#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
AJAP1	55966	broad.mit.edu	37	1	4829977	4829977	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:4829977C>T	ENST00000378191.4	+	3	1275	c.894C>T	c.(892-894)atC>atT	p.I298I	AJAP1_ENST00000378190.3_Silent_p.I298I	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	298					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTGCTCTCATCACAACTCTTG	0.537																																						uc001alm.1		NA																	0				lung(1)	1						c.(892-894)ATC>ATT		adherens junction associated protein 1							199.0	188.0	192.0					1																	4829977		2203	4300	6503	SO:0001819	synonymous_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4829977C>T	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.894C>T	1.37:g.4829977C>T						AJAP1_uc001aln.2_Silent_p.I298I	p.I298I	NM_001042478	NP_001035943	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	3	1275	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	298			Helical; Signal-anchor for type III membrane protein; (Potential).		Q9Y229	Silent	SNP	ENST00000378191.4	37	c.894C>T	CCDS54.1																																																																																				0.537	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		40	149	0	0	0	0	40	149				
EXTL1	2134	broad.mit.edu	37	1	26360245	26360245	+	Missense_Mutation	SNP	C	C	T	rs372060207		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:26360245C>T	ENST00000374280.3	+	9	2444	c.1577C>T	c.(1576-1578)aCg>aTg	p.T526M		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	526					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)	p.T526M(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTCCTGACGTCGAGCCAT	0.582																																						uc001blf.2		NA																	1	Substitution - Missense(1)		endometrium(1)	central_nervous_system(1)	1						c.(1576-1578)ACG>ATG		exostoses-like 1		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	130.0	121.0	124.0		1577	4.9	0.9	1		124	0,8600		0,0,4300	no	missense	EXTL1	NM_004455.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	526/677	26360245	1,13005	2203	4300	6503	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26360245C>T	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1577C>T	1.37:g.26360245C>T	ENSP00000363398:p.Thr526Met						p.T526M	NM_004455	NP_004446	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	9	2444	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	526			Lumenal (Potential).		Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.1577C>T	CCDS271.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285093	0.59867	2.27E-4	0.0	ENSG00000158008	ENST00000374280	T	0.76316	-1.01	4.88	4.88	0.63580	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.216043	0.39759	N	0.001266	T	0.72415	0.3457	L	0.57536	1.79	0.32793	N	0.500851	P	0.39060	0.657	B	0.36534	0.227	T	0.81792	-0.0770	10	0.62326	D	0.03	-8.3166	11.0983	0.48160	0.0:0.9111:0.0:0.0889	.	526	Q92935	EXTL1_HUMAN	M	526	ENSP00000363398:T526M	ENSP00000363398:T526M	T	+	2	0	EXTL1	26232832	0.957000	0.32711	0.931000	0.37212	0.666000	0.39218	3.820000	0.55693	2.527000	0.85204	0.561000	0.74099	ACG		0.582	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		36	94	0	0	0	0	36	94				
MACF1	23499	broad.mit.edu	37	1	39908232	39908232	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:39908232A>T	ENST00000372915.3	+	76	18881	c.18794A>T	c.(18793-18795)aAg>aTg	p.K6265M	MACF1_ENST00000289893.4_Missense_Mutation_p.K4809M|MACF1_ENST00000361689.2_Missense_Mutation_p.K4307M|MACF1_ENST00000564288.1_Missense_Mutation_p.K6366M|MACF1_ENST00000539005.1_Missense_Mutation_p.K4177M|MACF1_ENST00000317713.7_Missense_Mutation_p.K4307M|MACF1_ENST00000545844.1_Missense_Mutation_p.K4307M|MACF1_ENST00000567887.1_Missense_Mutation_p.K6403M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6265					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGCTCGCAAAGCACCATGTA	0.403																																						uc010oiu.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(14425-14427)AAG>ATG		microfilament and actin filament cross-linker							59.0	59.0	59.0					1																	39908232		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39908232A>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18794A>T	1.37:g.39908232A>T	ENSP00000362006:p.Lys6265Met					MACF1_uc010ois.1_Missense_Mutation_p.K4307M	p.K4809M	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		42	14557	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.14426A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.1|23.1	4.379982|4.379982	0.82682|0.82682	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.58797|.	0.31;0.31;0.31;0.31;0.31;0.31|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000004|0.000004	T|T	0.80428|0.80428	0.4621|0.4621	M|M	0.86740|0.86740	2.835|2.835	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.82955|0.82955	-0.0200|-0.0200	10|6	0.87932|.	D|.	0|.	.|.	16.5582|16.5582	0.84512|0.84512	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	6265;4307|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	M|N	4307;6265;4307;4307;4177;4809|3310	ENSP00000439537:K4307M;ENSP00000362006:K6265M;ENSP00000354573:K4307M;ENSP00000313438:K4307M;ENSP00000444364:K4177M;ENSP00000289893:K4809M|.	ENSP00000289893:K4809M|.	K|K	+|+	2|3	0|2	MACF1|MACF1	39680819|39680819	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.868000|0.868000	0.49771|0.49771	9.339000|9.339000	0.96797|0.96797	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	AAG|AAA		0.403	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		24	39	0	0	0	0	24	39				
CRNN	49860	broad.mit.edu	37	1	152383314	152383314	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:152383314C>A	ENST00000271835.3	-	3	306	c.244G>T	c.(244-246)Gcc>Tcc	p.A82S	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	82	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGGCCTGGGCAACTTTAAAC	0.567																																						uc001ezx.2		NA																	0				ovary(2)|skin(1)	3						c.(244-246)GCC>TCC		cornulin							75.0	83.0	80.0					1																	152383314		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152383314C>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.244G>T	1.37:g.152383314C>A	ENSP00000271835:p.Ala82Ser						p.A82S	NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	318	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		82			EF-hand.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.244G>T	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247918	0.59103	.	.	ENSG00000143536	ENST00000271835;ENST00000451038	T	0.14144	2.53	4.73	3.82	0.43975	EF-hand-like domain (1);	0.000000	0.47852	D	0.000209	T	0.17492	0.0420	M	0.67953	2.075	0.30467	N	0.773673	D	0.89917	1.0	D	0.83275	0.996	T	0.03017	-1.1082	10	0.31617	T	0.26	.	8.8094	0.34959	0.0:0.8977:0.0:0.1023	.	82	Q9UBG3	CRNN_HUMAN	S	82	ENSP00000271835:A82S	ENSP00000271835:A82S	A	-	1	0	CRNN	150649938	0.796000	0.28864	0.960000	0.40013	0.602000	0.36980	1.043000	0.30316	1.207000	0.43291	0.305000	0.20034	GCC		0.567	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		22	128	1	0	0.000175454	0.000205004	22	128				
CD48	962	broad.mit.edu	37	1	160650998	160650998	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:160650998T>C	ENST00000368046.3	-	3	733	c.646A>G	c.(646-648)Acc>Gcc	p.T216A	RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000598917.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	216					blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTACCCAGGGTACAGGGTGGA	0.522																																						uc001fwn.2		NA																	0					0						c.(646-648)ACC>GCC		CD48 molecule precursor							77.0	71.0	73.0					1																	160650998		2203	4300	6503	SO:0001583	missense	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160650998T>C	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.646A>G	1.37:g.160650998T>C	ENSP00000357025:p.Thr216Ala					CD48_uc001fwo.1_Missense_Mutation_p.T216A	p.T216A	NM_001778	NP_001769	P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	678	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		216					Q5U055|Q8MGR0	Missense_Mutation	SNP	ENST00000368046.3	37	c.646A>G	CCDS1208.1	.	.	.	.	.	.	.	.	.	.	T	0.851	-0.738543	0.03111	.	.	ENSG00000117091	ENST00000368046	T	0.37584	1.19	3.84	-1.61	0.08399	.	2.565810	0.01105	N	0.005469	T	0.11537	0.0281	L	0.50333	1.59	0.09310	N	0.999999	B;B	0.34372	0.451;0.451	B;B	0.36244	0.22;0.22	T	0.08534	-1.0717	10	0.06757	T	0.87	-10.8883	7.8594	0.29501	0.0:0.5081:0.0:0.4919	.	216;216	Q6IAZ2;P09326	.;CD48_HUMAN	A	216	ENSP00000357025:T216A	ENSP00000357025:T216A	T	-	1	0	CD48	158917622	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.176000	0.01262	-0.303000	0.08856	0.533000	0.62120	ACC		0.522	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		13	51	0	0	0	0	13	51				
PAPPA2	60676	broad.mit.edu	37	1	176738863	176738863	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:176738863G>A	ENST00000367662.3	+	16	5608	c.4444G>A	c.(4444-4446)Gga>Aga	p.G1482R		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1482	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				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)			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						CTGCTCAGAGGGAACCAAATT	0.522																																						uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4444-4446)GGA>AGA		pappalysin 2 isoform 1							133.0	130.0	131.0					1																	176738863		1968	4163	6131	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176738863G>A	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.4444G>A	1.37:g.176738863G>A	ENSP00000356634:p.Gly1482Arg					PAPPA2_uc009www.2_RNA	p.G1482R	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			16	5608	+			1482			Sushi 2.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4444G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	35	5.431166	0.96150	.	.	ENSG00000116183	ENST00000367662	T	0.47869	0.83	6.17	6.17	0.99709	Complement control module (2);Sushi/SCR/CCP (2);	0.000000	0.85682	D	0.000000	T	0.74703	0.3751	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76094	-0.3085	10	0.72032	D	0.01	-16.9837	20.4745	0.99168	0.0:0.0:1.0:0.0	.	1482	Q9BXP8	PAPP2_HUMAN	R	1482	ENSP00000356634:G1482R	ENSP00000356634:G1482R	G	+	1	0	PAPPA2	175005486	1.000000	0.71417	0.974000	0.42286	0.918000	0.54935	9.050000	0.93843	2.941000	0.99782	0.655000	0.94253	GGA		0.522	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			15	139	0	0	0	0	15	139				
PIGR	5284	broad.mit.edu	37	1	207109003	207109003	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:207109003C>T	ENST00000356495.4	-	5	1389	c.1206G>A	c.(1204-1206)gaG>gaA	p.E402E		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	402	Ig-like V-type 4.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TAACCCACCCCTCGCTGTCCA	0.627											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hez.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1204-1206)GAG>GAA		polymeric immunoglobulin receptor precursor							24.0	28.0	27.0					1																	207109003		2203	4300	6503	SO:0001819	synonymous_variant	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207109003C>T		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1206G>A	1.37:g.207109003C>T			OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2165	PIGR_uc009xbz.2_Silent_p.E402E	p.E402E	NM_002644	NP_002635	P01833	PIGR_HUMAN			5	1390	-			402			Ig-like V-type 4.|Extracellular (Potential).		Q68D81|Q8IZY7	Silent	SNP	ENST00000356495.4	37	c.1206G>A	CCDS1474.1																																																																																				0.627	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		9	37	0	0	0	0	9	37				
YOD1	55432	broad.mit.edu	37	1	207222672	207222672	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:207222672T>C	ENST00000315927.4	-	2	786	c.740A>G	c.(739-741)gAt>gGt	p.D247G	YOD1_ENST00000367084.1_Missense_Mutation_p.D203G|YOD1_ENST00000391927.1_Missense_Mutation_p.D203G|PFKFB2_ENST00000411990.2_5'Flank	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	247	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CCCAAAACGATCAATTCTTAC	0.403																																						uc001hfe.1		NA																	0				lung(1)	1						c.(739-741)GAT>GGT		YOD1 OTU deubiquinating enzyme 1 homolog							184.0	181.0	182.0					1																	207222672		2203	4300	6503	SO:0001583	missense	55432				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding	g.chr1:207222672T>C		CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"""OTU domain containing"""	25035	protein-coding gene	gene with protein product		612023	"""YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)"", ""YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"""				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.740A>G	1.37:g.207222672T>C	ENSP00000326813:p.Asp247Gly					PFKFB2_uc010psc.1_Intron|YOD1_uc001hff.1_Missense_Mutation_p.D203G	p.D247G	NM_018566	NP_061036	Q5VVQ6	OTU1_HUMAN			2	787	-	Prostate(682;0.19)		247			OTU.		B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Missense_Mutation	SNP	ENST00000315927.4	37	c.740A>G	CCDS31002.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.532713	0.64972	.	.	ENSG00000180667	ENST00000367084;ENST00000315927;ENST00000391927	T;T;T	0.39406	1.08;1.08;1.08	5.97	4.82	0.62117	Ovarian tumour, otubain (2);	0.142736	0.64402	D	0.000008	T	0.66197	0.2765	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;0.977	D;P	0.91635	0.999;0.698	T	0.67734	-0.5594	10	0.39692	T	0.17	-13.5612	12.4796	0.55833	0.0:0.0:0.1398:0.8602	.	203;247	Q5VVQ6-2;Q5VVQ6	.;OTU1_HUMAN	G	203;247;203	ENSP00000356051:D203G;ENSP00000326813:D247G;ENSP00000375793:D203G	ENSP00000326813:D247G	D	-	2	0	YOD1	205289295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.870000	0.87175	1.035000	0.39972	0.533000	0.62120	GAT		0.403	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1	NM_018566		47	119	0	0	0	0	47	119				
FH	2271	broad.mit.edu	37	1	241680611	241680611	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:241680611G>C	ENST00000366560.3	-	2	176	c.138C>G	c.(136-138)agC>agG	p.S46R	FH_ENST00000493477.1_5'UTR	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	46					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		AGGAATTTTGGCTTGCCTAAA	0.378			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	uc001hyx.2		NA	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	Mis|N|F	fumarate hydratase			"""E, M"""		lieomyomatosis|renal			0				lung(3)|ovary(1)|skin(1)	5						c.(136-138)AGC>AGG		fumarate hydratase precursor							74.0	69.0	71.0					1																	241680611		2203	4300	6503	SO:0001583	missense	2271	Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241680611G>C	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.138C>G	1.37:g.241680611G>C	ENSP00000355518:p.Ser46Arg						p.S46R	NM_000143	NP_000134	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	2	170	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	46					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.138C>G	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	G	8.502	0.864502	0.17250	.	.	ENSG00000091483	ENST00000366560	D	0.99656	-6.31	5.75	3.89	0.44902	.	0.237911	0.47852	D	0.000208	D	0.96830	0.8965	N	0.08118	0	0.50632	D	0.999886	B	0.29862	0.259	B	0.24269	0.052	D	0.95840	0.8865	10	0.30854	T	0.27	-0.1399	10.9376	0.47253	0.1533:0.0:0.8467:0.0	.	46	P07954	FUMH_HUMAN	R	46	ENSP00000355518:S46R	ENSP00000355518:S46R	S	-	3	2	FH	239747234	1.000000	0.71417	0.997000	0.53966	0.096000	0.18686	1.391000	0.34475	0.908000	0.36671	-0.157000	0.13467	AGC		0.378	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		11	36	0	0	0	0	11	36				
OR2T34	127068	broad.mit.edu	37	1	248737781	248737781	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:248737781C>T	ENST00000328782.2	-	1	299	c.278G>A	c.(277-279)gGa>gAa	p.G93E		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTATCATCTCCAGTGACCTG	0.562																																						uc001iep.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(277-279)GGA>GAA		olfactory receptor, family 2, subfamily T,							49.0	43.0	45.0					1																	248737781		2122	4265	6387	SO:0001583	missense	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737781C>T	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.278G>A	1.37:g.248737781C>T	ENSP00000330904:p.Gly93Glu						p.G93E	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	278	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		93			Extracellular (Potential).		B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	c.278G>A	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	10.59	1.394014	0.25205	.	.	ENSG00000183310	ENST00000328782	T	0.01516	4.81	2.35	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01730	0.0055	L	0.33137	0.985	0.09310	N	1	P	0.39964	0.697	B	0.38500	0.275	T	0.49194	-0.8965	9	0.62326	D	0.03	.	4.7608	0.13108	0.0:0.5607:0.0:0.4393	.	93	Q8NGX1	O2T34_HUMAN	E	93	ENSP00000330904:G93E	ENSP00000330904:G93E	G	-	2	0	OR2T34	246804404	0.000000	0.05858	0.003000	0.11579	0.193000	0.23685	0.220000	0.17660	1.159000	0.42565	0.395000	0.25975	GGA		0.562	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		17	57	0	0	0	0	17	57				
