#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_ACHILLES_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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
Unknown	0	broad.mit.edu	37	1	13183549	13183549	+	IGR	SNP	A	A	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr1:13183549A>C								RP13-221M14.3 (19081 upstream) : PRAMEF26 (32806 downstream)																							CCAAGTCAAAAGAGGAGCCGT	0.512																																							uc010obg.1		NA																	0					0						c.(322-324)TCT>TCG		heterogeneous nuclear ribonucleoprotein C-like							99.0	78.0	84.0					1																	13183549		692	1591	2283	SO:0001628	intergenic_variant	440563					ribonucleoprotein complex	nucleic acid binding|nucleotide binding	g.chr1:13183549A>C																													1.37:g.13183549A>C							p.S108S	NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN			1	419	-			108						Silent	SNP		37	c.324T>G																																																																																				0	0.512									28	67	0	0	0	0.054565	0	28	67				
ANKRD34A	284615	broad.mit.edu	37	1	145473962	145473962	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr1:145473962G>T	ENST00000323397.4	+	4	1927	c.634G>T	c.(634-636)Gac>Tac	p.D212Y	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	212						cytoplasm (GO:0005737)		p.D212Y(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGAAGCGGGACGTATTTGA	0.602																																							uc001enq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(634-636)GAC>TAC		ankyrin repeat domain 34							67.0	74.0	72.0					1																	145473962		2203	4300	6503	SO:0001583	missense	284615							g.chr1:145473962G>T	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.634G>T	1.37:g.145473962G>T	ENSP00000314103:p.Asp212Tyr					NBPF10_uc001emp.3_Intron	p.D212Y	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN			4	1927	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		212					B3KSU3	Missense_Mutation	SNP	ENST00000323397.4	37	c.634G>T	CCDS30829.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717753	0.48622	.	.	ENSG00000181039	ENST00000323397	T	0.73047	-0.71	4.97	4.97	0.65823	.	0.593958	0.16702	N	0.203082	T	0.48554	0.1506	N	0.08118	0	0.46376	D	0.999015	P	0.46064	0.872	P	0.45881	0.496	T	0.62455	-0.6851	10	0.87932	D	0	-16.3153	15.8172	0.78612	0.0:0.0:1.0:0.0	.	212	Q69YU3	AN34A_HUMAN	Y	212	ENSP00000314103:D212Y	ENSP00000314103:D212Y	D	+	1	0	ANKRD34A	144185319	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.797000	0.55514	2.594000	0.87642	0.585000	0.79938	GAC		0.602	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038512.1			62	136	1	0	1.17004e-41	0.139131	1.72721e-41	62	136				
TCHH	7062	broad.mit.edu	37	1	152082565	152082565	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr1:152082565A>C	ENST00000368804.1	-	2	3127	c.3128T>G	c.(3127-3129)cTc>cGc	p.L1043R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1043	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.L1043R(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGCTCCTGGAGTCTTCTTTT	0.592																																							uc001ezp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(3127-3129)CTC>CGC		trichohyalin							121.0	124.0	123.0					1																	152082565		1956	4131	6087	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082565A>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3128T>G	1.37:g.152082565A>C	ENSP00000357794:p.Leu1043Arg					TCHH_uc009wne.1_Missense_Mutation_p.L1043R	p.L1043R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3128	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1043			10 X 30 AA tandem repeats.|4-5.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3128T>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	5.617	0.298639	0.10622	.	.	ENSG00000159450	ENST00000368804	T	0.05025	3.51	3.32	2.39	0.29439	.	.	.	.	.	T	0.00608	0.0020	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45556	-0.9253	9	0.14252	T	0.57	.	9.3484	0.38122	0.5564:0.4436:0.0:0.0	.	1043	Q07283	TRHY_HUMAN	R	1043	ENSP00000357794:L1043R	ENSP00000357794:L1043R	L	-	2	0	TCHH	150349189	0.000000	0.05858	0.007000	0.13788	0.087000	0.18053	-5.896000	0.00092	-0.005000	0.14395	-2.437000	0.00212	CTC		0.592	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		5	364	0	0	0	0.038147	0	5	364				
INSRR	3645	broad.mit.edu	37	1	156823801	156823801	+	Missense_Mutation	SNP	G	G	A	rs55757706	byFrequency	TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr1:156823801G>A	ENST00000368195.3	-	2	776	c.380C>T	c.(379-381)gCa>gTa	p.A127V	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	127			A -> E (in dbSNP:rs55757706). {ECO:0000269|PubMed:17344846}.		actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A127V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCAGGCAGTGCCACGTCACG	0.627																																							uc010pht.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(379-381)GCA>GTA		insulin receptor-related receptor precursor							55.0	49.0	51.0					1																	156823801		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156823801G>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.380C>T	1.37:g.156823801G>A	ENSP00000357178:p.Ala127Val					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.1_Missense_Mutation_p.A127V	p.A127V	NM_014215	NP_055030	P14616	INSRR_HUMAN			2	634	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		127					O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.380C>T	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009596	0.35415	.	.	ENSG00000027644	ENST00000368195	T	0.29397	1.57	5.06	4.15	0.48705	EGF receptor, L domain (1);	0.134401	0.34156	N	0.004214	T	0.13500	0.0327	.	.	.	0.27781	N	0.943161	B	0.12630	0.006	B	0.22152	0.038	T	0.18713	-1.0328	9	0.87932	D	0	.	13.3367	0.60522	0.0:0.8385:0.1615:0.0	.	127	P14616	INSRR_HUMAN	V	127	ENSP00000357178:A127V	ENSP00000357178:A127V	A	-	2	0	INSRR	155090425	1.000000	0.71417	0.998000	0.56505	0.053000	0.15095	6.094000	0.71431	1.148000	0.42385	-0.241000	0.12123	GCA		0.627	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		13	28	0	0	0	0.11911	0	13	28				
SPTA1	6708	broad.mit.edu	37	1	158627413	158627413	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr1:158627413G>A	ENST00000368147.4	-	19	2839	c.2659C>T	c.(2659-2661)Cga>Tga	p.R887*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	887					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R887*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTAGCAGCTCGAGCACGGAGA	0.473																																							uc001fst.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2659-2661)CGA>TGA		spectrin, alpha, erythrocytic 1							167.0	164.0	165.0					1																	158627413		2002	4185	6187	SO:0001587	stop_gained	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158627413G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2659C>T	1.37:g.158627413G>A	ENSP00000357129:p.Arg887*						p.R887*	NM_003126	NP_003117	P02549	SPTA1_HUMAN			19	2858	-	all_hematologic(112;0.0378)		887			Spectrin 9.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.2659C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	38	6.901218	0.97920	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.53	3.62	0.41486	.	0.000000	0.27563	N	0.018812	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	10.736	0.46126	0.0:0.0:0.5398:0.4602	.	.	.	.	X	887	.	ENSP00000357129:R887X	R	-	1	2	SPTA1	156894037	1.000000	0.71417	0.960000	0.40013	0.111000	0.19643	3.829000	0.55760	1.249000	0.43950	-0.268000	0.10319	CGA		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		43	125	0	0	0	0.131918	0	43	125				
RXRG	6258	broad.mit.edu	37	1	165380300	165380300	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr1:165380300C>A	ENST00000359842.5	-	5	971	c.669G>T	c.(667-669)gaG>gaT	p.E223D	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	223	Hinge.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.E223D(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	CACATTCTGCCTCACTCTCAG	0.502																																							uc001gda.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(667-669)GAG>GAT		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)						168.0	131.0	144.0					1																	165380300		2203	4300	6503	SO:0001583	missense	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165380300C>A	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.669G>T	1.37:g.165380300C>A	ENSP00000352900:p.Glu223Asp						p.E223D	NM_006917	NP_008848	P48443	RXRG_HUMAN			5	969	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		223			Hinge.		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	c.669G>T	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.043526	0.36085	.	.	ENSG00000143171	ENST00000359842	T	0.71817	-0.6	4.53	3.53	0.40419	Zinc finger, NHR/GATA-type (1);Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	L	0.40543	1.245	0.49582	D	0.999801	P	0.41498	0.752	P	0.49922	0.626	T	0.53229	-0.8468	9	0.27082	T	0.32	.	8.0046	0.30317	0.0:0.8381:0.0:0.1619	.	223	P48443	RXRG_HUMAN	D	223	ENSP00000352900:E223D	ENSP00000352900:E223D	E	-	3	2	RXRG	163646924	0.998000	0.40836	0.997000	0.53966	0.843000	0.47879	0.656000	0.24948	2.328000	0.79073	0.563000	0.77884	GAG		0.502	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		40	64	1	0	1.8453e-21	0.117977	2.64019e-21	40	64				
FMO3	2328	broad.mit.edu	37	1	171083304	171083304	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr1:171083304A>G	ENST00000367755.4	+	7	1096	c.985A>G	c.(985-987)Aca>Gca	p.T329A	FMO3_ENST00000542847.1_Missense_Mutation_p.T309A|FMO3_ENST00000392085.2_Missense_Mutation_p.T329A|FMO3_ENST00000538429.1_Missense_Mutation_p.T266A	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	329					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)	p.T329A(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	AATCTTTGCAACAGGGTATAG	0.408																																							uc001ghi.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(985-987)ACA>GCA		flavin containing monooxygenase 3							164.0	151.0	156.0					1																	171083304		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171083304A>G	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.985A>G	1.37:g.171083304A>G	ENSP00000356729:p.Thr329Ala					FMO3_uc001ghh.2_Missense_Mutation_p.T329A|FMO3_uc010pmb.1_Missense_Mutation_p.T309A|FMO3_uc010pmc.1_Missense_Mutation_p.T266A	p.T329A	NM_001002294	NP_001002294	P31513	FMO3_HUMAN			7	1096	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		329					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.985A>G	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.208566	0.58343	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.82958	0.5150	H	0.98951	4.38	0.58432	D	0.999999	D;D;D	0.76494	0.996;0.998;0.999	D;D;D	0.83275	0.928;0.973;0.996	D	0.89902	0.4045	10	0.87932	D	0	-6.7819	14.2104	0.65762	1.0:0.0:0.0:0.0	.	266;309;329	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	A	329;329;309;266	ENSP00000356729:T329A;ENSP00000375935:T329A;ENSP00000444073:T309A;ENSP00000439500:T266A	ENSP00000356729:T329A	T	+	1	0	FMO3	169349928	1.000000	0.71417	0.999000	0.59377	0.291000	0.27294	8.746000	0.91604	1.871000	0.54225	0.528000	0.53228	ACA		0.408	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		33	67	0	0	0	0.086207	0	33	67				
PFKP	5214	broad.mit.edu	37	10	3178698	3178698	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr10:3178698T>C	ENST00000381125.4	+	22	2358	c.2282T>C	c.(2281-2283)cTg>cCg	p.L761P	PITRM1_ENST00000464395.1_5'Flank|PFKP_ENST00000381072.1_Missense_Mutation_p.L179P|PFKP_ENST00000381075.2_Missense_Mutation_p.L753P	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	761	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)	p.L753P(1)|p.L761P(1)		breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		ATGAAAATCCTGGCCAAGTAC	0.587																																							uc001igp.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						c.(2281-2283)CTG>CCG		phosphofructokinase, platelet							58.0	46.0	50.0					10																	3178698		2203	4300	6503	SO:0001583	missense	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3178698T>C	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.2282T>C	10.37:g.3178698T>C	ENSP00000370517:p.Leu761Pro					PFKP_uc001igq.2_Missense_Mutation_p.L753P|PFKP_uc009xhr.2_Missense_Mutation_p.L723P|PFKP_uc009xht.2_Missense_Mutation_p.L499P|PFKP_uc009xhu.2_Missense_Mutation_p.L267P	p.L761P	NM_002627	NP_002618	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	22	2318	+			761					B3KS15|Q5VSR7|Q5VSR8	Missense_Mutation	SNP	ENST00000381125.4	37	c.2282T>C	CCDS7059.1	.	.	.	.	.	.	.	.	.	.	t	21.9	4.213506	0.79352	.	.	ENSG00000067057	ENST00000381125;ENST00000397834;ENST00000381075;ENST00000381072	D;D;D	0.82433	-1.61;-1.61;-1.61	5.14	5.14	0.70334	Phosphofructokinase domain (1);	0.000000	0.64402	D	0.000003	D	0.92430	0.7597	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.995	D	0.93992	0.7268	10	0.87932	D	0	.	14.984	0.71332	0.0:0.0:0.0:1.0	.	753;753;761	B3KS15;Q5VSR7;Q01813	.;.;K6PP_HUMAN	P	761;750;753;179	ENSP00000370517:L761P;ENSP00000370465:L753P;ENSP00000370462:L179P	ENSP00000370462:L179P	L	+	2	0	PFKP	3168698	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.703000	0.84585	1.942000	0.56320	0.379000	0.24179	CTG		0.587	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	NM_002627		13	26	0	0	0	0.11911	0	13	26				
