000	0.54627	2.826000	0.97356	0.655000	0.94253	CTT		0.473	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317820.1	NM_020235		3	70	0	0	0	0	3	70				
LSAMP	4045	broad.mit.edu	37	3	115529219	115529219	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:115529219G>A	ENST00000490035.2	-	7	1461	c.962C>T	c.(961-963)gCc>gTc	p.A321V	LSAMP_ENST00000539563.1_Missense_Mutation_p.A341V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	321					cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.A321V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CAGTGGTACGGCCAGACTGAT	0.423																																						uc003ebt.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(961-963)GCC>GTC		limbic system-associated membrane protein							50.0	50.0	50.0					3																	115529219		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115529219G>A	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.962C>T	3.37:g.115529219G>A	ENSP00000419000:p.Ala321Val					LSAMP_uc011bis.1_Missense_Mutation_p.A344V	p.A321V	NM_002338	NP_002329	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	7	1462	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	321					Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.962C>T	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043875	0.55110	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563	T;T;T	0.59364	0.33;0.69;0.27	6.06	6.06	0.98353	.	0.206161	0.40908	D	0.000995	T	0.43897	0.1268	N	0.19112	0.55	0.45427	D	0.998406	B;B	0.34103	0.437;0.437	B;B	0.26094	0.066;0.066	T	0.28364	-1.0046	10	0.27082	T	0.32	-3.9036	20.6243	0.99512	0.0:0.0:1.0:0.0	.	321;321	B2RCU8;Q13449	.;LSAMP_HUMAN	V	328;321;341	ENSP00000328455:A328V;ENSP00000419000:A321V;ENSP00000443429:A341V	ENSP00000328455:A328V	A	-	2	0	LSAMP	117011909	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.385000	0.73182	2.879000	0.98667	0.650000	0.86243	GCC		0.423	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		13	21	0	0	0	0	13	21				
ATP2C1	27032	broad.mit.edu	37	3	130718428	130718428	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:130718428A>C	ENST00000510168.1	+	27	3104	c.2554A>C	c.(2554-2556)Atc>Ctc	p.I852L	ATP2C1_ENST00000513801.1_Missense_Mutation_p.I836L|ATP2C1_ENST00000393221.4_Missense_Mutation_p.I886L|ATP2C1_ENST00000504381.1_Missense_Mutation_p.I797L|ATP2C1_ENST00000428331.2_Missense_Mutation_p.I852L|ATP2C1_ENST00000505330.1_Missense_Mutation_p.I836L|ATP2C1_ENST00000508532.1_Missense_Mutation_p.I852L|ATP2C1_ENST00000328560.8_Missense_Mutation_p.I852L|ATP2C1_ENST00000359644.3_Missense_Mutation_p.I852L|ATP2C1_ENST00000504948.1_Missense_Mutation_p.I836L|ATP2C1_ENST00000533801.2_Missense_Mutation_p.I847L|ATP2C1_ENST00000507488.2_Missense_Mutation_p.I836L|ATP2C1_ENST00000422190.2_Missense_Mutation_p.I852L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	852					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCTTGGATCCATCATGGGACA	0.393									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	uc003enl.2		NA																	0				skin(1)	1						c.(2554-2556)ATC>CTC		calcium-transporting ATPase 2C1 isoform 1a	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						133.0	125.0	128.0					3																	130718428		2203	4300	6503	SO:0001583	missense	27032	Hailey-Hailey_disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130718428A>C	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2554A>C	3.37:g.130718428A>C	ENSP00000427461:p.Ile852Leu					ATP2C1_uc011blg.1_Missense_Mutation_p.I886L|ATP2C1_uc011blh.1_Missense_Mutation_p.I847L|ATP2C1_uc011bli.1_Missense_Mutation_p.I886L|ATP2C1_uc003enk.2_Missense_Mutation_p.I836L|ATP2C1_uc003enm.2_Missense_Mutation_p.I852L|ATP2C1_uc003enn.2_Missense_Mutation_p.I836L|ATP2C1_uc003eno.2_Missense_Mutation_p.I852L|ATP2C1_uc003enp.2_Missense_Mutation_p.I852L|ATP2C1_uc003enq.2_Missense_Mutation_p.I852L|ATP2C1_uc003enr.2_Missense_Mutation_p.I852L|ATP2C1_uc003ens.2_Missense_Mutation_p.I852L|ATP2C1_uc003ent.2_Missense_Mutation_p.I852L|ATP2C1_uc003enu.2_Missense_Mutation_p.I530L	p.I852L	NM_014382	NP_055197	P98194	AT2C1_HUMAN			27	2776	+			852			Helical; Name=9; (By similarity).		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	ENST00000510168.1	37	c.2554A>C	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	A	6.402	0.442242	0.12164	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	D;D;D;D;D;D;D;D;D;D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69;-3.69;-3.69;-3.69;-3.69;-3.69;-3.69;-3.69;-3.69;-3.69	5.91	3.51	0.40186	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.046000	0.85682	D	0.000000	D	0.84110	0.5400	N	0.03050	-0.425	0.58432	D	0.999996	B;B;B;B;B;B;B	0.13594	0.006;0.008;0.004;0.006;0.004;0.002;0.008	B;B;B;B;B;B;B	0.18871	0.02;0.023;0.023;0.014;0.023;0.008;0.013	T	0.74349	-0.3694	10	0.06625	T	0.88	.	8.6912	0.34267	0.8041:0.1298:0.0661:0.0	.	886;847;886;852;886;852;852	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.;.;.;.;.;.;AT2C1_HUMAN	L	836;797;836;886;847;852;852;836;836;852;852;852;852;851	ENSP00000423774:I836L;ENSP00000425320:I797L;ENSP00000421326:I836L;ENSP00000376914:I886L;ENSP00000432956:I847L;ENSP00000427461:I852L;ENSP00000424783:I852L;ENSP00000423330:I836L;ENSP00000422872:I836L;ENSP00000329664:I852L;ENSP00000395809:I852L;ENSP00000352665:I852L;ENSP00000402677:I852L	ENSP00000329664:I852L	I	+	1	0	ATP2C1	132201118	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.208000	0.72165	0.483000	0.27608	0.533000	0.62120	ATC		0.393	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		21	123	0	0	0	0	21	123				
AADACL2	344752	broad.mit.edu	37	3	151451836	151451836	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:151451836G>A	ENST00000356517.3	+	1	122	c.13G>A	c.(13-15)Gct>Act	p.A5T		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	5						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GGGGCTAAAAGCTCTCTGTTT	0.383																																						uc003ezc.2		NA																	0					0						c.(13-15)GCT>ACT		arylacetamide deacetylase-like 2 precursor							364.0	293.0	315.0					3																	151451836		692	1591	2283	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151451836G>A	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.13G>A	3.37:g.151451836G>A	ENSP00000348911:p.Ala5Thr					AADACL2_uc010hvn.2_5'UTR	p.A5T	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		1	133	+			5					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.13G>A	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722382	0.30503	.	.	ENSG00000197953	ENST00000356517	T	0.04194	3.68	5.17	-6.13	0.02118	.	.	.	.	.	T	0.01940	0.0061	N	0.16166	0.38	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.47156	-0.9139	9	0.02654	T	1	.	5.5692	0.17187	0.5288:0.0:0.2451:0.2262	.	5	Q6P093	ADCL2_HUMAN	T	5	ENSP00000348911:A5T	ENSP00000348911:A5T	A	+	1	0	AADACL2	152934526	0.040000	0.19996	0.007000	0.13788	0.021000	0.10359	-1.286000	0.02788	-1.107000	0.03004	-0.136000	0.14681	GCT		0.383	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		4	45	0	0	0	0	4	45				
SLC7A14	57709	broad.mit.edu	37	3	170198764	170198764	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:170198764T>C	ENST00000231706.5	-	7	1622	c.1307A>G	c.(1306-1308)gAc>gGc	p.D436G	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	436					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.D436G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ACCATCAATGTCACTCTCAGG	0.498																																						uc003fgz.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(1306-1308)GAC>GGC		solute carrier family 7 (cationic amino acid							132.0	115.0	121.0					3																	170198764		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198764T>C	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1307A>G	3.37:g.170198764T>C	ENSP00000231706:p.Asp436Gly					CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	p.D436G	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	1623	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		436					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.1307A>G	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	T	19.02	3.746667	0.69418	.	.	ENSG00000013293	ENST00000231706	T	0.48836	0.8	5.03	5.03	0.67393	.	0.233360	0.42964	D	0.000627	T	0.40546	0.1121	L	0.31476	0.935	0.80722	D	1	P	0.44521	0.837	B	0.44315	0.446	T	0.16129	-1.0413	10	0.24483	T	0.36	.	14.7529	0.69540	0.0:0.0:0.0:1.0	.	436	Q8TBB6	S7A14_HUMAN	G	436	ENSP00000231706:D436G	ENSP00000231706:D436G	D	-	2	0	SLC7A14	171681458	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.790000	0.69038	1.893000	0.54813	0.533000	0.62120	GAC		0.498	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		18	115	0	0	0	0	18	115				
TNIK	23043	broad.mit.edu	37	3	170802049	170802049	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:170802049C>A	ENST00000436636.2	-	26	3408	c.3064G>T	c.(3064-3066)Gtg>Ttg	p.V1022L	TNIK_ENST00000470834.1_Missense_Mutation_p.V985L|TNIK_ENST00000475336.1_Missense_Mutation_p.V930L|TNIK_ENST00000369326.5_Missense_Mutation_p.V1000L|TNIK_ENST00000284483.8_Missense_Mutation_p.V1014L|TNIK_ENST00000357327.5_Missense_Mutation_p.V993L|TNIK_ENST00000538048.1_Missense_Mutation_p.V974L|TNIK_ENST00000341852.6_Missense_Mutation_p.V938L|TNIK_ENST00000460047.1_Missense_Mutation_p.V959L|TNIK_ENST00000488470.1_Missense_Mutation_p.V967L	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1022	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ACATTTACCACCGAAATCTTT	0.403																																						uc003fhh.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(3064-3066)GTG>TTG		TRAF2 and NCK interacting kinase isoform 1							149.0	144.0	146.0					3																	170802049		1858	4105	5963	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170802049C>A	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3064G>T	3.37:g.170802049C>A	ENSP00000399511:p.Val1022Leu					TNIK_uc003fhi.2_Missense_Mutation_p.V967L|TNIK_uc003fhj.2_Missense_Mutation_p.V993L|TNIK_uc003fhk.2_Missense_Mutation_p.V1014L|TNIK_uc003fhl.2_Missense_Mutation_p.V938L|TNIK_uc003fhm.2_Missense_Mutation_p.V959L|TNIK_uc003fhn.2_Missense_Mutation_p.V985L|TNIK_uc003fho.2_Missense_Mutation_p.V930L|TNIK_uc003fhg.2_Missense_Mutation_p.V200L|TNIK_uc003fhp.2_5'Flank	p.V1022L	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		26	3409	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1022			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.3064G>T	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226008	0.79576	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.75477	-0.92;-0.91;-0.93;-0.93;-0.92;-0.92;-0.93;-0.94;-0.94;-0.93	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.83294	0.5223	M	0.81497	2.545	0.80722	D	1	P;P;P;P;P;P;P;P	0.51791	0.582;0.858;0.582;0.582;0.725;0.858;0.582;0.948	B;P;B;B;B;P;B;P	0.52189	0.134;0.561;0.134;0.134;0.439;0.561;0.134;0.692	T	0.82123	-0.0613	10	0.36615	T	0.2	.	20.0765	0.97746	0.0:1.0:0.0:0.0	.	930;985;959;938;1014;993;967;1022	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	L	1022;1000;974;938;1014;930;993;959;967;985	ENSP00000399511:V1022L;ENSP00000358332:V1000L;ENSP00000443278:V974L;ENSP00000345352:V938L;ENSP00000284483:V1014L;ENSP00000418156:V930L;ENSP00000349880:V993L;ENSP00000418916:V959L;ENSP00000418378:V967L;ENSP00000419990:V985L	ENSP00000284483:V1014L	V	-	1	0	TNIK	172284743	1.000000	0.71417	0.990000	0.47175	0.486000	0.33341	7.442000	0.80503	2.809000	0.96659	0.650000	0.86243	GTG		0.403	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		12	190	1	0	0.00136819	0.00144366	12	190				
ECT2	1894	broad.mit.edu	37	3	172482216	172482216	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:172482216C>T	ENST00000392692.3	+	12	1393	c.1217C>T	c.(1216-1218)tCa>tTa	p.S406L	ECT2_ENST00000441497.2_Missense_Mutation_p.S375L|ECT2_ENST00000427830.1_Missense_Mutation_p.S375L|ECT2_ENST00000417960.1_Missense_Mutation_p.S374L|ECT2_ENST00000540509.1_Missense_Mutation_p.S406L|ECT2_ENST00000232458.5_Missense_Mutation_p.S375L	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	406					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAGCGCCCATCAGCTGAGCAT	0.453																																						uc003fii.2		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(1123-1125)TCA>TTA		epithelial cell transforming sequence 2 oncogene							149.0	134.0	139.0					3																	172482216		2203	4300	6503	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172482216C>T	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1217C>T	3.37:g.172482216C>T	ENSP00000376457:p.Ser406Leu					ECT2_uc010hwv.1_Missense_Mutation_p.S406L|ECT2_uc003fih.2_Missense_Mutation_p.S374L|ECT2_uc003fij.1_Missense_Mutation_p.S375L|ECT2_uc003fik.1_Missense_Mutation_p.S375L|ECT2_uc003fil.1_Missense_Mutation_p.S406L	p.S375L	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		11	1262	+	Ovarian(172;0.00197)|Breast(254;0.158)		375					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.1124C>T	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	32	5.185348	0.94885	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98	5.73	5.73	0.89815	Dbl homology (DH) domain (1);	0.000000	0.85682	D	0.000000	T	0.64681	0.2620	M	0.68593	2.085	0.80722	D	1	P;D;P;B	0.71674	0.609;0.998;0.537;0.335	B;D;B;B	0.71870	0.168;0.975;0.155;0.084	T	0.62886	-0.6759	10	0.49607	T	0.09	-14.2642	19.8961	0.96958	0.0:1.0:0.0:0.0	.	406;406;375;374	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	L	375;406;375;374;375;406	ENSP00000232458:S375L;ENSP00000376457:S406L;ENSP00000401910:S375L;ENSP00000415876:S374L;ENSP00000412259:S375L;ENSP00000443160:S406L	ENSP00000232458:S375L	S	+	2	0	ECT2	173964910	1.000000	0.71417	0.923000	0.36655	0.957000	0.61999	7.440000	0.80464	2.699000	0.92147	0.655000	0.94253	TCA		0.453	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		6	191	0	0	0	0	6	191				