PRLHR	2834	broad.mit.edu	37	10	120353933	120353933	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr10:120353933C>A	ENST00000369169.1	-	1	823	c.824G>T	c.(823-825)cGc>cTc	p.R275L	PRLHR_ENST00000239032.2_Missense_Mutation_p.R275L			P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	275					feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone metabolic process (GO:0042445)|neuropeptide signaling pathway (GO:0007218)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)|neuropeptide Y receptor activity (GO:0004983)			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GCAGAAGGTGCGCCGGCGCCG	0.687																																						uc001ldp.1		NA																	0					0						c.(823-825)CGC>CTC		G protein-coupled receptor 10							25.0	27.0	26.0					10																	120353933		2194	4291	6485	SO:0001583	missense	2834				female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity	g.chr10:120353933C>A	AB048946	CCDS7606.1	10q25.3-q26	2014-02-21	2005-11-24	2005-11-24	ENSG00000119973	ENSG00000119973		"""GPCR / Class A : RF amide peptide receptors"""	4464	protein-coding gene	gene with protein product		600895	"""G protein-coupled receptor 10"""	GPR10		8666380, 15885496	Standard	NM_004248		Approved	PrRPR	uc001ldp.1	P49683	OTTHUMG00000019136	ENST00000369169.1:c.824G>T	10.37:g.120353933C>A	ENSP00000358167:p.Arg275Leu						p.R275L	NM_004248	NP_004239	P49683	PRLHR_HUMAN		all cancers(201;0.0166)	2	963	-		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)	275			Cytoplasmic (Potential).		O75194|Q502U8|Q5VXR9	Missense_Mutation	SNP	ENST00000369169.1	37	c.824G>T	CCDS7606.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165141	0.78339	.	.	ENSG00000119973	ENST00000239032;ENST00000369169	T;T	0.44881	0.91;0.91	4.56	4.56	0.56223	GPCR, rhodopsin-like superfamily (1);	0.061223	0.64402	D	0.000008	T	0.64516	0.2605	M	0.88906	2.99	0.44500	D	0.99744	D	0.69078	0.997	D	0.67382	0.951	T	0.69840	-0.5036	10	0.87932	D	0	.	8.114	0.30930	0.0:0.8151:0.0:0.1849	.	275	P49683	PRLHR_HUMAN	L	275	ENSP00000239032:R275L;ENSP00000358167:R275L	ENSP00000239032:R275L	R	-	2	0	PRLHR	120343923	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.014000	0.49590	2.364000	0.80123	0.561000	0.74099	CGC		0.687	PRLHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050610.1	NM_004248		7	25	1	0	2.01e-06	2.48e-06	7	25				
HRAS	3265	broad.mit.edu	37	11	534289	534289	+	Missense_Mutation	SNP	C	C	A	rs104894229		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr11:534289C>A	ENST00000451590.1	-	2	221	c.34G>T	c.(34-36)Ggc>Tgc	p.G12C	HRAS_ENST00000311189.7_Missense_Mutation_p.G12C|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12C|HRAS_ENST00000417302.1_Missense_Mutation_p.G12C|HRAS_ENST00000397596.2_Missense_Mutation_p.G12C	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in CSTLO). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854}.|G -> C (in CSTLO). {ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:18039947}.|G -> D (in CSTLO; severe mutation). {ECO:0000269|PubMed:18039947}.|G -> E (in CSTLO). {ECO:0000269|PubMed:16443854}.|G -> S (in CSTLO, OSCC and CMEMS). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:17054105, ECO:0000269|PubMed:17412879}.|G -> V (in CSTLO, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:17412879}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-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;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCACACCGCCGGCGCCCACC	0.647		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.2		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		rhadomyosarcoma|ganglioneuroblastoma|bladder	infrequent sarcomas|rare other types		95	Substitution - Missense(95)	p.G12V(250)|p.G12S(54)|p.G12D(39)|p.G12C(23)|p.G12R(12)|p.G12A(7)|p.G12_G13insAG(1)	upper_aerodigestive_tract(33)|urinary_tract(15)|skin(11)|thyroid(10)|cervix(7)|soft_tissue(5)|salivary_gland(5)|pituitary(3)|large_intestine(2)|lung(1)|penis(1)|prostate(1)|bone(1)	urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749	GRCh37	CM053283|CM061797	HRAS	M	rs104894229	c.(34-36)GGC>TGC		v-Ha-ras Harvey rat sarcoma viral oncogene	Sulindac(DB00605)						78.0	74.0	76.0					11																	534289		2202	4300	6502	SO:0001583	missense	3265	Costello_syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534289C>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.34G>T	11.37:g.534289C>A	ENSP00000407586:p.Gly12Cys	HNSCC(11;0.0054)				HRAS_uc010qvw.1_Missense_Mutation_p.G12C|HRAS_uc010qvx.1_Missense_Mutation_p.G12C|HRAS_uc010qvy.1_RNA	p.G12C	NM_005343	NP_005334	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	222	-		all_cancers(49;4.37e-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)	12		G -> S (in FCSS, OSCC and CMEMS).|G -> E (in FCSS).|G -> C (in FCSS).|G -> A (in FCSS).	GTP.		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.34G>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306388	0.60305	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.82806	0.5117	M	0.86651	2.83	0.80722	A	1	P;P	0.39665	0.682;0.525	B;P	0.44394	0.32;0.448	D	0.90369	0.4379	9	0.72032	D	0.01	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	12;12	P01112-2;P01112	.;RASH_HUMAN	C	12	ENSP00000380722:G12C;ENSP00000380723:G12C;ENSP00000407586:G12C;ENSP00000388246:G12C;ENSP00000309845:G12C	ENSP00000309845:G12C	G	-	1	0	HRAS	524289	1.000000	0.71417	0.332000	0.25469	0.311000	0.27955	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGC		0.647	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		7	44	1	0	2.01e-06	2.48e-06	7	44				
KRTAP5-5	439915	broad.mit.edu	37	11	1651181	1651181	+	Silent	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr11:1651181C>A	ENST00000399676.2	+	1	149	c.111C>A	c.(109-111)ggC>ggA	p.G37G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	37						keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gctgtgggggctgtggctccg	0.721																																						uc001lty.2		NA																	0				lung(1)	1						c.(109-111)GGC>GGA		keratin associated protein 5-5							18.0	28.0	25.0					11																	1651181		1862	3825	5687	SO:0001819	synonymous_variant	439915					keratin filament		g.chr11:1651181C>A	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.111C>A	11.37:g.1651181C>A							p.G37G	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	149	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	37					A8MWN2	Silent	SNP	ENST00000399676.2	37	c.111C>A	CCDS41592.1																																																																																				0.721	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			21	87	1	0	1.64e-13	2.16e-13	21	87				
MRVI1	10335	broad.mit.edu	37	11	10650331	10650331	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr11:10650331G>A	ENST00000436272.1	-	5	670	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	MRVI1_ENST00000532037.1_5'Flank|MRVI1_ENST00000552103.1_Missense_Mutation_p.R116W|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.R207W|MRVI1_ENST00000547195.1_Missense_Mutation_p.R116W|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000527509.2_Missense_Mutation_p.R116W|MRVI1_ENST00000421747.1_Missense_Mutation_p.R198W|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.R198W|MRVI1_ENST00000541483.1_Missense_Mutation_p.R207W			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	198					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GAGTTGCTCCGAGAGGATGTA	0.597																																						uc010rcc.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(619-621)CGG>TGG		JAW1-related protein isoform c							52.0	66.0	61.0					11																	10650331		2032	4188	6220	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10650331G>A	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.592C>T	11.37:g.10650331G>A	ENSP00000412229:p.Arg198Trp					MRVI1_uc001miw.2_Missense_Mutation_p.R198W|MRVI1_uc010rcb.1_Missense_Mutation_p.R198W|MRVI1_uc009ygb.1_5'UTR|MRVI1_uc001mix.2_5'UTR|MRVI1_uc001miz.2_Missense_Mutation_p.R116W|MRVI1_uc009ygc.1_Missense_Mutation_p.R116W|MRVI1_uc010rcd.1_Missense_Mutation_p.R207W|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_RNA	p.R207W	NM_001100167	NP_001093637	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	6	1005	-			198					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.619C>T		.	.	.	.	.	.	.	.	.	.	G	10.47	1.358403	0.24598	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T	0.16597	2.91;2.91;2.34;2.34;2.73;2.33;2.91;2.34	5.7	4.76	0.60689	.	0.481828	0.20568	N	0.089787	T	0.16085	0.0387	L	0.50333	1.59	0.80722	D	1	B;B;B;B	0.22983	0.032;0.019;0.047;0.078	B;B;B;B	0.15870	0.008;0.006;0.006;0.014	T	0.03212	-1.1060	10	0.54805	T	0.06	-5.7454	8.5454	0.33417	0.0804:0.0:0.7403:0.1794	.	207;198;198;198	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	W	198;199;198;116;116;207;207;198;116	ENSP00000414598:R198W;ENSP00000412229:R198W;ENSP00000448278:R116W;ENSP00000446764:R116W;ENSP00000412130:R207W;ENSP00000437784:R207W;ENSP00000432436:R198W;ENSP00000432067:R116W	ENSP00000307885:R199W	R	-	1	2	MRVI1	10606907	0.314000	0.24563	0.410000	0.26471	0.025000	0.11179	1.729000	0.38115	1.308000	0.44962	0.655000	0.94253	CGG		0.597	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		4	2	0	0	0	0	4	2				
CAT	847	broad.mit.edu	37	11	34485744	34485744	+	Missense_Mutation	SNP	C	C	T	rs139875365	byFrequency	TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr11:34485744C>T	ENST00000241052.4	+	10	1377	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	430					aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TGGAGAAGTGCGGAGATTCAA	0.463													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19618	0.0		0.001	False		,,,				2504	0.0					uc001mvm.2		NA																	0				ovary(2)|pancreas(1)	3						c.(1288-1290)CGG>TGG		catalase	Fomepizole(DB01213)						176.0	150.0	159.0					11																	34485744		2202	4298	6500	SO:0001583	missense	847				hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	g.chr11:34485744C>T	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1288C>T	11.37:g.34485744C>T	ENSP00000241052:p.Arg430Trp					CAT_uc009ykc.1_RNA|CAT_uc001mvn.2_Missense_Mutation_p.R39W	p.R430W	NM_001752	NP_001743	P04040	CATA_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000995)	10	1371	+		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)	430					A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	ENST00000241052.4	37	c.1288C>T	CCDS7891.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	11.98	1.799309	0.31869	.	.	ENSG00000121691	ENST00000241052	D	0.91521	-2.86	5.67	1.31	0.21738	Catalase domain (1);	0.824647	0.11323	N	0.575844	D	0.87661	0.6233	L	0.58810	1.83	0.25658	N	0.986033	D	0.57899	0.981	B	0.40741	0.339	T	0.77877	-0.2424	10	0.66056	D	0.02	-1.756	11.5269	0.50584	0.151:0.4023:0.4467:0.0	.	430	P04040	CATA_HUMAN	W	430	ENSP00000241052:R430W	ENSP00000241052:R430W	R	+	1	2	CAT	34442320	0.983000	0.35010	0.697000	0.30258	0.012000	0.07955	0.979000	0.29500	0.256000	0.21614	0.561000	0.74099	CGG		0.463	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2	NM_001752		25	77	0	0	0	0	25	77				
ALG10	84920	broad.mit.edu	37	12	34179455	34179455	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr12:34179455G>C	ENST00000266483.2	+	3	1346	c.1027G>C	c.(1027-1029)Gct>Cct	p.A343P	AC046130.1_ENST00000401300.2_RNA|ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	343					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				ATTCACTTATGCTCATAAATA	0.303																																						uc001rlm.2		NA																	0				skin(1)	1						c.(1027-1029)GCT>CCT		asparagine-linked glycosylation 10 homolog							78.0	88.0	84.0					12																	34179455		2201	4294	6495	SO:0001583	missense	84920				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:34179455G>C	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.1027G>C	12.37:g.34179455G>C	ENSP00000266483:p.Ala343Pro						p.A343P	NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN			3	1346	+	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)	343			Helical; (Potential).		Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	ENST00000266483.2	37	c.1027G>C	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.091506	0.36952	.	.	ENSG00000139133	ENST00000266483	T	0.55588	0.51	3.37	2.46	0.29980	.	0.541442	0.20153	N	0.098105	T	0.45276	0.1334	L	0.52011	1.625	0.80722	D	1	P	0.37612	0.602	B	0.38842	0.283	T	0.34700	-0.9818	10	0.49607	T	0.09	.	8.4466	0.32845	0.1241:0.0:0.8759:0.0	.	343	Q5BKT4	AG10A_HUMAN	P	343	ENSP00000266483:A343P	ENSP00000266483:A343P	A	+	1	0	ALG10	34070722	0.994000	0.37717	0.516000	0.27786	0.870000	0.49936	3.801000	0.55545	0.537000	0.28751	0.184000	0.17185	GCT		0.303	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834		22	87	0	0	0	0	22	87				
KMT2D	8085	broad.mit.edu	37	12	49415846	49415846	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr12:49415846G>A	ENST00000301067.7	-	53	16500	c.16501C>T	c.(16501-16503)Cga>Tga	p.R5501*	RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000548065.1_5'Flank|RP11-386G11.5_ENST00000547866.1_RNA	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5501	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R5231*(4)|p.R5501*(2)									TTGGGGATTCGCCGGCTGGAG	0.512																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		6	Substitution - Nonsense(6)	p.R5231*(1)	central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|breast(1)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(16501-16503)CGA>TGA		myeloid/lymphoid or mixed-lineage leukemia 2							155.0	150.0	152.0					12																	49415846		2028	4184	6212	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49415846G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16501C>T	12.37:g.49415846G>A	ENSP00000301067:p.Arg5501*	HNSCC(34;0.089)					p.R5501*	NM_003482	NP_003473	O14686	MLL2_HUMAN			53	16501	-			5501			SET.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.16501C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	g	56	26.632243	0.99969	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	.	.	.	4.64	4.64	0.57946	.	0.000000	0.30762	N	0.008932	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.5455	0.56197	0.0:0.0:0.8328:0.1672	.	.	.	.	X	5501;182	.	ENSP00000301067:R5501X	R	-	1	2	MLL2	47702113	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.691000	0.37721	2.599000	0.87857	0.550000	0.68814	CGA		0.512	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			45	127	0	0	0	0	45	127				
UBC	7316	broad.mit.edu	37	12	125398267	125398267	+	Silent	SNP	A	A	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr12:125398267A>C	ENST00000538617.1	-	3	367	c.51T>G	c.(49-51)gtT>gtG	p.V17V	MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Silent_p.V17V|UBC_ENST00000339647.5_Silent_p.V17V|UBC_ENST00000536769.1_Silent_p.V17V|UBC_ENST00000536661.1_5'UTR			P0CG48	UBC_HUMAN	ubiquitin C	397	Ubiquitin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CACTGGGCTCAACCTCGAGGG	0.473																																						uc001ugs.3		NA																	0				ovary(2)	2						c.(49-51)GTT>GTG		ubiquitin C							185.0	175.0	179.0					12																	125398267		2203	4300	6503	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125398267A>C		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.51T>G	12.37:g.125398267A>C						UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Silent_p.V17V|UBC_uc001ugt.2_Silent_p.V17V|UBC_uc001ugv.2_Silent_p.V17V|UBC_uc001ugw.2_5'UTR|UBC_uc009zyf.1_RNA	p.V17V	NM_021009	NP_066289	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	2	499	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		17			Ubiquitin-like 1.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37	c.51T>G																																																																																					0.473	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009		4	216	0	0	0	0	4	216				
KLHL1	57626	broad.mit.edu	37	13	70549904	70549904	+	Silent	SNP	A	A	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr13:70549904A>C	ENST00000377844.4	-	2	1287	c.528T>G	c.(526-528)ccT>ccG	p.P176P	KLHL1_ENST00000545028.1_Intron	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	176					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AATCACTTTGAGGTGTCATTG	0.398																																						uc001vip.2		NA																	0					0						c.(526-528)CCT>CCG		kelch-like 1 protein							120.0	107.0	111.0					13																	70549904		2203	4300	6503	SO:0001819	synonymous_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70549904A>C	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.528T>G	13.37:g.70549904A>C						KLHL1_uc010thm.1_Intron	p.P176P	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	2	1322	-		Breast(118;0.000162)	176					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	c.528T>G	CCDS9445.1																																																																																				0.398	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		14	42	0	0	0	0	14	42				
RNF113B	140432	broad.mit.edu	37	13	98828825	98828825	+	Silent	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr13:98828825G>A	ENST00000267291.6	-	1	694	c.666C>T	c.(664-666)ctC>ctT	p.L222L	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000595437.1_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	222							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TCTCCCACCCGAGCTTGTAAT	0.532																																						uc001vnk.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(664-666)CTC>CTT		ring finger protein 113B							89.0	83.0	85.0					13																	98828825		2203	4300	6503	SO:0001819	synonymous_variant	140432						nucleic acid binding|zinc ion binding	g.chr13:98828825G>A	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.666C>T	13.37:g.98828825G>A						FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron	p.L222L	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	697	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		222					Q8WWF9|Q96QY9	Silent	SNP	ENST00000267291.6	37	c.666C>T	CCDS9486.1																																																																																				0.532	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		32	93	0	0	0	0	32	93				