OR4B1	119765	broad.mit.edu	37	11	48238768	48238768	+	Missense_Mutation	SNP	G	G	A	rs149306992	byFrequency	TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr11:48238768G>A	ENST00000309562.2	+	1	425	c.407G>A	c.(406-408)cGt>cAt	p.R136H		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R136H(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ATTATCAGTCGTCAACTGTGT	0.473													g|||	2	0.000399361	0.0008	0.0	5008	,	,		21209	0.0		0.0	False		,,,				2504	0.001						uc010rhs.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(406-408)CGT>CAT		olfactory receptor, family 4, subfamily B,		G	HIS/ARG	0,4402		0,0,2201	105.0	101.0	102.0		407	2.5	0.2	11	dbSNP_134	102	1,8595	2.2+/-6.3	0,1,4297	yes	missense	OR4B1	NM_001005470.1	29	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	136/310	48238768	1,12997	2201	4298	6499	SO:0001583	missense	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48238768G>A	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.407G>A	11.37:g.48238768G>A	ENSP00000311605:p.Arg136His						p.R136H	NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN			1	407	+			136			Cytoplasmic (Potential).		Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	c.407G>A	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495830	0.26774	0.0	1.16E-4	ENSG00000175619	ENST00000309562	T	0.25250	1.81	5.38	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	0.116985	0.39083	N	0.001476	T	0.21631	0.0521	L	0.49256	1.55	0.09310	N	1	B	0.13594	0.008	B	0.13407	0.009	T	0.16988	-1.0384	10	0.44086	T	0.13	.	8.4267	0.32733	0.2566:0.0:0.7434:0.0	.	136	Q8NGF8	OR4B1_HUMAN	H	136	ENSP00000311605:R136H	ENSP00000311605:R136H	R	+	2	0	OR4B1	48195344	0.000000	0.05858	0.192000	0.23308	0.884000	0.51177	-1.885000	0.01620	0.646000	0.30693	0.494000	0.49563	CGT		0.473	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		37	76	0	0	0	0.080422	0	37	76				
OR4A16	81327	broad.mit.edu	37	11	55110931	55110931	+	Silent	SNP	T	T	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr11:55110931T>C	ENST00000314721.2	+	1	305	c.255T>C	c.(253-255)tgT>tgC	p.C85C		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C85C(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ACTTACTCTGTGATAAAATCG	0.448																																							uc010rie.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(253-255)TGT>TGC		olfactory receptor, family 4, subfamily A,							203.0	184.0	190.0					11																	55110931		2201	4296	6497	SO:0001819	synonymous_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110931T>C	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.255T>C	11.37:g.55110931T>C							p.C85C	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	255	+			85			Extracellular (Potential).		Q6IFL3	Silent	SNP	ENST00000314721.2	37	c.255T>C	CCDS31499.1																																																																																				0.448	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		14	214	0	0	0	0.132662	0	14	214				
PCNXL3	399909	broad.mit.edu	37	11	65403699	65403699	+	Silent	SNP	A	A	G			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr11:65403699A>G	ENST00000355703.3	+	33	6053	c.5514A>G	c.(5512-5514)tcA>tcG	p.S1838S	SIPA1_ENST00000534313.1_5'Flank|MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1838	Gly-rich.					integral component of membrane (GO:0016021)		p.S1838S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGGATGATTCAGACTGTAGTG	0.637																																							uc001oey.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(5512-5514)TCA>TCG		pecanex-like 3							35.0	41.0	39.0					11																	65403699		2057	4166	6223	SO:0001819	synonymous_variant	399909					integral to membrane		g.chr11:65403699A>G	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5514A>G	11.37:g.65403699A>G						PCNXL3_uc001oez.2_Silent_p.S725S	p.S1838S	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			33	5514	+			1838			Gly-rich.		Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.5514A>G	CCDS44650.1																																																																																				0.637	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		2	10	0	0	0	0.115264	0	2	10				
EXPH5	23086	broad.mit.edu	37	11	108384669	108384669	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr11:108384669C>T	ENST00000265843.4	-	6	1675	c.1565G>A	c.(1564-1566)gGc>gAc	p.G522D	EXPH5_ENST00000525344.1_Missense_Mutation_p.G515D|EXPH5_ENST00000428840.1_Missense_Mutation_p.G446D|EXPH5_ENST00000443411.1_Missense_Mutation_p.G334D|EXPH5_ENST00000524840.1_5'UTR	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	522					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.G522D(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AACATTATGGCCATGAATGGC	0.403																																							uc001pkk.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(1564-1566)GGC>GAC		exophilin 5 isoform a							67.0	67.0	67.0					11																	108384669		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108384669C>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.1565G>A	11.37:g.108384669C>T	ENSP00000265843:p.Gly522Asp					EXPH5_uc010rvy.1_Missense_Mutation_p.G334D|EXPH5_uc010rvz.1_Missense_Mutation_p.G366D|EXPH5_uc010rwa.1_Missense_Mutation_p.G446D	p.G522D	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	1676	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	522					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.1565G>A	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	2.570	-0.299858	0.05532	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000439956;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.03772	4.39;4.32;4.17;4.39;4.25;3.81	5.82	1.61	0.23674	.	0.824402	0.10916	N	0.620067	T	0.03348	0.0097	L	0.31294	0.92	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.45086	-0.9285	10	0.30078	T	0.28	0.5047	1.5552	0.02583	0.1466:0.4644:0.1424:0.2466	.	522	Q8NEV8	EXPH5_HUMAN	D	522;446;334;515;366;446;334	ENSP00000265843:G522D;ENSP00000391966:G446D;ENSP00000411390:G334D;ENSP00000432546:G515D;ENSP00000432683:G446D;ENSP00000446434:G334D	ENSP00000265843:G522D	G	-	2	0	EXPH5	107889879	0.000000	0.05858	0.002000	0.10522	0.029000	0.11900	0.027000	0.13621	0.808000	0.34231	0.467000	0.42956	GGC		0.403	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		39	58	0	0	0	0.092188	0	39	58				
PABPC3	5042	broad.mit.edu	37	13	25671090	25671090	+	Missense_Mutation	SNP	A	A	G	rs200416454		TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr13:25671090A>G	ENST00000281589.3	+	1	791	c.754A>G	c.(754-756)Aat>Gat	p.N252D		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	252	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.N252D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGATGAGATGAATGGAAAGGA	0.403																																							uc001upy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(754-756)AAT>GAT		poly(A) binding protein, cytoplasmic 3							124.0	111.0	115.0					13																	25671090		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671090A>G	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.754A>G	13.37:g.25671090A>G	ENSP00000281589:p.Asn252Asp						p.N252D	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	815	+		Lung SC(185;0.0225)|Breast(139;0.0602)	252			RRM 3.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.754A>G	CCDS9311.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	A	12.95	2.090132	0.36855	.	.	ENSG00000151846	ENST00000281589	T	0.08102	3.13	0.875	0.875	0.19130	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.49916	U	0.000124	T	0.14830	0.0358	L	0.42744	1.35	0.48395	D	0.999643	D	0.67145	0.996	D	0.67103	0.949	T	0.02385	-1.1167	10	0.66056	D	0.02	.	5.8995	0.18957	1.0:0.0:0.0:0.0	.	252	Q9H361	PABP3_HUMAN	D	252	ENSP00000281589:N252D	ENSP00000281589:N252D	N	+	1	0	PABPC3	24569090	1.000000	0.71417	0.962000	0.40283	0.289000	0.27227	6.258000	0.72487	0.632000	0.30432	0.260000	0.18958	AAT		0.403	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		56	60	0	0	0	0.139131	0	56	60				
PCDH17	27253	broad.mit.edu	37	13	58208287	58208287	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr13:58208287C>A	ENST00000377918.3	+	1	1633	c.1607C>A	c.(1606-1608)gCc>gAc	p.A536D		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	536	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)	p.A536D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCCATCTACGCCCTGCGCTCC	0.582																																					Melanoma(72;952 1291 1619 12849 33676)	Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(1606-1608)GCC>GAC		protocadherin 17 precursor							51.0	50.0	50.0					13																	58208287		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208287C>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1607C>A	13.37:g.58208287C>A	ENSP00000367151:p.Ala536Asp					PCDH17_uc010aec.1_Missense_Mutation_p.A536D	p.A536D	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2499	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	536			Extracellular (Potential).|Cadherin 5.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1607C>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.873330	0.72180	.	.	ENSG00000118946	ENST00000377918	T	0.52983	0.64	5.88	5.88	0.94601	Cadherin (5);Cadherin-like (1);	0.043824	0.85682	D	0.000000	T	0.79203	0.4406	H	0.94847	3.59	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.972;0.995	D	0.84122	0.0407	9	.	.	.	.	20.2405	0.98372	0.0:1.0:0.0:0.0	.	536;536	O14917-2;O14917	.;PCD17_HUMAN	D	536	ENSP00000367151:A536D	.	A	+	2	0	PCDH17	57106288	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	7.818000	0.86416	2.797000	0.96272	0.561000	0.74099	GCC		0.582	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		22	84	1	0	1.50538e-07	0.116897	2.02899e-07	22	84				
VIPAS39	63894	broad.mit.edu	37	14	77895357	77895357	+	Missense_Mutation	SNP	C	C	T	rs199989629		TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr14:77895357C>T	ENST00000553888.1	-	18	1858	c.1348G>A	c.(1348-1350)Gtc>Atc	p.V450I	VIPAS39_ENST00000557658.1_Missense_Mutation_p.V450I|VIPAS39_ENST00000448935.2_Missense_Mutation_p.V401I|VIPAS39_ENST00000556412.1_Missense_Mutation_p.V476I|VIPAS39_ENST00000327028.4_Missense_Mutation_p.V437I|VIPAS39_ENST00000343765.2_Missense_Mutation_p.V450I	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	450					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)		p.V450I(1)									ACATCAATGACGACATCATGG	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		22416	0.001		0.0	False		,,,				2504	0.0						uc001xtt.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1348-1350)GTC>ATC		hypothetical protein LOC63894							148.0	119.0	129.0					14																	77895357		2203	4300	6503	SO:0001583	missense	63894				endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding	g.chr14:77895357C>T	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.1348G>A	14.37:g.77895357C>T	ENSP00000452181:p.Val450Ile					VIPAR_uc001xtu.1_Missense_Mutation_p.V450I|VIPAR_uc010tvj.1_Missense_Mutation_p.V401I|VIPAR_uc001xtv.1_Missense_Mutation_p.V450I	p.V450I	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN			19	1686	-			450					B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	c.1348G>A	CCDS9862.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.05	3.537731	0.65085	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.54	5.54	0.83059	.	0.110164	0.64402	D	0.000007	T	0.35537	0.0935	L	0.37507	1.11	0.80722	D	1	B;P	0.49358	0.233;0.923	B;B	0.38842	0.032;0.283	T	0.18935	-1.0321	10	0.45353	T	0.12	-17.6308	18.2398	0.89963	0.0:1.0:0.0:0.0	.	401;450	B4DPI6;Q9H9C1	.;VIPAR_HUMAN	I	450;450;437;450;401;476	ENSP00000339122:V450I;ENSP00000452181:V450I;ENSP00000313098:V437I;ENSP00000452191:V450I;ENSP00000404815:V401I;ENSP00000451857:V476I	ENSP00000313098:V437I	V	-	1	0	VIPAR	76965110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.407000	0.59754	2.592000	0.87571	0.655000	0.94253	GTC		0.468	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		29	80	0	0	0	0.064281	0	29	80				
UNC13C	440279	broad.mit.edu	37	15	54825193	54825193	+	Silent	SNP	A	A	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr15:54825193A>T	ENST00000260323.11	+	25	5625	c.5625A>T	c.(5623-5625)acA>acT	p.T1875T	UNC13C_ENST00000545554.1_Silent_p.T1875T|UNC13C_ENST00000537900.1_Silent_p.T1873T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1875					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.T1875T(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAACACCACATCTAATAAGA	0.308																																							uc002ack.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(5623-5625)ACA>ACT		unc-13 homolog C							81.0	82.0	81.0					15																	54825193		1825	4089	5914	SO:0001819	synonymous_variant	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54825193A>T	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5625A>T	15.37:g.54825193A>T							p.T1875T	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	24	5625	+			1875					Q0P613|Q8ND48|Q96NP3	Silent	SNP	ENST00000260323.11	37	c.5625A>T	CCDS45264.1																																																																																				0.308	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		5	5	0	0	0	0.02938	0	5	5				
CCPG1	9236	broad.mit.edu	37	15	55652008	55652008	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr15:55652008C>T	ENST00000310958.6	-	8	2261	c.1963G>A	c.(1963-1965)Gaa>Aaa	p.E655K	CCPG1_ENST00000425574.3_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Missense_Mutation_p.E655K|CCPG1_ENST00000442196.3_Missense_Mutation_p.E655K	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	655					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)		p.E655K(1)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TGTCTAAATTCATCCATCCTT	0.358																																							uc002acv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1963-1965)GAA>AAA		cell cycle progression 1 isoform 2							67.0	62.0	63.0					15																	55652008		1840	4081	5921	SO:0001583	missense	9236				cell cycle	integral to membrane		g.chr15:55652008C>T	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.1963G>A	15.37:g.55652008C>T	ENSP00000311656:p.Glu655Lys					CCPG1_uc002acy.2_Missense_Mutation_p.E655K|CCPG1_uc002acu.1_Missense_Mutation_p.E511K|CCPG1_uc002acw.1_Missense_Mutation_p.E380K|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Missense_Mutation_p.E655K|CCPG1_uc002acz.1_Missense_Mutation_p.E655K	p.E655K	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	8	2128	-			655			Lumenal (Potential).		A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	ENST00000310958.6	37	c.1963G>A	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340957	0.60963	.	.	ENSG00000256061	ENST00000310958;ENST00000442196	T;T	0.06768	3.27;3.26	5.62	5.62	0.85841	.	0.044194	0.85682	D	0.000000	T	0.22282	0.0537	L	0.59436	1.845	0.80722	D	1	D;D;D	0.55385	0.971;0.971;0.971	P;P;P	0.55749	0.783;0.783;0.654	T	0.00045	-1.2216	10	0.72032	D	0.01	.	18.6399	0.91392	0.0:1.0:0.0:0.0	.	655;655;511	A8K9T0;Q9ULG6;Q9ULG6-2	.;CCPG1_HUMAN;.	K	655	ENSP00000311656:E655K;ENSP00000403400:E655K	ENSP00000311656:E655K	E	-	1	0	DYX1C1	53439300	1.000000	0.71417	0.967000	0.41034	0.718000	0.41266	7.395000	0.79876	2.662000	0.90505	0.655000	0.94253	GAA		0.358	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	NM_004748		6	51	0	0	0	0.02938	0	6	51				