MAP3K13	9175	broad.mit.edu	37	3	185191117	185191117	+	Silent	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:185191117C>T	ENST00000265026.3	+	11	2332	c.1998C>T	c.(1996-1998)tgC>tgT	p.C666C	MAP3K13_ENST00000446828.1_Silent_p.C459C|MAP3K13_ENST00000424227.1_Silent_p.C666C|MAP3K13_ENST00000443863.1_Silent_p.C522C|MAP3K13_ENST00000535426.1_Silent_p.C522C	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.C666C(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TAGCAACCTGCGCCAACAACC	0.587																																						uc010hyf.2		NA																	2	Substitution - coding silent(2)		upper_aerodigestive_tract(2)	ovary(2)|skin(1)	3						c.(1996-1998)TGC>TGT		mitogen-activated protein kinase kinase kinase							136.0	135.0	136.0					3																	185191117		2203	4300	6503	SO:0001819	synonymous_variant	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185191117C>T	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1998C>T	3.37:g.185191117C>T						MAP3K13_uc011brt.1_Silent_p.C459C|MAP3K13_uc011bru.1_Silent_p.C522C|MAP3K13_uc003fpi.2_Silent_p.C666C|MAP3K13_uc010hyg.2_Silent_p.C356C	p.C666C	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		12	2264	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		666						Silent	SNP	ENST00000265026.3	37	c.1998C>T	CCDS3270.1																																																																																				0.587	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		123	173	0	0	0	0	123	173				
LPP	4026	broad.mit.edu	37	3	188590462	188590462	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:188590462G>T	ENST00000312675.4	+	10	1867	c.1621G>T	c.(1621-1623)Gag>Tag	p.E541*	LPP_ENST00000543006.1_Nonsense_Mutation_p.E541*	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	541	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TGTGTGCAAGGAGCCTATTAT	0.532			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																	uc003frs.1		NA		Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	HMGA2|MLL|C12orf9		lipoma|leukemia	HMGA2/LPP(161)	0				soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165						c.(1621-1623)GAG>TAG		LIM domain containing preferred translocation							141.0	126.0	131.0					3																	188590462		2203	4300	6503	SO:0001587	stop_gained	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188590462G>T	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1621G>T	3.37:g.188590462G>T	ENSP00000318089:p.Glu541*					LPP_uc011bsg.1_Nonsense_Mutation_p.E394*|LPP_uc011bsi.1_Nonsense_Mutation_p.E541*|LPP_uc011bsj.1_Nonsense_Mutation_p.E378*	p.E541*	NM_005578	NP_005569	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	10	1867	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	541			LIM zinc-binding 3.		A1L4L6|D3DNV6|Q8NFX5	Nonsense_Mutation	SNP	ENST00000312675.4	37	c.1621G>T	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	G	40	8.068353	0.98638	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	.	.	.	5.51	5.51	0.81932	.	0.045405	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	18.4152	0.90567	0.0:0.0:1.0:0.0	.	.	.	.	X	541	.	ENSP00000318089:E541X	E	+	1	0	LPP	190073156	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.550000	0.73905	2.603000	0.88011	0.655000	0.94253	GAG		0.532	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		9	154	1	0	2.81e-09	3.2e-09	9	154				
TP63	8626	broad.mit.edu	37	3	189526287	189526287	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr3:189526287C>T	ENST00000264731.3	+	4	640	c.551C>T	c.(550-552)tCg>tTg	p.S184L	TP63_ENST00000392463.2_Missense_Mutation_p.S90L|TP63_ENST00000392461.3_Missense_Mutation_p.S90L|TP63_ENST00000449992.1_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000437221.1_Missense_Mutation_p.S90L|TP63_ENST00000440651.2_Missense_Mutation_p.S184L|TP63_ENST00000392460.3_Missense_Mutation_p.S184L|TP63_ENST00000418709.2_Missense_Mutation_p.S184L|TP63_ENST00000320472.5_Missense_Mutation_p.S184L|TP63_ENST00000354600.5_Missense_Mutation_p.S90L|TP63_ENST00000456148.1_Missense_Mutation_p.S90L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	184			S -> L (in head and neck cancer). {ECO:0000269|PubMed:9662378}.		apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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)|WW domain binding (GO:0050699)	p.S184L(1)|p.S184W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTCCAGCAGTCGAGCACCGCC	0.627										HNSCC(45;0.13)																												uc003fry.2		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(550-552)TCG>TTG		tumor protein p63 isoform 1							118.0	94.0	102.0					3																	189526287		2203	4300	6503	SO:0001583	missense	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189526287C>T	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.551C>T	3.37:g.189526287C>T	ENSP00000264731:p.Ser184Leu	HNSCC(45;0.13)				TP63_uc003frx.2_Missense_Mutation_p.S184L|TP63_uc003frz.2_Missense_Mutation_p.S184L|TP63_uc010hzc.1_Missense_Mutation_p.S184L|TP63_uc003fsa.2_Missense_Mutation_p.S90L|TP63_uc003fsb.2_Missense_Mutation_p.S90L|TP63_uc003fsc.2_Missense_Mutation_p.S90L|TP63_uc003fsd.2_Missense_Mutation_p.S90L|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.S65L	p.S184L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	4	640	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		184		S -> L (in head and neck cancer).			O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.551C>T	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026685	0.93518	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000354600;ENST00000434928;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D	0.99828	-6.99;-6.99;-6.99;-6.99;-6.99;-6.99;-6.99;-6.99;-6.99;-6.99;-6.99	5.74	5.74	0.90152	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.111526	0.64402	D	0.000006	D	0.99834	0.9925	M	0.85859	2.78	0.80722	D	1	D;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;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.998;0.999;0.999;1.0;0.996;1.0;0.999	D	0.97365	0.9972	9	.	.	.	-4.9903	18.906	0.92462	0.0:1.0:0.0:0.0	.	184;184;90;90;90;90;184;184;184	Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;P63_HUMAN;.	L	184;184;184;184;184;90;90;90;90;90;90	ENSP00000264731:S184L;ENSP00000407144:S184L;ENSP00000317510:S184L;ENSP00000376253:S184L;ENSP00000394337:S184L;ENSP00000346614:S90L;ENSP00000401661:S90L;ENSP00000392488:S90L;ENSP00000376256:S90L;ENSP00000376254:S90L;ENSP00000389485:S90L	.	S	+	2	0	TP63	191008981	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	5.999000	0.70665	2.723000	0.93209	0.655000	0.94253	TCG		0.627	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		19	108	0	0	0	0	19	108				
CXXC4	80319	broad.mit.edu	37	4	105412204	105412204	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr4:105412204G>C	ENST00000426831.1	-	1	263	c.249C>G	c.(247-249)atC>atG	p.I83M	AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000394767.2_Missense_Mutation_p.I252M|CXXC4_ENST00000466963.1_Intron|AC093628.1_ENST00000606234.1_RNA			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	83					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)	p.I83M(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		CTGTCATGACGATGACCCCTG	0.577																																						uc003hxg.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(247-249)ATC>ATG		CXXC finger 4							80.0	88.0	85.0					4																	105412204		2203	4300	6503	SO:0001583	missense	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105412204G>C		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.249C>G	4.37:g.105412204G>C	ENSP00000412267:p.Ile83Met					uc003hxh.1_RNA|CXXC4_uc010ilo.2_Intron	p.I83M	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	1	264	-			83						Missense_Mutation	SNP	ENST00000426831.1	37	c.249C>G		.	.	.	.	.	.	.	.	.	.	G	18.93	3.727446	0.69074	.	.	ENSG00000168772	ENST00000394767;ENST00000426831	.	.	.	4.56	4.56	0.56223	.	1.624090	0.08080	U	1.000000	T	0.55226	0.1907	N	0.08118	0	0.51767	D	0.999932	D	0.63046	0.992	D	0.68353	0.957	T	0.53308	-0.8457	9	0.33940	T	0.23	-8.7216	15.4735	0.75458	0.0:0.0:1.0:0.0	.	83	Q9H2H0	CXXC4_HUMAN	M	83	.	ENSP00000378248:I83M	I	-	3	3	CXXC4	105631653	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.787000	0.55439	2.245000	0.73994	0.484000	0.47621	ATC		0.577	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		27	110	0	0	0	0	27	110				
NDST4	64579	broad.mit.edu	37	4	115767138	115767138	+	Silent	SNP	G	G	A	rs528525620		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr4:115767138G>A	ENST00000264363.2	-	10	2634	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	652	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATGGTGTAGGGAAAAAGTCCA	0.358																																						uc003ibu.2		NA																	0				skin(3)|ovary(1)	4						c.(1954-1956)TTC>TTT		heparan sulfate N-deacetylase/N-sulfotransferase							65.0	64.0	64.0					4																	115767138		2203	4300	6503	SO:0001819	synonymous_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115767138G>A	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1956C>T	4.37:g.115767138G>A						NDST4_uc010imw.2_RNA	p.F652F	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	10	2635	-		Ovarian(17;0.156)	652			Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.		Q2KHM8	Silent	SNP	ENST00000264363.2	37	c.1956C>T	CCDS3706.1																																																																																				0.358	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		15	56	0	0	0	0	15	56				
FAT4	79633	broad.mit.edu	37	4	126402801	126402801	+	Missense_Mutation	SNP	G	G	T	rs376021312		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr4:126402801G>T	ENST00000394329.3	+	15	12737	c.12724G>T	c.(12724-12726)Ggt>Tgt	p.G4242C	FAT4_ENST00000335110.5_Missense_Mutation_p.G2483C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4242	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G4242C(1)|p.G4185C(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAGCCTTTTGGTGTGAACAG	0.433																																						uc003ifj.3		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(12724-12726)GGT>TGT		FAT tumor suppressor homolog 4 precursor							121.0	116.0	118.0					4																	126402801		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126402801G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.12724G>T	4.37:g.126402801G>T	ENSP00000377862:p.Gly4242Cys					FAT4_uc011cgp.1_Missense_Mutation_p.G2483C|FAT4_uc003ifi.1_Missense_Mutation_p.G1720C	p.G4242C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			15	12724	+			4242			Laminin G-like 2.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.12724G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	10.44	1.350951	0.24512	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.75938	-0.81;-0.98	4.91	4.91	0.64330	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.447374	0.16150	U	0.227333	T	0.64125	0.2570	N	0.22421	0.69	0.09310	N	1	D;D;D	0.58268	0.982;0.97;0.982	P;B;P	0.47162	0.54;0.436;0.54	T	0.58352	-0.7651	10	0.54805	T	0.06	.	7.7887	0.29108	0.0853:0.0:0.7532:0.1615	.	2483;4242;4242	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	C	4242;2483	ENSP00000377862:G4242C;ENSP00000335169:G2483C	ENSP00000335169:G2483C	G	+	1	0	FAT4	126622251	0.009000	0.17119	1.000000	0.80357	0.763000	0.43281	1.015000	0.29963	2.260000	0.74910	0.585000	0.79938	GGT		0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		16	74	1	0	1.57e-10	1.8e-10	16	74				
SH3RF1	57630	broad.mit.edu	37	4	170042098	170042098	+	Silent	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr4:170042098T>C	ENST00000284637.9	-	8	1730	c.1389A>G	c.(1387-1389)gaA>gaG	p.E463E	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	463	Interaction with AKT2. {ECO:0000250}.|SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E463E(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCAGCTCTAGTTCATCCTCTT	0.418																																						uc003isa.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	breast(2)|lung(1)	3						c.(1387-1389)GAA>GAG		SH3 domain containing ring finger 1							127.0	109.0	115.0					4																	170042098		2203	4300	6503	SO:0001819	synonymous_variant	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170042098T>C	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1389A>G	4.37:g.170042098T>C						SH3RF1_uc010irc.1_Silent_p.E163E	p.E463E	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	8	1724	-		Prostate(90;0.00267)|Renal(120;0.0183)	463			SH3 3.|Interaction with AKT2 (By similarity).		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Silent	SNP	ENST00000284637.9	37	c.1389A>G	CCDS34099.1																																																																																				0.418	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		26	73	0	0	0	0	26	73				
GLRA3	8001	broad.mit.edu	37	4	175710093	175710093	+	Splice_Site	SNP	A	A	G	rs144360619		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr4:175710093A>G	ENST00000274093.3	-	2	575	c.73T>C	c.(73-75)Ttg>Ctg	p.L25L	GLRA3_ENST00000340217.5_Splice_Site_p.L25L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	25					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	GTGGCAACCAAACTACAAATA	0.323																																						uc003ity.1		NA																	0				ovary(3)	3						c.(73-75)TTG>CTG		glycine receptor, alpha 3 isoform a	Glycine(DB00145)						60.0	58.0	59.0					4																	175710093		2203	4300	6503	SO:0001630	splice_region_variant	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175710093A>G	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.72-1T>C	4.37:g.175710093A>G						GLRA3_uc003itz.1_Silent_p.L25L	p.L25L	NM_006529	NP_006520	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	2	576	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	25					D3DP44|O75816|Q5D0E3	Silent	SNP	ENST00000274093.3	37	c.73T>C	CCDS3822.1																																																																																				0.323	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1		Silent	7	38	0	0	0	0	7	38				