CHD8	57680	broad.mit.edu	37	14	21863099	21863099	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr14:21863099C>A	ENST00000557364.1	-	30	5625	c.5362G>T	c.(5362-5364)Gaa>Taa	p.E1788*	CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Nonsense_Mutation_p.E1509*|CHD8_ENST00000399982.2_Nonsense_Mutation_p.E1788*|SNORD8_ENST00000363915.1_RNA|SNORD9_ENST00000362566.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1788					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CGTGCAATTTCTTTCAGCTTG	0.493																																						uc001was.1		NA																	0				ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(4525-4527)GAA>TAA		chromodomain helicase DNA binding protein 8							52.0	52.0	52.0					14																	21863099		1907	4126	6033	SO:0001587	stop_gained	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21863099C>A	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.5362G>T	14.37:g.21863099C>A	ENSP00000451601:p.Glu1788*					CHD8_uc001war.1_Nonsense_Mutation_p.E1405*|SNORD9_uc001wat.1_5'Flank	p.E1509*	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	30	4619	-	all_cancers(95;0.00121)		1788					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Nonsense_Mutation	SNP	ENST00000557364.1	37	c.4525G>T	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	47	13.687915	0.99757	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.	.	.	6.07	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-23.74	13.7498	0.62901	0.0:0.9256:0.0:0.0744	.	.	.	.	X	1509;1788;1508;1788	.	ENSP00000262707:E1508X	E	-	1	0	CHD8	20932939	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.081000	0.57627	2.885000	0.99019	0.655000	0.94253	GAA		0.493	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		24	62	1	0	5.62e-17	7.51e-17	24	62				
PSMC6	5706	broad.mit.edu	37	14	53175510	53175510	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr14:53175510A>T	ENST00000606149.1	+	4	250	c.234A>T	c.(232-234)agA>agT	p.R78S	PSMC6_ENST00000445930.2_Missense_Mutation_p.R92S	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	78					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					ATGGACCAAGATATGTTGTGG	0.328																																						uc010tqx.1		NA																	0				lung(1)	1						c.(274-276)AGA>AGT		proteasome 26S ATPase subunit 6							148.0	142.0	144.0					14																	53175510		2203	4300	6503	SO:0001583	missense	5706				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	g.chr14:53175510A>T		CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.234A>T	14.37:g.53175510A>T	ENSP00000475721:p.Arg78Ser					PSMC6_uc010tqv.1_Missense_Mutation_p.R92S|PSMC6_uc010tqw.1_Missense_Mutation_p.R58S	p.R92S	NM_002806	NP_002797	P62333	PRS10_HUMAN			4	276	+	Breast(41;0.176)		78					B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	ENST00000606149.1	37	c.276A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.9|22.9	4.351334|4.351334	0.82132|0.82132	.|.	.|.	ENSG00000100519|ENSG00000100519	ENST00000555339;ENST00000556813|ENST00000445930	.|D	.|0.93763	.|-3.28	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95733|0.95733	0.8612|0.8612	M|M	0.83312|0.83312	2.635|2.635	0.80722|0.80722	D|D	1|1	.|P;P	.|0.48230	.|0.907;0.892	.|P;P	.|0.53266	.|0.704;0.722	D|D	0.96305|0.96305	0.9224|0.9224	5|10	.|0.87932	.|D	.|0	.|.	15.8164|15.8164	0.78604|0.78604	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|78;58	.|P62333;B4DR91	.|PRS10_HUMAN;.	L|S	39;78|92	.|ENSP00000401802:R92S	.|ENSP00000401802:R92S	I|R	+|+	1|3	0|2	PSMC6|PSMC6	52245260|52245260	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	6.769000|6.769000	0.74985|0.74985	2.195000|2.195000	0.70347|0.70347	0.533000|0.533000	0.62120|0.62120	ATA|AGA		0.328	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806		15	42	0	0	0	0	15	42				
MAPKBP1	23005	broad.mit.edu	37	15	42109605	42109605	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr15:42109605C>T	ENST00000456763.2	+	16	1945	c.1749C>T	c.(1747-1749)cgC>cgT	p.R583R	MAPKBP1_ENST00000221214.6_Silent_p.R460R|MAPKBP1_ENST00000260357.7_Silent_p.R416R|MAPKBP1_ENST00000457542.2_Silent_p.R577R|MAPKBP1_ENST00000514566.1_Silent_p.R577R	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	583										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GGCAAGTCCGCATGATCAGCT	0.612																																						uc001zok.3		NA																	0				central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(1747-1749)CGC>CGT		mitogen-activated protein kinase binding protein							93.0	76.0	81.0					15																	42109605		2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42109605C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1749C>T	15.37:g.42109605C>T						MAPKBP1_uc001zoj.3_Silent_p.R577R|MAPKBP1_uc010bcj.2_Silent_p.R84R|MAPKBP1_uc010bci.2_Silent_p.R577R|MAPKBP1_uc010udb.1_Silent_p.R416R|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_Silent_p.R84R	p.R583R	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	16	2035	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	583			WD 9.		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.1749C>T	CCDS45239.1																																																																																				0.612	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		18	52	0	0	0	0	18	52				
TP53BP1	7158	broad.mit.edu	37	15	43771645	43771645	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr15:43771645C>T	ENST00000263801.3	-	7	975	c.723G>A	c.(721-723)caG>caA	p.Q241Q	TP53BP1_ENST00000450115.2_Silent_p.Q246Q|TP53BP1_ENST00000382039.3_Silent_p.Q246Q|TP53BP1_ENST00000382044.4_Silent_p.Q246Q	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	241					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CCTTACTGGGCTGTGCTGTCA	0.418								Other conserved DNA damage response genes																														uc001zrs.2		NA																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(721-723)CAG>CAA	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							269.0	215.0	233.0					15																	43771645		2201	4298	6499	SO:0001819	synonymous_variant	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43771645C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.723G>A	15.37:g.43771645C>T						TP53BP1_uc010udp.1_Silent_p.Q241Q|TP53BP1_uc001zrq.3_Silent_p.Q246Q|TP53BP1_uc001zrr.3_Silent_p.Q246Q|TP53BP1_uc010udq.1_Silent_p.Q246Q	p.Q241Q	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	7	871	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	241					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Silent	SNP	ENST00000263801.3	37	c.723G>A	CCDS10096.1																																																																																				0.418	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			29	61	0	0	0	0	29	61				
GTF3C1	2975	broad.mit.edu	37	16	27504019	27504019	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr16:27504019C>T	ENST00000356183.4	-	18	2907	c.2892G>A	c.(2890-2892)tcG>tcA	p.S964S	GTF3C1_ENST00000561623.1_Silent_p.S964S	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	964					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCTCCACCACCGAAAAAATGT	0.557																																						uc002dov.1		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(2890-2892)TCG>TCA		general transcription factor IIIC, polypeptide							101.0	105.0	104.0					16																	27504019		2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27504019C>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.2892G>A	16.37:g.27504019C>T						GTF3C1_uc002dou.2_Silent_p.S964S	p.S964S	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			18	2932	-			964					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.2892G>A	CCDS32414.1																																																																																				0.557	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		32	74	0	0	0	0	32	74				
FHOD1	29109	broad.mit.edu	37	16	67264614	67264614	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr16:67264614C>T	ENST00000258201.4	-	18	2995	c.2748G>A	c.(2746-2748)ttG>ttA	p.L916L		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	916	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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)		CATGCTTGGCCAAGCTCCGCA	0.662																																						uc002esl.2		NA																	0				breast(2)|ovary(1)	3						c.(2746-2748)TTG>TTA		formin homology 2 domain containing 1							80.0	84.0	82.0					16																	67264614		2198	4299	6497	SO:0001819	synonymous_variant	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67264614C>T	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.2748G>A	16.37:g.67264614C>T						FHOD1_uc002esk.2_5'UTR|FHOD1_uc010ced.2_Silent_p.L723L	p.L916L	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	18	2860	-		Ovarian(137;0.0563)	916			Potential.|FH2.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	ENST00000258201.4	37	c.2748G>A	CCDS10834.1																																																																																				0.662	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			41	150	0	0	0	0	41	150				
MYH4	4622	broad.mit.edu	37	17	10369888	10369888	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:10369888T>C	ENST00000255381.2	-	3	285	c.175A>G	c.(175-177)Aag>Gag	p.K59E	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	59					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTGTCACCTTCCCCCCTTCC	0.463																																						uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(175-177)AAG>GAG		myosin, heavy polypeptide 4, skeletal muscle							209.0	193.0	199.0					17																	10369888		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10369888T>C		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.175A>G	17.37:g.10369888T>C	ENSP00000255381:p.Lys59Glu					uc002gml.1_Intron	p.K59E	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			3	286	-			59			Myosin head-like.			Missense_Mutation	SNP	ENST00000255381.2	37	c.175A>G	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	T	18.64	3.667000	0.67814	.	.	ENSG00000141048	ENST00000255381	T	0.80566	-1.39	4.53	4.53	0.55603	Myosin, N-terminal, SH3-like (1);	0.000000	0.38959	U	0.001510	T	0.80166	0.4573	M	0.75777	2.31	0.80722	D	1	B	0.09022	0.002	B	0.19391	0.025	T	0.77536	-0.2551	10	0.38643	T	0.18	.	14.3014	0.66355	0.0:0.0:0.0:1.0	.	59	Q9Y623	MYH4_HUMAN	E	59	ENSP00000255381:K59E	ENSP00000255381:K59E	K	-	1	0	MYH4	10310613	1.000000	0.71417	0.997000	0.53966	0.909000	0.53808	7.761000	0.85260	2.020000	0.59435	0.528000	0.53228	AAG		0.463	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		3	235	0	0	0	0	3	235				
KRTAP4-8	728224	broad.mit.edu	37	17	39253956	39253956	+	Silent	SNP	G	G	A	rs139720993	byFrequency	TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:39253956G>A	ENST00000333822.4	-	1	437	c.381C>T	c.(379-381)ccC>ccT	p.P127P		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	127	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.P127P(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						tgctgcagctggggcggcagc	0.677													G|||	1899	0.379193	0.4198	0.3934	5008	,	,		14956	0.2292		0.4553	False		,,,				2504	0.3906					uc010wfo.1		NA																	1	Substitution - coding silent(1)		kidney(1)		0						c.(379-381)CCC>CCT		keratin associated protein 4.8							3.0	5.0	4.0					17																	39253956		591	1415	2006	SO:0001819	synonymous_variant	728224					keratin filament		g.chr17:39253956G>A	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.381C>T	17.37:g.39253956G>A							p.P127P	NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN			1	420	-			127			21.|25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Silent	SNP	ENST00000333822.4	37	c.381C>T	CCDS45674.1																																																																																				0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		5	11	0	0	0	0	5	11				
ADAM11	4185	broad.mit.edu	37	17	42855361	42855361	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:42855361G>A	ENST00000200557.6	+	24	2281	c.2112G>A	c.(2110-2112)tgG>tgA	p.W704*	ADAM11_ENST00000535346.1_Nonsense_Mutation_p.W504*	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	704	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				AGCCAGACTGGACAGGCAAAG	0.612																																						uc002ihh.2		NA																	0				pancreas(1)	1						c.(2110-2112)TGG>TGA		ADAM metallopeptidase domain 11 preproprotein							108.0	107.0	108.0					17																	42855361		2203	4300	6503	SO:0001587	stop_gained	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42855361G>A	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.2112G>A	17.37:g.42855361G>A	ENSP00000200557:p.Trp704*					ADAM11_uc010wjd.1_Nonsense_Mutation_p.W504*|ADAM11_uc002ihi.2_Missense_Mutation_p.G57E	p.W704*	NM_002390	NP_002381	O75078	ADA11_HUMAN			24	2112	+		Prostate(33;0.0959)	704			EGF-like.|Extracellular (Potential).		Q14808|Q14809|Q14810	Nonsense_Mutation	SNP	ENST00000200557.6	37	c.2112G>A	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	G	42	9.703020	0.99242	.	.	ENSG00000073670	ENST00000200557;ENST00000535346	.	.	.	4.3	4.3	0.51218	.	0.306378	0.33875	N	0.004472	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6705	0.77270	0.0:0.0:1.0:0.0	.	.	.	.	X	704;504	.	ENSP00000200557:W704X	W	+	3	0	ADAM11	40210887	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.429000	0.66495	2.220000	0.72140	0.561000	0.74099	TGG		0.612	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		37	127	0	0	0	0	37	127				
CA4	762	broad.mit.edu	37	17	58234830	58234830	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:58234830G>A	ENST00000300900.4	+	4	410	c.311G>A	c.(310-312)gGa>gAa	p.G104E		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	104					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TCTGGAGGAGGACTGCCTGCC	0.587																																						uc002iym.3		NA																	0					0						c.(310-312)GGA>GAA		carbonic anhydrase IV precursor	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						131.0	102.0	112.0					17																	58234830		2203	4300	6503	SO:0001583	missense	762				bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding	g.chr17:58234830G>A	L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"""Carbonic anhydrases"""	1375	protein-coding gene	gene with protein product		114760	"""retinitis pigmentosa 17 (autosomal dominant)"""	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.311G>A	17.37:g.58234830G>A	ENSP00000300900:p.Gly104Glu					CA4_uc010wou.1_Intron	p.G104E	NM_000717	NP_000708	P22748	CAH4_HUMAN	Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		4	405	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		104					B4DQA4|Q6FHI7	Missense_Mutation	SNP	ENST00000300900.4	37	c.311G>A	CCDS11624.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343537	0.61073	.	.	ENSG00000167434	ENST00000300900	T	0.72615	-0.67	4.61	2.55	0.30701	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.241892	0.42548	D	0.000690	T	0.82051	0.4953	M	0.88704	2.975	0.37204	D	0.904505	D	0.89917	1.0	D	0.76575	0.988	T	0.81614	-0.0853	10	0.34782	T	0.22	.	5.9803	0.19403	0.2422:0.0:0.7577:0.0	.	104	P22748	CAH4_HUMAN	E	104	ENSP00000300900:G104E	ENSP00000300900:G104E	G	+	2	0	CA4	55589612	0.983000	0.35010	0.874000	0.34290	0.131000	0.20780	1.963000	0.40452	1.018000	0.39521	0.462000	0.41574	GGA		0.587	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449189.1	NM_000717		23	92	0	0	0	0	23	92				
TNRC6C	57690	broad.mit.edu	37	17	76082938	76082938	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:76082938C>T	ENST00000588061.1	+	15	4293	c.3566C>T	c.(3565-3567)gCg>gTg	p.A1189V	TNRC6C_ENST00000588847.1_Missense_Mutation_p.A1186V|TNRC6C_ENST00000301624.4_Missense_Mutation_p.A1189V|TNRC6C_ENST00000335749.4_Missense_Mutation_p.A1186V|TNRC6C_ENST00000541771.1_Missense_Mutation_p.A1189V|TNRC6C_ENST00000544502.1_Missense_Mutation_p.A1186V			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1189					embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A1189V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGCCAGGTTGCGCGCACAATC	0.592																																						uc002jud.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|central_nervous_system(1)	2						c.(3565-3567)GCG>GTG		trinucleotide repeat containing 6C isoform 2							103.0	111.0	109.0					17																	76082938		2135	4247	6382	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76082938C>T	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.3566C>T	17.37:g.76082938C>T	ENSP00000468647:p.Ala1189Val					TNRC6C_uc002juf.2_Missense_Mutation_p.A1186V	p.A1189V	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		14	4166	+			1189			Potential.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.3566C>T	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	C	33	5.286463	0.95517	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.18016	2.24;2.25;2.25;2.24	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.43831	0.1265	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.945	T	0.14144	-1.0483	10	0.44086	T	0.13	-10.8602	19.5379	0.95262	0.0:1.0:0.0:0.0	.	1186;1189	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	V	1189;1186;1186;1189;1189;1186	ENSP00000336783:A1186V;ENSP00000301624:A1189V;ENSP00000440310:A1189V;ENSP00000442421:A1186V	ENSP00000301624:A1189V	A	+	2	0	TNRC6C	73594533	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.413000	0.80104	2.618000	0.88619	0.591000	0.81541	GCG		0.592	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		5	166	0	0	0	0	5	166				