CREBBP	1387	broad.mit.edu	37	16	3779782	3779782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr16:3779782G>A	ENST00000262367.5	-	31	6075	c.5266C>T	c.(5266-5268)Cag>Tag	p.Q1756*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q1718*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1756	Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Q1756*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGCTCGCCCTGGCTGCTGCCC	0.622			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																uc002cvv.2		NA		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - Nonsense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(5266-5268)CAG>TAG		CREB binding protein isoform a							31.0	31.0	31.0					16																	3779782		2197	4299	6496	SO:0001587	stop_gained	1387	Rubinstein-Taybsyndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3779782G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5266C>T	16.37:g.3779782G>A	ENSP00000262367:p.Gln1756*					CREBBP_uc002cvw.2_Nonsense_Mutation_p.Q1718*	p.Q1756*	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	5470	-		Ovarian(90;0.0266)	1756			Interaction with TRERF1.		D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	c.5266C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	50	16.212811	0.99857	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	.	.	.	5.35	5.35	0.76521	.	0.077808	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-7.0821	19.0688	0.93123	0.0:0.0:1.0:0.0	.	.	.	.	X	1756;1786;1718;291	.	ENSP00000262367:Q1756X	Q	-	1	0	CREBBP	3719783	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.787000	0.99055	2.513000	0.84729	0.591000	0.81541	CAG		0.622	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		13	18	0	0	0	0.0333	0	13	18				
USP7	7874	broad.mit.edu	37	16	9009171	9009171	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr16:9009171G>A	ENST00000344836.4	-	10	1216	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	USP7_ENST00000535863.1_Missense_Mutation_p.R241W|USP7_ENST00000381886.4_Missense_Mutation_p.R324W	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	340	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R340W(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTATCAGACCGATAGTCTACT	0.303																																							uc002czl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1018-1020)CGG>TGG		ubiquitin specific peptidase 7							142.0	137.0	139.0					16																	9009171		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:9009171G>A	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1018C>T	16.37:g.9009171G>A	ENSP00000343535:p.Arg340Trp					USP7_uc010uyk.1_Missense_Mutation_p.R241W|USP7_uc010uyj.1_Missense_Mutation_p.R241W|USP7_uc002czk.2_Missense_Mutation_p.R324W|USP7_uc010uyl.1_RNA	p.R340W	NM_003470	NP_003461	Q93009	UBP7_HUMAN			10	1217	-			340					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.1018C>T	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296576	0.81025	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.32272	1.46;1.46;1.46	5.49	5.49	0.81192	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	M	0.68317	2.08	0.80722	D	1	D;D	0.69078	0.995;0.997	P;P	0.44696	0.458;0.458	T	0.45687	-0.9244	10	0.87932	D	0	.	19.745	0.96248	0.0:0.0:1.0:0.0	.	340;324	Q93009;B7Z815	UBP7_HUMAN;.	W	340;348;241;241;282	ENSP00000343535:R340W;ENSP00000443646:R241W;ENSP00000439272:R282W	ENSP00000343535:R340W	R	-	1	2	USP7	8916672	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	5.299000	0.65716	2.736000	0.93811	0.655000	0.94253	CGG		0.303	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			36	75	0	0	0	0.080422	0	36	75				
GSE1	23199	broad.mit.edu	37	16	85699584	85699584	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr16:85699584C>T	ENST00000253458.7	+	13	2937	c.2761C>T	c.(2761-2763)Cca>Tca	p.P921S	GSE1_ENST00000393243.1_Missense_Mutation_p.P848S|GSE1_ENST00000405402.2_Missense_Mutation_p.P817S	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	921								p.P921S(1)									TCTAAAAGAACCAGCCACGCA	0.498																																							uc002fix.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(1)|skin(1)	5						c.(2761-2763)CCA>TCA		genetic suppressor element 1 isoform 1							40.0	45.0	44.0					16																	85699584		2198	4300	6498	SO:0001583	missense	23199						protein binding	g.chr16:85699584C>T	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.2761C>T	16.37:g.85699584C>T	ENSP00000253458:p.Pro921Ser					KIAA0182_uc002fiw.2_Missense_Mutation_p.P817S|KIAA0182_uc002fiy.2_Missense_Mutation_p.P848S|KIAA0182_uc002fiz.2_Missense_Mutation_p.P63S|KIAA0182_uc010cho.2_Missense_Mutation_p.P101S	p.P921S	NM_014615	NP_055430	Q14687	GSE1_HUMAN			13	2835	+			921					D3DUM4|Q8IY61|Q96GA4|Q9BW09	Missense_Mutation	SNP	ENST00000253458.7	37	c.2761C>T	CCDS10952.1	.	.	.	.	.	.	.	.	.	.	C	6.840	0.524219	0.13066	.	.	ENSG00000131149	ENST00000405402;ENST00000253458;ENST00000393243	T;T;T	0.33654	1.4;1.42;1.41	5.52	2.4	0.29515	.	0.388717	0.29198	N	0.012843	T	0.19765	0.0475	N	0.14661	0.345	0.34534	D	0.709559	B;B;B;B	0.31227	0.068;0.314;0.314;0.209	B;B;B;B	0.30855	0.014;0.073;0.121;0.056	T	0.23476	-1.0187	10	0.22109	T	0.4	-0.7352	10.5358	0.45002	0.0:0.6812:0.2498:0.069	.	684;817;848;921	Q59GZ0;Q14687-2;Q14687-3;Q14687	.;.;.;GSE1_HUMAN	S	817;921;848	ENSP00000384839:P817S;ENSP00000253458:P921S;ENSP00000376934:P848S	ENSP00000253458:P921S	P	+	1	0	KIAA0182	84257085	0.931000	0.31567	0.680000	0.29994	0.223000	0.24884	3.219000	0.51200	0.250000	0.21479	-0.254000	0.11334	CCA		0.498	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		19	57	0	0	0	0.043863	0	19	57				
ARRB2	409	broad.mit.edu	37	17	4621224	4621224	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr17:4621224C>T	ENST00000269260.2	+	8	760	c.527C>T	c.(526-528)cCg>cTg	p.P176L	ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000346341.2_Missense_Mutation_p.P161L|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.P197L|ARRB2_ENST00000381488.6_Missense_Mutation_p.P161L|ARRB2_ENST00000575877.1_Missense_Mutation_p.P176L|ARRB2_ENST00000571206.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	176					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)	p.P176L(1)		large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CAGTTCGCCCCGGAGAAACCC	0.632																																							uc002fyj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(526-528)CCG>CTG		arrestin, beta 2 isoform 1							42.0	41.0	41.0					17																	4621224		2203	4300	6503	SO:0001583	missense	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4621224C>T		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.527C>T	17.37:g.4621224C>T	ENSP00000269260:p.Pro176Leu					ARRB2_uc002fyk.2_Missense_Mutation_p.P161L|ARRB2_uc002fyl.2_Missense_Mutation_p.P176L|ARRB2_uc010vsg.1_Missense_Mutation_p.P197L|ARRB2_uc002fym.2_Missense_Mutation_p.P161L|ARRB2_uc002fyn.2_5'UTR|ARRB2_uc010ckq.2_5'UTR|ARRB2_uc002fyo.2_5'UTR	p.P176L	NM_004313	NP_004304	P32121	ARRB2_HUMAN			8	755	+			176					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	ENST00000269260.2	37	c.527C>T	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764389	0.89932	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T	0.38240	1.15;1.15	4.77	4.77	0.60923	Arrestin, N-terminal (1);Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	T	0.69260	0.3091	M	0.93854	3.465	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.992;0.996;0.994;0.999;0.99	T	0.78443	-0.2202	10	0.87932	D	0	-6.2554	15.3396	0.74284	0.0:1.0:0.0:0.0	.	197;161;176;161;176	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	L	176;176;161;177	ENSP00000269260:P176L;ENSP00000341895:P161L	ENSP00000269260:P176L	P	+	2	0	ARRB2	4567973	1.000000	0.71417	0.993000	0.49108	0.698000	0.40448	7.538000	0.82048	2.479000	0.83701	0.655000	0.94253	CCG		0.632	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		13	12	0	0	0	0.105934	0	13	12				
TP53	7157	broad.mit.edu	37	17	7578466	7578466	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr17:7578466G>A	ENST00000269305.4	-	5	653	c.464C>T	c.(463-465)aCc>aTc	p.T155I	TP53_ENST00000455263.2_Missense_Mutation_p.T155I|TP53_ENST00000420246.2_Missense_Mutation_p.T155I|TP53_ENST00000445888.2_Missense_Mutation_p.T155I|TP53_ENST00000359597.4_Missense_Mutation_p.T155I|TP53_ENST00000413465.2_Missense_Mutation_p.T155I|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	155	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation). {ECO:0000269|PubMed:14660794}.|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T155N(22)|p.T155I(14)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.T155_R156delTR(1)|p.T155S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCGGACGCGGGTGCCGGGCGG	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		75	Substitution - Missense(41)|Deletion - Frameshift(14)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(5)|Insertion - Frameshift(1)	p.T155N(19)|p.T155P(14)|p.T155I(10)|p.0?(7)|p.T155A(7)|p.T155T(5)|p.P152fs*14(3)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155S(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155fs*15(1)|p.R156fs*25(1)|p.T155_R156delTR(1)	lung(14)|upper_aerodigestive_tract(11)|breast(8)|skin(6)|stomach(5)|oesophagus(5)|ovary(5)|central_nervous_system(4)|bone(4)|large_intestine(3)|liver(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|pancreas(2)|soft_tissue(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM942117	TP53	M		c.(463-465)ACC>ATC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	52.0	51.0					17																	7578466		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578466G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.464C>T	17.37:g.7578466G>A	ENSP00000269305:p.Thr155Ile	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.T155I|TP53_uc002gih.2_Missense_Mutation_p.T155I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.T23I|TP53_uc010cng.1_Missense_Mutation_p.T23I|TP53_uc002gii.1_Missense_Mutation_p.T23I|TP53_uc010cnh.1_Missense_Mutation_p.T155I|TP53_uc010cni.1_Missense_Mutation_p.T155I|TP53_uc002gij.2_Missense_Mutation_p.T155I|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.T62I|TP53_uc002gio.2_Missense_Mutation_p.T23I|TP53_uc010vug.1_Missense_Mutation_p.T116I	p.T155I	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	658	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	155		T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.464C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.342695	0.24339	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99773	-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72;-6.72	5.47	-0.466	0.12153	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.718085	0.14119	N	0.340173	D	0.99701	0.9886	M	0.76328	2.33	0.09310	N	1	D;P;B;D;P;P;D	0.76494	0.999;0.865;0.053;0.996;0.818;0.945;0.999	D;P;B;D;P;D;D	0.80764	0.994;0.817;0.044;0.99;0.886;0.915;0.991	D	0.99589	1.0975	10	0.87932	D	0	-6.4954	20.1723	0.98160	0.0:0.5036:0.4964:0.0	.	116;155;155;62;155;155;155	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	I	155;155;155;155;155;155;144;62;23;62;23;155	ENSP00000410739:T155I;ENSP00000352610:T155I;ENSP00000269305:T155I;ENSP00000398846:T155I;ENSP00000391127:T155I;ENSP00000391478:T155I;ENSP00000425104:T23I;ENSP00000423862:T62I;ENSP00000424104:T155I	ENSP00000269305:T155I	T	-	2	0	TP53	7519191	0.057000	0.20700	0.000000	0.03702	0.011000	0.07611	0.842000	0.27627	-0.440000	0.07211	-2.650000	0.00149	ACC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		6	71	0	0	0	0.021553	0	6	71				
KRTAP9-2	83899	broad.mit.edu	37	17	39383064	39383064	+	Missense_Mutation	SNP	G	G	A	rs140426018		TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr17:39383064G>A	ENST00000377721.3	+	1	165	c.158G>A	c.(157-159)cGc>cAc	p.R53H	KRTAP9-2_ENST00000455970.2_Missense_Mutation_p.R53H	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	53	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)		p.R53H(1)		large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTTGCTGCCGCCCAACTTGC	0.647													.|||	1	0.000199681	0.0	0.0	5008	,	,		21665	0.0		0.001	False		,,,				2504	0.0						uc002hwf.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(157-159)CGC>CAC		keratin associated protein 9.2		G	HIS/ARG	1,4405		0,1,2202	73.0	65.0	68.0		158	-4.4	0.0	17	dbSNP_134	68	0,8600		0,0,4300	no	missense	KRTAP9-2	NM_031961.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	53/175	39383064	1,13005	2203	4300	6503	SO:0001583	missense	83899					keratin filament	protein binding	g.chr17:39383064G>A	AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"""Keratin associated proteins"""	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.158G>A	17.37:g.39383064G>A	ENSP00000366950:p.Arg53His						p.R53H	NM_031961	NP_114167	Q9BYQ4	KRA92_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	165	+		Breast(137;0.000496)	53			6.|17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].		Q17RK8|Q2TB15|Q6ISF6	Missense_Mutation	SNP	ENST00000377721.3	37	c.158G>A	CCDS32651.1	.	.	.	.	.	.	.	.	.	.	.	7.440	0.640523	0.14386	2.27E-4	0.0	ENSG00000239886	ENST00000377721;ENST00000455970	T;T	0.01548	4.78;4.9	2.18	-4.37	0.03633	.	.	.	.	.	T	0.02418	0.0074	M	0.62209	1.925	0.09310	N	1	D	0.54207	0.965	P	0.46389	0.515	T	0.10132	-1.0643	9	0.41790	T	0.15	.	2.0448	0.03558	0.2261:0.4299:0.1979:0.1461	.	53	Q9BYQ4	KRA92_HUMAN	H	53	ENSP00000366950:R53H;ENSP00000398325:R53H	ENSP00000366950:R53H	R	+	2	0	KRTAP9-2	36636590	0.000000	0.05858	0.012000	0.15200	0.047000	0.14425	-0.765000	0.04730	-1.235000	0.02545	-0.270000	0.10280	CGC		0.647	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257717.1			18	84	0	0	0	0.059317	0	18	84				