MCCC2	64087	broad.mit.edu	37	5	70930987	70930987	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:70930987G>A	ENST00000340941.6	+	10	1042	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	MCCC2_ENST00000509358.2_Missense_Mutation_p.E305K|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Missense_Mutation_p.E267K	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	305	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GGTCACCATTGAACCTTCTGA	0.373																																						uc003kbs.3		NA																	0				ovary(1)	1						c.(913-915)GAA>AAA		methylcrotonoyl-Coenzyme A carboxylase 2 (beta)	Biotin(DB00121)						130.0	128.0	129.0					5																	70930987		2203	4300	6503	SO:0001583	missense	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70930987G>A	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.913G>A	5.37:g.70930987G>A	ENSP00000343657:p.Glu305Lys					MCCC2_uc010iyv.1_Missense_Mutation_p.E305K|MCCC2_uc003kbt.3_RNA|MCCC2_uc003kbu.1_Missense_Mutation_p.E174K	p.E305K	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	10	1051	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	305			Carboxyltransferase.		A6NIY9|Q96C27|Q9Y4L7	Missense_Mutation	SNP	ENST00000340941.6	37	c.913G>A	CCDS34184.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082400	0.36758	.	.	ENSG00000131844	ENST00000340941;ENST00000509358;ENST00000323375;ENST00000509539	D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4	5.22	5.22	0.72569	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	D	0.93061	0.7791	N	0.20986	0.625	0.80722	D	1	B;B;B	0.17465	0.022;0.005;0.009	B;B;B	0.21546	0.035;0.01;0.021	D	0.89657	0.3874	10	0.07644	T	0.81	-32.9537	17.9176	0.88957	0.0:0.0:1.0:0.0	.	305;174;305	D6RDF7;B3KR24;Q9HCC0	.;.;MCCB_HUMAN	K	305;305;267;80	ENSP00000343657:E305K;ENSP00000420994:E305K;ENSP00000327308:E267K;ENSP00000425474:E80K	ENSP00000327308:E267K	E	+	1	0	MCCC2	70966743	1.000000	0.71417	0.711000	0.30485	0.942000	0.58702	9.084000	0.94076	2.594000	0.87642	0.460000	0.39030	GAA		0.373	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4			9	92	0	0	0	0	9	92				
ZFYVE16	9765	broad.mit.edu	37	5	79738953	79738953	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:79738953G>A	ENST00000338008.5	+	5	2611	c.2431G>A	c.(2431-2433)Gaa>Aaa	p.E811K	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.E811K|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.E811K	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	811					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TCAGGCATTTGAAAGGATGAT	0.338																																					Melanoma(150;1452 1854 16018 17851 37292)	uc003kgr.3		NA																	0					0						c.(2431-2433)GAA>AAA		zinc finger, FYVE domain containing 16							108.0	105.0	106.0					5																	79738953		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79738953G>A	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2431G>A	5.37:g.79738953G>A	ENSP00000337159:p.Glu811Lys					ZFYVE16_uc003kgp.2_Missense_Mutation_p.E811K|ZFYVE16_uc003kgq.3_Missense_Mutation_p.E811K|ZFYVE16_uc003kgs.3_Missense_Mutation_p.E811K|ZFYVE16_uc003kgt.3_5'UTR	p.E811K	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	6	2733	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	811					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.2431G>A	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901020	0.92035	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.42513	0.97;0.97;0.97	5.5	5.5	0.81552	Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000007	T	0.61160	0.2325	M	0.77103	2.36	0.47065	D	0.9993	D	0.56968	0.978	P	0.55011	0.766	T	0.62210	-0.6902	10	0.44086	T	0.13	-23.811	19.0053	0.92848	0.0:0.0:1.0:0.0	.	811	Q7Z3T8	ZFY16_HUMAN	K	811	ENSP00000337159:E811K;ENSP00000423663:E811K;ENSP00000426848:E811K	ENSP00000337159:E811K	E	+	1	0	ZFYVE16	79774709	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.136000	0.77285	2.599000	0.87857	0.655000	0.94253	GAA		0.338	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		26	143	0	0	0	0	26	143				
APC	324	broad.mit.edu	37	5	112173950	112173950	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:112173950A>T	ENST00000457016.1	+	16	3039	c.2659A>T	c.(2659-2661)Att>Ttt	p.I887F	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.I887F|APC_ENST00000257430.4_Missense_Mutation_p.I887F			P25054	APC_HUMAN	adenomatous polyposis coli	887	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGCAGCCCAGATTGCCAAAGT	0.468		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		1	Unknown(1)	p.?(1)	skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(2659-2661)ATT>TTT		adenomatous polyposis coli							80.0	78.0	79.0					5																	112173950		2202	4300	6502	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112173950A>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2659A>T	5.37:g.112173950A>T	ENSP00000413133:p.Ile887Phe	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.I869F|APC_uc003kpz.3_Missense_Mutation_p.I887F|APC_uc003kpy.3_Missense_Mutation_p.I887F|APC_uc010jbz.2_Missense_Mutation_p.I604F|APC_uc010jca.2_Missense_Mutation_p.I187F	p.I887F	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	3039	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	887			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.2659A>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.375027	0.61735	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.96619	-3.27;-4.07;-3.27;-3.27;-3.46	5.92	4.76	0.60689	.	0.177319	0.49305	D	0.000156	D	0.97592	0.9211	M	0.74881	2.28	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.75484	0.986;0.978	D	0.97659	1.0159	10	0.87932	D	0	-8.9737	11.8513	0.52413	0.9318:0.0:0.0682:0.0	.	889;887	Q4LE70;P25054	.;APC_HUMAN	F	887;869;887;887;887	ENSP00000413133:I887F;ENSP00000423224:I869F;ENSP00000257430:I887F;ENSP00000427089:I887F;ENSP00000423828:I887F	ENSP00000257430:I887F	I	+	1	0	APC	112201849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.123000	0.77176	1.064000	0.40671	0.455000	0.32223	ATT		0.468	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		16	46	0	0	0	0	16	46				
MCC	4163	broad.mit.edu	37	5	112458453	112458453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:112458453G>A	ENST00000302475.4	-	4	948	c.385C>T	c.(385-387)Cga>Tga	p.R129*	MCC_ENST00000408903.3_Nonsense_Mutation_p.R319*|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_Nonsense_Mutation_p.R66*	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	129					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TCCATGCTTCGAGAGTCCTCG	0.522																																						uc003kqj.3		NA																	0				ovary(1)	1						c.(385-387)CGA>TGA		mutated in colorectal cancers isoform 2							172.0	138.0	149.0					5																	112458453		2202	4300	6502	SO:0001587	stop_gained	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112458453G>A		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.385C>T	5.37:g.112458453G>A	ENSP00000305617:p.Arg129*					MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Nonsense_Mutation_p.R319*|MCC_uc011cwb.1_Nonsense_Mutation_p.R129*|MCC_uc010jcd.1_Nonsense_Mutation_p.R91*	p.R129*	NM_002387	NP_002378	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	4	915	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	129					D3DT05|Q6ZR04	Nonsense_Mutation	SNP	ENST00000302475.4	37	c.385C>T	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	G	44	10.684747	0.99450	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	.	.	.	5.76	1.82	0.25136	.	0.139891	0.48286	D	0.000185	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3534	9.5055	0.39044	0.065:0.0:0.5673:0.3677	.	.	.	.	X	129;66;319	.	ENSP00000305617:R129X	R	-	1	2	MCC	112486352	1.000000	0.71417	0.892000	0.35008	0.985000	0.73830	3.903000	0.56318	0.038000	0.15604	0.563000	0.77884	CGA		0.522	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		6	60	0	0	0	0	6	60				
SLC12A2	6558	broad.mit.edu	37	5	127420048	127420048	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:127420048A>T	ENST00000262461.2	+	1	591	c.402A>T	c.(400-402)gaA>gaT	p.E134D	SLC12A2_ENST00000343225.4_Missense_Mutation_p.E134D|CTC-228N24.3_ENST00000501702.2_lincRNA	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	134					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GCAGCGAGGAAGCCAAGGGCC	0.726																																						uc003kus.2		NA																	0				ovary(3)	3						c.(400-402)GAA>GAT		solute carrier family 12	Bumetanide(DB00887)|Potassium Chloride(DB00761)						14.0	13.0	13.0					5																	127420048		2195	4290	6485	SO:0001583	missense	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127420048A>T		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.402A>T	5.37:g.127420048A>T	ENSP00000262461:p.Glu134Asp					FLJ33630_uc003kun.2_5'Flank|FLJ33630_uc003kuo.2_5'Flank|FLJ33630_uc003kup.1_5'Flank|FLJ33630_uc003kuq.1_5'Flank|FLJ33630_uc003kur.2_5'Flank|SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Missense_Mutation_p.E134D	p.E134D	NM_001046	NP_001037	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	1	566	+		all_cancers(142;0.0972)|Prostate(80;0.151)	134			Cytoplasmic (Potential).		Q8N713|Q8WWH7	Missense_Mutation	SNP	ENST00000262461.2	37	c.402A>T	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.719482	0.48728	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	D;D	0.86230	-2.05;-2.09	3.85	3.85	0.44370	.	0.160450	0.40144	N	0.001178	D	0.83718	0.5315	L	0.46157	1.445	0.46521	D	0.999087	P;P	0.44429	0.835;0.745	P;B	0.46339	0.513;0.315	T	0.81810	-0.0762	10	0.40728	T	0.16	.	7.7251	0.28755	0.9042:0.0:0.0958:0.0	.	134;134	P55011-3;P55011	.;S12A2_HUMAN	D	134	ENSP00000262461:E134D;ENSP00000340878:E134D	ENSP00000262461:E134D	E	+	3	2	SLC12A2	127447947	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.366000	0.34193	1.601000	0.50113	0.260000	0.18958	GAA		0.726	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1	NM_001046		3	9	0	0	0	0	3	9				
NEUROG1	4762	broad.mit.edu	37	5	134870804	134870804	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:134870804C>T	ENST00000314744.4	-	1	835	c.577G>A	c.(577-579)Gcc>Acc	p.A193T		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	193					cell fate commitment (GO:0045165)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perikaryon (GO:0043204)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCGGGGAGGCGGCGGCGGCA	0.721																																						uc003lax.2		NA																	0					0						c.(577-579)GCC>ACC		neurogenin 1							22.0	26.0	25.0					5																	134870804		2203	4300	6503	SO:0001583	missense	4762				positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity	g.chr5:134870804C>T	U63842	CCDS4187.1	5q23-q31	2013-05-21			ENSG00000181965	ENSG00000181965		"""Basic helix-loop-helix proteins"""	7764	protein-coding gene	gene with protein product	"""neurogenic differentiation 3"""	601726		NEUROD3		9119405	Standard	NM_006161		Approved	AKA, Math4C, ngn1, bHLHa6	uc003lax.3	Q92886	OTTHUMG00000129138	ENST00000314744.4:c.577G>A	5.37:g.134870804C>T	ENSP00000317580:p.Ala193Thr						p.A193T	NM_006161	NP_006152	Q92886	NGN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	836	-			193					Q5U0Q9|Q96HE1	Missense_Mutation	SNP	ENST00000314744.4	37	c.577G>A	CCDS4187.1	.	.	.	.	.	.	.	.	.	.	C	0.166	-1.076358	0.01903	.	.	ENSG00000181965	ENST00000314744	D	0.95272	-3.66	4.53	1.03	0.20045	.	0.610562	0.13994	U	0.348623	D	0.86012	0.5831	N	0.19112	0.55	0.29805	N	0.832142	B	0.06786	0.001	B	0.01281	0.0	T	0.75539	-0.3282	10	0.25106	T	0.35	3.952	4.7869	0.13229	0.3801:0.42:0.0:0.1999	.	193	Q92886	NGN1_HUMAN	T	193	ENSP00000317580:A193T	ENSP00000317580:A193T	A	-	1	0	NEUROG1	134898703	0.000000	0.05858	0.663000	0.29738	0.086000	0.17979	-0.326000	0.07965	0.376000	0.24707	0.655000	0.94253	GCC		0.721	NEUROG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251192.1	NM_006161		14	32	0	0	0	0	14	32				
PCDHA1	56147	broad.mit.edu	37	5	140167198	140167198	+	Silent	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:140167198G>T	ENST00000504120.2	+	1	1323	c.1323G>T	c.(1321-1323)gtG>gtT	p.V441V	PCDHA1_ENST00000378133.3_Silent_p.V441V|PCDHA1_ENST00000394633.3_Silent_p.V441V	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	441	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCCAGGGTGTCCGTGGAGG	0.662																																						uc003lhb.2		NA																	0				skin(1)	1						c.(1321-1323)GTG>GTT		protocadherin alpha 1 isoform 1 precursor							77.0	82.0	80.0					5																	140167198		2203	4298	6501	SO:0001819	synonymous_variant	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167198G>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1323G>T	5.37:g.140167198G>T						PCDHA1_uc003lha.2_Silent_p.V441V|PCDHA1_uc003lgz.2_Silent_p.V441V	p.V441V	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1323	+			441			Cadherin 4.|Extracellular (Potential).		O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1323G>T	CCDS54913.1																																																																																				0.662	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		7	124	1	0	1.13e-05	1.23e-05	7	124				