FBN3	84467	broad.mit.edu	37	19	8174522	8174522	+	Silent	SNP	G	G	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:8174522G>T	ENST00000600128.1	-	35	4863	c.4449C>A	c.(4447-4449)ggC>ggA	p.G1483G	FBN3_ENST00000601739.1_Silent_p.G1483G|FBN3_ENST00000270509.2_Silent_p.G1483G			Q75N90	FBN3_HUMAN	fibrillin 3	1483	EGF-like 23; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACCCACGCAGCCCACTCCGC	0.582																																						uc002mjf.2		NA																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(4447-4449)GGC>GGA		fibrillin 3 precursor							64.0	65.0	65.0					19																	8174522		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8174522G>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.4449C>A	19.37:g.8174522G>T							p.G1483G	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			34	4470	-			1483			EGF-like 23; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.4449C>A	CCDS12196.1																																																																																				0.582	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		24	79	1	0	5.35e-11	6.99e-11	24	79				
MAST1	22983	broad.mit.edu	37	19	12958457	12958457	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:12958457G>C	ENST00000251472.4	+	6	559	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	MAST1_ENST00000591495.1_Missense_Mutation_p.E170Q	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTACGACAACGAGATCGTGAT	0.652											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mvm.2		NA																	0				ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						c.(520-522)GAG>CAG		microtubule associated serine/threonine kinase							46.0	48.0	47.0					19																	12958457		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12958457G>C	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.520G>C	19.37:g.12958457G>C	ENSP00000251472:p.Glu174Gln		OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	683	MAST1_uc002mvk.2_Missense_Mutation_p.E170Q|MAST1_uc002mvl.2_Silent_p.T147T	p.E174Q	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			6	648	+			174						Missense_Mutation	SNP	ENST00000251472.4	37	c.520G>C	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845294	0.91197	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.44482	0.92	4.56	3.52	0.40303	Microtubule-associated serine/threonine-protein kinase, domain (1);	0.292514	0.30329	N	0.009863	T	0.68100	0.2964	M	0.91038	3.17	0.48762	D	0.999704	P;D	0.76494	0.841;0.999	P;D	0.74023	0.904;0.982	T	0.74028	-0.3796	10	0.87932	D	0	-9.1639	10.7314	0.46098	0.0966:0.0:0.9034:0.0	.	174;174	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	Q	174	ENSP00000251472:E174Q	ENSP00000251472:E174Q	E	+	1	0	MAST1	12819457	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.812000	0.86109	1.059000	0.40554	0.491000	0.48974	GAG		0.652	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		24	54	0	0	0	0	24	54				
SYMPK	8189	broad.mit.edu	37	19	46318949	46318949	+	Missense_Mutation	SNP	C	C	T	rs533280327		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:46318949C>T	ENST00000245934.7	-	27	3938	c.3694G>A	c.(3694-3696)Gca>Aca	p.A1232T	RSPH6A_ENST00000597055.1_5'Flank|RSPH6A_ENST00000221538.3_5'Flank|SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1232					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCGCCCGCTGCCGTCTCCTGG	0.701													C|||	1	0.000199681	0.0	0.0	5008	,	,		8988	0.001		0.0	False		,,,				2504	0.0					uc002pdn.2		NA																	0				ovary(1)	1						c.(3694-3696)GCA>ACA		symplekin							13.0	14.0	13.0					19																	46318949		2199	4298	6497	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46318949C>T	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.3694G>A	19.37:g.46318949C>T	ENSP00000245934:p.Ala1232Thr					RSPH6A_uc002pdm.2_5'Flank	p.A1232T	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	27	3939	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	1232					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.3694G>A	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392981	0.42410	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.35	-1.73	0.08081	.	0.484707	0.18854	N	0.129332	T	0.15609	0.0376	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.08027	-1.0742	9	0.37606	T	0.19	.	0.7085	0.00920	0.1689:0.3619:0.165:0.3042	.	1232	Q92797	SYMPK_HUMAN	T	1232	.	ENSP00000245934:A1232T	A	-	1	0	SYMPK	51010789	0.046000	0.20272	0.025000	0.17156	0.003000	0.03518	0.511000	0.22739	0.139000	0.18822	0.543000	0.68304	GCA		0.701	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		4	13	0	0	0	0	4	13				
LILRA1	11024	broad.mit.edu	37	19	55107315	55107315	+	Silent	SNP	C	C	T	rs565937333	byFrequency	TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:55107315C>T	ENST00000251372.3	+	6	1055	c.873C>T	c.(871-873)taC>taT	p.Y291Y	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	291	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCCGCTCCTACGGGGGCCAGT	0.662													c|||	42	0.00838658	0.0	0.0	5008	,	,		14899	0.0		0.0	False		,,,				2504	0.0429					uc002qgh.1		NA																	0				skin(2)|ovary(1)	3						c.(871-873)TAC>TAT		leukocyte immunoglobulin-like receptor,							39.0	55.0	50.0					19																	55107315		2202	4300	6502	SO:0001819	synonymous_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55107315C>T	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.873C>T	19.37:g.55107315C>T						LILRA2_uc010yfg.1_Silent_p.Y289Y|LILRA1_uc010yfh.1_Silent_p.Y291Y	p.Y291Y	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	6	1055	+			291			Extracellular (Potential).|Ig-like C2-type 3.		O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	c.873C>T	CCDS12901.1																																																																																				0.662	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		28	70	0	0	0	0	28	70				
HECW2	57520	broad.mit.edu	37	2	197183966	197183966	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr2:197183966C>T	ENST00000260983.3	-	9	1830	c.1648G>A	c.(1648-1650)Ggt>Agt	p.G550S	HECW2_ENST00000409111.1_Missense_Mutation_p.G194S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	550					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCGCCTTCACCTTCCTCTGGG	0.582																																						uc002utm.1		NA																	0				skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(1648-1650)GGT>AGT		HECT, C2 and WW domain containing E3 ubiquitin							59.0	55.0	56.0					2																	197183966		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197183966C>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1648G>A	2.37:g.197183966C>T	ENSP00000260983:p.Gly550Ser					HECW2_uc002utl.1_Missense_Mutation_p.G194S	p.G550S	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			9	1831	-			550					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.1648G>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	4.645	0.119902	0.08881	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.28069	1.64;1.63	5.19	0.126	0.14722	.	1.444430	0.03322	N	0.192128	T	0.13329	0.0323	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22591	-1.0212	10	0.12103	T	0.63	.	9.3723	0.38261	0.0:0.581:0.0:0.419	.	550	Q9P2P5	HECW2_HUMAN	S	194;550	ENSP00000386775:G194S;ENSP00000260983:G550S	ENSP00000260983:G550S	G	-	1	0	HECW2	196892211	0.000000	0.05858	0.001000	0.08648	0.878000	0.50629	0.079000	0.14782	0.109000	0.17891	0.561000	0.74099	GGT		0.582	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		13	41	0	0	0	0	13	41				
KCNE4	23704	broad.mit.edu	37	2	223918016	223918016	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr2:223918016C>T	ENST00000281830.3	+	2	952	c.621C>T	c.(619-621)aaC>aaT	p.N207N	KCNE4_ENST00000488477.2_Intron|KCNE4_ENST00000604125.1_Silent_p.N156N			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	207						apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	voltage-gated potassium channel activity (GO:0005249)			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGCCCCTCAACGAGAGCAGCG	0.627																																						uc002vnl.3		NA																	0				ovary(1)	1						c.(466-468)AAC>AAT		potassium voltage-gated channel, Isk-related							32.0	37.0	35.0					2																	223918016		2203	4295	6498	SO:0001819	synonymous_variant	23704					integral to membrane	voltage-gated potassium channel activity	g.chr2:223918016C>T	AY065987	CCDS2456.1, CCDS2456.2	2q36.1	2008-02-05			ENSG00000152049	ENSG00000152049		"""Potassium channels"""	6244	protein-coding gene	gene with protein product		607775				10219239, 12670483	Standard	NM_080671		Approved	MiRP3	uc002vnl.5	Q8WWG9	OTTHUMG00000133161	ENST00000281830.3:c.621C>T	2.37:g.223918016C>T							p.N156N	NM_080671	NP_542402	Q8WWG9	KCNE4_HUMAN		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)	2	622	+		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)	156			Cytoplasmic (Potential).		B7Z275|Q53SM4|Q96CC4	Silent	SNP	ENST00000281830.3	37	c.468C>T																																																																																					0.627	KCNE4-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000330997.2	NM_080671		10	40	0	0	0	0	10	40				
VPS16	64601	broad.mit.edu	37	20	2844656	2844656	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr20:2844656A>G	ENST00000380445.3	+	16	1610	c.1538A>G	c.(1537-1539)gAc>gGc	p.D513G	PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000380469.3_Missense_Mutation_p.D369G|VPS16_ENST00000380443.3_Missense_Mutation_p.D199G|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	513					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AAGCTGGGGGACACGCCTGGT	0.582																																						uc002whe.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1537-1539)GAC>GGC		vacuolar protein sorting 16 isoform 1							96.0	92.0	94.0					20																	2844656		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2844656A>G	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.1538A>G	20.37:g.2844656A>G	ENSP00000369810:p.Asp513Gly					VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.D369G|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.D199G|VPS16_uc002whi.2_5'UTR	p.D513G	NM_022575	NP_072097	Q9H269	VPS16_HUMAN			16	1586	+			513					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.1538A>G	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	A	19.32	3.805222	0.70682	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000453689;ENST00000380443	T;T;T	0.42900	0.97;0.98;0.96	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.39708	0.1088	N	0.21508	0.67	0.80722	D	1	D;P;D	0.56521	0.976;0.898;0.976	P;P;P	0.52909	0.696;0.713;0.696	T	0.15665	-1.0429	10	0.34782	T	0.22	-23.7209	12.6255	0.56628	1.0:0.0:0.0:0.0	.	199;369;513	Q5JUA8;Q9H269-2;Q9H269	.;.;VPS16_HUMAN	G	513;369;251;199	ENSP00000369810:D513G;ENSP00000369836:D369G;ENSP00000369808:D199G	ENSP00000369808:D199G	D	+	2	0	VPS16	2792656	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.370000	0.73114	2.079000	0.62486	0.459000	0.35465	GAC		0.582	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		5	64	0	0	0	0	5	64				
PHACTR3	116154	broad.mit.edu	37	20	58318189	58318189	+	Missense_Mutation	SNP	G	G	A	rs143288140		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr20:58318189G>A	ENST00000371015.1	+	2	613	c.146G>A	c.(145-147)cGt>cAt	p.R49H	PHACTR3_ENST00000355648.4_Missense_Mutation_p.R8H|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R8H|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R8H|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R46H|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R8H|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R8H	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	49						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.R49H(3)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCCCCGGCGCGTCCTGAATAT	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		18499	0.001		0.0	False		,,,				2504	0.0					uc002yau.2		NA																	3	Substitution - Missense(3)	p.R49H(1)	ovary(1)|lung(1)|large_intestine(1)	ovary(2)|pancreas(1)	3						c.(145-147)CGT>CAT		phosphatase and actin regulator 3 isoform 1		G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	86.0	95.0	91.0		137,23,146,23,23	4.4	0.1	20	dbSNP_134	91	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense,missense	PHACTR3	NM_001199505.1,NM_001199506.1,NM_080672.3,NM_183244.1,NM_183246.1	29,29,29,29,29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	46/557,8/519,49/560,8/519,8/449	58318189	2,13004	2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58318189G>A	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.146G>A	20.37:g.58318189G>A	ENSP00000360054:p.Arg49His					PHACTR3_uc002yat.2_Missense_Mutation_p.R46H|PHACTR3_uc010zzw.1_Missense_Mutation_p.R8H|PHACTR3_uc002yav.2_Missense_Mutation_p.R8H|PHACTR3_uc002yaw.2_Missense_Mutation_p.R8H|PHACTR3_uc002yax.2_Missense_Mutation_p.R8H	p.R49H	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		2	613	+	all_lung(29;0.00344)		49					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.146G>A	CCDS13480.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.84	2.357583	0.41801	0.0	2.33E-4	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.45668	1.58;1.68;0.89;1.27;1.27;1.27;0.89	4.4	4.4	0.53042	.	0.105543	0.64402	D	0.000003	T	0.31857	0.0810	L	0.43152	1.355	0.54753	D	0.999982	B;P;P	0.46395	0.026;0.53;0.877	B;B;B	0.32022	0.016;0.085;0.139	T	0.32348	-0.9910	10	0.48119	T	0.1	-14.0518	15.9499	0.79827	0.0:0.0:1.0:0.0	.	8;49;46	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	H	46;49;8;8;8;8;8	ENSP00000353002:R46H;ENSP00000360054:R49H;ENSP00000379001:R8H;ENSP00000442483:R8H;ENSP00000347866:R8H;ENSP00000378998:R8H;ENSP00000354555:R8H	ENSP00000347866:R8H	R	+	2	0	PHACTR3	57751584	1.000000	0.71417	0.077000	0.20336	0.558000	0.35554	4.878000	0.63093	1.988000	0.58038	0.455000	0.32223	CGT		0.567	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		24	86	0	0	0	0	24	86				
SCAF4	57466	broad.mit.edu	37	21	33065610	33065610	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr21:33065610T>A	ENST00000286835.7	-	12	1892	c.1510A>T	c.(1510-1512)Agt>Tgt	p.S504C	SCAF4_ENST00000434667.3_Missense_Mutation_p.S489C|SCAF4_ENST00000399804.1_Missense_Mutation_p.S504C	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	504						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GAGTTACCACTTGCAGTTTCC	0.388																																						uc002ypd.2		NA																	0					0						c.(1510-1512)AGT>TGT		splicing factor, arginine/serine-rich 15 isoform							123.0	125.0	124.0					21																	33065610		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33065610T>A	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1510A>T	21.37:g.33065610T>A	ENSP00000286835:p.Ser504Cys					SFRS15_uc002ype.2_Missense_Mutation_p.S504C|SFRS15_uc010glu.2_Missense_Mutation_p.S489C|SFRS15_uc002ypf.1_Missense_Mutation_p.S178C	p.S504C	NM_020706	NP_065757	O95104	SFR15_HUMAN			12	1936	-			504					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.1510A>T	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.862198	0.71949	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.32272	1.46;1.46;1.46	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000001	T	0.56077	0.1961	M	0.75615	2.305	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.996;0.994;0.998;0.996	T	0.59899	-0.7367	10	0.56958	D	0.05	.	15.0792	0.72103	0.0:0.0:0.0:1.0	.	489;504;504;504	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	C	489;504;504	ENSP00000402377:S489C;ENSP00000286835:S504C;ENSP00000382703:S504C	ENSP00000286835:S504C	S	-	1	0	SCAF4	31987481	1.000000	0.71417	0.985000	0.45067	0.990000	0.78478	6.221000	0.72243	1.958000	0.56883	0.460000	0.39030	AGT		0.388	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		20	58	0	0	0	0	20	58				
ZNF860	344787	broad.mit.edu	37	3	32032156	32032156	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr3:32032156C>T	ENST00000360311.4	+	2	2134	c.1585C>T	c.(1585-1587)Cat>Tat	p.H529Y		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	529					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|lung(4)|ovary(1)	8						TGCACGTCATCATAGACTTCA	0.383																																						uc011axg.1		NA																	0				ovary(1)	1						c.(1585-1587)CAT>TAT		zinc finger protein 860							36.0	32.0	34.0					3																	32032156		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32032156C>T	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1585C>T	3.37:g.32032156C>T	ENSP00000373274:p.His529Tyr						p.H529Y	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN			2	2134	+			529			C2H2-type 11.		B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1585C>T	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	C	6.624	0.483606	0.12581	.	.	ENSG00000197385	ENST00000360311	T	0.17691	2.26	0.309	0.309	0.15820	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06188	0.0160	N	0.03608	-0.345	0.09310	N	1	B	0.15141	0.012	B	0.04013	0.001	T	0.42882	-0.9425	8	.	.	.	.	6.4239	0.21758	0.0:0.9998:0.0:2.0E-4	.	529	A6NHJ4	ZN860_HUMAN	Y	529	ENSP00000373274:H529Y	.	H	+	1	0	ZNF860	32007160	0.039000	0.19947	0.009000	0.14445	0.008000	0.06430	0.458000	0.21892	0.385000	0.24970	0.386000	0.25728	CAT		0.383	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			19	41	0	0	0	0	19	41				
OR5H15	403274	broad.mit.edu	37	3	97887879	97887879	+	Silent	SNP	T	T	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr3:97887879T>C	ENST00000356526.2	+	1	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C112C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CCACAGAATGTTTTCTCTTGG	0.378																																						uc011bgu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(334-336)TGT>TGC		olfactory receptor, family 5, subfamily H,							119.0	117.0	117.0					3																	97887879		2203	4298	6501	SO:0001819	synonymous_variant	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887879T>C		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.336T>C	3.37:g.97887879T>C							p.C112C	NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN			1	336	+			112			Helical; Name=3; (Potential).			Silent	SNP	ENST00000356526.2	37	c.336T>C	CCDS33799.1																																																																																				0.378	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			3	143	0	0	0	0	3	143				