PITPNC1	26207	broad.mit.edu	37	17	65688807	65688807	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr17:65688807G>A	ENST00000581322.1	+	9	802	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	PITPNC1_ENST00000335257.6_Missense_Mutation_p.V268I|PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000580974.1_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	268					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)	p.V268I(2)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GCCTTCTTCCGTCCGCAGTGC	0.557																																							uc002jgc.2		NA																	2	Substitution - Missense(2)		prostate(1)|lung(1)	skin(1)	1						c.(802-804)GTC>ATC		phosphatidylinositol transfer protein,							121.0	127.0	125.0					17																	65688807		1991	4162	6153	SO:0001583	missense	26207				signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	g.chr17:65688807G>A	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.802G>A	17.37:g.65688807G>A	ENSP00000464006:p.Val268Ile					PITPNC1_uc002jgb.2_3'UTR	p.V268I	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		9	1149	+	all_cancers(12;3.03e-10)		268					A8K473|J3QR20|Q96I07	Missense_Mutation	SNP	ENST00000581322.1	37	c.802G>A	CCDS58588.1	.	.	.	.	.	.	.	.	.	.	G	8.254	0.809691	0.16537	.	.	ENSG00000154217	ENST00000335257	T	0.44083	0.93	5.75	3.59	0.41128	.	0.222920	0.47455	D	0.000223	T	0.16811	0.0404	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05257	-1.0896	10	0.34782	T	0.22	-1.2887	4.3035	0.10935	0.3704:0.0:0.6296:0.0	.	268	Q9UKF7	PITC1_HUMAN	I	268	ENSP00000335618:V268I	ENSP00000335618:V268I	V	+	1	0	PITPNC1	63119269	1.000000	0.71417	0.882000	0.34594	0.097000	0.18754	4.034000	0.57289	1.451000	0.47736	-0.136000	0.14681	GTC		0.557	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1	NM_012417		46	96	0	0	0	0.139131	0	46	96				
USP14	9097	broad.mit.edu	37	18	197634	197634	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr18:197634A>C	ENST00000261601.7	+	8	704	c.613A>C	c.(613-615)Ata>Cta	p.I205L	USP14_ENST00000400266.3_Missense_Mutation_p.I194L|USP14_ENST00000383589.2_Missense_Mutation_p.I159L|USP14_ENST00000582707.1_Missense_Mutation_p.I170L	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	205	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.I205L(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TGAATGTTGGATACAAATGAT	0.318																																							uc002kkf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(613-615)ATA>CTA		ubiquitin specific protease 14 isoform a							122.0	129.0	126.0					18																	197634		2203	4299	6502	SO:0001583	missense	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:197634A>C	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.613A>C	18.37:g.197634A>C	ENSP00000261601:p.Ile205Leu					USP14_uc002kkg.1_Missense_Mutation_p.I170L|USP14_uc010wyr.1_Missense_Mutation_p.I194L	p.I205L	NM_005151	NP_005142	P54578	UBP14_HUMAN			8	829	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	205					J3QRZ5|Q53XY5	Missense_Mutation	SNP	ENST00000261601.7	37	c.613A>C	CCDS32780.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.886573	0.33348	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T	0.27557	1.66;1.66	5.72	-3.56	0.04626	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.422326	0.26442	N	0.024358	T	0.10809	0.0264	N	0.02011	-0.69	0.37378	D	0.911907	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.11446	-1.0587	10	0.31617	T	0.26	-9.0456	14.7725	0.69691	0.2943:0.0:0.7057:0.0	.	194;170;205	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	L	205;170;194	ENSP00000261601:I205L;ENSP00000383125:I194L	ENSP00000261601:I205L	I	+	1	0	USP14	187634	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	0.675000	0.25232	-0.381000	0.07882	-0.417000	0.06048	ATA		0.318	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		10	50	0	0	0	0.080935	0	10	50				
CYP4F8	11283	broad.mit.edu	37	19	15730354	15730354	+	RNA	SNP	G	G	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr19:15730354G>T	ENST00000441682.2	+	0	461							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.G133W(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GCCCTGGCTGGGTAAGTAACT	0.547																																							uc002nbi.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(397-399)GGG>TGG		cytochrome P450, family 4, subfamily F,							67.0	69.0	68.0					19																	15730354		2126	4241	6367			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15730354G>T	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15730354G>T						CYP4F8_uc010xoi.1_3'UTR|CYP4F8_uc010xoj.1_Intron	p.G133W	NM_007253	NP_009184	P98187	CP4F8_HUMAN			4	461	+			133						Missense_Mutation	SNP	ENST00000441682.2	37	c.397G>T		.	.	.	.	.	.	.	.	.	.	.	12.74	2.027271	0.35797	.	.	ENSG00000186526	ENST00000441682	.	.	.	3.05	1.98	0.26296	.	0.070506	0.56097	U	0.000031	T	0.67021	0.2849	.	.	.	.	.	.	D	0.89917	1.0	D	0.97110	1.0	T	0.74144	-0.3760	7	0.87932	D	0	.	7.8409	0.29397	0.1321:0.0:0.8679:0.0	.	133	P98187	CP4F8_HUMAN	W	133	.	ENSP00000409702:G133W	G	+	1	0	CYP4F8	15591354	1.000000	0.71417	1.000000	0.80357	0.173000	0.22820	6.694000	0.74587	0.623000	0.30267	0.411000	0.27672	GGG		0.547	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		17	42	1	0	2.35188e-11	0.038395	3.26455e-11	17	42				
NTN5	126147	broad.mit.edu	37	19	49173881	49173881	+	Silent	SNP	C	C	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr19:49173881C>A	ENST00000270235.4	-	2	458	c.363G>T	c.(361-363)gtG>gtT	p.V121V	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	121						extracellular region (GO:0005576)		p.V121V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						AGTGGAAGGTCACCCTTTCAG	0.697																																							uc002pkb.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(361-363)GTG>GTT		netrin 5 precursor							8.0	10.0	9.0					19																	49173881		2183	4276	6459	SO:0001819	synonymous_variant	126147					extracellular region		g.chr19:49173881C>A		CCDS33068.1	19q13.33	2013-03-01			ENSG00000142233	ENSG00000142233		"""Netrins"""	25208	protein-coding gene	gene with protein product	"""Netrin-5"""					12477932	Standard	NM_145807		Approved		uc002pkb.3	Q8WTR8		ENST00000270235.4:c.363G>T	19.37:g.49173881C>A						SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|NTN5_uc002pkc.2_Silent_p.V121V	p.V121V	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN			2	459	-			121					Q8N4X9|Q8WU63	Silent	SNP	ENST00000270235.4	37	c.363G>T	CCDS33068.1																																																																																				0.697	NTN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466176.1	NM_145807		3	4	1	0	0.004672	0.115264	0.005952	3	4				
ZNF845	91664	broad.mit.edu	37	19	53855879	53855879	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr19:53855879C>G	ENST00000595091.1	+	5	2170	c.1951C>G	c.(1951-1953)Caa>Gaa	p.Q651E	ZNF845_ENST00000458035.1_Missense_Mutation_p.Q651E			Q96IR2	ZN845_HUMAN	zinc finger protein 845	651					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q651E(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATCAAACCTTCAAAGACATAG	0.398																																							uc010ydv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1951-1953)CAA>GAA		zinc finger protein 845							19.0	18.0	19.0					19																	53855879		692	1589	2281	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855879C>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1951C>G	19.37:g.53855879C>G	ENSP00000470005:p.Gln651Glu					ZNF845_uc010ydw.1_Missense_Mutation_p.Q651E	p.Q651E	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	2068	+			651			C2H2-type 16.			Missense_Mutation	SNP	ENST00000595091.1	37	c.1951C>G	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.712761	0.00712	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.11821	2.74	1.98	-3.95	0.04118	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05090	0.0136	N	0.12443	0.215	0.09310	N	1	B	0.23058	0.079	B	0.12837	0.008	T	0.22312	-1.0220	9	0.28530	T	0.3	.	0.8451	0.01159	0.3331:0.2896:0.1039:0.2734	.	651	Q96IR2	ZN845_HUMAN	E	651	ENSP00000388311:Q651E	ENSP00000412086:Q651E	Q	+	1	0	ZNF845	58547691	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.704000	0.00196	-3.257000	0.00203	-0.683000	0.03753	CAA		0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	64	0	0	0	0.115264	0	3	64				
ATP6V1C2	245973	broad.mit.edu	37	2	10914974	10914974	+	Silent	SNP	T	T	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr2:10914974T>A	ENST00000272238.4	+	9	808	c.699T>A	c.(697-699)atT>atA	p.I233I	ATP6V1C2_ENST00000381661.3_Silent_p.I233I	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	233					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)	p.I233I(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GAAAAGTGATTGAAGATTTCA	0.498																																					NSCLC(188;1042 2136 10807 16813 47705)	NSCLC(188;1042 2136 10807 16813 47705)	uc002ras.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(697-699)ATT>ATA		vacuolar H+ ATPase C2 isoform a							113.0	121.0	118.0					2																	10914974		2203	4300	6503	SO:0001819	synonymous_variant	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10914974T>A	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.699T>A	2.37:g.10914974T>A						ATP6V1C2_uc002rat.2_Silent_p.I233I	p.I233I	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	9	808	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		233					Q96EL8	Silent	SNP	ENST00000272238.4	37	c.699T>A	CCDS42653.1																																																																																				0.498	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		26	216	0	0	0	0.116897	0	26	216				
DCTN1	1639	broad.mit.edu	37	2	74597184	74597184	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr2:74597184G>C	ENST00000361874.3	-	13	1617	c.1300C>G	c.(1300-1302)Ctg>Gtg	p.L434V	DCTN1_ENST00000409240.1_Missense_Mutation_p.L397V|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000407639.2_Missense_Mutation_p.L300V|DCTN1_ENST00000409868.1_Missense_Mutation_p.L417V|DCTN1_ENST00000409567.3_Missense_Mutation_p.L414V|DCTN1_ENST00000409438.1_Missense_Mutation_p.L300V|DCTN1_ENST00000394003.3_Missense_Mutation_p.L427V	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	434					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.L434V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCAGCACCCAGAGCAGCATCC	0.542																																							uc002skx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1300-1302)CTG>GTG		dynactin 1 isoform 1							138.0	117.0	124.0					2																	74597184		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74597184G>C		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1300C>G	2.37:g.74597184G>C	ENSP00000354791:p.Leu434Val					DCTN1_uc002skv.2_Missense_Mutation_p.L300V|DCTN1_uc002sku.2_Missense_Mutation_p.L300V|DCTN1_uc002skw.1_Missense_Mutation_p.L410V|DCTN1_uc010ffd.2_Missense_Mutation_p.L414V|DCTN1_uc002sky.2_Missense_Mutation_p.L397V	p.L434V	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			13	1611	-			434			Potential.		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.1300C>G	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.303343	0.60195	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-0.95;-1.07	5.65	4.58	0.56647	.	0.000000	0.33916	N	0.004432	D	0.87297	0.6142	M	0.84219	2.685	0.51233	D	0.999912	D;D;D;P;P;D	0.89917	0.998;1.0;0.993;0.598;0.741;0.996	D;D;D;B;B;D	0.77004	0.91;0.989;0.952;0.336;0.439;0.978	D	0.88278	0.2934	10	0.87932	D	0	-5.7589	11.2362	0.48942	0.138:0.0:0.862:0.0	.	414;397;434;427;300;300	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	V	434;427;417;300;300;397;417;414	ENSP00000354791:L434V;ENSP00000377571:L427V;ENSP00000384844:L300V;ENSP00000387270:L300V;ENSP00000386406:L397V;ENSP00000387327:L417V;ENSP00000386843:L414V	ENSP00000354791:L434V	L	-	1	2	DCTN1	74450692	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.016000	0.40971	2.659000	0.90383	0.655000	0.94253	CTG		0.542	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		53	138	0	0	0	0.139131	0	53	138				
MBD5	55777	broad.mit.edu	37	2	149228015	149228015	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr2:149228015A>G	ENST00000407073.1	+	9	3500	c.2503A>G	c.(2503-2505)Aca>Gca	p.T835A	MBD5_ENST00000404807.1_Missense_Mutation_p.T835A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	835					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.T835A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CTATAATCAAACAAGTTCTGA	0.333																																							uc002twm.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(2503-2505)ACA>GCA		methyl-CpG binding domain protein 5							48.0	49.0	49.0					2																	149228015		2203	4298	6501	SO:0001583	missense	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149228015A>G	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2503A>G	2.37:g.149228015A>G	ENSP00000386049:p.Thr835Ala					MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.T835A|MBD5_uc002twn.1_Missense_Mutation_p.T276A	p.T835A	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	9	3491	+			835					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	ENST00000407073.1	37	c.2503A>G	CCDS33302.1	.	.	.	.	.	.	.	.	.	.	A	10.23	1.292851	0.23564	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.45668	0.89;0.9	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000005	T	0.30417	0.0764	N	0.19112	0.55	0.44330	D	0.997218	B;B	0.31910	0.251;0.346	B;B	0.32211	0.046;0.142	T	0.21965	-1.0230	10	0.66056	D	0.02	-7.0247	13.6569	0.62344	1.0:0.0:0.0:0.0	.	835;835	Q9P267-2;Q9P267	.;MBD5_HUMAN	A	835	ENSP00000386049:T835A;ENSP00000384672:T835A	ENSP00000384672:T835A	T	+	1	0	MBD5	148944485	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.581000	0.60949	2.218000	0.71995	0.533000	0.62120	ACA		0.333	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			20	50	0	0	0	0.049695	0	20	50				