TFAP2A	7020	broad.mit.edu	37	6	10404781	10404781	+	Missense_Mutation	SNP	C	C	T	rs151344526		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr6:10404781C>T	ENST00000482890.1	-	5	1076	c.724G>A	c.(724-726)Gag>Aag	p.E242K	TFAP2A_ENST00000379613.3_Missense_Mutation_p.E244K|TFAP2A_ENST00000379604.2_Missense_Mutation_p.E242K|TFAP2A_ENST00000319516.4_Missense_Mutation_p.E238K|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379608.3_Missense_Mutation_p.E236K			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	242					anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TTGAGACACTCGGGTGGTGAG	0.706																																						uc003myr.2		NA																	0				ovary(1)	1						c.(724-726)GAG>AAG		transcription factor AP-2 alpha isoform a							26.0	23.0	24.0					6																	10404781		2203	4300	6503	SO:0001583	missense	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10404781C>T	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.724G>A	6.37:g.10404781C>T	ENSP00000418541:p.Glu242Lys					TFAP2A_uc003myq.2_Missense_Mutation_p.E236K|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Missense_Mutation_p.E242K|TFAP2A_uc003myt.2_Missense_Mutation_p.E238K|TFAP2A_uc003myu.1_Missense_Mutation_p.E242K	p.E242K	NM_003220	NP_003211	P05549	AP2A_HUMAN			4	976	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	242					Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	37	c.724G>A	CCDS4510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.881949|5.881949	0.97062|0.97062	.|.	.|.	ENSG00000137203|ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890;ENST00000466073;ENST00000498450|ENST00000461628	D;D;D;D;D;D;D|.	0.98876|.	-5.2;-5.2;-5.2;-5.2;-5.2;-5.2;-5.2|.	5.17|5.17	4.31|4.31	0.51392|0.51392	Transcription factor AP-2, C-terminal (1);|.	0.108699|.	0.64402|.	D|.	0.000004|.	T|T	0.77191|0.77191	0.4094|0.4094	M|M	0.93062|0.93062	3.375|3.375	0.80722|0.80722	A|A	1|1	D;D;D;D;D|.	0.71674|.	0.998;0.998;0.979;0.979;0.973|.	P;D;P;P;P|.	0.80764|.	0.728;0.994;0.508;0.508;0.608|.	D|D	0.84437|0.84437	0.0580|0.0580	9|4	0.87932|.	D|.	0|.	-11.7105|-11.7105	13.6117|13.6117	0.62083|0.62083	0.0:0.9241:0.0:0.0759|0.0:0.9241:0.0:0.0759	.|.	242;244;238;242;236|.	C1K3N0;Q96SH0;Q5TAV5;P05549;Q8N1C6|.	.;.;.;AP2A_HUMAN;.|.	K|Q	244;242;238;236;242;242;99|16	ENSP00000368933:E244K;ENSP00000368924:E242K;ENSP00000316516:E238K;ENSP00000368928:E236K;ENSP00000418541:E242K;ENSP00000417495:E242K;ENSP00000419961:E99K|.	ENSP00000316516:E238K|.	E|R	-|-	1|2	0|0	TFAP2A|TFAP2A	10512767|10512767	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.999000|0.999000	0.98932|0.98932	7.496000|7.496000	0.81526|0.81526	1.308000|1.308000	0.44962|0.44962	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.706	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		6	11	0	0	0	0	6	11				
HSPA1L	3305	broad.mit.edu	37	6	31778584	31778584	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr6:31778584T>C	ENST00000375654.4	-	2	1355	c.1166A>G	c.(1165-1167)aAg>aGg	p.K389R	HSPA1L_ENST00000417199.3_Missense_Mutation_p.K389R	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	389					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GTCCTGTACCTTCTCAGACTT	0.587																																						uc003nxh.2		NA																	0				ovary(3)|pleura(1)|kidney(1)|skin(1)	6						c.(1165-1167)AAG>AGG		heat shock 70kDa protein 1-like							81.0	71.0	74.0					6																	31778584		2203	4300	6503	SO:0001583	missense	3305				response to unfolded protein		ATP binding	g.chr6:31778584T>C	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1166A>G	6.37:g.31778584T>C	ENSP00000364805:p.Lys389Arg					HSPA1L_uc010jte.2_Missense_Mutation_p.K389R	p.K389R	NM_005527	NP_005518	P34931	HS71L_HUMAN			2	1349	-			389					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	c.1166A>G	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.526869	0.44969	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653	T;T	0.04234	3.67;3.67	5.2	5.2	0.72013	.	0.000000	0.36303	N	0.002671	T	0.05364	0.0142	M	0.68728	2.09	0.40325	D	0.978863	B	0.30686	0.29	B	0.39339	0.297	T	0.06092	-1.0846	10	0.54805	T	0.06	-20.3596	13.0611	0.59008	0.0:0.0:0.0:1.0	.	389	P34931	HS71L_HUMAN	R	389;389;334	ENSP00000364805:K389R;ENSP00000387691:K389R	ENSP00000364804:K334R	K	-	2	0	HSPA1L	31886563	1.000000	0.71417	0.970000	0.41538	0.671000	0.39405	7.868000	0.87116	2.184000	0.69523	0.477000	0.44152	AAG		0.587	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			16	71	0	0	0	0	16	71				
EPHA7	2045	broad.mit.edu	37	6	94120846	94120846	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr6:94120846G>A	ENST00000369303.4	-	3	389	c.205C>T	c.(205-207)Cga>Tga	p.R69*	EPHA7_ENST00000369297.1_Nonsense_Mutation_p.R69*	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	69	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.R69*(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGGTATGTTCGTATCGGGGTA	0.393																																						uc003poe.2		NA																	1	Substitution - Nonsense(1)	p.R69Q(1)	upper_aerodigestive_tract(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(205-207)CGA>TGA		ephrin receptor EphA7 precursor							100.0	105.0	103.0					6																	94120846		2190	4294	6484	SO:0001587	stop_gained	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94120846G>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.205C>T	6.37:g.94120846G>A	ENSP00000358309:p.Arg69*					EPHA7_uc003pof.2_Nonsense_Mutation_p.R69*|EPHA7_uc011eac.1_Nonsense_Mutation_p.R69*|EPHA7_uc003pog.3_Nonsense_Mutation_p.R69*	p.R69*	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	3	446	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	69			Extracellular (Potential).		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Nonsense_Mutation	SNP	ENST00000369303.4	37	c.205C>T	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	36	5.716694	0.96830	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	.	.	.	5.51	2.43	0.29744	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6615	0.68876	0.0:0.0:0.5103:0.4897	.	.	.	.	X	69	.	ENSP00000358303:R69X	R	-	1	2	EPHA7	94177567	1.000000	0.71417	0.897000	0.35233	0.994000	0.84299	3.693000	0.54735	0.230000	0.21059	0.655000	0.94253	CGA		0.393	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			31	99	0	0	0	0	31	99				
ROS1	6098	broad.mit.edu	37	6	117630083	117630083	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr6:117630083C>A	ENST00000368508.3	-	41	6641	c.6443G>T	c.(6442-6444)gGa>gTa	p.G2148V	ROS1_ENST00000368507.3_Missense_Mutation_p.G2142V	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	2148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AATCAGAATTCCAAAAGACCT	0.393			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1		NA		Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		0				lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(6442-6444)GGA>GTA		proto-oncogene c-ros-1 protein precursor							66.0	65.0	65.0					6																	117630083		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117630083C>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.6443G>T	6.37:g.117630083C>A	ENSP00000357494:p.Gly2148Val					ROS1_uc011ebi.1_RNA	p.G2148V	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	41	6642	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	2148			Protein kinase.|Cytoplasmic (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.6443G>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924431	0.73213	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.99167	-5.51;-5.51	4.82	3.9	0.45041	.	0.000000	0.64402	D	0.000019	D	0.99670	0.9877	H	0.99770	4.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97087	0.9788	10	0.87932	D	0	.	14.052	0.64742	0.1505:0.8495:0.0:0.0	.	2148	P08922	ROS1_HUMAN	V	2148;2142	ENSP00000357494:G2148V;ENSP00000357493:G2142V	ENSP00000357493:G2142V	G	-	2	0	ROS1	117736776	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.815000	0.69215	2.374000	0.81015	0.650000	0.86243	GGA		0.393	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			13	53	1	0	6.32e-08	7.11e-08	13	53				
SLC2A12	154091	broad.mit.edu	37	6	134323170	134323170	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr6:134323170G>T	ENST00000275230.5	-	4	1820	c.1665C>A	c.(1663-1665)tgC>tgA	p.C555*		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	555					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)	p.C555*(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GTTCCAAAGAGCATCCCTTTG	0.363																																					Melanoma(122;1663 1672 14489 35294 41228)	uc003qem.1		NA																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(1663-1665)TGC>TGA		solute carrier family 2 (facilitated glucose							105.0	98.0	100.0					6																	134323170		2203	4300	6503	SO:0001587	stop_gained	154091					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	g.chr6:134323170G>T	AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.1665C>A	6.37:g.134323170G>T	ENSP00000275230:p.Cys555*						p.C555*	NM_145176	NP_660159	Q8TD20	GTR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)	4	1836	-	Breast(56;0.214)|Colorectal(23;0.221)		555			Cytoplasmic (Potential).		B3KV17|Q7Z6U3|Q96MR8	Nonsense_Mutation	SNP	ENST00000275230.5	37	c.1665C>A	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	G	38	7.056360	0.98032	.	.	ENSG00000146411	ENST00000275230	.	.	.	5.78	1.76	0.24704	.	0.343302	0.35151	N	0.003410	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-4.9973	9.3108	0.37903	0.309:0.0:0.691:0.0	.	.	.	.	X	555	.	ENSP00000275230:C555X	C	-	3	2	SLC2A12	134364863	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	0.916000	0.28651	0.284000	0.22305	-0.365000	0.07479	TGC		0.363	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			16	67	1	0	1.36e-06	1.51e-06	16	67				
HIVEP2	3097	broad.mit.edu	37	6	143081528	143081528	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr6:143081528G>T	ENST00000367604.1	-	8	6536	c.5897C>A	c.(5896-5898)tCt>tAt	p.S1966Y	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S1966Y|HIVEP2_ENST00000367603.2_Missense_Mutation_p.S1966Y			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1966					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(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GATCAACGAAGAATGTCCCAG	0.483																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	uc003qjd.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(5896-5898)TCT>TAT		human immunodeficiency virus type I enhancer							141.0	131.0	134.0					6																	143081528		1911	4119	6030	SO:0001583	missense	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143081528G>T	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.5897C>A	6.37:g.143081528G>T	ENSP00000356576:p.Ser1966Tyr						p.S1966Y	NM_006734	NP_006725	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	9	6640	-			1966					Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	ENST00000367604.1	37	c.5897C>A	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930416	0.73327	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02606	4.23;4.23;4.23	6.05	6.05	0.98169	.	0.097926	0.64402	D	0.000001	T	0.04861	0.0131	N	0.24115	0.695	0.50039	D	0.999848	D	0.71674	0.998	P	0.61940	0.896	T	0.54050	-0.8351	10	0.72032	D	0.01	-13.208	20.6087	0.99469	0.0:0.0:1.0:0.0	.	1966	P31629	ZEP2_HUMAN	Y	1966	ENSP00000356576:S1966Y;ENSP00000356575:S1966Y;ENSP00000012134:S1966Y	ENSP00000012134:S1966Y	S	-	2	0	HIVEP2	143123221	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.675000	0.68123	2.866000	0.98385	0.650000	0.86243	TCT		0.483	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1			35	115	1	0	4.32e-19	5.12e-19	35	115				
SNX8	29886	broad.mit.edu	37	7	2296595	2296595	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:2296595C>G	ENST00000222990.3	-	10	1240	c.1198G>C	c.(1198-1200)Gag>Cag	p.E400Q		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	400					early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		AGCTGCGTCTCCTGGTGCAGG	0.622																																						uc003slw.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1198-1200)GAG>CAG		sorting nexin 8							186.0	122.0	144.0					7																	2296595		2203	4300	6503	SO:0001583	missense	29886				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding	g.chr7:2296595C>G	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512	ENST00000222990.3:c.1198G>C	7.37:g.2296595C>G	ENSP00000222990:p.Glu400Gln						p.E400Q	NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)	10	1241	-		Ovarian(82;0.11)	400					A4D207|Q96I67	Missense_Mutation	SNP	ENST00000222990.3	37	c.1198G>C	CCDS5331.1	.	.	.	.	.	.	.	.	.	.	C	33	5.283053	0.95489	.	.	ENSG00000106266	ENST00000222990	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.80633	0.4660	M	0.77103	2.36	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.82615	-0.0370	9	0.66056	D	0.02	.	18.9416	0.92607	0.0:1.0:0.0:0.0	.	400	Q9Y5X2	SNX8_HUMAN	Q	400	.	ENSP00000222990:E400Q	E	-	1	0	SNX8	2263121	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.302000	0.78861	2.490000	0.84030	0.561000	0.74099	GAG		0.622	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			4	29	0	0	0	0	4	29				