PLXNA1	5361	broad.mit.edu	37	3	126733334	126733334	+	Missense_Mutation	SNP	C	C	T	rs549841697		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr3:126733334C>T	ENST00000393409.2	+	12	2618	c.2618C>T	c.(2617-2619)aCg>aTg	p.T873M	PLXNA1_ENST00000251772.4_Missense_Mutation_p.T850M	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	873	IPT/TIG 1.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCCCCCGAGACGGGCCCGAGG	0.706													C|||	1	0.000199681	0.0	0.0014	5008	,	,		11496	0.0		0.0	False		,,,				2504	0.0					uc003ejg.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(2548-2550)ACG>ATG		plexin A1							26.0	32.0	30.0					3																	126733334		2202	4297	6499	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126733334C>T	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2618C>T	3.37:g.126733334C>T	ENSP00000377061:p.Thr873Met						p.T850M	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	12	2553	+			873			IPT/TIG 1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000393409.2	37	c.2549C>T	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895361	0.33442	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.78364	-1.17;-1.17	3.5	3.5	0.40072	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.093516	0.44483	D	0.000446	T	0.73179	0.3554	L	0.60455	1.87	0.54753	D	0.999983	P	0.38551	0.636	B	0.35607	0.206	T	0.76884	-0.2794	10	0.44086	T	0.13	.	15.5931	0.76554	0.0:1.0:0.0:0.0	.	873	Q9UIW2	PLXA1_HUMAN	M	873;850	ENSP00000377061:T873M;ENSP00000251772:T850M	ENSP00000251772:T850M	T	+	2	0	PLXNA1	128216024	0.997000	0.39634	1.000000	0.80357	0.525000	0.34531	3.533000	0.53561	1.981000	0.57761	0.484000	0.47621	ACG		0.706	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		9	33	0	0	0	0	9	33				
LRRC15	131578	broad.mit.edu	37	3	194080356	194080356	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr3:194080356C>A	ENST00000347624.3	-	2	1502	c.1417G>T	c.(1417-1419)Gtt>Ttt	p.V473F	LRRC15_ENST00000428839.1_Missense_Mutation_p.V479F|LRRC15_ENST00000439944.2_Missense_Mutation_p.V479F	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	473	LRRCT.				negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		ACGCTTGGAACAGCAACGTTG	0.542																																						uc003ftu.2		NA																	0				ovary(3)	3						c.(1417-1419)GTT>TTT		leucine rich repeat containing 15 isoform b							154.0	135.0	141.0					3																	194080356		2203	4300	6503	SO:0001583	missense	131578					integral to membrane		g.chr3:194080356C>A	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1417G>T	3.37:g.194080356C>A	ENSP00000306276:p.Val473Phe					LRRC15_uc003ftt.2_Missense_Mutation_p.V479F	p.V473F	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	1503	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		473			LRRCT.|Extracellular (Potential).		Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	c.1417G>T	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.268141	0.00259	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.57907	0.37;0.4;0.4	5.08	3.3	0.37823	Cysteine-rich flanking region, C-terminal (1);	1.455320	0.04585	N	0.395596	T	0.43299	0.1241	N	0.22421	0.69	0.09310	N	1	B;B	0.25206	0.073;0.12	B;B	0.24269	0.023;0.052	T	0.39078	-0.9631	10	0.52906	T	0.07	.	10.1266	0.42654	0.0:0.8435:0.0:0.1565	.	473;479	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	F	473;479;479	ENSP00000306276:V473F;ENSP00000389128:V479F;ENSP00000413707:V479F	ENSP00000306276:V473F	V	-	1	0	LRRC15	195561651	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.371000	0.07513	0.667000	0.31107	-0.137000	0.14449	GTT		0.542	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			6	25	1	0	8.13e-05	9.65e-05	6	25				
PDS5A	23244	broad.mit.edu	37	4	39978105	39978105	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:39978105C>T	ENST00000303538.8	-	2	632	c.93G>A	c.(91-93)gaG>gaA	p.E31E	PDS5A_ENST00000503396.1_Silent_p.E31E	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TGTCGGTGATCTCTTTTACCC	0.567											OREG0016159	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003guv.3		NA																	0					0						c.(91-93)GAG>GAA		PDS5, regulator of cohesion maintenance, homolog							155.0	165.0	162.0					4																	39978105		1973	4157	6130	SO:0001819	synonymous_variant	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39978105C>T	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.93G>A	4.37:g.39978105C>T			OREG0016159	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	890	PDS5A_uc010ifo.2_5'UTR|PDS5A_uc003guw.3_Silent_p.E31E	p.E31E	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			2	633	-			31						Silent	SNP	ENST00000303538.8	37	c.93G>A	CCDS47045.1																																																																																				0.567	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		37	107	0	0	0	0	37	107				
ALPK1	80216	broad.mit.edu	37	4	113347690	113347690	+	Silent	SNP	G	G	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:113347690G>T	ENST00000458497.1	+	8	969	c.690G>T	c.(688-690)ccG>ccT	p.P230P	ALPK1_ENST00000504176.2_Silent_p.P152P|ALPK1_ENST00000177648.9_Silent_p.P230P	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	230							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTCCTCAGCCGGATAAAAAGG	0.423																																						uc003iap.3		NA																	0				ovary(5)	5						c.(688-690)CCG>CCT		alpha-kinase 1							245.0	243.0	244.0					4																	113347690		2203	4300	6503	SO:0001819	synonymous_variant	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113347690G>T	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.690G>T	4.37:g.113347690G>T						ALPK1_uc003ian.3_Silent_p.P230P|ALPK1_uc011cfx.1_Silent_p.P152P|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Silent_p.P58P	p.P230P	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	8	969	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	230					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Silent	SNP	ENST00000458497.1	37	c.690G>T	CCDS3697.1																																																																																				0.423	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		19	64	1	0	8.1e-08	1.03e-07	19	64				
FAT4	79633	broad.mit.edu	37	4	126373729	126373729	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:126373729G>T	ENST00000394329.3	+	9	11571	c.11558G>T	c.(11557-11559)gGa>gTa	p.G3853V	FAT4_ENST00000335110.5_Missense_Mutation_p.G2151V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3853	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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						TGTCTGCCAGGATATGCGGGT	0.463																																						uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(11557-11559)GGA>GTA		FAT tumor suppressor homolog 4 precursor							91.0	91.0	91.0					4																	126373729		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126373729G>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.11558G>T	4.37:g.126373729G>T	ENSP00000377862:p.Gly3853Val					FAT4_uc011cgp.1_Missense_Mutation_p.G2151V|FAT4_uc003ifi.1_Missense_Mutation_p.G1331V	p.G3853V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	11558	+			3853			Extracellular (Potential).|EGF-like 1.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.11558G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315845	0.81469	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.96587	-4.06;-3.78	5.41	5.41	0.78517	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.34906	U	0.003596	D	0.98448	0.9483	M	0.88310	2.945	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.99301	1.0901	10	0.72032	D	0.01	.	19.1929	0.93674	0.0:0.0:1.0:0.0	.	2151;3853;3853	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	V	3853;2151	ENSP00000377862:G3853V;ENSP00000335169:G2151V	ENSP00000335169:G2151V	G	+	2	0	FAT4	126593179	1.000000	0.71417	0.863000	0.33907	0.875000	0.50365	9.502000	0.97981	2.527000	0.85204	0.561000	0.74099	GGA		0.463	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		11	46	1	0	7.04e-09	9.03e-09	11	46				
PCDH10	57575	broad.mit.edu	37	4	134071537	134071537	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:134071537G>A	ENST00000264360.5	+	1	1068	c.242G>A	c.(241-243)cGc>cAc	p.R81H	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	81	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AAAATAGACCGCGAACAAATC	0.567																																						uc003iha.2		NA																	0				ovary(2)	2						c.(241-243)CGC>CAC		protocadherin 10 isoform 1 precursor							69.0	75.0	73.0					4																	134071537		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134071537G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.242G>A	4.37:g.134071537G>A	ENSP00000264360:p.Arg81His					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R81H	p.R81H	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1068	+			81			Cadherin 1.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.242G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840522	0.71488	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53857	0.6	4.66	4.66	0.58398	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	0.000000	0.45867	D	0.000331	T	0.81024	0.4737	H	0.95470	3.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.87383	0.2358	10	0.87932	D	0	.	17.3261	0.87248	0.0:0.0:1.0:0.0	.	81;81	Q9P2E7;Q96SF0	PCD10_HUMAN;.	H	81	ENSP00000264360:R81H	ENSP00000264360:R81H	R	+	2	0	PCDH10	134290987	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	9.657000	0.98554	2.403000	0.81681	0.555000	0.69702	CGC		0.567	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		27	90	0	0	0	0	27	90				
SCOC	60592	broad.mit.edu	37	4	141300319	141300319	+	Missense_Mutation	SNP	C	C	A	rs565078348		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:141300319C>A	ENST00000608372.1	+	2	253	c.226C>A	c.(226-228)Ccc>Acc	p.P76T	SCOC_ENST00000394205.3_Missense_Mutation_p.P39T|SCOC_ENST00000502535.1_5'UTR|SCOC_ENST00000506597.1_Missense_Mutation_p.P76T|SCOC_ENST00000394201.4_5'UTR|SCOC_ENST00000394203.3_Missense_Mutation_p.P39T|SCOC_ENST00000512749.1_5'UTR|SCOC_ENST00000510586.1_5'UTR|SCOC_ENST00000506322.1_5'UTR|SCOC_ENST00000338517.4_Missense_Mutation_p.P39T			Q9UIL1	SCOC_HUMAN	short coiled-coil protein	76					positive regulation of macroautophagy (GO:0016239)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5	all_hematologic(180;0.162)					AAGTTTGTTACCCAAGATGAT	0.343																																						uc003iif.2		NA																	0					0						c.(226-228)CCC>ACC		short coiled-coil protein isoform 1							254.0	251.0	252.0					4																	141300319		2203	4300	6503	SO:0001583	missense	60592					Golgi apparatus|nucleus	protein binding	g.chr4:141300319C>A	AK027797	CCDS3750.1, CCDS54806.1, CCDS54807.1	4q28.3	2014-05-22	2003-03-19		ENSG00000153130	ENSG00000153130			20335	protein-coding gene	gene with protein product			"""short coiled coil protein"""			11303027	Standard	NM_032547		Approved	HRIHFB2072, SCOCO	uc011che.1	Q9UIL1	OTTHUMG00000133416	ENST00000608372.1:c.226C>A	4.37:g.141300319C>A	ENSP00000477352:p.Pro76Thr					SCOC_uc003iib.2_Missense_Mutation_p.P39T|SCOC_uc011che.1_Missense_Mutation_p.P39T|SCOC_uc003iid.2_Missense_Mutation_p.P39T|SCOC_uc011chf.1_Missense_Mutation_p.P39T|SCOC_uc011chg.1_Missense_Mutation_p.P39T|SCOC_uc011chh.1_Missense_Mutation_p.P76T|SCOC_uc003iig.2_Missense_Mutation_p.P76T	p.P76T	NM_001153484	NP_001146956	Q9UIL1	SCOC_HUMAN			2	253	+	all_hematologic(180;0.162)		76					B7WPH7|D3DNY7|E9PB65|Q6P5T9|Q7L2Y0|Q7Z4P2|Q96JY9|Q9BZB2	Missense_Mutation	SNP	ENST00000608372.1	37	c.226C>A	CCDS54806.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692818	0.30052	.	.	ENSG00000153130	ENST00000394205;ENST00000338517;ENST00000394203;ENST00000394201;ENST00000506597	.	.	.	5.96	-0.302	0.12796	.	0.319207	0.34828	N	0.003653	T	0.16938	0.0407	L	0.29908	0.895	0.18873	N	0.999981	B;B;B;B	0.25850	0.136;0.013;0.007;0.002	B;B;B;B	0.18871	0.023;0.005;0.003;0.003	T	0.06734	-1.0810	9	0.28530	T	0.3	-22.1412	0.5589	0.00676	0.2516:0.2862:0.1237:0.3384	.	76;76;39;39	E9PB65;Q9UIL1;Q9UIL1-3;Q9UIL1-2	.;SCOC_HUMAN;.;.	T	39;39;39;76;76	.	ENSP00000345262:P39T	P	+	1	0	SCOC	141519769	0.001000	0.12720	0.086000	0.20670	0.507000	0.33981	-0.476000	0.06591	0.053000	0.16036	0.650000	0.86243	CCC		0.343	SCOC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257274.2			23	113	1	0	5.62e-17	7.51e-17	23	113				
ZNF827	152485	broad.mit.edu	37	4	146770712	146770712	+	Splice_Site	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:146770712C>T	ENST00000508784.1	-	6	2210	c.1983G>A	c.(1981-1983)gcG>gcA	p.A661A	ZNF827_ENST00000511534.1_5'UTR|ZNF827_ENST00000379448.4_Splice_Site_p.A661A|ZNF827_ENST00000513320.1_Splice_Site_p.A311A			Q17R98	ZN827_HUMAN	zinc finger protein 827	661					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TGTAGCTTTCCGCTGCAAGTA	0.438																																						uc003ikn.2		NA																	0					0						c.(1981-1983)GCG>GCA		zinc finger protein 827							122.0	116.0	118.0					4																	146770712		2203	4300	6503	SO:0001630	splice_region_variant	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146770712C>T	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1982-1G>A	4.37:g.146770712C>T						ZNF827_uc003ikm.2_Silent_p.A661A|ZNF827_uc010iox.2_Silent_p.A311A	p.A661A	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			6	2031	-	all_hematologic(180;0.151)		661					B7ZL52|Q7Z4S7|Q8N279	Silent	SNP	ENST00000508784.1	37	c.1983G>A																																																																																					0.438	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835	Silent	21	84	0	0	0	0	21	84				
FAT1	2195	broad.mit.edu	37	4	187629108	187629108	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:187629108G>T	ENST00000441802.2	-	2	2083	c.1874C>A	c.(1873-1875)tCa>tAa	p.S625*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	625	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCGCTTTAATGACAATACCCC	0.408										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(1873-1875)TCA>TAA		FAT tumor suppressor 1 precursor							78.0	72.0	74.0					4																	187629108		1868	4091	5959	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187629108G>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1874C>A	4.37:g.187629108G>T	ENSP00000406229:p.Ser625*	HNSCC(5;0.00058)				FAT1_uc010iso.1_Nonsense_Mutation_p.S625*	p.S625*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	2062	-			625			Extracellular (Potential).|Cadherin 5.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.1874C>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	33	5.220892	0.95139	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.4	5.4	0.78164	.	0.062472	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3673	0.94469	0.0:0.0:1.0:0.0	.	.	.	.	X	625	.	ENSP00000260147:S625X	S	-	2	0	FAT1	187866102	1.000000	0.71417	0.023000	0.16930	0.003000	0.03518	9.657000	0.98554	2.805000	0.96524	0.655000	0.94253	TCA		0.408	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		18	45	1	0	1.01e-13	1.33e-13	18	45				
SDHA	6389	broad.mit.edu	37	5	225544	225544	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr5:225544A>G	ENST00000264932.6	+	4	438	c.323A>G	c.(322-324)aAt>aGt	p.N108S	SDHA_ENST00000504309.1_Missense_Mutation_p.N108S|SDHA_ENST00000510361.1_Intron	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	108					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GGAGGAATCAATGCTGCTCTG	0.572									Familial Paragangliomas																													uc003jao.3		NA																	0					0						c.(322-324)AAT>AGT		succinate dehydrogenase complex, subunit A,	Succinic acid(DB00139)						72.0	79.0	76.0					5																	225544		2203	4300	6503	SO:0001583	missense	6389	Familial_Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:225544A>G	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.323A>G	5.37:g.225544A>G	ENSP00000264932:p.Asn108Ser					SDHA_uc003jan.2_Missense_Mutation_p.N108S|SDHA_uc011clv.1_Missense_Mutation_p.N108S|SDHA_uc011clw.1_Intron|SDHA_uc003jap.3_Missense_Mutation_p.N108S|SDHA_uc003jaq.3_5'Flank	p.N108S	NM_004168	NP_004159	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		4	438	+			108					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.323A>G	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	-	12.61	1.988964	0.35131	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309	T;T	0.70631	-0.5;-0.5	5.27	5.27	0.74061	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.77452	0.4132	L	0.42008	1.315	0.80722	D	1	P;D;P;P	0.89917	0.854;1.0;0.718;0.589	P;D;B;B	0.97110	0.449;1.0;0.206;0.122	T	0.74538	-0.3632	10	0.27785	T	0.31	.	13.4858	0.61364	1.0:0.0:0.0:0.0	.	108;108;108;114	B4DYN5;D6RFM5;P31040;Q59GW8	.;.;DHSA_HUMAN;.	S	108	ENSP00000264932:N108S;ENSP00000426514:N108S	ENSP00000264932:N108S	N	+	2	0	SDHA	278544	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.640000	0.91028	2.136000	0.66102	0.524000	0.50904	AAT		0.572	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		4	97	0	0	0	0	4	97				