STK35	140901	broad.mit.edu	37	20	2097560	2097560	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr20:2097560G>T	ENST00000381482.3	+	3	1412	c.1141G>T	c.(1141-1143)Gac>Tac	p.D381Y	STK35_ENST00000246032.3_Missense_Mutation_p.D248Y|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	381	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D381Y(1)		large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						CAAAGTGGCCGACTTTGGACT	0.517																																							uc010gak.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1141-1143)GAC>TAC		serine/threonine kinase 35							59.0	53.0	55.0					20																	2097560		2203	4300	6503	SO:0001583	missense	140901					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr20:2097560G>T	AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"""CLP-36 interacting kinase"""	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.1141G>T	20.37:g.2097560G>T	ENSP00000370891:p.Asp381Tyr					STK35_uc010zpu.1_Intron|STK35_uc002wfw.3_Missense_Mutation_p.D248Y	p.D381Y	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN			3	1141	+			381			Protein kinase.		B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Missense_Mutation	SNP	ENST00000381482.3	37	c.1141G>T	CCDS13024.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098088	0.76870	.	.	ENSG00000125834	ENST00000381482;ENST00000246032	D;D	0.93076	-3.16;-3.16	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97773	0.9269	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98476	1.0603	10	0.87932	D	0	-24.0816	16.94	0.86215	0.0:0.0:1.0:0.0	.	381	Q8TDR2	STK35_HUMAN	Y	381;248	ENSP00000370891:D381Y;ENSP00000246032:D248Y	ENSP00000246032:D248Y	D	+	1	0	STK35	2045560	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.657000	0.98554	2.861000	0.98227	0.655000	0.94253	GAC		0.517	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	NM_080836		28	39	1	0	5.45727e-16	0.134883	7.68979e-16	28	39				
CSE1L	1434	broad.mit.edu	37	20	47682732	47682732	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr20:47682732G>A	ENST00000262982.2	+	4	355	c.232G>A	c.(232-234)Gaa>Aaa	p.E78K	CSE1L_ENST00000396192.3_Missense_Mutation_p.E78K|CSE1L_ENST00000542325.1_Intron	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	78	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)	p.E78K(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CTTTTAGGTTGAAGATGAACC	0.368																																							uc002xty.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(232-234)GAA>AAA		CSE1 chromosome segregation 1-like protein							80.0	75.0	77.0					20																	47682732		2203	4300	6503	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47682732G>A	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.232G>A	20.37:g.47682732G>A	ENSP00000262982:p.Glu78Lys					CSE1L_uc010zyg.1_Intron|CSE1L_uc010ghx.2_Missense_Mutation_p.E78K	p.E78K	NM_001316	NP_001307	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		4	366	+			78			Importin N-terminal.		A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.232G>A	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	G	34	5.383391	0.95967	.	.	ENSG00000124207	ENST00000262982;ENST00000396192	T;T	0.68624	-0.34;-0.34	5.62	5.62	0.85841	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.80177	0.4575	M	0.80746	2.51	0.80722	D	1	P;P	0.46327	0.876;0.868	P;P	0.54026	0.74;0.664	T	0.80591	-0.1314	10	0.49607	T	0.09	-19.1462	19.6582	0.95853	0.0:0.0:1.0:0.0	.	78;78	F8W904;P55060	.;XPO2_HUMAN	K	78	ENSP00000262982:E78K;ENSP00000379495:E78K	ENSP00000262982:E78K	E	+	1	0	CSE1L	47116139	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.634000	0.89283	0.655000	0.94253	GAA		0.368	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		26	44	0	0	0	0.116897	0	26	44				
SLC2A4RG	56731	broad.mit.edu	37	20	62373320	62373320	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr20:62373320G>A	ENST00000266077.2	+	4	542	c.490G>A	c.(490-492)Gac>Aac	p.D164N	SLC2A4RG_ENST00000493772.1_Intron|RP4-583P15.10_ENST00000447343.2_RNA	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D164N(1)		NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCTGGCCAGTGACCAGTCCTC	0.662																																							uc002ygq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(490-492)GAC>AAC		SLC2A4 regulator							29.0	33.0	32.0					20																	62373320		2198	4299	6497	SO:0001583	missense	56731					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62373320G>A	AF249267	CCDS13537.1	20q13.33	2010-03-11			ENSG00000125520	ENSG00000125520			15930	protein-coding gene	gene with protein product	"""GLUT4 enhancer factor"", ""Huntington's disease gene regulatory region-binding protein 1"""	609493				10825161	Standard	NM_020062		Approved	GEF, HDBP1, Si-1-2, Si-1-2-19	uc002ygq.3	Q9NR83	OTTHUMG00000032997	ENST00000266077.2:c.490G>A	20.37:g.62373320G>A	ENSP00000266077:p.Asp164Asn					SLC2A4RG_uc002ygr.2_Missense_Mutation_p.D59N|SLC2A4RG_uc011abj.1_Missense_Mutation_p.D59N|SLC2A4RG_uc002ygs.2_Intron|SLC2A4RG_uc002ygt.2_5'UTR	p.D164N	NM_020062	NP_064446	Q9NR83	S2A4R_HUMAN			4	545	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		164					Q2PHL5|Q6F6I6|Q6F6I7|Q6GTK5|Q8TAH5|Q8WVW7|Q96QD3|Q9BV85	Missense_Mutation	SNP	ENST00000266077.2	37	c.490G>A	CCDS13537.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133479	0.77662	.	.	ENSG00000125520	ENST00000266077	T	0.37235	1.21	3.86	2.88	0.33553	.	0.000000	0.36972	U	0.002320	T	0.44074	0.1276	L	0.54323	1.7	0.29907	N	0.823915	D	0.57571	0.98	P	0.57152	0.814	T	0.41556	-0.9502	10	0.54805	T	0.06	.	7.5777	0.27946	0.1278:0.0:0.8722:0.0	.	164	Q9NR83	S2A4R_HUMAN	N	164	ENSP00000266077:D164N	ENSP00000266077:D164N	D	+	1	0	SLC2A4RG	61843764	0.790000	0.28787	0.920000	0.36463	0.904000	0.53231	2.834000	0.48167	0.592000	0.29728	0.313000	0.20887	GAC		0.662	SLC2A4RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080202.1	NM_020062		9	31	0	0	0	0.080935	0	9	31				
GAL3ST1	9514	broad.mit.edu	37	22	30951309	30951309	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr22:30951309G>C	ENST00000402321.1	-	3	1220	c.903C>G	c.(901-903)aaC>aaG	p.N301K	GAL3ST1_ENST00000406361.1_Missense_Mutation_p.N301K|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.N301K|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.N301K|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.N301K|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.N301K|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.N301K			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	301					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)	p.N301K(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						AGTCCAGCATGTTCCAGGCGG	0.706																																							uc003aig.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(901-903)AAC>AAG		galactose-3-O-sulfotransferase 1							22.0	27.0	25.0					22																	30951309		2200	4295	6495	SO:0001583	missense	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951309G>C	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.903C>G	22.37:g.30951309G>C	ENSP00000385735:p.Asn301Lys					GAL3ST1_uc003aih.1_Missense_Mutation_p.N301K|GAL3ST1_uc003aii.1_Missense_Mutation_p.N301K|GAL3ST1_uc010gvz.1_Missense_Mutation_p.N301K	p.N301K	NM_004861	NP_004852	Q99999	G3ST1_HUMAN			4	1043	-			301			Lumenal (Potential).		Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	c.903C>G	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498998	0.64298	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111	T;T;T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34;2.34;2.34	5.55	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.39627	0.1085	M	0.76433	2.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.22034	-1.0228	10	0.59425	D	0.04	-61.3721	10.4452	0.44490	0.1518:0.0:0.8482:0.0	.	301	Q99999	G3ST1_HUMAN	K	301	ENSP00000385825:N301K;ENSP00000385735:N301K;ENSP00000384122:N301K;ENSP00000384388:N301K;ENSP00000343234:N301K;ENSP00000385207:N301K;ENSP00000402587:N301K	ENSP00000343234:N301K	N	-	3	2	GAL3ST1	29281309	1.000000	0.71417	0.979000	0.43373	0.893000	0.52053	2.621000	0.46418	1.346000	0.45694	0.561000	0.74099	AAC		0.706	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		9	13	0	0	0	0.09319	0	9	13				
POLDIP3	84271	broad.mit.edu	37	22	42988085	42988085	+	Silent	SNP	A	A	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr22:42988085A>C	ENST00000252115.5	-	7	1001	c.897T>G	c.(895-897)ctT>ctG	p.L299L	POLDIP3_ENST00000339677.6_Intron|POLDIP3_ENST00000348657.2_Silent_p.L270L|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000451060.2_Silent_p.L143L	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	299	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L299L(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						ACACACAGAAAAGCTCCTGCA	0.572																																					Ovarian(52;967 1128 5875 19997 42537)	Ovarian(52;967 1128 5875 19997 42537)	uc003bcu.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(895-897)CTT>CTG		DNA polymerase delta interacting protein 3							117.0	109.0	111.0					22																	42988085		2203	4300	6503	SO:0001819	synonymous_variant	84271				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr22:42988085A>C		CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"""RNA binding motif (RRM) containing"""	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.897T>G	22.37:g.42988085A>C						POLDIP3_uc011app.1_Silent_p.L220L|POLDIP3_uc003bcv.2_Silent_p.L270L|POLDIP3_uc011apq.1_Silent_p.L316L|POLDIP3_uc010gza.2_RNA|POLDIP3_uc011apr.1_RNA|POLDIP3_uc010gzb.1_Intron	p.L299L	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN			7	996	-			299			RRM.		A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Silent	SNP	ENST00000252115.5	37	c.897T>G	CCDS14038.1																																																																																				0.572	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311		39	129	0	0	0	0.117977	0	39	129				
IL17RE	132014	broad.mit.edu	37	3	9950949	9950949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr3:9950949C>T	ENST00000383814.3	+	8	889	c.784C>T	c.(784-786)Cag>Tag	p.Q262*	IL17RE_ENST00000421412.1_Nonsense_Mutation_p.Q295*|IL17RE_ENST00000295980.3_Nonsense_Mutation_p.Q262*|IL17RE_ENST00000454190.2_Nonsense_Mutation_p.Q262*	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	262					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q262*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		ATGTCCCTTCCAGAGCTGGCC	0.537																																							uc003btu.2		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(784-786)CAG>TAG		interleukin 17 receptor E isoform 1							97.0	75.0	83.0					3																	9950949		2203	4300	6503	SO:0001587	stop_gained	132014					cytoplasm|extracellular region|integral to membrane	receptor activity	g.chr3:9950949C>T	AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"""Interleukins and interleukin receptors"""	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	ENST00000383814.3:c.784C>T	3.37:g.9950949C>T	ENSP00000373325:p.Gln262*					CIDEC_uc003bto.2_Intron|IL17RE_uc003btv.2_Nonsense_Mutation_p.Q262*|IL17RE_uc011atn.1_Intron|IL17RE_uc003btw.2_Nonsense_Mutation_p.Q262*|IL17RE_uc003btx.2_Nonsense_Mutation_p.Q146*|IL17RE_uc010hcq.2_Nonsense_Mutation_p.Q262*|IL17RE_uc003bty.2_RNA	p.Q262*	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)	9	901	+			262			Extracellular (Potential).		B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Nonsense_Mutation	SNP	ENST00000383814.3	37	c.784C>T	CCDS2589.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539719	0.85917	.	.	ENSG00000163701	ENST00000421412;ENST00000295980;ENST00000383814;ENST00000454190;ENST00000441648	.	.	.	5.22	3.16	0.36331	.	0.616991	0.16314	N	0.219871	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-6.4256	12.9301	0.58282	0.3063:0.6937:0.0:0.0	.	.	.	.	X	295;262;262;262;145	.	ENSP00000295980:Q262X	Q	+	1	0	IL17RE	9925949	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	1.335000	0.33839	1.144000	0.42321	0.591000	0.81541	CAG		0.537	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1	NM_153480		9	22	0	0	0	0.069234	0	9	22				
LRRIQ4	344657	broad.mit.edu	37	3	169540678	169540678	+	Nonsense_Mutation	SNP	T	T	A	rs13062420		TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr3:169540678T>A	ENST00000340806.6	+	1	969	c.969T>A	c.(967-969)tgT>tgA	p.C323*		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	323								p.C323*(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGCAGATCTGTGCACTGAAGA	0.557																																							uc003fgb.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(967-969)TGT>TGA		leucine-rich repeats and IQ motif containing 4							29.0	31.0	30.0					3																	169540678		1964	4156	6120	SO:0001587	stop_gained	344657							g.chr3:169540678T>A		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.969T>A	3.37:g.169540678T>A	ENSP00000342188:p.Cys323*						p.C323*	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			1	969	+			323			LRR 13.			Nonsense_Mutation	SNP	ENST00000340806.6	37	c.969T>A	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.668824	0.47677	.	.	ENSG00000188306	ENST00000340806	.	.	.	5.69	-1.03	0.10102	.	0.220504	0.40908	D	0.000996	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7618	0.62971	0.0:0.6557:0.0:0.3443	rs13062420	.	.	.	X	323	.	ENSP00000342188:C323X	C	+	3	2	LRRIQ4	171023372	0.000000	0.05858	0.008000	0.14137	0.015000	0.08874	-0.806000	0.04525	-0.112000	0.11979	-0.379000	0.06801	TGT		0.557	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		10	18	0	0	0	0.058154	0	10	18				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																							uc003fuw.2		NA																	0					0						c.(22-24)CCA>CCG		SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);																																						727956							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G						SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA	p.P8P							9	1218	+									Silent	SNP	ENST00000445430.1	37	c.24A>G																																																																																					0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	34	0	0	0	0.115264	0	3	34				
GPR125	166647	broad.mit.edu	37	4	22389442	22389442	+	Silent	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr4:22389442G>A	ENST00000334304.5	-	19	4121	c.3852C>T	c.(3850-3852)aaC>aaT	p.N1284N	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1284					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.N1284N(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GAATGGCCAAGTTGAGGCCAT	0.433																																							uc003gqm.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(3850-3852)AAC>AAT		G protein-coupled receptor 125 precursor							94.0	92.0	93.0					4																	22389442		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22389442G>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3852C>T	4.37:g.22389442G>A						GPR125_uc010ieo.1_Silent_p.N1140N|GPR125_uc003gql.1_Silent_p.N411N	p.N1284N	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			19	4117	-		Breast(46;0.198)	1284			Cytoplasmic (Potential).		Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.3852C>T	CCDS33964.1																																																																																				0.433	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			16	65	0	0	0	0.0333	0	16	65				