SKAP2	8935	broad.mit.edu	37	7	26779555	26779555	+	Silent	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:26779555T>C	ENST00000345317.2	-	5	649	c.336A>G	c.(334-336)caA>caG	p.Q112Q	SKAP2_ENST00000539623.1_5'UTR|SKAP2_ENST00000489977.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	112					B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						AAGGAAGGTCTTGTGCTGCAA	0.378																																						uc003syc.2		NA																	0				pancreas(1)	1						c.(334-336)CAA>CAG		src kinase associated phosphoprotein 2							69.0	66.0	67.0					7																	26779555		2203	4300	6503	SO:0001819	synonymous_variant	8935				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	g.chr7:26779555T>C		CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"""Pleckstrin homology (PH) domain containing"""	15687	protein-coding gene	gene with protein product		605215	"""src family associated phosphoprotein 2"""	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.336A>G	7.37:g.26779555T>C						SKAP2_uc011jzi.1_5'UTR|SKAP2_uc011jzj.1_Silent_p.Q97Q	p.Q112Q	NM_003930	NP_003921	O75563	SKAP2_HUMAN			5	629	-			112					A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Silent	SNP	ENST00000345317.2	37	c.336A>G	CCDS5400.1																																																																																				0.378	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214128.1			11	45	0	0	0	0	11	45				
FIGNL1	63979	broad.mit.edu	37	7	50513222	50513222	+	Silent	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:50513222G>A	ENST00000419119.1	-	2	3317	c.1764C>T	c.(1762-1764)ctC>ctT	p.L588L	FIGNL1_ENST00000433017.1_Silent_p.L588L|FIGNL1_ENST00000395556.2_Silent_p.L588L|FIGNL1_ENST00000356889.4_Silent_p.L588L			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	588					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CTTCTTCACTGAGGCAACACT	0.453																																						uc003tpc.2		NA																	0				ovary(3)	3						c.(1762-1764)CTC>CTT		fidgetin-like 1							97.0	94.0	95.0					7																	50513222		2203	4300	6503	SO:0001819	synonymous_variant	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50513222G>A	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1764C>T	7.37:g.50513222G>A						FIGNL1_uc003tpb.2_Silent_p.L477L|FIGNL1_uc003tpd.2_Silent_p.L588L|FIGNL1_uc003tpe.2_Silent_p.L588L|FIGNL1_uc010kyy.2_Silent_p.L588L	p.L588L	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN			4	2141	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	588					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Silent	SNP	ENST00000419119.1	37	c.1764C>T	CCDS5510.1																																																																																				0.453	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		15	118	0	0	0	0	15	118				
SEMA3C	10512	broad.mit.edu	37	7	80439970	80439970	+	Silent	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:80439970G>A	ENST00000265361.3	-	6	1056	c.495C>T	c.(493-495)cgC>cgT	p.R165R	SEMA3C_ENST00000536800.1_Silent_p.R17R|SEMA3C_ENST00000419255.2_Silent_p.R165R|SEMA3C_ENST00000544525.1_Silent_p.R183R	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	165	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.R165R(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGAAAGAGCAGCGTCCTTTTC	0.353																																						uc003uhj.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(1)	1						c.(493-495)CGC>CGT		semaphorin 3C precursor							179.0	165.0	170.0					7																	80439970		2203	4300	6503	SO:0001819	synonymous_variant	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80439970G>A	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.495C>T	7.37:g.80439970G>A						SEMA3C_uc011kgw.1_Silent_p.R183R|SEMA3C_uc011kgx.1_Silent_p.R17R	p.R165R	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			6	1057	-			165			Sema.		B4DRL8	Silent	SNP	ENST00000265361.3	37	c.495C>T	CCDS5596.1																																																																																				0.353	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		21	128	0	0	0	0	21	128				
PCLO	27445	broad.mit.edu	37	7	82583457	82583457	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:82583457G>T	ENST00000333891.9	-	5	7149	c.6812C>A	c.(6811-6813)tCt>tAt	p.S2271Y	PCLO_ENST00000423517.2_Missense_Mutation_p.S2271Y	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S2202Y(1)|p.S2271Y(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATGATAGAAGATGCCATATC	0.408																																						uc003uhx.2		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	ovary(7)	7						c.(6811-6813)TCT>TAT		piccolo isoform 1							92.0	89.0	90.0					7																	82583457		1881	4113	5994	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82583457G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6812C>A	7.37:g.82583457G>T	ENSP00000334319:p.Ser2271Tyr					PCLO_uc003uhv.2_Missense_Mutation_p.S2271Y|PCLO_uc010lec.2_5'Flank	p.S2271Y	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	7101	-			2202						Missense_Mutation	SNP	ENST00000333891.9	37	c.6812C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	4.539	0.100016	0.08681	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17213	2.29;2.29	5.7	4.63	0.57726	.	.	.	.	.	T	0.10680	0.0261	N	0.08118	0	0.33665	D	0.610207	P;P	0.41569	0.755;0.755	B;B	0.37888	0.26;0.26	T	0.17592	-1.0364	9	0.87932	D	0	.	15.5675	0.76306	0.0771:0.0:0.9229:0.0	.	2271;2271	Q9Y6V0-5;Q9Y6V0-6	.;.	Y	2202;2271;2271	ENSP00000334319:S2271Y;ENSP00000388393:S2271Y	ENSP00000334319:S2271Y	S	-	2	0	PCLO	82421393	0.984000	0.35163	0.033000	0.17914	0.139000	0.21198	3.265000	0.51561	2.690000	0.91761	0.603000	0.83216	TCT		0.408	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		25	84	1	0	6.36e-07	7.11e-07	25	84				
ASNS	440	broad.mit.edu	37	7	97482673	97482673	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:97482673C>T	ENST00000394309.3	-	11	1735	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	ASNS_ENST00000437628.1_Missense_Mutation_p.D339N|ASNS_ENST00000422745.1_Missense_Mutation_p.D401N|ASNS_ENST00000455086.1_Missense_Mutation_p.D339N|ASNS_ENST00000394308.3_Missense_Mutation_p.D422N|ASNS_ENST00000444334.1_Missense_Mutation_p.D401N|ASNS_ENST00000175506.4_Missense_Mutation_p.D422N	NM_133436.3	NP_597680.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	422	Asparagine synthetase.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|asparagine biosynthetic process (GO:0006529)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular protein metabolic process (GO:0044267)|cellular response to glucose starvation (GO:0042149)|cellular response to hormone stimulus (GO:0032870)|endoplasmic reticulum unfolded protein response (GO:0030968)|glutamine metabolic process (GO:0006541)|L-asparagine biosynthetic process (GO:0070981)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|positive regulation of mitotic cell cycle (GO:0045931)|response to amino acid (GO:0043200)|response to follicle-stimulating hormone (GO:0032354)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)|ATP binding (GO:0005524)|cofactor binding (GO:0048037)			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AATCGATGATCTAGAAATGGG	0.368																																					Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738)	uc003uot.3		NA																	0				ovary(1)	1						c.(1264-1266)GAT>AAT		asparagine synthetase	Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						65.0	67.0	66.0					7																	97482673		2202	4300	6502	SO:0001583	missense	440				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	g.chr7:97482673C>T	M27396	CCDS5652.1, CCDS55131.1, CCDS55132.1	7q21.3	2012-10-02	2010-05-07		ENSG00000070669	ENSG00000070669	6.3.5.4		753	protein-coding gene	gene with protein product		108370	"""asparagine synthetase"""				Standard	NM_001673		Approved		uc003uov.4	P08243	OTTHUMG00000022892	ENST00000394309.3:c.1264G>A	7.37:g.97482673C>T	ENSP00000377846:p.Asp422Asn					ASNS_uc011kin.1_Missense_Mutation_p.D339N|ASNS_uc003uou.3_Missense_Mutation_p.D422N|ASNS_uc003uov.3_Missense_Mutation_p.D422N|ASNS_uc011kio.1_Missense_Mutation_p.D401N|ASNS_uc003uow.3_Missense_Mutation_p.D401N|ASNS_uc003uox.3_Missense_Mutation_p.D339N	p.D422N	NM_133436	NP_597680	P08243	ASNS_HUMAN			11	1770	-	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)		422			Asparagine synthetase.		A4D1I8|B4DXZ1|B7ZAA9|D6W5R3|E9PCI3|E9PCX6|P08184|Q15666|Q549T9|Q96HD0	Missense_Mutation	SNP	ENST00000394309.3	37	c.1264G>A	CCDS5652.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666822	0.88251	.	.	ENSG00000070669	ENST00000175506;ENST00000394309;ENST00000437628;ENST00000394308;ENST00000422745;ENST00000455086;ENST00000444334	T;T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01;0.01	3.81	3.81	0.43845	Rossmann-like alpha/beta/alpha sandwich fold (1);Asparagine synthase (1);	0.000000	0.85682	D	0.000000	D	0.83580	0.5285	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88123	0.2833	10	0.87932	D	0	-30.914	14.0225	0.64565	0.0:1.0:0.0:0.0	.	422	P08243	ASNS_HUMAN	N	422;422;339;422;401;339;401	ENSP00000175506:D422N;ENSP00000377846:D422N;ENSP00000414379:D339N;ENSP00000377845:D422N;ENSP00000414901:D401N;ENSP00000408472:D339N;ENSP00000406994:D401N	ENSP00000175506:D422N	D	-	1	0	ASNS	97320609	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.619000	0.74219	2.420000	0.82092	0.561000	0.74099	GAT		0.368	ASNS-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333645.1	NM_001673, NM_183356		26	69	0	0	0	0	26	69				
MUC17	140453	broad.mit.edu	37	7	100682001	100682001	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:100682001G>C	ENST00000306151.4	+	3	7368	c.7304G>C	c.(7303-7305)aGt>aCt	p.S2435T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2435	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTGAAGCCAGTTCATCTCCT	0.547																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(7303-7305)AGT>ACT		mucin 17 precursor							364.0	359.0	360.0					7																	100682001		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100682001G>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7304G>C	7.37:g.100682001G>C	ENSP00000302716:p.Ser2435Thr					MUC17_uc010lho.1_RNA	p.S2435T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	7357	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2435			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|39.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.7304G>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	3.847	-0.032681	0.07543	.	.	ENSG00000169876	ENST00000306151	T	0.02498	4.27	1.54	0.507	0.16967	.	.	.	.	.	T	0.01661	0.0053	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.49542	-0.8929	9	0.09084	T	0.74	.	3.178	0.06575	0.2013:0.3336:0.4651:0.0	.	2435	Q685J3	MUC17_HUMAN	T	2435	ENSP00000302716:S2435T	ENSP00000302716:S2435T	S	+	2	0	MUC17	100468721	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	-5.059000	0.00155	-0.066000	0.12998	0.134000	0.15878	AGT		0.547	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		22	474	0	0	0	0	22	474				
RP1L1	94137	broad.mit.edu	37	8	10467546	10467546	+	Silent	SNP	C	C	T	rs375108865		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr8:10467546C>T	ENST00000382483.3	-	4	4285	c.4062G>A	c.(4060-4062)gcG>gcA	p.A1354A		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1384	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.		Missing (in allele RP1L1-1).|Missing (in allele RP1L1-2).		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.A1354A(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		cctctaactgcgcctcttctt	0.478																																						uc003wtc.2		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(4060-4062)GCG>GCA		retinitis pigmentosa 1-like 1		C		1,3867		0,1,1933	95.0	97.0	96.0		4062	-1.9	0.0	8		96	0,8240		0,0,4120	no	coding-synonymous	RP1L1	NM_178857.5		0,1,6053	TT,TC,CC		0.0,0.0259,0.0083		1354/2401	10467546	1,12107	1934	4120	6054	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10467546C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4062G>A	8.37:g.10467546C>T							p.A1354A	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	4291	-			1354					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.4062G>A	CCDS43708.1																																																																																				0.478	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			34	90	0	0	0	0	34	90				
COL14A1	7373	broad.mit.edu	37	8	121210093	121210093	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr8:121210093G>C	ENST00000297848.3	+	7	906	c.636G>C	c.(634-636)ttG>ttC	p.L212F	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Intron|COL14A1_ENST00000537875.1_Missense_Mutation_p.L212F|COL14A1_ENST00000309791.4_Missense_Mutation_p.L212F	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATGGCACTTGAATGCATTTA	0.388																																						uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(634-636)TTG>TTC		collagen, type XIV, alpha 1 precursor							129.0	128.0	128.0					8																	121210093		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121210093G>C		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.636G>C	8.37:g.121210093G>C	ENSP00000297848:p.Leu212Phe					COL14A1_uc003yoy.2_5'UTR|COL14A1_uc010mde.1_Intron	p.L212F	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		7	901	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		212			VWFA 1.			Missense_Mutation	SNP	ENST00000297848.3	37	c.636G>C	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.718116	0.68844	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000434620	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	5.36	4.46	0.54185	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000001	D	0.90363	0.6984	L	0.41415	1.275	0.45477	D	0.998444	D	0.89917	1.0	D	0.91635	0.999	D	0.91139	0.4944	10	0.59425	D	0.04	.	15.3977	0.74808	0.0:0.0:0.8599:0.1401	.	212	Q05707	COEA1_HUMAN	F	212;212;212;25	ENSP00000443974:L212F;ENSP00000311809:L212F;ENSP00000297848:L212F;ENSP00000409461:L25F	ENSP00000297848:L212F	L	+	3	2	COL14A1	121279274	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	3.543000	0.53633	1.444000	0.47605	0.591000	0.81541	TTG		0.388	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		15	119	0	0	0	0	15	119				