PCDHA13	56136	broad.mit.edu	37	5	140263259	140263259	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr5:140263259C>T	ENST00000289272.2	+	1	1406	c.1406C>T	c.(1405-1407)cCg>cTg	p.P469L	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.P469L|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	469	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAACAATCCGCCGGGCTGC	0.677																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1405-1407)CCG>CTG		protocadherin alpha 13 isoform 1 precursor							61.0	65.0	64.0					5																	140263259		2203	4300	6503	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140263259C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1406C>T	5.37:g.140263259C>T	ENSP00000289272:p.Pro469Leu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.P469L|PCDHA13_uc003lid.2_Missense_Mutation_p.P469L	p.P469L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1406	+			469			Cadherin 5.|Extracellular (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1406C>T	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708837	0.48517	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.54071	0.59;0.59	4.62	4.62	0.57501	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.67785	0.2930	L	0.58969	1.84	0.09310	N	1	D;D;P	0.60160	0.987;0.987;0.955	P;P;P	0.61874	0.895;0.761;0.512	T	0.60939	-0.7163	9	0.52906	T	0.07	.	17.2979	0.87174	0.0:1.0:0.0:0.0	.	469;469;469	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	L	469	ENSP00000386821:P469L;ENSP00000289272:P469L	ENSP00000289272:P469L	P	+	2	0	PCDHA13	140243443	0.006000	0.16342	0.990000	0.47175	0.914000	0.54420	1.519000	0.35888	2.386000	0.81285	0.556000	0.70494	CCG		0.677	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		44	121	0	0	0	0	44	121				
HAVCR2	84868	broad.mit.edu	37	5	156533761	156533761	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr5:156533761C>T	ENST00000307851.4	-	2	1001	c.271G>A	c.(271-273)Gga>Aga	p.G91R	HAVCR2_ENST00000522593.1_Missense_Mutation_p.G91R|CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'UTR	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	91	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G91R(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)			GACACATCTCCTTTGCGGAAA	0.453																																						uc003lwk.1		NA																	1	Substitution - Missense(1)		skin(1)		0						c.(271-273)GGA>AGA		T cell immunoglobulin mucin 3 precursor							157.0	143.0	148.0					5																	156533761		2203	4300	6503	SO:0001583	missense	84868					integral to membrane		g.chr5:156533761C>T	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.271G>A	5.37:g.156533761C>T	ENSP00000312002:p.Gly91Arg					HAVCR2_uc003lwl.2_Missense_Mutation_p.G91R	p.G91R	NM_032782	NP_116171	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	415	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	91			Ig-like V-type.|Extracellular (Potential).		B2RAY2|Q8WW60|Q96K94	Missense_Mutation	SNP	ENST00000307851.4	37	c.271G>A	CCDS4333.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308413	0.81247	.	.	ENSG00000135077	ENST00000307851;ENST00000522593	T;T	0.03330	3.97;3.97	5.48	5.48	0.80851	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.145294	0.43579	D	0.000556	T	0.15003	0.0362	L	0.55213	1.73	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01287	-1.1395	10	0.31617	T	0.26	-19.9231	18.4843	0.90823	0.0:1.0:0.0:0.0	.	91;91	Q8TDQ0-2;Q8TDQ0	.;HAVR2_HUMAN	R	91	ENSP00000312002:G91R;ENSP00000430873:G91R	ENSP00000312002:G91R	G	-	1	0	HAVCR2	156466339	0.998000	0.40836	0.208000	0.23602	0.002000	0.02628	5.402000	0.66332	2.722000	0.93159	0.655000	0.94253	GGA		0.453	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			4	133	0	0	0	0	4	133				
TENM2	57451	broad.mit.edu	37	5	167545383	167545383	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr5:167545383G>T	ENST00000518659.1	+	10	1939	c.1900G>T	c.(1900-1902)Gac>Tac	p.D634Y	TENM2_ENST00000545108.1_Missense_Mutation_p.D634Y|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000519204.1_Missense_Mutation_p.D513Y|TENM2_ENST00000520394.1_Missense_Mutation_p.D402Y|TENM2_ENST00000403607.2_Missense_Mutation_p.D467Y	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	634	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TGCAGAGTGCGACGTGCCCAT	0.572																																						uc010jjd.2		NA																	0				ovary(6)|central_nervous_system(4)	10						c.(1900-1902)GAC>TAC		odz, odd Oz/ten-m homolog 2							155.0	160.0	158.0					5																	167545383		2146	4255	6401	SO:0001583	missense	57451							g.chr5:167545383G>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1900G>T	5.37:g.167545383G>T	ENSP00000429430:p.Asp634Tyr					ODZ2_uc003lzq.2_Missense_Mutation_p.D513Y|ODZ2_uc003lzr.3_Missense_Mutation_p.D402Y|ODZ2_uc003lzt.3_5'UTR|uc003lzs.1_Intron	p.D634Y	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	10	1900	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.1900G>T		.	.	.	.	.	.	.	.	.	.	G	26.6	4.755651	0.89843	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.03772	3.97;3.81;3.97;3.97;3.97	4.92	4.92	0.64577	Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.26521	0.0648	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.06789	-1.0807	10	0.87932	D	0	.	18.1391	0.89633	0.0:0.0:1.0:0.0	.	634;402;513	Q9NT68;F8VNQ3;G3V106	TEN2_HUMAN;.;.	Y	634;634;513;402;467	ENSP00000429430:D634Y;ENSP00000438635:D634Y;ENSP00000428964:D513Y;ENSP00000427874:D402Y;ENSP00000384905:D467Y	ENSP00000384905:D467Y	D	+	1	0	ODZ2	167477961	1.000000	0.71417	0.974000	0.42286	0.998000	0.95712	9.869000	0.99810	2.278000	0.76064	0.655000	0.94253	GAC		0.572	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		49	179	1	0	3.86e-30	5.33e-30	49	179				
DRD1	1812	broad.mit.edu	37	5	174869350	174869350	+	Silent	SNP	G	G	A	rs147169569		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr5:174869350G>A	ENST00000393752.2	-	2	1745	c.753C>T	c.(751-753)gtC>gtT	p.V251V		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	251					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GAGAACATTCGACAGGCTTTC	0.478																																						uc003mcz.2		NA																	0				ovary(2)|skin(1)	3						c.(751-753)GTC>GTT		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						96.0	100.0	99.0					5																	174869350		2203	4300	6503	SO:0001819	synonymous_variant	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869350G>A	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.753C>T	5.37:g.174869350G>A							p.V251V	NM_000794	NP_000785	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1698	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	251			Cytoplasmic (Potential).		B2RA44|Q4QRJ0	Silent	SNP	ENST00000393752.2	37	c.753C>T	CCDS4393.1																																																																																				0.478	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		26	82	0	0	0	0	26	82				
HIST1H3G	8355	broad.mit.edu	37	6	26271609	26271609	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr6:26271609C>A	ENST00000305910.3	-	1	3	c.4G>T	c.(4-6)Gcc>Tcc	p.A2S	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	2					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						TTGGTGCGGGCCATCTCAGAC	0.552																																						uc003nhi.2		NA																	0					0						c.(4-6)GCC>TCC		H3 histone family, member H							23.0	27.0	26.0					6																	26271609		2188	4283	6471	SO:0001583	missense	8355				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26271609C>A	Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"""Histones / Replication-dependent"""	4772	protein-coding gene	gene with protein product		602815	"""H3 histone family, member H"", ""histone 1, H3g"""	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.4G>T	6.37:g.26271609C>A	ENSP00000439660:p.Ala2Ser					uc003nhj.2_5'Flank|HIST1H2BI_uc003nhk.2_5'Flank	p.A2S	NM_003534	NP_003525	P68431	H31_HUMAN			1	4	-			2					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000305910.3	37	c.4G>T	CCDS4602.1	.	.	.	.	.	.	.	.	.	.	.	15.13	2.743058	0.49151	.	.	ENSG00000256018	ENST00000305910	T	0.51574	0.7	4.36	4.36	0.52297	.	.	.	.	.	T	0.54838	0.1883	.	.	.	0.36622	D	0.875791	.	.	.	.	.	.	T	0.62553	-0.6830	6	0.66056	D	0.02	.	15.8573	0.78989	0.0:1.0:0.0:0.0	.	.	.	.	S	2	ENSP00000439660:A2S	ENSP00000439660:A2S	A	-	1	0	HIST1H3G	26379588	1.000000	0.71417	0.986000	0.45419	0.008000	0.06430	7.606000	0.82863	2.157000	0.67596	0.563000	0.77884	GCC		0.552	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040099.2	NM_003534		11	44	1	0	3.86e-05	4.63e-05	11	44				
KCNK5	8645	broad.mit.edu	37	6	39159505	39159505	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr6:39159505C>A	ENST00000359534.3	-	5	999	c.661G>T	c.(661-663)Gcc>Tcc	p.A221S		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	221					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CGGTACAGGGCGTGGTAGTTG	0.567																																						uc003oon.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(661-663)GCC>TCC		potassium channel, subfamily K, member 5							82.0	93.0	89.0					6																	39159505		2203	4300	6503	SO:0001583	missense	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39159505C>A	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.661G>T	6.37:g.39159505C>A	ENSP00000352527:p.Ala221Ser						p.A221S	NM_003740	NP_003731	O95279	KCNK5_HUMAN			5	1025	-			221					B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	c.661G>T	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	C	11.15	1.553716	0.27739	.	.	ENSG00000164626	ENST00000359534	T	0.24350	1.86	5.57	4.67	0.58626	Ion transport 2 (1);	0.265958	0.37219	N	0.002186	T	0.06234	0.0161	N	0.11870	0.19	0.35987	D	0.836402	B	0.27192	0.171	B	0.27262	0.078	T	0.21415	-1.0246	10	0.18276	T	0.48	.	12.1833	0.54223	0.1338:0.7372:0.129:0.0	.	221	O95279	KCNK5_HUMAN	S	221	ENSP00000352527:A221S	ENSP00000352527:A221S	A	-	1	0	KCNK5	39267483	0.944000	0.32072	1.000000	0.80357	0.993000	0.82548	1.887000	0.39698	2.619000	0.88677	0.561000	0.74099	GCC		0.567	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		42	109	1	0	6.53e-18	8.83e-18	42	109				
USP49	25862	broad.mit.edu	37	6	41774580	41774580	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr6:41774580G>A	ENST00000394253.3	-	3	471	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	USP49_ENST00000373009.3_Missense_Mutation_p.R48C|USP49_ENST00000373010.1_Missense_Mutation_p.R48C|USP49_ENST00000297229.2_Missense_Mutation_p.R48C|USP49_ENST00000373006.1_Missense_Mutation_p.R48C			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	48					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCAATATAGCGGCCGCAGGCC	0.592																																						uc003ori.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(142-144)CGC>TGC		ubiquitin thioesterase 49							85.0	92.0	89.0					6																	41774580		2203	4300	6503	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41774580G>A	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.142C>T	6.37:g.41774580G>A	ENSP00000377797:p.Arg48Cys						p.R48C	NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		4	364	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		48			UBP-type.		Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.142C>T		.	.	.	.	.	.	.	.	.	.	G	21.7	4.184672	0.78677	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.05	5.05	0.67936	.	0.105262	0.64402	D	0.000004	T	0.72423	0.3458	H	0.98238	4.18	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.82020	-0.0664	10	0.87932	D	0	-8.8892	13.1595	0.59537	0.0:0.0:0.8016:0.1984	.	48	Q70CQ1-2	.	C	48	ENSP00000377797:R48C;ENSP00000362101:R48C;ENSP00000362100:R48C;ENSP00000362097:R48C;ENSP00000297229:R48C	ENSP00000297229:R48C	R	-	1	0	USP49	41882558	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.859000	0.62954	2.624000	0.88883	0.655000	0.94253	CGC		0.592	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		5	132	0	0	0	0	5	132				
GLTSCR1L	23506	broad.mit.edu	37	6	42796801	42796801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr6:42796801C>T	ENST00000314073.5	+	6	906	c.730C>T	c.(730-732)Caa>Taa	p.Q244*	GLTSCR1L_ENST00000394168.1_Nonsense_Mutation_p.Q244*			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	244																	CAGCGGGCAGCAAGCCCCATC	0.448																																						uc003osn.1		NA																	0				ovary(1)	1						c.(730-732)CAA>TAA		hypothetical protein LOC23506							65.0	66.0	66.0					6																	42796801		2203	4300	6503	SO:0001587	stop_gained	23506							g.chr6:42796801C>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.730C>T	6.37:g.42796801C>T	ENSP00000313933:p.Gln244*					KIAA0240_uc003osm.1_Nonsense_Mutation_p.Q244*|KIAA0240_uc011duw.1_Nonsense_Mutation_p.Q244*|KIAA0240_uc003oso.1_Nonsense_Mutation_p.Q244*|KIAA0240_uc003osp.1_Nonsense_Mutation_p.Q244*	p.Q244*	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)		6	881	+	Colorectal(47;0.196)		244					A1L3W2|Q5TFZ3|Q92514	Nonsense_Mutation	SNP	ENST00000314073.5	37	c.730C>T	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	36	5.717288	0.96839	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	.	.	.	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-4.7533	19.1617	0.93535	0.0:1.0:0.0:0.0	.	.	.	.	X	244	.	ENSP00000313933:Q244X	Q	+	1	0	KIAA0240	42904779	1.000000	0.71417	0.996000	0.52242	0.923000	0.55619	4.084000	0.57650	2.581000	0.87130	0.655000	0.94253	CAA		0.448	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		16	47	0	0	0	0	16	47				
CHRM2	1129	broad.mit.edu	37	7	136699801	136699801	+	Silent	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr7:136699801C>T	ENST00000445907.2	+	3	717	c.189C>T	c.(187-189)ttC>ttT	p.F63F	CHRM2_ENST00000397608.3_Silent_p.F63F|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000453373.1_Silent_p.F63F|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Silent_p.F63F|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Silent_p.F63F|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Silent_p.F63F|hsa-mir-490_ENST00000586239.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	63					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ACTTTTTATTCAGCTTGGCCT	0.468																																						uc003vtf.1		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(187-189)TTC>TTT		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						212.0	180.0	191.0					7																	136699801		2203	4300	6503	SO:0001819	synonymous_variant	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136699801C>T		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.189C>T	7.37:g.136699801C>T						CHRM2_uc003vtg.1_Silent_p.F63F|CHRM2_uc003vtj.1_Silent_p.F63F|CHRM2_uc003vtk.1_Silent_p.F63F|CHRM2_uc003vtl.1_Silent_p.F63F|CHRM2_uc003vtm.1_Silent_p.F63F|CHRM2_uc003vti.1_Silent_p.F63F|CHRM2_uc003vto.1_Silent_p.F63F|CHRM2_uc003vtn.1_Silent_p.F63F|uc003vtp.1_Intron	p.F63F	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	812	+			63			Helical; Name=2; (By similarity).		Q4VBK6|Q9P1X9	Silent	SNP	ENST00000445907.2	37	c.189C>T	CCDS5843.1																																																																																				0.468	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			33	94	0	0	0	0	33	94				
MCM4	4173	broad.mit.edu	37	8	48883929	48883929	+	Missense_Mutation	SNP	G	G	T	rs151044076	byFrequency	TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr8:48883929G>T	ENST00000262105.2	+	12	2038	c.1829G>T	c.(1828-1830)cGc>cTc	p.R610L	MCM4_ENST00000523944.1_Missense_Mutation_p.R610L	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	610	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CTCAATGCGCGCACCTCTGTC	0.493																																						uc003xqk.1		NA																	0				ovary(2)|skin(2)	4						c.(1828-1830)CGC>CTC		minichromosome maintenance complex component 4							101.0	95.0	97.0					8																	48883929		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48883929G>T		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1829G>T	8.37:g.48883929G>T	ENSP00000262105:p.Arg610Leu					MCM4_uc003xql.1_Missense_Mutation_p.R610L|MCM4_uc011ldi.1_Missense_Mutation_p.R597L	p.R610L	NM_182746	NP_877423	P33991	MCM4_HUMAN			13	1924	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	610			MCM.		Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.1829G>T	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954075	0.92726	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229	T;T	0.12361	2.69;2.69	5.87	5.0	0.66597	ATPase, AAA+ type, core (1);	0.046568	0.85682	D	0.000000	T	0.59404	0.2191	H	0.99626	4.665	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.99	T	0.80065	-0.1538	10	0.87932	D	0	-20.9739	15.4071	0.74887	0.0666:0.0:0.9334:0.0	.	610;610	B3KMX0;P33991	.;MCM4_HUMAN	L	610;610;597;570	ENSP00000430194:R610L;ENSP00000262105:R610L	ENSP00000262105:R610L	R	+	2	0	MCM4	49046482	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.973000	0.88032	1.636000	0.50526	0.655000	0.94253	CGC		0.493	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		7	32	1	0	0.000274275	0.000317131	7	32				
PKHD1L1	93035	broad.mit.edu	37	8	110503288	110503288	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr8:110503288T>A	ENST00000378402.5	+	61	10176	c.10072T>A	c.(10072-10074)Ttg>Atg	p.L3358M		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3358					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACAGATGGATTGGACATAGA	0.378										HNSCC(38;0.096)																												uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(10072-10074)TTG>ATG		fibrocystin L precursor							140.0	132.0	134.0					8																	110503288		1895	4122	6017	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110503288T>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10072T>A	8.37:g.110503288T>A	ENSP00000367655:p.Leu3358Met	HNSCC(38;0.096)					p.L3358M	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		61	10176	+			3358			Extracellular (Potential).|PbH1 6.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.10072T>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.011448	0.54468	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.81739	-1.53;-1.53	5.41	-0.279	0.12890	Pectin lyase fold/virulence factor (1);	0.182151	0.36665	N	0.002479	T	0.76256	0.3962	M	0.76002	2.32	0.25874	N	0.983679	B	0.29936	0.262	B	0.32149	0.141	T	0.69584	-0.5106	10	0.72032	D	0.01	.	7.5007	0.27516	0.0:0.0799:0.4204:0.4997	.	3358	Q86WI1	PKHL1_HUMAN	M	3358;286	ENSP00000367655:L3358M;ENSP00000437376:L286M	ENSP00000367655:L3358M	L	+	1	2	PKHD1L1	110572464	0.001000	0.12720	0.981000	0.43875	0.984000	0.73092	-0.626000	0.05527	0.084000	0.17077	0.460000	0.39030	TTG		0.378	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		26	58	0	0	0	0	26	58				