CCNA2	890	broad.mit.edu	37	4	122741887	122741887	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr4:122741887T>A	ENST00000274026.5	-	4	907	c.604A>T	c.(604-606)Aaa>Taa	p.K202*		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	202					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.K202*(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TCTGGCTGTTTCTTCATGTAA	0.333																																							uc003iec.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(604-606)AAA>TAA		cyclin A							133.0	134.0	134.0					4																	122741887		2203	4300	6503	SO:0001587	stop_gained	890				cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding	g.chr4:122741887T>A		CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.604A>T	4.37:g.122741887T>A	ENSP00000274026:p.Lys202*						p.K202*	NM_001237	NP_001228	P20248	CCNA2_HUMAN			4	909	-			202					A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Nonsense_Mutation	SNP	ENST00000274026.5	37	c.604A>T	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	T	40	8.306342	0.98752	.	.	ENSG00000145386	ENST00000274026	.	.	.	5.99	5.99	0.97316	.	0.042368	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4943	0.84223	0.0:0.0:0.0:1.0	.	.	.	.	X	202	.	ENSP00000274026:K202X	K	-	1	0	CCNA2	122961337	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.933000	0.87642	2.291000	0.77112	0.533000	0.62120	AAA		0.333	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237		62	96	0	0	0	0.139131	0	62	96				
WWC2	80014	broad.mit.edu	37	4	184182392	184182392	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr4:184182392C>A	ENST00000403733.3	+	11	1815	c.1616C>A	c.(1615-1617)gCc>gAc	p.A539D	WWC2_ENST00000513834.1_Missense_Mutation_p.A539D|WWC2_ENST00000448232.2_Missense_Mutation_p.A539D|WWC2_ENST00000504005.1_Missense_Mutation_p.A221D|WWC2_ENST00000378925.3_Missense_Mutation_p.A441D	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	539					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)	p.A539D(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CTGGCTGAGGCCCCGAAGTCT	0.597																																							uc010irx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1615-1617)GCC>GAC		WW and C2 domain containing 2							69.0	55.0	60.0					4																	184182392		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184182392C>A	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1616C>A	4.37:g.184182392C>A	ENSP00000384222:p.Ala539Asp					WWC2_uc003ivk.3_Missense_Mutation_p.A334D|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Missense_Mutation_p.A221D|WWC2_uc003ivn.3_Missense_Mutation_p.A103D	p.A539D	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	11	1798	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	539					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.1616C>A	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100802	0.37048	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.12774	3.44;2.65;3.45;3.3;3.31	4.87	3.06	0.35304	.	0.713453	0.13328	N	0.396140	T	0.13114	0.0318	L	0.50333	1.59	0.36364	D	0.860906	B;B	0.28128	0.201;0.003	B;B	0.32289	0.143;0.004	T	0.10753	-1.0616	10	0.13470	T	0.59	-6.2879	8.6925	0.34275	0.1495:0.769:0.0:0.0815	.	539;539	Q6AWC2;Q6AWC2-4	WWC2_HUMAN;.	D	539;441;539;539;221	ENSP00000384222:A539D;ENSP00000368205:A441D;ENSP00000425054:A539D;ENSP00000398577:A539D;ENSP00000427569:A221D	ENSP00000368205:A441D	A	+	2	0	WWC2	184419386	1.000000	0.71417	0.985000	0.45067	0.371000	0.29859	4.500000	0.60387	0.595000	0.29777	0.650000	0.86243	GCC		0.597	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		5	16	1	0	3.09899e-07	0.047766	4.11722e-07	5	16				
FBXL7	23194	broad.mit.edu	37	5	15936591	15936591	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr5:15936591C>T	ENST00000504595.1	+	4	1253	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	MIR887_ENST00000401258.1_RNA|FBXL7_ENST00000329673.7_Missense_Mutation_p.R246W|FBXL7_ENST00000510662.1_Missense_Mutation_p.R211W	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	258					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.R258W(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CAGCTTGACCCGGGAGGCCTC	0.582																																							uc003jfn.1		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(2)|lung(1)	3						c.(772-774)CGG>TGG		F-box and leucine-rich repeat protein 7							51.0	51.0	51.0					5																	15936591		2101	4220	6321	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15936591C>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.772C>T	5.37:g.15936591C>T	ENSP00000423630:p.Arg258Trp						p.R258W	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			4	1253	+			258			LRR 4.		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.772C>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.386340	0.61956	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.53857	0.6;0.6;0.6	5.31	5.31	0.75309	.	0.053169	0.85682	D	0.000000	T	0.65217	0.2670	L	0.61036	1.89	0.80722	D	1	D	0.71674	0.998	P	0.54174	0.744	T	0.69146	-0.5222	10	0.72032	D	0.01	.	18.9742	0.92728	0.0:1.0:0.0:0.0	.	258	Q9UJT9	FBXL7_HUMAN	W	258;211;246	ENSP00000423630:R258W;ENSP00000425184:R211W;ENSP00000329632:R246W	ENSP00000329632:R246W	R	+	1	2	FBXL7	15989591	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.940000	0.70187	2.495000	0.84180	0.655000	0.94253	CGG		0.582	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		65	29	0	0	0	0.139131	0	65	29				
TNPO1	3842	broad.mit.edu	37	5	72196889	72196889	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr5:72196889G>A	ENST00000337273.5	+	22	2929	c.2503G>A	c.(2503-2505)Ggc>Agc	p.G835S	TNPO1_ENST00000523768.1_Missense_Mutation_p.G785S|TNPO1_ENST00000454282.1_Missense_Mutation_p.G785S|TNPO1_ENST00000506351.2_Missense_Mutation_p.G827S	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	835					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)	p.G827S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GAATCCCAGTGGCGTAATCCA	0.313																																							uc003kck.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7						c.(2503-2505)GGC>AGC		transportin 1 isoform 1							84.0	81.0	82.0					5																	72196889		2203	4300	6503	SO:0001583	missense	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72196889G>A	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2503G>A	5.37:g.72196889G>A	ENSP00000336712:p.Gly835Ser					TNPO1_uc011csj.1_Missense_Mutation_p.G785S|TNPO1_uc003kch.2_Missense_Mutation_p.G827S|TNPO1_uc003kci.3_Missense_Mutation_p.G827S|TNPO1_uc003kcg.3_Missense_Mutation_p.G827S	p.G835S	NM_002270	NP_002261	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	22	2650	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	835					B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	c.2503G>A	CCDS43329.1	.	.	.	.	.	.	.	.	.	.	G	35	5.517092	0.96416	.	.	ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351;ENST00000519220	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.52	5.52	0.82312	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76435	0.3987	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.982;0.987	T	0.79137	-0.1927	10	0.87932	D	0	-11.1326	19.7947	0.96474	0.0:0.0:1.0:0.0	.	785;835	Q92973-3;Q92973	.;TNPO1_HUMAN	S	835;785;785;827;346	ENSP00000336712:G835S;ENSP00000398524:G785S;ENSP00000428899:G785S;ENSP00000425118:G827S	ENSP00000336712:G835S	G	+	1	0	TNPO1	72232645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.384000	0.97219	2.758000	0.94735	0.557000	0.71058	GGC		0.313	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		14	27	0	0	0	0.105934	0	14	27				
PCDHGA4	56111	broad.mit.edu	37	5	140734993	140734993	+	Missense_Mutation	SNP	G	G	A	rs368097715		TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr5:140734993G>A	ENST00000571252.1	+	1	226	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	76	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTTTTCGCCCTGAACCC	0.632																																							uc003ljq.1		NA																	0					0						c.(226-228)GCC>ACC		protocadherin gamma subfamily A, 4 isoform 1							51.0	60.0	57.0					5																	140734993		2184	4297	6481	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140734993G>A	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.226G>A	5.37:g.140734993G>A	ENSP00000458570:p.Ala76Thr					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.A76T	p.A76T	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	226	+			76			Cadherin 1.|Extracellular (Potential).		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.226G>A	CCDS58979.1																																																																																				0.632	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		34	109	0	0	0	0.069456	0	34	109				
SH3TC2	79628	broad.mit.edu	37	5	148407707	148407707	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr5:148407707G>C	ENST00000515425.1	-	11	1689	c.1588C>G	c.(1588-1590)Ctc>Gtc	p.L530V	SH3TC2_ENST00000512049.1_Missense_Mutation_p.L523V|SH3TC2_ENST00000394358.2_Missense_Mutation_p.L415V|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000538184.1_Missense_Mutation_p.L77V	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	530					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)		p.L415V(1)|p.L530V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAAGCAGAGACGGGCATGG	0.542																																							uc003lpu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1588-1590)CTC>GTC		SH3 domain and tetratricopeptide repeats 2							86.0	94.0	92.0					5																	148407707		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148407707G>C	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1588C>G	5.37:g.148407707G>C	ENSP00000423660:p.Leu530Val					SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.L174V|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.L77V|SH3TC2_uc010jgx.2_Missense_Mutation_p.L523V|SH3TC2_uc003lpv.1_Missense_Mutation_p.L77V|SH3TC2_uc011dbz.1_Missense_Mutation_p.L415V	p.L530V	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	1740	-			530			TPR 1.		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.1588C>G	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529284	0.44969	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	6.04	6.04	0.98038	Tetratricopeptide-like helical (1);	0.145777	0.48767	D	0.000178	D	0.90783	0.7106	M	0.78049	2.395	0.31078	N	0.712296	D;D;D;D	0.69078	0.997;0.983;0.983;0.983	D;P;P;P	0.71656	0.974;0.496;0.496;0.496	D	0.89774	0.3956	10	0.52906	T	0.07	.	9.5071	0.39053	0.0702:0.0:0.7863:0.1435	.	415;523;530;530	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	V	77;530;523;415	ENSP00000441427:L77V;ENSP00000423660:L530V;ENSP00000421860:L523V;ENSP00000377886:L415V	ENSP00000377886:L415V	L	-	1	0	SH3TC2	148387900	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	1.864000	0.39469	2.873000	0.98535	0.563000	0.77884	CTC		0.542	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		58	170	0	0	0	0.139131	0	58	170				
FOXI1	2299	broad.mit.edu	37	5	169533097	169533097	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr5:169533097C>T	ENST00000306268.6	+	1	197	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W	FOXI1_ENST00000449804.2_Missense_Mutation_p.R46W			Q12951	FOXI1_HUMAN	forkhead box I1	46	Pro-rich.				embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R46W(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCCCTCAGCGGCCCTCCTT	0.687									Pendred syndrome																														uc003mai.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|central_nervous_system(1)	4						c.(136-138)CGG>TGG		forkhead box I1 isoform a							20.0	22.0	21.0					5																	169533097		2201	4298	6499	SO:0001583	missense	2299	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169533097C>T	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.136C>T	5.37:g.169533097C>T	ENSP00000304286:p.Arg46Trp					FOXI1_uc003maj.3_Missense_Mutation_p.R46W	p.R46W	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	181	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	46			Pro-rich.		Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	c.136C>T	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.488446	0.64074	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.94897	-3.47;-3.55	4.5	3.63	0.41609	.	0.068553	0.64402	D	0.000010	D	0.96892	0.8985	M	0.83384	2.64	0.49299	D	0.999779	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	D	0.96308	0.9226	10	0.49607	T	0.09	.	12.5348	0.56137	0.3021:0.6979:0.0:0.0	.	46;46	Q12951-2;Q12951	.;FOXI1_HUMAN	W	46	ENSP00000304286:R46W;ENSP00000415483:R46W	ENSP00000304286:R46W	R	+	1	2	FOXI1	169465675	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.119000	0.31258	0.882000	0.36016	-0.448000	0.05591	CGG		0.687	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		6	90	0	0	0	0.02938	0	6	90				
TLX3	30012	broad.mit.edu	37	5	170736693	170736693	+	Silent	SNP	A	A	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr5:170736693A>T	ENST00000296921.5	+	1	406	c.324A>T	c.(322-324)ctA>ctT	p.L108L		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	108					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.L108L(1)		central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGCGCGCTACCCGCCATGC	0.687			T	BCL11B	T-ALL																																Esophageal Squamous(33;43 807 3116 3348 30094)	Esophageal Squamous(33;43 807 3116 3348 30094)	uc003mbf.2		NA		Dom	yes		5	5q35.1	30012	T	"""T-cell leukemia, homeobox 3 (HOX11L2)"""			L	BCL11B		T-ALL		1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(322-324)CTA>CTT		T-cell leukemia homeobox 3							10.0	13.0	12.0					5																	170736693		2152	4219	6371	SO:0001819	synonymous_variant	30012					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:170736693A>T	AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"""Homeoboxes / ANTP class : NKL subclass"""	13532	protein-coding gene	gene with protein product		604640	"""homeo box 11-like 2"", ""T-cell leukemia, homeobox 3"""	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.324A>T	5.37:g.170736693A>T						uc003mbe.1_5'Flank	p.L108L	NM_021025	NP_066305	O43711	TLX3_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		1	406	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	108					Q96AD3	Silent	SNP	ENST00000296921.5	37	c.324A>T	CCDS34288.1																																																																																				0.687	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372076.3			11	49	0	0	0	0.080935	0	11	49				