COL22A1	169044	broad.mit.edu	37	8	139696679	139696679	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr8:139696679G>T	ENST00000303045.6	-	39	3447	c.3001C>A	c.(3001-3003)Cta>Ata	p.L1001I	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.L1001I	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1001	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.L1001I(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGGTTCCTAGGGGTCCAGGG	0.488										HNSCC(7;0.00092)																												uc003yvd.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(3001-3003)CTA>ATA		collagen, type XXII, alpha 1							124.0	127.0	126.0					8																	139696679		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139696679G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3001C>A	8.37:g.139696679G>T	ENSP00000303153:p.Leu1001Ile	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.L301I	p.L1001I	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		39	3448	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1001			Pro-rich.|Gly-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3001C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	2.341	-0.351194	0.05173	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93604	-3.25;-3.25	4.0	1.09	0.20402	.	0.648281	0.12582	U	0.456305	D	0.84534	0.5493	N	0.25992	0.78	0.09310	N	1	B;B	0.27882	0.16;0.192	B;B	0.22880	0.025;0.042	T	0.72083	-0.4397	10	0.33940	T	0.23	.	2.8754	0.05629	0.2497:0.0:0.5318:0.2184	.	1001;1001	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	I	1001;1001;714	ENSP00000303153:L1001I;ENSP00000387655:L1001I	ENSP00000303153:L1001I	L	-	1	2	COL22A1	139765861	0.008000	0.16893	0.291000	0.24904	0.206000	0.24218	0.198000	0.17217	0.007000	0.14760	0.448000	0.29417	CTA		0.488	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		52	264	1	0	6.21e-19	7.31e-19	52	264				
SMARCA2	6595	broad.mit.edu	37	9	2086844	2086844	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:2086844A>T	ENST00000382203.1	+	18	2751	c.2542A>T	c.(2542-2544)Atg>Ttg	p.M848L	SMARCA2_ENST00000349721.2_Missense_Mutation_p.M848L|SMARCA2_ENST00000382194.1_Missense_Mutation_p.M848L|SMARCA2_ENST00000357248.2_Missense_Mutation_p.M848L			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	848	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.M848L(1)|p.M844L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GTGGAAATACATGATAGTGGA	0.478																																						uc003zhc.2		NA																	2	Substitution - Missense(2)		upper_aerodigestive_tract(2)	ovary(2)|central_nervous_system(1)	3						c.(2542-2544)ATG>TTG		SWI/SNF-related matrix-associated							84.0	79.0	81.0					9																	2086844		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2086844A>T	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.2542A>T	9.37:g.2086844A>T	ENSP00000371638:p.Met848Leu					SMARCA2_uc003zhd.2_Missense_Mutation_p.M848L|SMARCA2_uc010mha.2_Missense_Mutation_p.M839L	p.M848L	NM_003070	NP_003061	P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	18	2641	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	848			Helicase ATP-binding.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.2542A>T	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	A	18.20	3.572207	0.65765	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86	5.8	5.8	0.92144	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.86456	0.5937	N	0.01242	-0.935	0.80722	D	1	B;P;P	0.40032	0.201;0.65;0.699	B;P;P	0.58130	0.1;0.743;0.833	D	0.90168	0.4233	10	0.48119	T	0.1	-34.1843	16.1547	0.81649	1.0:0.0:0.0:0.0	.	449;848;848	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	L	848	ENSP00000265773:M848L;ENSP00000349788:M848L;ENSP00000371638:M848L;ENSP00000371629:M848L	ENSP00000265773:M848L	M	+	1	0	SMARCA2	2076844	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.273000	0.95719	2.221000	0.72209	0.528000	0.53228	ATG		0.478	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		26	104	0	0	0	0	26	104				
RFX3	5991	broad.mit.edu	37	9	3293119	3293119	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:3293119C>T	ENST00000382004.3	-	7	1000	c.689G>A	c.(688-690)aGa>aAa	p.R230K	RFX3_ENST00000302303.1_Missense_Mutation_p.R230K|RFX3_ENST00000358730.2_Missense_Mutation_p.R230K	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	230					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		AAAAATTGATCTTATTAATTT	0.408																																						uc003zhr.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(688-690)AGA>AAA		regulatory factor X3 isoform b							106.0	107.0	107.0					9																	3293119		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3293119C>T	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.689G>A	9.37:g.3293119C>T	ENSP00000371434:p.Arg230Lys					RFX3_uc010mhd.2_Missense_Mutation_p.R230K|RFX3_uc003zhs.1_Missense_Mutation_p.R230K|RFX3_uc003zht.1_Missense_Mutation_p.R230K|RFX3_uc010mhe.1_Missense_Mutation_p.R205K	p.R230K	NM_134428	NP_602304	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	7	1001	-			230			RFX-type winged-helix.		A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.689G>A	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	C	33	5.251919	0.95336	.	.	ENSG00000080298	ENST00000382004;ENST00000381992;ENST00000358730;ENST00000302303;ENST00000457373	D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72	5.56	4.66	0.58398	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.000000	0.85682	D	0.000000	D	0.89687	0.6787	M	0.67517	2.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.996;0.996	D	0.90294	0.4325	10	0.59425	D	0.04	-11.9341	14.6753	0.68975	0.0:0.9299:0.0:0.0701	.	205;230;230;230	B1ANP5;P48380-3;P48380-2;P48380	.;.;.;RFX3_HUMAN	K	230;205;230;230;205	ENSP00000371434:R230K;ENSP00000351574:R230K;ENSP00000303847:R230K;ENSP00000405664:R205K	ENSP00000303847:R230K	R	-	2	0	RFX3	3283119	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.743000	0.85020	1.354000	0.45846	0.585000	0.79938	AGA		0.408	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		19	91	0	0	0	0	19	91				
RIC1	57589	broad.mit.edu	37	9	5713936	5713936	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:5713936G>C	ENST00000414202.2	+	4	564	c.373G>C	c.(373-375)Gaa>Caa	p.E125Q	KIAA1432_ENST00000381532.2_Missense_Mutation_p.E46Q|KIAA1432_ENST00000251879.6_Missense_Mutation_p.E125Q|KIAA1432_ENST00000418622.3_Missense_Mutation_p.E46Q|KIAA1432_ENST00000449720.2_Missense_Mutation_p.E46Q	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TTTTAAGGAAGAACAGTGTGC	0.393																																						uc003zji.2		NA																	0					0						c.(136-138)GAA>CAA		connexin 43-interacting protein 150 isoform a							127.0	123.0	124.0					9																	5713936		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5713936G>C																												ENST00000414202.2:c.373G>C	9.37:g.5713936G>C	ENSP00000416696:p.Glu125Gln					KIAA1432_uc003zjh.2_Missense_Mutation_p.E46Q|KIAA1432_uc003zjl.3_Missense_Mutation_p.E46Q|KIAA1432_uc003zjj.1_5'UTR	p.E46Q	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	3	229	+		Acute lymphoblastic leukemia(23;0.154)	125						Missense_Mutation	SNP	ENST00000414202.2	37	c.136G>C	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.49|16.49	3.137044|3.137044	0.56936|0.56936	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720|ENST00000545641	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	WD40 repeat-like-containing domain (1);|.	0.049290|.	0.85682|.	D|.	0.000000|.	T|T	0.67562|0.67562	0.2906|0.2906	L|L	0.40543|0.40543	1.245|1.245	0.58432|0.58432	D|D	0.999999|0.999999	B;B;B|.	0.33637|.	0.296;0.296;0.42|.	B;B;B|.	0.36186|.	0.109;0.109;0.219|.	T|T	0.61202|0.61202	-0.7110|-0.7110	9|5	0.14656|.	T|.	0.56|.	-15.8883|-15.8883	20.0114|20.0114	0.97452|0.97452	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	46;125;125|.	B7ZM67;Q4ADV7;G5E932|.	.;RIC1_HUMAN;.|.	Q|T	125;125;46;46;46|53	.|.	ENSP00000251879:E125Q|.	E|R	+|+	1|2	0|0	KIAA1432|KIAA1432	5703936|5703936	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.627000|8.627000	0.90974|0.90974	2.795000|2.795000	0.96236|0.96236	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.393	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			16	73	0	0	0	0	16	73				
PTPRD	5789	broad.mit.edu	37	9	8633337	8633337	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:8633337G>T	ENST00000381196.4	-	11	875	c.332C>A	c.(331-333)aCc>aAc	p.T111N	PTPRD_ENST00000486161.1_Missense_Mutation_p.T111N|PTPRD_ENST00000358503.5_Missense_Mutation_p.T111N|PTPRD_ENST00000463477.1_Missense_Mutation_p.T111N|PTPRD_ENST00000355233.5_Missense_Mutation_p.T111N|PTPRD_ENST00000360074.4_Missense_Mutation_p.T111N|PTPRD_ENST00000540109.1_Missense_Mutation_p.T111N|PTPRD_ENST00000397617.3_Missense_Mutation_p.T111N|PTPRD_ENST00000397611.3_Missense_Mutation_p.T111N|PTPRD_ENST00000397606.3_Missense_Mutation_p.T111N|PTPRD_ENST00000537002.1_Missense_Mutation_p.T111N|PTPRD_ENST00000356435.5_Missense_Mutation_p.T111N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	111	Ig-like C2-type 1.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGTGAGTCTGGTGGATACACT	0.423										TSP Lung(15;0.13)																												uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(331-333)ACC>AAC		protein tyrosine phosphatase, receptor type, D							200.0	162.0	175.0					9																	8633337		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8633337G>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.332C>A	9.37:g.8633337G>T	ENSP00000370593:p.Thr111Asn	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.T111N|PTPRD_uc003zkq.2_Missense_Mutation_p.T111N|PTPRD_uc003zkr.2_Missense_Mutation_p.T111N|PTPRD_uc003zks.2_Missense_Mutation_p.T111N|PTPRD_uc003zkl.2_Missense_Mutation_p.T111N|PTPRD_uc003zkm.2_Missense_Mutation_p.T111N|PTPRD_uc003zkn.2_Missense_Mutation_p.T111N|PTPRD_uc003zko.2_Missense_Mutation_p.T111N|PTPRD_uc003zkt.1_Missense_Mutation_p.T111N	p.T111N	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	13	1043	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	111			Ig-like C2-type 1.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.332C>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	35	5.425675	0.96131	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606;ENST00000463477	T;T;T;T;T;T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	6.05	6.05	0.98169	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77432	0.4129	L	0.43152	1.355	0.80722	D	1	D;P;P;P;P;P;P;B;P;P	0.71674	0.998;0.821;0.821;0.956;0.905;0.827;0.786;0.238;0.84;0.57	D;P;P;P;P;P;P;P;P;B	0.70487	0.969;0.848;0.848;0.848;0.848;0.533;0.764;0.489;0.65;0.443	T	0.72730	-0.4205	9	.	.	.	.	20.5989	0.99451	0.0:0.0:1.0:0.0	.	111;111;111;111;111;111;111;111;111;111	C9J8S8;Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;.;PTPRD_HUMAN	N	111	ENSP00000370593:T111N;ENSP00000348812:T111N;ENSP00000353187:T111N;ENSP00000351293:T111N;ENSP00000347373:T111N;ENSP00000380741:T111N;ENSP00000380735:T111N;ENSP00000440515:T111N;ENSP00000438164:T111N;ENSP00000417093:T111N;ENSP00000380731:T111N;ENSP00000417661:T111N	.	T	-	2	0	PTPRD	8623337	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.805000	0.99149	2.871000	0.98454	0.637000	0.83480	ACC		0.423	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			34	108	1	0	6.97e-18	8.16e-18	34	108				
UNC13B	10497	broad.mit.edu	37	9	35403770	35403770	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:35403770G>A	ENST00000378495.3	+	39	4738	c.4516G>A	c.(4516-4518)Gag>Aag	p.E1506K	ATP8B5P_ENST00000430846.1_RNA|UNC13B_ENST00000378496.4_Missense_Mutation_p.E1525K|UNC13B_ENST00000396787.1_Missense_Mutation_p.E1537K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1506	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGGGGCCCGAGTCCTATGA	0.552																																						uc003zwq.2		NA																	0				ovary(3)|large_intestine(1)|skin(1)	5						c.(4516-4518)GAG>AAG		UNC13 (C. elegans)-like							68.0	65.0	66.0					9																	35403770		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35403770G>A	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.4516G>A	9.37:g.35403770G>A	ENSP00000367756:p.Glu1506Lys					UNC13B_uc003zwr.2_Missense_Mutation_p.E1525K|ATP8B5P_uc010mkn.1_5'Flank|ATP8B5P_uc010mko.2_5'Flank|ATP8B5P_uc010mkp.2_5'Flank|ATP8B5P_uc003zwu.2_5'Flank	p.E1506K	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		39	4808	+	all_epithelial(49;0.212)		1506			C2 3.		Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.4516G>A	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491808	0.64074	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	T;T;T	0.69175	-0.38;-0.38;-0.38	5.93	5.93	0.95920	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.270493	0.40554	N	0.001071	T	0.67599	0.2910	M	0.76938	2.355	0.50171	D	0.999856	P;B	0.34815	0.47;0.09	B;B	0.24974	0.057;0.032	T	0.67209	-0.5728	10	0.34782	T	0.22	-26.1097	20.3368	0.98748	0.0:0.0:1.0:0.0	.	1525;1506	F8W8M9;O14795	.;UN13B_HUMAN	K	1537;1506;1525;1112	ENSP00000380006:E1537K;ENSP00000367756:E1506K;ENSP00000367757:E1525K	ENSP00000367756:E1506K	E	+	1	0	UNC13B	35393770	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.863000	0.87023	2.805000	0.96524	0.655000	0.94253	GAG		0.552	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		18	54	0	0	0	0	18	54				