FAM135B	51059	broad.mit.edu	37	8	139164609	139164609	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr8:139164609C>A	ENST00000395297.1	-	13	2279	c.2109G>T	c.(2107-2109)agG>agT	p.R703S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	703								p.R703R(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACTCCAGAGCCCTGCTTCGGG	0.547										HNSCC(54;0.14)																												uc003yuy.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)	9						c.(2107-2109)AGG>AGT		hypothetical protein LOC51059							45.0	46.0	46.0					8																	139164609		1919	4119	6038	SO:0001583	missense	51059							g.chr8:139164609C>A	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2109G>T	8.37:g.139164609C>A	ENSP00000378710:p.Arg703Ser	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.R604S|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.R265S|FAM135B_uc003yvb.2_Missense_Mutation_p.R265S	p.R703S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2280	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		703					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2109G>T	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956291	0.73902	.	.	ENSG00000147724	ENST00000395297	T	0.15952	2.38	5.65	2.83	0.33086	.	0.254138	0.38837	N	0.001560	T	0.32556	0.0833	M	0.71581	2.175	0.36253	D	0.854066	D;D;P	0.69078	0.997;0.977;0.799	P;P;B	0.61132	0.884;0.73;0.212	T	0.27191	-1.0081	10	0.46703	T	0.11	-16.7473	8.9537	0.35805	0.0:0.7559:0.0:0.2441	.	703;703;703	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	S	703	ENSP00000378710:R703S	ENSP00000276737:R703S	R	-	3	2	FAM135B	139233791	0.988000	0.35896	0.611000	0.29010	0.948000	0.59901	1.001000	0.29783	0.305000	0.22832	0.655000	0.94253	AGG		0.547	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		12	52	1	0	1.09e-07	1.38e-07	12	52				
ARHGAP39	80728	broad.mit.edu	37	8	145771119	145771119	+	Missense_Mutation	SNP	C	C	T	rs141083413		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr8:145771119C>T	ENST00000276826.5	-	5	2236	c.2035G>A	c.(2035-2037)Gtc>Atc	p.V679I	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.V679I|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.V679I|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	679					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GTGGGGAAGACGCAGCTGGAG	0.647																																						uc003zdt.1		NA																	0					0						c.(2035-2037)GTC>ATC		KIAA1688 protein		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	39.0	35.0	36.0		2035	5.2	1.0	8	dbSNP_134	36	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARHGAP39	NM_025251.1	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	679/1115	145771119	2,13004	2203	4300	6503	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145771119C>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.2035G>A	8.37:g.145771119C>T	ENSP00000276826:p.Val679Ile					ARHGAP39_uc011llk.1_Missense_Mutation_p.V679I|ARHGAP39_uc003zds.1_Missense_Mutation_p.V679I	p.V679I	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN			7	2590	-			679					B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.2035G>A		.	.	.	.	.	.	.	.	.	.	C	14.52	2.559690	0.45590	2.27E-4	1.16E-4	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.68765	-0.35;-0.09;-0.35	5.17	5.17	0.71159	.	0.709893	0.13275	N	0.400200	T	0.55257	0.1909	L	0.38531	1.155	0.33407	D	0.578113	B;B	0.32781	0.184;0.384	B;B	0.22753	0.019;0.041	T	0.61589	-0.7032	10	0.22706	T	0.39	-12.2795	16.1453	0.81562	0.0:1.0:0.0:0.0	.	679;679	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	I	679	ENSP00000276826:V679I;ENSP00000366522:V679I;ENSP00000445075:V679I	ENSP00000276826:V679I	V	-	1	0	ARHGAP39	145741927	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	5.673000	0.68109	2.413000	0.81919	0.650000	0.86243	GTC		0.647	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			9	40	0	0	0	0	9	40				
UBAP1	51271	broad.mit.edu	37	9	34241766	34241766	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:34241766T>C	ENST00000297661.4	+	4	978	c.743T>C	c.(742-744)cTg>cCg	p.L248P	UBAP1_ENST00000543944.1_Missense_Mutation_p.L284P|UBAP1_ENST00000536252.1_Missense_Mutation_p.L248P|UBAP1_ENST00000545103.1_Missense_Mutation_p.L312P|UBAP1_ENST00000359544.2_Missense_Mutation_p.L248P|UBAP1_ENST00000379186.4_Missense_Mutation_p.L248P|UBAP1_ENST00000540348.1_Missense_Mutation_p.L248P	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	248					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			AAGATGTCACTGTCTTCCAAA	0.468																																					NSCLC(109;1074 1634 14978 20375 39620)	uc003ztx.2		NA																	0					0						c.(742-744)CTG>CCG		ubiquitin associated protein 1							103.0	89.0	94.0					9																	34241766		2203	4300	6503	SO:0001583	missense	51271					cytoplasm		g.chr9:34241766T>C	AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"""ubiquitin associated protein"""	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.743T>C	9.37:g.34241766T>C	ENSP00000297661:p.Leu248Pro					UBAP1_uc010mka.1_Missense_Mutation_p.L284P|UBAP1_uc003zty.2_Missense_Mutation_p.L248P|UBAP1_uc011loi.1_Missense_Mutation_p.L284P|UBAP1_uc011loj.1_Missense_Mutation_p.L312P|KIF24_uc010mkb.2_Intron|UBAP1_uc003ztz.2_Missense_Mutation_p.L248P	p.L248P	NM_016525	NP_057609	Q9NZ09	UBAP1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00272)		4	978	+			248					B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Missense_Mutation	SNP	ENST00000297661.4	37	c.743T>C	CCDS6550.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.517755	0.27123	.	.	ENSG00000165006	ENST00000545103;ENST00000543944;ENST00000536252;ENST00000540348;ENST00000297661;ENST00000379186;ENST00000359544	T;T;T;T;T;T;T	0.49139	0.8;0.79;0.84;0.84;0.84;0.81;0.84	6.17	6.17	0.99709	.	0.250786	0.35936	N	0.002889	T	0.41003	0.1140	L	0.43152	1.355	0.80722	D	1	B;B;B;B	0.31769	0.224;0.224;0.339;0.125	B;B;B;B	0.33620	0.067;0.067;0.167;0.037	T	0.29941	-0.9995	10	0.33940	T	0.23	-33.7087	11.0511	0.47889	0.0:0.0685:0.0:0.9315	.	312;284;312;248	F5GXE2;F5H0J8;B7Z8N9;Q9NZ09	.;.;.;UBAP1_HUMAN	P	312;284;248;248;248;248;248	ENSP00000441024:L312P;ENSP00000439806:L284P;ENSP00000440456:L248P;ENSP00000439976:L248P;ENSP00000297661:L248P;ENSP00000368484:L248P;ENSP00000352541:L248P	ENSP00000297661:L248P	L	+	2	0	UBAP1	34231766	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.429000	0.44758	2.371000	0.80710	0.533000	0.62120	CTG		0.468	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001084.1			18	34	0	0	0	0	18	34				
FGD3	89846	broad.mit.edu	37	9	95776270	95776270	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:95776270A>C	ENST00000375482.3	+	9	1668	c.1172A>C	c.(1171-1173)cAc>cCc	p.H391P	FGD3_ENST00000337352.6_Missense_Mutation_p.H391P|FGD3_ENST00000416701.2_Missense_Mutation_p.H391P|FGD3_ENST00000538555.1_5'Flank	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	391	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CAGGACCGCCACCTCTTCCTG	0.632																																						uc004asw.2		NA																	0				ovary(1)|breast(1)	2						c.(1171-1173)CAC>CCC		FYVE, RhoGEF and PH domain containing 3							72.0	83.0	79.0					9																	95776270		2000	4143	6143	SO:0001583	missense	89846				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr9:95776270A>C	AK000004	CCDS43849.1, CCDS69619.1	9q22	2013-01-10	2004-08-24		ENSG00000127084	ENSG00000127084		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16027	protein-coding gene	gene with protein product			"""FGD1 family, member 3"""			11214971	Standard	NM_001083536		Approved	FLJ00004, ZFYVE5	uc004asz.2	Q5JSP0	OTTHUMG00000021032	ENST00000375482.3:c.1172A>C	9.37:g.95776270A>C	ENSP00000364631:p.His391Pro					FGD3_uc004asx.2_Missense_Mutation_p.H391P|FGD3_uc004asz.2_Missense_Mutation_p.H391P|FGD3_uc004ata.2_Missense_Mutation_p.H194P|FGD3_uc011luc.1_5'Flank	p.H391P	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN			9	1800	+			391			PH 1.		F8W7P2|Q4VX84|Q7Z7D9|Q8N5G1	Missense_Mutation	SNP	ENST00000375482.3	37	c.1172A>C	CCDS43849.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.106086	0.77096	.	.	ENSG00000127084	ENST00000375482;ENST00000416701;ENST00000337352	T;T;T	0.76060	-0.99;-0.99;-0.99	5.04	3.88	0.44766	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.40222	N	0.001147	T	0.79522	0.4460	L	0.54323	1.7	0.80722	D	1	D;D;D	0.62365	0.96;0.991;0.984	P;P;P	0.59643	0.782;0.861;0.861	T	0.80169	-0.1494	10	0.87932	D	0	.	11.1763	0.48601	0.8455:0.1545:0.0:0.0	.	391;391;391	Q5JSP0-2;F8W7P2;Q5JSP0	.;.;FGD3_HUMAN	P	391	ENSP00000364631:H391P;ENSP00000413833:H391P;ENSP00000336914:H391P	ENSP00000336914:H391P	H	+	2	0	FGD3	94816091	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.871000	0.92346	0.862000	0.35528	0.459000	0.35465	CAC		0.632	FGD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055493.1	NM_033086		10	109	0	0	0	0	10	109				
CRB2	286204	broad.mit.edu	37	9	126133118	126133118	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:126133118G>A	ENST00000373631.3	+	7	1787	c.1786G>A	c.(1786-1788)Ggt>Agt	p.G596S	CRB2_ENST00000373629.2_Missense_Mutation_p.G264S|CRB2_ENST00000359999.3_Missense_Mutation_p.G596S	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	596	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGAGGATCTCGGTGAGAACGT	0.652																																						uc004bnx.1		NA																	0				ovary(1)	1						c.(1786-1788)GGT>AGT		crumbs homolog 2 precursor							57.0	55.0	56.0					9																	126133118		2203	4300	6503	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126133118G>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1786G>A	9.37:g.126133118G>A	ENSP00000362734:p.Gly596Ser					CRB2_uc004bnw.1_Missense_Mutation_p.G596S	p.G596S	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN			7	1878	+			596			Extracellular (Potential).|Laminin G-like 1.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.1786G>A	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	5.559	0.288013	0.10513	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.75821	-0.97;-0.97;-0.97	5.03	0.826	0.18829	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.962011	0.08528	N	0.932529	T	0.57140	0.2033	L	0.33293	1	0.09310	N	1	B;B	0.15930	0.005;0.015	B;B	0.06405	0.001;0.002	T	0.40515	-0.9559	10	0.31617	T	0.26	.	0.9765	0.01426	0.3058:0.1154:0.3666:0.2123	.	596;596	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	S	596;596;264	ENSP00000353092:G596S;ENSP00000362734:G596S;ENSP00000362732:G264S	ENSP00000353092:G596S	G	+	1	0	CRB2	125172939	0.000000	0.05858	0.000000	0.03702	0.155000	0.21991	-0.698000	0.05092	0.156000	0.19299	0.448000	0.29417	GGT		0.652	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		3	68	0	0	0	0	3	68				
FAM78A	286336	broad.mit.edu	37	9	134136553	134136553	+	Missense_Mutation	SNP	C	C	T	rs185462653		TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:134136553C>T	ENST00000372271.3	-	2	875	c.508G>A	c.(508-510)Gtg>Atg	p.V170M	FAM78A_ENST00000372269.3_Missense_Mutation_p.V167M|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	170										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CTGACGGGCACGGCCCATGTG	0.577																																						uc004cak.2		NA																	0				ovary(1)	1						c.(508-510)GTG>ATG		hypothetical protein LOC286336							134.0	121.0	126.0					9																	134136553		2203	4300	6503	SO:0001583	missense	286336							g.chr9:134136553C>T	AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.508G>A	9.37:g.134136553C>T	ENSP00000361345:p.Val170Met					FAM78A_uc004caj.2_Missense_Mutation_p.V167M	p.V170M	NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)	2	848	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	170					Q86VQ9|Q9H7P4	Missense_Mutation	SNP	ENST00000372271.3	37	c.508G>A	CCDS6941.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	24.4	4.523993	0.85600	.	.	ENSG00000126882	ENST00000372269;ENST00000372271;ENST00000464831	.	.	.	4.75	4.75	0.60458	.	0.055892	0.64402	D	0.000001	T	0.77096	0.4080	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.68621	0.711;0.959	T	0.80365	-0.1413	9	0.87932	D	0	-26.3998	17.1064	0.86664	0.0:1.0:0.0:0.0	.	170;167	Q5JUQ0;Q5JUQ2	FA78A_HUMAN;.	M	167;170;139	.	ENSP00000361343:V167M	V	-	1	0	FAM78A	133126374	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.776000	0.85560	2.337000	0.79520	0.462000	0.41574	GTG		0.577	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054720.1	NM_033387		26	70	0	0	0	0	26	70				
SETX	23064	broad.mit.edu	37	9	135147149	135147149	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:135147149C>T	ENST00000224140.5	-	24	7329	c.7147G>A	c.(7147-7149)Gat>Aat	p.D2383N	SETX_ENST00000372169.2_Missense_Mutation_p.D2383N|SETX_ENST00000477049.1_5'UTR|SETX_ENST00000393220.1_Intron	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2383					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)			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)		ATAACACAATCCTTCTGCCGA	0.368																																						uc004cbk.2		NA																	0				ovary(2)|skin(1)	3						c.(7147-7149)GAT>AAT		senataxin							244.0	217.0	226.0					9																	135147149		2203	4300	6503	SO:0001583	missense	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135147149C>T	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.7147G>A	9.37:g.135147149C>T	ENSP00000224140:p.Asp2383Asn					SETX_uc004cbj.2_Missense_Mutation_p.D2002N|SETX_uc010mzt.2_Intron	p.D2383N	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	24	7330	-		Myeloproliferative disorder(178;0.204)	2383					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	c.7147G>A	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199946	0.58126	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169	D;D;D	0.93189	-3.18;-3.18;-3.18	5.5	5.5	0.81552	.	0.052305	0.64402	N	0.000001	D	0.93910	0.8051	M	0.80616	2.505	0.80722	D	1	B;B	0.19445	0.035;0.036	B;B	0.24541	0.054;0.033	D	0.91498	0.5217	10	0.87932	D	0	.	18.7421	0.91777	0.0:1.0:0.0:0.0	.	2383;2383	Q7Z333;Q7Z333-4	SETX_HUMAN;.	N	2383;625;2383	ENSP00000224140:D2383N;ENSP00000409143:D625N;ENSP00000361242:D2383N	ENSP00000224140:D2383N	D	-	1	0	SETX	134136970	1.000000	0.71417	0.999000	0.59377	0.252000	0.25951	5.986000	0.70563	2.740000	0.93945	0.650000	0.86243	GAT		0.368	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		7	177	0	0	0	0	7	177				
C9orf171	389799	broad.mit.edu	37	9	135447890	135447890	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:135447890A>C	ENST00000343036.2	+	7	1004	c.956A>C	c.(955-957)cAc>cCc	p.H319P	C9orf171_ENST00000393216.2_Missense_Mutation_p.H283P	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	319										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						AACTACACCCACCCCTAGCCC	0.597																																						uc004cbn.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(955-957)CAC>CCC		hypothetical protein LOC389799																																				SO:0001583	missense	389799							g.chr9:135447890A>C	AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.956A>C	9.37:g.135447890A>C	ENSP00000343290:p.His319Pro					C9orf171_uc004cbo.2_Missense_Mutation_p.H283P	p.H319P	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN			7	1004	+			319					Q147X1	Missense_Mutation	SNP	ENST00000343036.2	37	c.956A>C	CCDS6949.1	.	.	.	.	.	.	.	.	.	.	A	16.67	3.187873	0.57909	.	.	ENSG00000188523	ENST00000343036;ENST00000393216	T;T	0.24538	1.87;1.85	5.4	4.19	0.49359	.	0.558849	0.17096	N	0.187177	T	0.27967	0.0689	N	0.19112	0.55	0.27154	N	0.961336	D;D	0.64830	0.962;0.994	P;P	0.59889	0.605;0.865	T	0.03910	-1.0993	10	0.42905	T	0.14	.	8.7175	0.34421	0.808:0.192:0.0:0.0	.	283;319	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	P	319;283	ENSP00000343290:H319P;ENSP00000376909:H283P	ENSP00000343290:H319P	H	+	2	0	C9orf171	134437711	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	2.954000	0.49113	2.060000	0.61445	0.363000	0.22086	CAC		0.597	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254589.1	NM_207417		6	27	0	0	0	0	6	27				
STKLD1	169436	broad.mit.edu	37	9	136253278	136253278	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr9:136253278C>A	ENST00000371957.3	+	5	449	c.342C>A	c.(340-342)agC>agA	p.S114R	C9orf96_ENST00000426926.2_Missense_Mutation_p.S114R|C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		114	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ATGAGCTCAGCTTCCAGGAGG	0.567																																						uc004cdk.2		NA																	0				stomach(2)|central_nervous_system(2)	4						c.(340-342)AGC>AGA		hypothetical protein LOC169436							110.0	93.0	98.0					9																	136253278		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136253278C>A																												ENST00000371957.3:c.342C>A	9.37:g.136253278C>A	ENSP00000361025:p.Ser114Arg					C9orf96_uc004cdl.2_RNA	p.S114R	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	5	403	+			114			Protein kinase.		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.342C>A	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917615	0.33815	.	.	ENSG00000198870	ENST00000426926;ENST00000371957	T;T	0.26373	1.74;1.74	4.19	3.27	0.37495	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.278225	0.29956	N	0.010768	T	0.44329	0.1288	M	0.86573	2.825	0.09310	N	1	P	0.49307	0.922	P	0.52554	0.702	T	0.39663	-0.9603	10	0.66056	D	0.02	-25.277	9.7412	0.40420	0.2057:0.7942:0.0:0.0	.	114	Q8NE28	SGK71_HUMAN	R	114	ENSP00000398807:S114R;ENSP00000361025:S114R	ENSP00000361025:S114R	S	+	3	2	C9orf96	135243099	0.886000	0.30341	0.231000	0.23993	0.136000	0.21042	2.323000	0.43823	0.867000	0.35654	0.561000	0.74099	AGC		0.567	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1			20	63	1	0	5.5e-05	6.56e-05	20	63				