HIST1H3E	8353	broad.mit.edu	37	6	26225700	26225700	+	Silent	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr6:26225700G>A	ENST00000360408.1	+	1	318	c.318G>A	c.(316-318)gaG>gaA	p.E106E		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	106					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)	p.E106E(1)		endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GGCTTTTCGAGGACACCAACC	0.577											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003nhb.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(316-318)GAG>GAA		histone cluster 1, H3f							93.0	93.0	93.0					6																	26225700		2203	4300	6503	SO:0001819	synonymous_variant	8353				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26225700G>A	M60746	CCDS4596.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196966	ENSG00000274750		"""Histones / Replication-dependent"""	4769	protein-coding gene	gene with protein product		602813	"""H3 histone family, member D"", ""histone 1, H3e"""	H3FD		1916825, 12408966	Standard	NM_003532		Approved	H3/d, H3.1	uc003nhc.4	P68431	OTTHUMG00000014434	ENST00000360408.1:c.318G>A	6.37:g.26225700G>A			OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	785	HIST1H3E_uc003nhc.3_Silent_p.E106E	p.E106E	NM_021018	NP_066298	P68431	H31_HUMAN			2	678	+		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)	106					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000360408.1	37	c.318G>A	CCDS4596.1																																																																																				0.577	HIST1H3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040097.1	NM_003532		8	109	0	0	0	0.058154	0	8	109				
GRM1	2911	broad.mit.edu	37	6	146720225	146720225	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr6:146720225C>T	ENST00000282753.1	+	7	2285	c.2050C>T	c.(2050-2052)Cgc>Tgc	p.R684C	GRM1_ENST00000507907.1_Missense_Mutation_p.R684C|GRM1_ENST00000492807.2_Missense_Mutation_p.R684C|GRM1_ENST00000355289.4_Missense_Mutation_p.R684C|GRM1_ENST00000392299.2_Missense_Mutation_p.R684C|GRM1_ENST00000361719.2_Missense_Mutation_p.R684C			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	684					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R684C(3)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TCGTATTGCACGCATCCTGGC	0.527																																							uc010khw.1		NA																	3	Substitution - Missense(3)	p.R684C(1)	lung(2)|central_nervous_system(1)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(2050-2052)CGC>TGC		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						209.0	200.0	203.0					6																	146720225		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146720225C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2050C>T	6.37:g.146720225C>T	ENSP00000282753:p.Arg684Cys					GRM1_uc010khv.1_Missense_Mutation_p.R684C|GRM1_uc003qll.2_Missense_Mutation_p.R684C|GRM1_uc011edz.1_Missense_Mutation_p.R684C|GRM1_uc011eea.1_Missense_Mutation_p.R684C	p.R684C	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	8	2520	+		Ovarian(120;0.0387)	684			Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.2050C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626940	0.87560	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54;-2.54	5.51	5.51	0.81932	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.94847	0.8335	M	0.85859	2.78	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	0.95111	0.8238	10	0.87932	D	0	.	19.4081	0.94656	0.0:1.0:0.0:0.0	.	684;684;684	F8W805;Q13255;Q13255-2	.;GRM1_HUMAN;.	C	684	ENSP00000354896:R684C;ENSP00000376119:R684C;ENSP00000424095:R684C;ENSP00000282753:R684C;ENSP00000347437:R684C;ENSP00000425599:R684C	ENSP00000282753:R684C	R	+	1	0	GRM1	146761918	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	5.968000	0.70413	2.604000	0.88044	0.585000	0.79938	CGC		0.527	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		105	103	0	0	0	0.139131	0	105	103				
CCDC129	223075	broad.mit.edu	37	7	31617968	31617968	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr7:31617968G>C	ENST00000407970.3	+	8	1128	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q	CCDC129_ENST00000451887.2_Missense_Mutation_p.E390Q|CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000409210.1_Missense_Mutation_p.E272Q	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	364								p.E364Q(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AACTCAGAAGGAGAACTTATT	0.507																																							uc003tcj.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1090-1092)GAG>CAG		coiled-coil domain containing 129							62.0	60.0	61.0					7																	31617968		1957	4140	6097	SO:0001583	missense	223075							g.chr7:31617968G>C	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1090G>C	7.37:g.31617968G>C	ENSP00000384416:p.Glu364Gln					CCDC129_uc011kad.1_Missense_Mutation_p.E374Q|CCDC129_uc003tci.1_Intron|CCDC129_uc011kae.1_Missense_Mutation_p.E390Q|CCDC129_uc003tck.1_Missense_Mutation_p.E272Q	p.E364Q	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			8	2083	+			364					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1090G>C	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527235	0.64860	.	.	ENSG00000180347	ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T	0.23147	2.16;2.14;1.92	5.4	3.56	0.40772	.	.	.	.	.	T	0.40094	0.1103	L	0.53249	1.67	0.23747	N	0.996954	D;D;D	0.69078	0.997;0.997;0.997	P;P;P	0.61132	0.884;0.884;0.813	T	0.10800	-1.0614	8	.	.	.	2.8389	10.7361	0.46126	0.1592:0.0:0.8408:0.0	.	390;374;364	F5H3V5;F5H2J8;Q6ZRS4	.;.;CC129_HUMAN	Q	364;390;374;272	ENSP00000384416:E364Q;ENSP00000395835:E390Q;ENSP00000387214:E272Q	.	E	+	1	0	CCDC129	31584493	1.000000	0.71417	0.797000	0.32132	0.161000	0.22273	3.107000	0.50329	1.408000	0.46895	0.591000	0.81541	GAG		0.507	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		16	48	0	0	0	0.038395	0	16	48				
ZNF679	168417	broad.mit.edu	37	7	63720697	63720697	+	Silent	SNP	A	A	G			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr7:63720697A>G	ENST00000421025.1	+	3	407	c.138A>G	c.(136-138)ttA>ttG	p.L46L	ZNF679_ENST00000255746.4_Silent_p.L46L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	46	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATGTGATGTTAGAGAACTACA	0.378																																							uc003tsx.2		NA																	0				skin(1)	1						c.(136-138)TTA>TTG		zinc finger protein 679							47.0	42.0	44.0					7																	63720697		692	1591	2283	SO:0001819	synonymous_variant	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63720697A>G	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.138A>G	7.37:g.63720697A>G							p.L46L	NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN			3	407	+			46			KRAB.			Silent	SNP	ENST00000421025.1	37	c.138A>G	CCDS47592.1																																																																																				0.378	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		3	130	0	0	0	0.115264	0	3	130				
ASL	435	broad.mit.edu	37	7	65554160	65554160	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr7:65554160C>T	ENST00000304874.9	+	12	1018	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	ASL_ENST00000380839.4_Missense_Mutation_p.R280W|ASL_ENST00000395331.3_Missense_Mutation_p.R306W|ASL_ENST00000395332.3_Missense_Mutation_p.R306W|AC068533.7_ENST00000450043.1_Missense_Mutation_p.A74V	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	306					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)	p.R306W(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	TGTGTTTGGGCGGGTGAGCAA	0.682																																							uc003tuo.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(916-918)CGG>TGG		argininosuccinate lyase isoform 1	L-Arginine(DB00125)						32.0	37.0	35.0					7																	65554160		2203	4300	6503	SO:0001583	missense	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65554160C>T		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.916C>T	7.37:g.65554160C>T	ENSP00000307188:p.Arg306Trp					ASL_uc003tup.2_Missense_Mutation_p.R306W|ASL_uc003tur.2_Missense_Mutation_p.R280W|ASL_uc003tuq.2_Missense_Mutation_p.R306W	p.R306W	NM_000048	NP_000039	P04424	ARLY_HUMAN			12	1027	+			306					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	ENST00000304874.9	37	c.916C>T	CCDS5531.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	25.7|25.7	4.661966|4.661966	0.88251|0.88251	.|.	.|.	ENSG00000249319|ENSG00000126522	ENST00000450043|ENST00000304874;ENST00000380839;ENST00000395332;ENST00000362000;ENST00000395331	.|D;D;D;D;D	.|0.99129	.|-5.46;-5.46;-5.46;-5.46;-5.46	4.83|4.83	4.83|4.83	0.62350|0.62350	.|L-Aspartase-like (1);	.|0.255719	.|0.37178	.|N	.|0.002209	D|D	0.97486|0.97486	0.9177|0.9177	L|L	0.52126|0.52126	1.63|1.63	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.27951	.|0.02;0.195;0.115	.|B;B;B	.|0.17722	.|0.015;0.012;0.019	D|D	0.96838|0.96838	0.9616|0.9616	5|10	.|0.87932	.|D	.|0	.|.	17.1854|17.1854	0.86865|0.86865	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|280;306;306	.|E9PE48;E7EMI0;P04424	.|.;.;ARLY_HUMAN	V|W	74|306;280;306;241;306	.|ENSP00000307188:R306W;ENSP00000370219:R280W;ENSP00000378741:R306W;ENSP00000354710:R241W;ENSP00000378740:R306W	.|ENSP00000307188:R306W	A|R	+|+	2|1	0|2	AC068533.7|ASL	65191595|65191595	0.972000|0.972000	0.33761|0.33761	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.763000|1.763000	0.38461|0.38461	2.532000|2.532000	0.85374|0.85374	0.555000|0.555000	0.69702|0.69702	GCG|CGG		0.682	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		17	63	0	0	0	0.0333	0	17	63				
DENND3	22898	broad.mit.edu	37	8	142176386	142176386	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr8:142176386G>A	ENST00000262585.2	+	12	1689	c.1411G>A	c.(1411-1413)Gtc>Atc	p.V471I	DENND3_ENST00000424248.1_Missense_Mutation_p.V419I|DENND3_ENST00000519811.1_Missense_Mutation_p.V551I	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	471					cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.V471I(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCGCATGGTGGTCAGCATGCC	0.602																																							uc003yvy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1411-1413)GTC>ATC		DENN/MADD domain containing 3							105.0	111.0	109.0					8																	142176386		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142176386G>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1411G>A	8.37:g.142176386G>A	ENSP00000262585:p.Val471Ile					DENND3_uc010mep.2_Missense_Mutation_p.V432I|DENND3_uc003yvz.1_Missense_Mutation_p.V155I	p.V471I	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		12	1689	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		471					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.1411G>A	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.75|15.75	2.924460|2.924460	0.52653|0.52653	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000262585;ENST00000424248;ENST00000519811	.|T;T;T	.|0.14144	.|2.96;2.53;2.95	4.94|4.94	3.8|3.8	0.43715|0.43715	.|.	.|0.491609	.|0.22892	.|N	.|0.054370	T|T	0.09905|0.09905	0.0243|0.0243	L|L	0.46157|0.46157	1.445|1.445	0.33218|0.33218	D|D	0.554313|0.554313	.|B;B;B	.|0.24618	.|0.013;0.107;0.013	.|B;B;B	.|0.21360	.|0.01;0.034;0.01	T|T	0.08330|0.08330	-1.0727|-1.0727	5|10	.|0.21540	.|T	.|0.41	-27.6009|-27.6009	4.095|4.095	0.09986|0.09986	0.2699:0.0:0.7301:0.0|0.2699:0.0:0.7301:0.0	.|.	.|551;419;471	.|E9PF32;A2RUS2-2;A2RUS2	.|.;.;DEND3_HUMAN	D|I	475|471;419;551	.|ENSP00000262585:V471I;ENSP00000410594:V419I;ENSP00000428714:V551I	.|ENSP00000262585:V471I	G|V	+|+	2|1	0|0	DENND3|DENND3	142245568|142245568	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	3.880000|3.880000	0.56145|0.56145	2.436000|2.436000	0.82500|0.82500	0.561000|0.561000	0.74099|0.74099	GGT|GTC		0.602	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		78	164	0	0	0	0.139131	0	78	164				
CDKN2A	1029	broad.mit.edu	37	9	21971209	21971209	+	Splice_Site	SNP	T	T	A			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr9:21971209T>A	ENST00000304494.5	-	2	421		c.e2-2		CDKN2A_ENST00000579122.1_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000579755.1_Splice_Site	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CATCATGACCTGCCAGAGAGA	0.667		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																													uc003zpk.2		17																	1340	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(1)	p.0?(1112)|p.?(19)|p.V28_V51del(1)	haematopoietic_and_lymphoid_tissue(277)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(91)|bone(74)|soft_tissue(57)|upper_aerodigestive_tract(52)|pleura(51)|oesophagus(49)|ovary(34)|kidney(30)|breast(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CS014762	CDKN2A	S		c.e2-1		cyclin-dependent kinase inhibitor 2A isoform 1							8.0	9.0	8.0					9																	21971209		2066	4135	6201	SO:0001630	splice_region_variant	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971209T>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.151-2A>T	9.37:g.21971209T>A		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Splice_Site|CDKN2A_uc010miu.2_Splice_Site|CDKN2A_uc003zpl.2_Splice_Site_p.G106_splice	p.V51_splice	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	363	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)						A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Splice_Site	SNP	ENST00000304494.5	37	c.151_splice	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.762210	0.49468	.	.	ENSG00000147889	ENST00000361570;ENST00000304494;ENST00000530628;ENST00000446177	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.022	0.71637	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDKN2A	21961209	1.000000	0.71417	0.993000	0.49108	0.550000	0.35303	7.014000	0.76380	2.181000	0.69327	0.454000	0.30748	.		0.667	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	Intron	8	4	0	0	0	0.09319	0	8	4				