FRMD3	257019	broad.mit.edu	37	9	86153021	86153021	+	Silent	SNP	C	C	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:86153021C>A	ENST00000304195.3	-	1	332	c.126G>T	c.(124-126)tcG>tcT	p.S42S	FRMD3_ENST00000376438.1_Silent_p.S42S	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	42	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AGGAGATCTCCGAGTCGTCCA	0.652																																						uc004ams.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(124-126)TCG>TCT		FERM domain containing 3							24.0	30.0	28.0					9																	86153021		2033	4174	6207	SO:0001819	synonymous_variant	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:86153021C>A	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.126G>T	9.37:g.86153021C>A						FRMD3_uc004amr.1_Silent_p.S28S	p.S42S	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN			1	328	-			42			FERM.		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Silent	SNP	ENST00000304195.3	37	c.126G>T	CCDS43840.1																																																																																				0.652	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		6	30	1	0	0.00116845	0.00123586	6	30				
ZNF883	169834	broad.mit.edu	37	9	115760233	115760233	+	lincRNA	SNP	C	C	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:115760233C>A	ENST00000427548.1	-	0	1580							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AAGGTTTTTTCACATTCATTA	0.378																																						uc011lwy.1		NA																	0					0						c.(307-309)GAA>TAA		hypothetical protein LOC169834							71.0	79.0	76.0					9																	115760233		2170	4279	6449			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115760233C>A	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115760233C>A							p.E103*	NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN			5	1546	-			103			C2H2-type 4.			Nonsense_Mutation	SNP	ENST00000427548.1	37	c.307G>T																																																																																					0.378	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338		13	62	1	0	9.31e-06	1.02e-05	13	62				
OR1L4	254973	broad.mit.edu	37	9	125486771	125486771	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:125486771C>G	ENST00000259466.1	+	1	503	c.503C>G	c.(502-504)tCt>tGt	p.S168C		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TCTCGCTTGTCTTTCTGTGCC	0.498																																						uc004bmu.1		NA																	0					0						c.(502-504)TCT>TGT		olfactory receptor, family 1, subfamily L,							174.0	160.0	165.0					9																	125486771		2203	4294	6497	SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486771C>G		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.503C>G	9.37:g.125486771C>G	ENSP00000259466:p.Ser168Cys						p.S168C	NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN			1	503	+			168			Extracellular (Potential).		Q6IFN0|Q96R81	Missense_Mutation	SNP	ENST00000259466.1	37	c.503C>G	CCDS35129.1	.	.	.	.	.	.	.	.	.	.	.	12.12	1.843484	0.32606	.	.	ENSG00000136939	ENST00000259466	T	0.00029	8.91	4.01	4.01	0.46588	GPCR, rhodopsin-like superfamily (1);	0.123815	0.37219	N	0.002190	T	0.00328	0.0010	M	0.82056	2.57	0.33137	D	0.543875	D	0.60160	0.987	P	0.61800	0.894	T	0.58239	-0.7671	10	0.66056	D	0.02	-12.7608	9.5777	0.39468	0.0:0.8965:0.0:0.1035	.	168	Q8NGR5	OR1L4_HUMAN	C	168	ENSP00000259466:S168C	ENSP00000259466:S168C	S	+	2	0	OR1L4	124526592	0.018000	0.18449	0.996000	0.52242	0.507000	0.33981	2.724000	0.47285	2.079000	0.62486	0.298000	0.19748	TCT		0.498	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			20	305	0	0	0	0	20	305				
NUP214	8021	broad.mit.edu	37	9	134010311	134010311	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:134010311A>G	ENST00000359428.5	+	8	1002	c.858A>G	c.(856-858)atA>atG	p.I286M	RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.I286M|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.I286M|RP11-544A12.4_ENST00000589667.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	286	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.I286M(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ACCCAGAGATATTTGTGAACT	0.398			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.2		NA		Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(856-858)ATA>ATG		nucleoporin 214kDa							74.0	72.0	73.0					9																	134010311		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134010311A>G	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.858A>G	9.37:g.134010311A>G	ENSP00000352400:p.Ile286Met					NUP214_uc004cah.2_Missense_Mutation_p.I286M|NUP214_uc004caf.1_Missense_Mutation_p.I286M	p.I286M	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	8	969	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	286					A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.858A>G	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	A	15.86	2.957719	0.53400	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375	D;D;D	0.92805	-3.11;-3.11;-3.11	5.69	-6.97	0.01616	WD40/YVTN repeat-like-containing domain (1);	0.937934	0.08707	N	0.905541	T	0.76314	0.3970	N	0.02802	-0.49	0.22701	N	0.998836	B;B	0.06786	0.001;0.001	B;B	0.10450	0.005;0.005	T	0.63625	-0.6595	10	0.45353	T	0.12	-8.1292	7.7884	0.29106	0.2465:0.3087:0.4447:0.0	.	286;286	P35658-4;P35658	.;NU214_HUMAN	M	286	ENSP00000352400:I286M;ENSP00000396576:I286M;ENSP00000405014:I286M	ENSP00000352400:I286M	I	+	3	3	NUP214	133000132	0.612000	0.27000	0.283000	0.24790	0.990000	0.78478	-0.221000	0.09202	-1.022000	0.03346	0.528000	0.53228	ATA		0.398	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		13	73	0	0	0	0	13	73				
SETX	23064	broad.mit.edu	37	9	135140296	135140296	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:135140296T>C	ENST00000224140.5	-	26	7546	c.7364A>G	c.(7363-7365)tAt>tGt	p.Y2455C	SETX_ENST00000393220.1_Missense_Mutation_p.Y2422C|SETX_ENST00000372169.2_Missense_Mutation_p.Y2484C|SETX_ENST00000477049.1_5'UTR	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2455					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.Y2455C(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATCATGTCTATAGTTTTTGTC	0.478																																						uc004cbk.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)|skin(1)	3						c.(7363-7365)TAT>TGT		senataxin							95.0	98.0	97.0					9																	135140296		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135140296T>C	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.7364A>G	9.37:g.135140296T>C	ENSP00000224140:p.Tyr2455Cys					SETX_uc004cbj.2_Missense_Mutation_p.Y2103C|SETX_uc010mzt.2_Missense_Mutation_p.Y2041C	p.Y2455C	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	26	7547	-		Myeloproliferative disorder(178;0.204)	2455					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.7364A>G	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.580710	0.65992	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.93019	-2.25;-3.15;-2.68;-1.9	4.83	4.83	0.62350	.	0.084072	0.50627	D	0.000118	D	0.96128	0.8738	M	0.73598	2.24	0.42079	D	0.991248	D;D;D	0.89917	0.971;1.0;1.0	P;D;D	0.91635	0.822;0.996;0.999	D	0.96673	0.9498	10	0.72032	D	0.01	.	13.5306	0.61619	0.0:0.0:0.0:1.0	.	2422;2455;2484	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	C	2455;726;2484;2422	ENSP00000224140:Y2455C;ENSP00000409143:Y726C;ENSP00000361242:Y2484C;ENSP00000376913:Y2422C	ENSP00000224140:Y2455C	Y	-	2	0	SETX	134130117	1.000000	0.71417	0.827000	0.32855	0.887000	0.51463	5.490000	0.66881	1.933000	0.56026	0.459000	0.35465	TAT		0.478	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		58	117	0	0	0	0	58	117				
PPP1R26	9858	broad.mit.edu	37	9	138377934	138377934	+	Silent	SNP	C	C	T			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr9:138377934C>T	ENST00000356818.2	+	4	2127	c.1578C>T	c.(1576-1578)agC>agT	p.S526S	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Silent_p.S526S|PPP1R26_ENST00000605660.1_Silent_p.S526S|PPP1R26_ENST00000401470.3_Silent_p.S526S|PPP1R26_ENST00000605286.1_Silent_p.S526S	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	526					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GCGACAGTAGCTCCGTGGACA	0.627																																						uc004cfr.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1576-1578)AGC>AGT		1A6/DRIM (down-regulated in metastasis)							87.0	86.0	86.0					9																	138377934		2203	4300	6503	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138377934C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.1578C>T	9.37:g.138377934C>T							p.S526S	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)	4	2127	+			526					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.1578C>T	CCDS6988.1																																																																																				0.627	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		6	200	0	0	0	0	6	200				
AMER1	139285	broad.mit.edu	37	X	63411781	63411781	+	Silent	SNP	T	T	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chrX:63411781T>C	ENST00000330258.3	-	2	1658	c.1386A>G	c.(1384-1386)gaA>gaG	p.E462E	AMER1_ENST00000374869.3_Silent_p.E462E|AMER1_ENST00000403336.1_Silent_p.E462E	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	462					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.E462E(1)									TGGGGGCGGATTCTTGCTGGT	0.547																																						uc004dvo.2		NA																	68	Whole gene deletion(67)|Substitution - coding silent(1)	p.0?(40)	kidney(65)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(1384-1386)GAA>GAG		family with sequence similarity 123B							95.0	71.0	79.0					X																	63411781		2203	4300	6503	SO:0001819	synonymous_variant	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63411781T>C	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1386A>G	X.37:g.63411781T>C							p.E462E	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	1659	-			462					A2IB86|Q8N885	Silent	SNP	ENST00000330258.3	37	c.1386A>G	CCDS14377.2																																																																																				0.547	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		15	23	0	0	0	0	15	23				
HDX	139324	broad.mit.edu	37	X	83599378	83599378	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chrX:83599378G>C	ENST00000297977.5	-	6	1651	c.1540C>G	c.(1540-1542)Cag>Gag	p.Q514E	HDX_ENST00000373177.2_Missense_Mutation_p.Q514E|HDX_ENST00000506585.2_Missense_Mutation_p.Q456E	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	514						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q514E(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GACTCAGGCTGCTCAGAGAAA	0.448																																					Pancreas(53;231 1169 36156 43751 51139)	uc004eek.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1540-1542)CAG>GAG		highly divergent homeobox							84.0	80.0	81.0					X																	83599378		2203	4299	6502	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83599378G>C	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1540C>G	X.37:g.83599378G>C	ENSP00000297977:p.Gln514Glu					HDX_uc011mqv.1_Missense_Mutation_p.Q514E|HDX_uc004eel.1_Missense_Mutation_p.Q456E	p.Q514E	NM_144657	NP_653258	Q7Z353	HDX_HUMAN			6	1649	-			514					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.1540C>G	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594640	0.66219	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.44083	0.93;0.93;0.93	5.47	5.47	0.80525	.	0.289183	0.35555	N	0.003123	T	0.32852	0.0843	L	0.29908	0.895	0.40582	D	0.981408	B	0.30741	0.293	B	0.22386	0.039	T	0.17018	-1.0383	10	0.52906	T	0.07	-21.3982	16.5704	0.84611	0.0:0.0:1.0:0.0	.	514	Q7Z353	HDX_HUMAN	E	514;456;514	ENSP00000297977:Q514E;ENSP00000362272:Q456E;ENSP00000423670:Q514E	ENSP00000297977:Q514E	Q	-	1	0	HDX	83486034	1.000000	0.71417	0.979000	0.43373	0.451000	0.32288	7.771000	0.85420	2.285000	0.76669	0.600000	0.82982	CAG		0.448	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		24	25	0	0	0	0	24	25				
CPXCR1	53336	broad.mit.edu	37	X	88008565	88008565	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chrX:88008565C>A	ENST00000276127.4	+	3	409	c.150C>A	c.(148-150)aaC>aaA	p.N50K	CPXCR1_ENST00000373111.1_Missense_Mutation_p.N50K	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	50							metal ion binding (GO:0046872)	p.N50K(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						ACCCAATAAACAGGGAGCCAG	0.443																																						uc004efd.3		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(3)	3						c.(148-150)AAC>AAA		CPX chromosome region, candidate 1							43.0	41.0	42.0					X																	88008565		2203	4300	6503	SO:0001583	missense	53336					intracellular	zinc ion binding	g.chrX:88008565C>A	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.150C>A	X.37:g.88008565C>A	ENSP00000276127:p.Asn50Lys					CPXCR1_uc004efc.3_Missense_Mutation_p.N50K	p.N50K	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN			3	409	+			50					B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	c.150C>A	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192313	0.38707	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.26660	1.72;1.72	3.43	-4.29	0.03721	.	1.341310	0.05257	N	0.515034	T	0.13415	0.0325	L	0.27053	0.805	0.09310	N	1	B	0.27656	0.184	B	0.19666	0.026	T	0.16541	-1.0399	9	.	.	.	.	3.3331	0.07092	0.4421:0.2045:0.0:0.3534	.	50	Q8N123	CPXCR_HUMAN	K	50	ENSP00000276127:N50K;ENSP00000362203:N50K	.	N	+	3	2	CPXCR1	87895221	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.430000	0.06973	-1.327000	0.02264	-0.390000	0.06520	AAC		0.443	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		7	7	1	0	0.00198382	0.00208325	7	7				