IRAK1	3654	broad.mit.edu	37	X	153278841	153278841	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chrX:153278841A>C	ENST00000369980.3	-	12	1750	c.1583T>G	c.(1582-1584)gTg>gGg	p.V528G	IRAK1_ENST00000369974.2_Missense_Mutation_p.V449G|IRAK1_ENST00000393682.1_Intron|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000429936.2_Intron|IRAK1_ENST00000393687.2_Intron	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	528					activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGCCCGGGCACCCCCGCCAC	0.662																																						uc004fjs.1		NA																	0				lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9						c.(1582-1584)GTG>GGG		interleukin-1 receptor-associated kinase 1							18.0	22.0	20.0					X																	153278841		2166	4204	6370	SO:0001583	missense	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153278841A>C	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1583T>G	X.37:g.153278841A>C	ENSP00000358997:p.Val528Gly					IRAK1_uc004fjr.1_Intron|IRAK1_uc004fjt.1_Missense_Mutation_p.V449G|IRAK1_uc010nur.2_Intron	p.V528G	NM_001569	NP_001560	P51617	IRAK1_HUMAN			12	1662	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		528					D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	c.1583T>G	CCDS14740.1	.	.	.	.	.	.	.	.	.	.	A	12.70	2.015746	0.35606	.	.	ENSG00000184216	ENST00000369980;ENST00000369974	T;T	0.74526	-0.76;-0.85	5.42	-0.729	0.11158	Protein kinase-like domain (1);	1.124520	0.06892	N	0.804342	T	0.49184	0.1542	N	0.08118	0	0.09310	N	0.999999	B;B	0.14438	0.009;0.01	B;B	0.13407	0.009;0.009	T	0.28299	-1.0048	10	0.20046	T	0.44	-0.9717	4.1156	0.10079	0.4702:0.0:0.3677:0.1621	.	449;528	P51617-4;P51617	.;IRAK1_HUMAN	G	528;449	ENSP00000358997:V528G;ENSP00000358991:V449G	ENSP00000358991:V449G	V	-	2	0	IRAK1	152932035	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.018000	0.13422	0.032000	0.15435	0.486000	0.48141	GTG		0.662	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			6	21	0	0	0	0	6	21				
WDTC1	23038	broad.mit.edu	37	1	27614251	27614252	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr1:27614251_27614252insAT	ENST00000319394.3	+	6	913_914	c.378_379insAT	c.(379-381)atcfs	p.I127fs	WDTC1_ENST00000361771.3_Frame_Shift_Ins_p.I127fs	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	127					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		TAAAGGAGACCATCCACATGTT	0.564																																						uc009vst.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(376-381)ACCATCfs		WD and tetratricopeptide repeats 1																																				SO:0001589	frameshift_variant	23038						protein binding	g.chr1:27614251_27614252insAT	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.379_380dupAT	1.37:g.27614252_27614253dupAT	ENSP00000317971:p.Ile127fs					WDTC1_uc001bno.2_Frame_Shift_Ins_p.T126fs|WDTC1_uc001bnp.1_RNA	p.T126fs	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)	6	913_914	+		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	126_127			WD 2.		D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Frame_Shift_Ins	INS	ENST00000319394.3	37	c.378_379insAT																																																																																					0.564	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023		11	21	NA	NA	NA	NA	11	21	---	---	---	---
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-	rs372337364	byFrequency	TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gagaag>gag	p.K853del	SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.K905del	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	853	Arg/Ser-rich (RS domain).|Poly-Lys.				mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606														3	0.000599042	0.0	0.0	5008	,	,		16291	0.002		0.001	False		,,,				2504	0.0					uc001uja.1		NA																	0					0						c.(2545-2550)GAGAAG>GAG		splicing factor, arginine/serine-rich 8				79,4057		6,67,1995						5.3	1.0			83	146,7912		14,118,3897	no	coding	SFSWAP	NM_004592.2		20,185,5892	A1A1,A1R,RR		1.8119,1.9101,1.8452				225,11969				SO:0001651	inframe_deletion	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132281734_132281736delAGA	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2546_2548delAGA	12.37:g.132281743_132281745delAGA	ENSP00000261674:p.Lys853del					SFRS8_uc010tbn.1_In_Frame_Del_p.K905del	p.K853del	NM_004592	NP_004583	Q12872	SFSWA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)	16	2686_2688	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		853			Poly-Lys.|Arg/Ser-rich (RS domain).		B2RN45|B7ZM97|F5H6B8|Q6PJF7	In_Frame_Del	DEL	ENST00000261674.4	37	c.2546_2548delAGA	CCDS9273.1																																																																																				0.606	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		7	238	NA	NA	NA	NA	7	238	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30749849	30749850	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr16:30749849_30749850insA	ENST00000262518.4	+	34	8873_8874	c.8488_8489insA	c.(8488-8490)cacfs	p.H2830fs	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.H2768fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.H2672fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2830	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGCTCGCCGTCACATTGAGCTG	0.644																																						uc002dze.1		NA																	0				ovary(3)|skin(1)	4						c.(8488-8490)CACfs		Snf2-related CBP activator protein																																				SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30749849_30749850insA	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8489dupA	16.37:g.30749850_30749850dupA	ENSP00000262518:p.His2830fs					SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Frame_Shift_Ins_p.H2625fs	p.H2830fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	8873_8874	+			2830			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Ins	INS	ENST00000262518.4	37	c.8488_8489insA	CCDS10689.2																																																																																				0.644	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		18	84	NA	NA	NA	NA	18	84	---	---	---	---
KSR1	8844	broad.mit.edu	37	17	25936285	25936286	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:25936285_25936286delTA	ENST00000319524.6	+	17	2221_2222	c.2221_2222delTA	c.(2221-2223)tatfs	p.Y741fs	KSR1_ENST00000398988.3_Frame_Shift_Del_p.Y604fs|KSR1_ENST00000268763.6_Frame_Shift_Del_p.Y604fs|KSR1_ENST00000582410.1_5'Flank|KSR1_ENST00000509603.2_Frame_Shift_Del_p.Y719fs			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	741	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GAACGTCTTCTATGACAACGGC	0.525																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	uc010crg.2		NA																	0				lung(3)|central_nervous_system(1)	4						c.(1810-1812)TATfs		kinase suppressor of ras																																				SO:0001589	frameshift_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25936285_25936286delTA	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.2221_2222delTA	17.37:g.25936285_25936286delTA	ENSP00000323178:p.Tyr741fs					KSR1_uc002gzm.2_Frame_Shift_Del_p.Y383fs|KSR1_uc002gzn.2_5'Flank	p.Y604fs	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	17	2255_2256	+	Lung NSC(42;0.00836)		739			Protein kinase.		F8WEA9|H7BYU0|Q13476	Frame_Shift_Del	DEL	ENST00000319524.6	37	c.1810_1811delTA																																																																																					0.525	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		38	114	NA	NA	NA	NA	38	114	---	---	---	---
NUFIP2	57532	broad.mit.edu	37	17	27613086	27613087	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr17:27613086_27613087delTC	ENST00000225388.4	-	2	1983_1984	c.1925_1926delGA	c.(1924-1926)agafs	p.R642fs	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	642						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CTCTCTGGTATCTCTGTTCTTT	0.426																																						uc002hdy.3		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(1924-1926)AGAfs		nuclear fragile X mental retardation protein																																				SO:0001589	frameshift_variant	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27613086_27613087delTC	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.1925_1926delGA	17.37:g.27613088_27613089delTC	ENSP00000225388:p.Arg642fs					NUFIP2_uc002hdx.3_Intron	p.R642fs	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		2	2014_2015	-			642					A1L3A6|Q9P2M5	Frame_Shift_Del	DEL	ENST00000225388.4	37	c.1925_1926delGA	CCDS32600.1																																																																																				0.426	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		9	39	NA	NA	NA	NA	9	39	---	---	---	---
IRF2BP1	26145	broad.mit.edu	37	19	46388435	46388436	+	Frame_Shift_Del	DEL	TC	TC	-	rs545000475	byFrequency	TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:46388435_46388436delTC	ENST00000302165.3	-	1	940_941	c.597_598delGA	c.(595-600)gagaagfs	p.K200fs		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	200					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)			cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CTCTGCTGCTTCTCTTTCTCGA	0.644																																						uc002pds.1		NA																	0					0						c.(595-600)GAGAAGfs		interferon regulatory factor 2 binding protein																																				SO:0001589	frameshift_variant	26145				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:46388435_46388436delTC	AY278022	CCDS12678.1	19q13.32	2008-02-05							21728	protein-coding gene	gene with protein product		615331				12799427	Standard	NM_015649		Approved	DKFZP434M154, IRF-2BP1	uc002pds.1	Q8IU81		ENST00000302165.3:c.597_598delGA	19.37:g.46388437_46388438delTC	ENSP00000307265:p.Lys200fs						p.E199fs	NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)	1	941_942	-		all_neural(266;0.113)|Ovarian(192;0.127)	199_200			Potential.		Q53EL7|Q6DC95|Q9BRZ9|Q9Y4P4	Frame_Shift_Del	DEL	ENST00000302165.3	37	c.597_598delGA	CCDS12678.1																																																																																				0.644	IRF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461683.1	NM_015649		55	158	NA	NA	NA	NA	55	158	---	---	---	---
KLK4	9622	broad.mit.edu	37	19	51413946	51413946	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr19:51413946delG	ENST00000324041.1	-	1	48	c.49delC	c.(49-51)cttfs	p.L17fs	KLK4_ENST00000431178.2_5'Flank	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	17					amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GCGACACCAAGGATGAGGTAC	0.552																																						uc002pua.1		NA																	0					0						c.(49-51)CTTfs		kallikrein-related peptidase 4 preproprotein							222.0	141.0	168.0					19																	51413946		2186	4258	6444	SO:0001589	frameshift_variant	9622				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr19:51413946delG	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.49delC	19.37:g.51413946delG	ENSP00000326159:p.Leu17fs					KLK4_uc002pty.1_5'Flank|KLK4_uc002ptz.1_5'Flank|KLK4_uc002pub.1_5'UTR|KLK4_uc002puc.1_RNA|KLK4_uc010eoi.1_5'Flank|KLK4_uc002pud.1_5'Flank	p.L17fs	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)	1	49	-		all_neural(266;0.026)	17					Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Frame_Shift_Del	DEL	ENST00000324041.1	37	c.49delC	CCDS12809.1																																																																																				0.552	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917		2	4	NA	NA	NA	NA	2	4	---	---	---	---
NINL	22981	broad.mit.edu	37	20	25460831	25460831	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr20:25460831delT	ENST00000278886.6	-	15	1956	c.1883delA	c.(1882-1884)catfs	p.H628fs	NINL_ENST00000422516.1_Frame_Shift_Del_p.H628fs	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	628					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GTCTTGGTAATGCTCCTTTAC	0.532																																						uc002wux.1		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1882-1884)CATfs		ninein-like							172.0	147.0	155.0					20																	25460831		2203	4300	6503	SO:0001589	frameshift_variant	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25460831delT		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1883delA	20.37:g.25460831delT	ENSP00000278886:p.His628fs					NINL_uc010gdn.1_Frame_Shift_Del_p.H628fs|NINL_uc010gdo.1_Frame_Shift_Del_p.H411fs	p.H628fs	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			15	1957	-			628			Potential.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Frame_Shift_Del	DEL	ENST00000278886.6	37	c.1883delA	CCDS33452.1																																																																																				0.532	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		16	44	NA	NA	NA	NA	16	44	---	---	---	---
CDKL2	8999	broad.mit.edu	37	4	76539580	76539580	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:76539580delT	ENST00000429927.2	-	3	925	c.222delA	c.(220-222)aaafs	p.K74fs	CDKL2_ENST00000307465.4_Frame_Shift_Del_p.K74fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	74	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GGTACCATCGTTTTTTTTTCT	0.323																																						uc003hiq.2		NA																	0				ovary(2)|stomach(2)|breast(2)|skin(1)	7						c.(220-222)AAAfs		cyclin-dependent kinase-like 2							98.0	104.0	102.0					4																	76539580		2202	4300	6502	SO:0001589	frameshift_variant	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76539580delT	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.222delA	4.37:g.76539580delT	ENSP00000412365:p.Lys74fs					CDKL2_uc011cbp.1_Frame_Shift_Del_p.K74fs|CDKL2_uc010iix.1_Intron	p.K74fs	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		3	747	-			74			Protein kinase.		B2R695	Frame_Shift_Del	DEL	ENST00000429927.2	37	c.222delA	CCDS3570.1																																																																																				0.323	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		14	34	NA	NA	NA	NA	14	34	---	---	---	---
HNRNPD	3184	broad.mit.edu	37	4	83280734	83280735	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr4:83280734_83280735insC	ENST00000313899.7	-	3	625_626	c.348_349insG	c.(346-351)tactttfs	p.F117fs	HNRNPD_ENST00000353341.4_Frame_Shift_Ins_p.F117fs|HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000352301.4_Frame_Shift_Ins_p.F98fs|HNRNPD_ENST00000543098.1_Frame_Shift_Ins_p.F65fs	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	117	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						AATTTGGAAAAGTAGTCCTTCA	0.376																																						uc003hmm.1		NA																	0					0						c.(346-351)TACTTTfs		heterogeneous nuclear ribonucleoprotein D																																				SO:0001589	frameshift_variant	3184				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding	g.chr4:83280734_83280735insC	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.348_349insG	4.37:g.83280734_83280735insC	ENSP00000313199:p.Phe117fs					HNRNPD_uc003hml.1_RNA|HNRNPD_uc003hmn.1_Frame_Shift_Ins_p.Y97fs|HNRNPD_uc003hmo.1_Frame_Shift_Ins_p.Y116fs|HNRNPD_uc003hmp.1_Frame_Shift_Ins_p.Y97fs|HNRNPD_uc010ijr.1_Frame_Shift_Ins_p.Y97fs|HNRNPD_uc011cci.1_Intron	p.Y116fs	NM_031370	NP_112738	Q14103	HNRPD_HUMAN			3	666_667	-			116_117			RRM 1.		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Frame_Shift_Ins	INS	ENST00000313899.7	37	c.348_349insG	CCDS3592.1																																																																																				0.376	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		31	55	NA	NA	NA	NA	31	55	---	---	---	---
NR2E1	7101	broad.mit.edu	37	6	108508599	108508599	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7183-01A-11D-2012-08	TCGA-CV-7183-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	172e7b30-829e-40b2-976e-4971cd1724a9	207e1907-6829-4ac9-8e37-606e14db40a3	g.chr6:108508599delA	ENST00000368986.4	+	9	1798	c.1090delA	c.(1090-1092)aaafs	p.K365fs	NR2E1_ENST00000368983.3_Frame_Shift_Del_p.K402fs	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	365	Required for transcriptional repression. {ECO:0000250}.				aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	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)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		AGTGTTTTTCAAAAAAACCAT	0.408																																						uc003psg.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1090-1092)AAAfs		nuclear receptor subfamily 2, group E, member 1							162.0	157.0	159.0					6																	108508599		2203	4300	6503	SO:0001589	frameshift_variant	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108508599delA	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.1090delA	6.37:g.108508599delA	ENSP00000357982:p.Lys365fs						p.K364fs	NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	9	1845	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	364			Required for transcriptional repression (By similarity).		Q6ZMP8	Frame_Shift_Del	DEL	ENST00000368986.4	37	c.1090delA	CCDS5063.1																																																																																				0.408	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			45	137	NA	NA	NA	NA	45	137	---	---	---	---