SETX	23064	broad.mit.edu	37	9	135140265	135140265	+	Silent	SNP	G	G	T			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr9:135140265G>T	ENST00000224140.5	-	26	7577	c.7395C>A	c.(7393-7395)ctC>ctA	p.L2465L	SETX_ENST00000393220.1_Silent_p.L2432L|SETX_ENST00000477049.1_5'UTR|SETX_ENST00000372169.2_Silent_p.L2494L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2465					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.L2465L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GCACAGGCTTGAGTTTCAGAA	0.502																																							uc004cbk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(7393-7395)CTC>CTA		senataxin							100.0	104.0	103.0					9																	135140265		2203	4300	6503	SO:0001819	synonymous_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135140265G>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.7395C>A	9.37:g.135140265G>T						SETX_uc004cbj.2_Silent_p.L2113L|SETX_uc010mzt.2_Silent_p.L2051L	p.L2465L	NM_015046	NP_055861	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	26	7578	-		Myeloproliferative disorder(178;0.204)	2465					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	ENST00000224140.5	37	c.7395C>A	CCDS6947.1																																																																																				0.502	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046		5	165	1	0	5.50884e-06	0.09319	7.2158e-06	5	165				
NONO	4841	broad.mit.edu	37	X	70517741	70517741	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chrX:70517741A>C	ENST00000276079.8	+	9	1289	c.1084A>C	c.(1084-1086)Atg>Ctg	p.M362L	NONO_ENST00000373841.1_Missense_Mutation_p.M362L|NONO_ENST00000373856.3_Missense_Mutation_p.M362L|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000535149.1_Missense_Mutation_p.M273L	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	362	DBHS.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.M362L(1)	NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GCAAGAAGAAATGATGCGGCG	0.522			T	TFE3	papillary renal cancer																																		uc004dzo.2		NA		Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(2)	4						c.(1084-1086)ATG>CTG		non-POU domain containing, octamer-binding							90.0	68.0	75.0					X																	70517741		2203	4300	6503	SO:0001583	missense	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70517741A>C	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.1084A>C	X.37:g.70517741A>C	ENSP00000276079:p.Met362Leu					BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Missense_Mutation_p.M362L|NONO_uc004dzp.2_Missense_Mutation_p.M362L|NONO_uc011mpv.1_Missense_Mutation_p.M273L|NONO_uc004dzq.2_Missense_Mutation_p.M231L	p.M362L	NM_001145408	NP_001138880	Q15233	NONO_HUMAN			10	1794	+	Renal(35;0.156)		362			Potential.|DBHS.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	c.1084A>C	CCDS14410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	13.16|13.16	2.153832|2.153832	0.38021|0.38021	.|.	.|.	ENSG00000147140|ENSG00000147140	ENST00000418921|ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841	.|T;T;T;T	.|0.17054	.|2.32;2.3;2.3;2.3	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|0.036772	.|0.85682	.|D	.|0.000000	T|T	0.13756|0.13756	0.0333|0.0333	L|L	0.33293|0.33293	1|1	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.06405	.|0.002	T|T	0.08513|0.08513	-1.0718|-1.0718	5|10	.|0.17369	.|T	.|0.5	-10.613|-10.613	14.2443|14.2443	0.65978|0.65978	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|362	.|Q15233	.|NONO_HUMAN	N|L	223|273;362;362;362	.|ENSP00000441364:M273L;ENSP00000276079:M362L;ENSP00000362963:M362L;ENSP00000362947:M362L	.|ENSP00000276079:M362L	K|M	+|+	3|1	2|0	NONO|NONO	70434466|70434466	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	2.178000|2.178000	0.42519|0.42519	1.940000|1.940000	0.56252|0.56252	0.430000|0.430000	0.28490|0.28490	AAA|ATG		0.522	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		5	53	0	0	0	0.038147	0	5	53				
RBMX	27316	broad.mit.edu	37	X	135958803	135958803	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chrX:135958803A>G	ENST00000320676.7	-	5	554	c.400T>C	c.(400-402)Tat>Cat	p.Y134H	RBMX_ENST00000431446.3_Intron|RBMX_ENST00000496459.2_5'Flank|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000562646.1_Missense_Mutation_p.Y134H|RBMX_ENST00000565438.1_Missense_Mutation_p.Y6H|RBMX_ENST00000570135.1_5'UTR	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	134					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Y134H(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTCATGGAATATCCACCGTCA	0.383													a|||	1	0.000264901	0.0	0.0	3775	,	,		12143	0.0		0.0	False		,,,				2504	0.001						uc004fae.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(400-402)TAT>CAT		RNA binding motif protein, X-linked isoform 1							81.0	82.0	82.0					X																	135958803		2202	4300	6502	SO:0001583	missense	27316					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:135958803A>G		CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.400T>C	X.37:g.135958803A>G	ENSP00000359645:p.Tyr134His					RBMX_uc004fac.1_5'Flank|RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_Missense_Mutation_p.Y134H|RBMX_uc011mwg.1_Missense_Mutation_p.Y95H|RBMX_uc004faf.1_5'UTR|RBMX_uc010nsf.1_Missense_Mutation_p.Y95H|RBMX_uc004fag.1_Missense_Mutation_p.Y6H	p.Y134H	NM_002139	NP_002130	P38159	HNRPG_HUMAN			5	610	-	Acute lymphoblastic leukemia(192;0.000127)		134					B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	ENST00000320676.7	37	c.400T>C	CCDS14661.1	.	.	.	.	.	.	.	.	.	.	.	13.59	2.283956	0.40394	.	.	ENSG00000147274	ENST00000320676;ENST00000449161	T	0.78481	-1.18	5.39	5.39	0.77823	.	0.821617	0.10680	U	0.646549	T	0.82042	0.4951	L	0.56199	1.76	0.80722	D	1	D;B	0.56746	0.977;0.418	P;B	0.57960	0.83;0.092	T	0.77973	-0.2386	10	0.52906	T	0.07	.	8.2093	0.31473	0.908:0.0:0.092:0.0	.	134;121	P38159;Q8N8Y7	HNRPG_HUMAN;.	H	134;121	ENSP00000359645:Y134H	ENSP00000359645:Y134H	Y	-	1	0	RBMX	135786469	0.999000	0.42202	0.979000	0.43373	0.182000	0.23217	3.046000	0.49846	1.814000	0.52955	0.410000	0.27636	TAT		0.383	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1	NM_002139		24	281	0	0	0	0.083992	0	24	281				
TYSND1	219743	broad.mit.edu	37	10	71905929	71905931	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	CAG	CAG	-	-	CAG	CAG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr10:71905929_71905931delCAG	ENST00000287078.6	-	1	411_413	c.412_414delCTG	c.(412-414)ctgdel	p.L138del	TYSND1_ENST00000335494.5_In_Frame_Del_p.L138del|TYSND1_ENST00000494143.1_5'Flank	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	138					protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CCGGGCAGCTCAGCAGCAGCAGC	0.739																																							uc001jqr.2		NA																	0				large_intestine(1)	1						c.(412-414)CTGdel		trypsin domain containing 1 isoform a			,	28,3524		5,18,1753					,	3.1	1.0			5	76,7040		14,48,3496	no	coding,coding	TYSND1	NM_173555.2,NM_001040273.1	,	19,66,5249	A1A1,A1R,RR		1.068,0.7883,0.9749	,	,		104,10564				SO:0001651	inframe_deletion	219743				proteolysis	peroxisome	serine-type endopeptidase activity	g.chr10:71905929_71905931delCAG	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.412_414delCTG	10.37:g.71905938_71905940delCAG	ENSP00000287078:p.Leu138del					TYSND1_uc001jqq.2_Intron|TYSND1_uc001jqs.2_In_Frame_Del_p.L138del|TYSND1_uc001jqt.2_Intron	p.L138del	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN			1	566_568	-			138					Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	In_Frame_Del	DEL	ENST00000287078.6	37	c.412_414delCTG	CCDS31213.1																																																																																				0.739	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
SERPINA4	5267	broad.mit.edu	37	14	95035754	95035754	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr14:95035754delA	ENST00000557004.1	+	5	1527	c.1106delA	c.(1105-1107)gacfs	p.D369fs	SERPINA4_ENST00000555095.1_Frame_Shift_Del_p.D369fs|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Frame_Shift_Del_p.D369fs			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	369					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		GCCACCTTGGACGTGGATGAG	0.567																																							uc001ydk.2		NA																	0				ovary(3)|skin(1)	4						c.(1105-1107)GACfs		serine (or cysteine) proteinase inhibitor, clade							46.0	39.0	42.0					14																	95035754		2203	4300	6503	SO:0001589	frameshift_variant	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95035754delA	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.1106delA	14.37:g.95035754delA	ENSP00000450838:p.Asp369fs					SERPINA4_uc010avd.2_Frame_Shift_Del_p.D406fs|SERPINA4_uc001ydl.2_Frame_Shift_Del_p.D369fs	p.D369fs	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	5	1172	+			369					Q53XB5|Q86TR9|Q96BZ5	Frame_Shift_Del	DEL	ENST00000557004.1	37	c.1106delA	CCDS9927.1																																																																																				0.567	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		16	33	NA	NA	NA	NA	NA	16	33	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18043881	18043915	+	Frame_Shift_Del	DEL	CCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	CCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	-	rs200146361		TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	CCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	CCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	-	-	CCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	CCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr17:18043881_18043915delCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	ENST00000205890.5	+	20	5600_5634	c.5262_5296delCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	c.(5260-5298)cgcctgggcaagagcagctccgtcactcggctctacaagfs	p.LGKSSSVTRLYK1755fs	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1755	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCCTCAGCGCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACAAGGCGCACAC	0.664											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010vxh.1		NA																	0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(5260-5298)CGCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACAAGfs		myosin XV																																				SO:0001589	frameshift_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18043881_18043915delCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5262_5296delCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	17.37:g.18043881_18043915delCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	ENSP00000205890:p.Leu1755fs		OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	722		p.R1754fs	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			19	5600_5634	+	all_neural(463;0.228)		1754_1766			Myosin head-like.		B4DFC7	Frame_Shift_Del	DEL	ENST00000205890.5	37	c.5262_5296delCCTGGGCAAGAGCAGCTCCGTCACTCGGCTCTACA	CCDS42271.1																																																																																				0.664	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		16	158	NA	NA	NA	NA	NA	16	158	---	---	---	---
FGF10	2255	broad.mit.edu	37	5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-	rs576181814		TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	AGC	AGC	-	-	AGC	AGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr5:44388715_44388717delAGC	ENST00000264664.4	-	1	182_184	c.68_70delGCT	c.(67-72)tgcttt>ttt	p.C23del	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	23					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537																																							uc003jog.1		NA																	0				lung(3)	3						c.(67-72)TGCTTT>TTT		fibroblast growth factor 10 precursor																																				SO:0001651	inframe_deletion	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44388715_44388717delAGC		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.68_70delGCT	5.37:g.44388724_44388726delAGC	ENSP00000264664:p.Cys23del						p.C23del	NM_004465	NP_004456	O15520	FGF10_HUMAN			1	68_70	-	Lung NSC(6;1.12e-06)		23					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	In_Frame_Del	DEL	ENST00000264664.4	37	c.68_70delGCT	CCDS3950.1																																																																																				0.537	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		8	163	NA	NA	NA	NA	NA	8	163	---	---	---	---
KIF13A	63971	broad.mit.edu	37	6	17764530	17764531	+	Frame_Shift_Del	DEL	CT	CT	-	rs9371018	byFrequency	TCGA-05-4426-01A-01D-1265-08	TCGA-05-4426-10A-01D-1265-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	117c6aff-8899-48f4-9328-746207d38eff	d5a2ce1f-e12e-47da-acea-50aab3500ddb	g.chr6:17764530_17764531delCT	ENST00000259711.6	-	39	5333_5334	c.5228_5229delAG	c.(5227-5229)gagfs	p.E1743fs	KIF13A_ENST00000378826.2_Frame_Shift_Del_p.E1708fs|KIF13A_ENST00000378816.5_Frame_Shift_Del_p.E1708fs|KIF13A_ENST00000378814.5_Frame_Shift_Del_p.E1695fs|KIF13A_ENST00000378843.2_Frame_Shift_Del_p.E1695fs	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1743					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AATCTTTTCCCTCTGACACTCC	0.5																																							uc003ncg.3		NA																	0				large_intestine(2)|ovary(2)	4						c.(5227-5229)GAGfs		kinesin family member 13A isoform a																																				SO:0001589	frameshift_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17764530_17764531delCT	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.5228_5229delAG	6.37:g.17764532_17764533delCT	ENSP00000259711:p.Glu1743fs					KIF13A_uc003ncf.2_Frame_Shift_Del_p.E1695fs|KIF13A_uc003nch.3_Frame_Shift_Del_p.E1708fs|KIF13A_uc003nci.3_Frame_Shift_Del_p.E1695fs|KIF13A_uc003nce.1_Frame_Shift_Del_p.E294fs	p.E1743fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		39	5333_5334	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1743					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Frame_Shift_Del	DEL	ENST00000259711.6	37	c.5228_5229delAG	CCDS47381.1																																																																																				0.500	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			21	44	NA	NA	NA	NA	NA	21	44	---	---	---	---