ESX1	80712	broad.mit.edu	37	X	103498950	103498950	+	Missense_Mutation	SNP	C	C	T	rs375606449		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chrX:103498950C>T	ENST00000372588.4	-	2	474	c.391G>A	c.(391-393)Gag>Aag	p.E131K		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	131					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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 (GO:0043565)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TGTGGTCCCTCAGCGGTTTGT	0.647																																					Pancreas(200;1705 2227 25194 28471 45274)	uc004ely.2		NA																	0				ovary(1)	1						c.(391-393)GAG>AAG		extraembryonic, spermatogenesis, homeobox		C	LYS/GLU	0,3835		0,0,1632,571	29.0	30.0	29.0		391	0.6	0.0	X		29	1,6725		0,1,2427,1870	no	missense	ESX1	NM_153448.3	56	0,1,4059,2441	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging	131/407	103498950	1,10560	2203	4298	6501	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103498950C>T	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.391G>A	X.37:g.103498950C>T	ENSP00000361669:p.Glu131Lys						p.E131K	NM_153448	NP_703149	Q8N693	ESX1_HUMAN			2	449	-			131					B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.391G>A	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	c	13.22	2.171279	0.38315	0.0	1.49E-4	ENSG00000123576	ENST00000372588	D	0.90900	-2.75	0.638	0.638	0.17742	Homeodomain-related (1);Homeodomain-like (1);	.	.	.	.	D	0.83617	0.5293	N	0.08118	0	0.09310	N	1	P	0.46578	0.88	P	0.50270	0.636	T	0.74902	-0.3506	8	0.56958	D	0.05	-2.8474	.	.	.	.	131	Q8N693	ESX1_HUMAN	K	131	ENSP00000361669:E131K	ENSP00000361669:E131K	E	-	1	0	ESX1	103385606	0.033000	0.19621	0.006000	0.13384	0.049000	0.14656	1.012000	0.29924	0.580000	0.29522	0.458000	0.33432	GAG		0.647	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		4	27	0	0	0	0	4	27				
XPNPEP2	7512	broad.mit.edu	37	X	128881676	128881676	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chrX:128881676A>G	ENST00000371106.3	+	7	776	c.584A>G	c.(583-585)gAg>gGg	p.E195G		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	195						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.E195G(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TGGGGATCAGAGAGGCCACCG	0.522																																						uc004eut.1		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(583-585)GAG>GGG		X-prolyl aminopeptidase 2, membrane-bound							140.0	117.0	125.0					X																	128881676		2203	4299	6502	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128881676A>G	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.584A>G	X.37:g.128881676A>G	ENSP00000360147:p.Glu195Gly					XPNPEP2_uc011mum.1_Missense_Mutation_p.E195G	p.E195G	NM_003399	NP_003390	O43895	XPP2_HUMAN			7	828	+			195					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.584A>G	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.645926	0.29246	.	.	ENSG00000122121	ENST00000371106	T	0.75260	-0.92	4.82	3.67	0.42095	.	0.621026	0.17433	N	0.174414	T	0.65801	0.2726	L	0.56124	1.755	0.27779	N	0.943234	B;B	0.14805	0.011;0.002	B;B	0.08055	0.003;0.002	T	0.61633	-0.7023	10	0.72032	D	0.01	-2.4403	5.6317	0.17514	0.8777:0.0:0.1223:0.0	.	195;195	B4DV70;O43895	.;XPP2_HUMAN	G	195	ENSP00000360147:E195G	ENSP00000360147:E195G	E	+	2	0	XPNPEP2	128709357	0.887000	0.30362	0.856000	0.33681	0.396000	0.30629	2.048000	0.41278	1.584000	0.49913	0.417000	0.27973	GAG		0.522	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		18	35	0	0	0	0	18	35				
PPCS	79717	broad.mit.edu	37	1	42925463	42925463	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:42925463delT	ENST00000372561.3	+	3	809	c.802delT	c.(802-804)tttfs	p.F268fs	PPCS_ENST00000372562.1_Frame_Shift_Del_p.F95fs|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372556.3_3'UTR|PPCS_ENST00000455780.1_Frame_Shift_Del_p.F95fs	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	268					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	phosphopantothenate--cysteine ligase activity (GO:0004632)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTCCTTTGTGTTTATTGTAAC	0.408																																						uc001chl.2		NA																	0					0						c.(802-804)TTTfs		phosphopantothenoylcysteine synthetase isoform							123.0	116.0	118.0					1																	42925463		1861	4104	5965	SO:0001589	frameshift_variant	79717				coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity	g.chr1:42925463delT	AK021900	CCDS41311.1, CCDS41312.1	1p34.2	2008-02-05			ENSG00000127125	ENSG00000127125	6.3.2.5		25686	protein-coding gene	gene with protein product		609853				11923312	Standard	NM_024664		Approved	FLJ11838	uc001chl.3	Q9HAB8	OTTHUMG00000007332	ENST00000372561.3:c.802delT	1.37:g.42925463delT	ENSP00000361642:p.Phe268fs					PPCS_uc001chk.2_Frame_Shift_Del_p.F95fs	p.F268fs	NM_024664	NP_078940	Q9HAB8	PPCS_HUMAN			3	866	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	268					Q3KQT2|Q5VVM0	Frame_Shift_Del	DEL	ENST00000372561.3	37	c.802delT	CCDS41311.1																																																																																				0.408	PPCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019166.1	NM_024664		26	203	NA	NA	NA	NA	26	203	---	---	---	---
TMEM63A	9725	broad.mit.edu	37	1	226047034	226047035	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr1:226047034_226047035insA	ENST00000366835.3	-	15	1508_1509	c.1238_1239insT	c.(1237-1239)atcfs	p.I413fs	TMEM63A_ENST00000474478.1_5'Flank	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	413					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GGAGGCCCTGGATAGAGAGGTT	0.574																																						uc001hpm.1		NA																	0				ovary(1)|breast(1)	2						c.(1237-1239)ATCfs		transmembrane protein 63A																																				SO:0001589	frameshift_variant	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226047034_226047035insA		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1239dupT	1.37:g.226047035_226047035dupA	ENSP00000355800:p.Ile413fs						p.I413fs	NM_014698	NP_055513	O94886	TM63A_HUMAN			15	1488_1489	-	Breast(184;0.197)		413					Q53GI7|Q5TE96|Q8N2U2	Frame_Shift_Ins	INS	ENST00000366835.3	37	c.1238_1239insT	CCDS31042.1																																																																																				0.574	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		10	72	NA	NA	NA	NA	10	72	---	---	---	---
FHOD1	29109	broad.mit.edu	37	16	67271255	67271256	+	Frame_Shift_Ins	INS	-	-	GGAGTCC			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr16:67271255_67271256insGGAGTCC	ENST00000258201.4	-	9	1126_1127	c.879_880insGGACTCC	c.(877-882)tccttcfs	p.F294fs		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	294	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ACATCGTAGAAGGAGTCCTGGT	0.663																																						uc002esl.2		NA																	0				breast(2)|ovary(1)	3						c.(877-882)TCCTTCfs		formin homology 2 domain containing 1																																				SO:0001589	frameshift_variant	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67271255_67271256insGGAGTCC	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.873_879dupGGACTCC	16.37:g.67271256_67271262dupGGAGTCC	ENSP00000258201:p.Phe294fs					FHOD1_uc010ced.2_Frame_Shift_Ins_p.S100fs|FHOD1_uc010vjh.1_5'UTR	p.S293fs	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	9	991_992	-		Ovarian(137;0.0563)	293_294			GBD/FH3.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Frame_Shift_Ins	INS	ENST00000258201.4	37	c.879_880insGGACTCC	CCDS10834.1																																																																																				0.663	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			10	93	NA	NA	NA	NA	10	93	---	---	---	---
ARHGEF18	23370	broad.mit.edu	37	19	7535174	7535176	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr19:7535174_7535176delTCT	ENST00000359920.6	+	19	3765_3767	c.3512_3514delTCT	c.(3511-3516)atcttc>atc	p.F1173del	ARHGEF18_ENST00000319670.9_In_Frame_Del_p.F1015del	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	1173					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GAAGACGTCATCTTCTTCTAAAA	0.675																																						uc002mgi.2		NA																	0				ovary(1)	1						c.(3511-3516)ATCTTC>ATC		Rho/Rac guanine nucleotide exchange factor 18																																				SO:0001651	inframe_deletion	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7535174_7535176delTCT	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.3512_3514delTCT	19.37:g.7535180_7535182delTCT	ENSP00000352995:p.Phe1173del					ARHGEF18_uc010xjm.1_In_Frame_Del_p.F1015del|ARHGEF18_uc002mgh.2_In_Frame_Del_p.F1015del|ARHGEF18_uc002mgj.1_In_Frame_Del_p.F810del	p.F1173del	NM_001130955	NP_001124427	Q6ZSZ5	ARHGI_HUMAN			19	3765_3767	+		Renal(5;0.0902)	1173					A8MV62|B5ME81|O60274|Q6DD92	In_Frame_Del	DEL	ENST00000359920.6	37	c.3512_3514delTCT	CCDS45946.1																																																																																				0.675	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		18	60	NA	NA	NA	NA	18	60	---	---	---	---
FBXO11	80204	broad.mit.edu	37	2	48035326	48035327	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr2:48035326_48035327insGG	ENST00000403359.3	-	23	2786_2787	c.2714_2715insCC	c.(2713-2715)cctfs	p.P905fs	FBXO11_ENST00000316377.4_Frame_Shift_Ins_p.P821fs|FBXO11_ENST00000434523.2_Frame_Shift_Ins_p.P329fs|MSH6_ENST00000234420.5_3'UTR|FBXO11_ENST00000405808.1_Intron|FBXO11_ENST00000402508.1_Frame_Shift_Ins_p.P821fs	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	905					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TATCATGTGTAGGCTCACCAGC	0.401			"""Mis, F, D"""		DLBCL																																	uc010fbl.2		NA		Rec	yes		2	2p16.3	80204		F-box protein 11			L					2	Whole gene deletion(2)		haematopoietic_and_lymphoid_tissue(2)	ovary(1)|lung(1)	2						c.(2461-2463)CCTfs		F-box only protein 11 isoform 1																																				SO:0001589	frameshift_variant	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48035326_48035327insGG	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2713_2714dupCC	2.37:g.48035327_48035328dupGG	ENSP00000384823:p.Pro905fs					FBXO11_uc002rwe.2_Frame_Shift_Ins_p.P821fs|FBXO11_uc010fbk.2_Frame_Shift_Ins_p.P329fs	p.P821fs	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		23	2576_2577	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	905					A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Frame_Shift_Ins	INS	ENST00000403359.3	37	c.2462_2463insCC	CCDS54357.1																																																																																				0.401	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		36	142	NA	NA	NA	NA	36	142	---	---	---	---
HAVCR2	84868	broad.mit.edu	37	5	156522408	156522434	+	In_Frame_Del	DEL	AGAGTCCCGTAAGTCATTGGCCAATCT	AGAGTCCCGTAAGTCATTGGCCAATCT	-	rs201195681|rs374018243|rs377660703		TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr5:156522408_156522434delAGAGTCCCGTAAGTCATTGGCCAATCT	ENST00000307851.4	-	5	1289_1315	c.559_585delAGATTGGCCAATGACTTACGGGACTCT	c.(559-585)agattggccaatgacttacgggactctdel	p.RLANDLRDS187del	HAVCR2_ENST00000522593.1_In_Frame_Del_p.RLANDLRDS159del	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	187						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S195C(1)		cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGTTGCTCCAGAGTCCCGTAAGTCATTGGCCAATCTAGAGTCCCGT	0.445																																						uc003lwk.1		NA																	1	Substitution - Missense(1)		cervix(1)		0						c.(559-585)AGATTGGCCAATGACTTACGGGACTCTdel		T cell immunoglobulin mucin 3 precursor																																				SO:0001651	inframe_deletion	84868					integral to membrane		g.chr5:156522408_156522434delAGAGTCCCGTAAGTCATTGGCCAATCT	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.559_585delAGATTGGCCAATGACTTACGGGACTCT	5.37:g.156522408_156522434delAGAGTCCCGTAAGTCATTGGCCAATCT	ENSP00000312002:p.Arg187_Ser195del						p.RLANDLRDS187del	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		5	703_729	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	187_195			Extracellular (Potential).		B2RAY2|Q8WW60|Q96K94	In_Frame_Del	DEL	ENST00000307851.4	37	c.559_585delAGATTGGCCAATGACTTACGGGACTCT	CCDS4333.1																																																																																				0.445	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			16	117	NA	NA	NA	NA	16	117	---	---	---	---
TBRG4	9238	broad.mit.edu	37	7	45148633	45148634	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5364-01A-01D-1434-08	TCGA-CN-5364-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	22078e53-2c9e-4ae4-a166-34488f259ee8	61c617cf-d908-481e-ad7e-868408ce8e2c	g.chr7:45148633_45148634insA	ENST00000258770.3	-	2	324_325	c.203_204insT	c.(202-204)atafs	p.I68fs	TBRG4_ENST00000395655.4_Frame_Shift_Ins_p.I68fs|SNORA5B_ENST00000363786.1_RNA|TBRG4_ENST00000361278.3_Frame_Shift_Ins_p.I68fs|TBRG4_ENST00000494076.1_Frame_Shift_Ins_p.I68fs|TBRG4_ENST00000471142.1_5'UTR	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	68					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CCTGCTTCTCTATGTAGGGAGT	0.554																																						uc003tmv.2		NA																	0					0						c.(202-204)ATAfs		cell cycle progression 2 protein isoform 1																																				SO:0001589	frameshift_variant	9238				apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity	g.chr7:45148633_45148634insA	AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"""FAST kinase domains 4"", ""cell cycle progression 2 protein"""	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.204dupT	7.37:g.45148634_45148634dupA	ENSP00000258770:p.Ile68fs					TBRG4_uc003tmu.2_5'Flank|TBRG4_uc003tmw.2_Frame_Shift_Ins_p.I68fs|TBRG4_uc003tmx.2_Frame_Shift_Ins_p.I68fs|TBRG4_uc011kcd.1_Frame_Shift_Ins_p.I79fs|SNORA5B_uc003tna.3_5'Flank	p.I68fs	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN			2	329_330	-			68					A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Frame_Shift_Ins	INS	ENST00000258770.3	37	c.203_204insT	CCDS5501.1																																																																																				0.554	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251351.1	NM_030900		34	108	NA	NA	NA	NA	34	108	---	---	---	---
