#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
EXOSC10	5394	broad.mit.edu	37	1	11151600	11151600	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:11151600G>A	ENST00000376936.4	-	4	476	c.427C>T	c.(427-429)Cct>Tct	p.P143S	EXOSC10_ENST00000304457.7_Missense_Mutation_p.P143S|EXOSC10_ENST00000544779.1_Missense_Mutation_p.P143S	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	143					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P143S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		AAGCCGGCAGGGAGGACAGGC	0.463																																					Colon(179;105 1987 14326 27364 29542)	Colon(179;105 1987 14326 27364 29542)	uc001asa.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(427-429)CCT>TCT		exosome component 10 isoform 1							81.0	81.0	81.0					1																	11151600		2203	4300	6503	SO:0001583	missense	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11151600G>A	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.427C>T	1.37:g.11151600G>A	ENSP00000366135:p.Pro143Ser					EXOSC10_uc001asb.2_Missense_Mutation_p.P143S|EXOSC10_uc009vmy.1_Missense_Mutation_p.P143S	p.P143S	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	4	477	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	143					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.427C>T	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.479003	0.63849	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	L	0.47016	1.485	0.80722	D	1	B;B	0.34015	0.371;0.435	B;B	0.32211	0.142;0.067	T	0.51505	-0.8697	9	0.16420	T	0.52	-19.9784	19.5478	0.95307	0.0:0.0:1.0:0.0	.	143;143	Q01780-2;Q01780	.;EXOSX_HUMAN	S	143	.	ENSP00000307307:P143S	P	-	1	0	EXOSC10	11074187	1.000000	0.71417	0.990000	0.47175	0.910000	0.53928	9.022000	0.93678	2.868000	0.98415	0.555000	0.69702	CCT		0.463	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		10	51	0	0	0	0.008291	0	10	51				
AADACL4	343066	broad.mit.edu	37	1	12711299	12711299	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:12711299C>T	ENST00000376221.1	+	2	326	c.326C>T	c.(325-327)tCc>tTc	p.S109F		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	109						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.S109F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GCAGCATCCTCCAGACCCCGG	0.562																																							uc001auf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(325-327)TCC>TTC		arylacetamide deacetylase-like 4							62.0	61.0	61.0					1																	12711299		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12711299C>T		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.326C>T	1.37:g.12711299C>T	ENSP00000365395:p.Ser109Phe						p.S109F	NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	2	326	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	109			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000376221.1	37	c.326C>T	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.334343	0.60853	.	.	ENSG00000204518	ENST00000376221	T	0.61158	0.13	5.01	3.05	0.35203	.	2.815340	0.01428	N	0.014623	T	0.69663	0.3136	L	0.54323	1.7	0.09310	N	1	D	0.59357	0.985	P	0.57776	0.827	T	0.49360	-0.8948	10	0.66056	D	0.02	-16.1079	8.7479	0.34598	0.0:0.7613:0.1512:0.0875	.	109	Q5VUY2	ADCL4_HUMAN	F	109	ENSP00000365395:S109F	ENSP00000365395:S109F	S	+	2	0	AADACL4	12633886	0.000000	0.05858	0.002000	0.10522	0.897000	0.52465	-1.809000	0.01731	1.048000	0.40298	0.462000	0.41574	TCC		0.562	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		21	52	0	0	0	0.014323	0	21	52				
PADI4	23569	broad.mit.edu	37	1	17668890	17668890	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:17668890G>A	ENST00000375448.4	+	8	954	c.928G>A	c.(928-930)Gcg>Acg	p.A310T	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	310					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.A310T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	GGAGGTGTACGCGTGCAGGTG	0.627																																							uc001baj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(928-930)GCG>ACG		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						36.0	35.0	35.0					1																	17668890		2203	4300	6503	SO:0001583	missense	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17668890G>A	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.928G>A	1.37:g.17668890G>A	ENSP00000364597:p.Ala310Thr					PADI4_uc009vpc.2_Missense_Mutation_p.A310T	p.A310T	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	8	956	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	310					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	37	c.928G>A	CCDS180.1	.	.	.	.	.	.	.	.	.	.	g	16.45	3.127087	0.56721	.	.	ENSG00000159339	ENST00000375448	T	0.22743	1.94	4.97	4.97	0.65823	Protein-arginine deiminase, C-terminal (1);	0.298942	0.31859	N	0.006960	T	0.10981	0.0268	N	0.12182	0.205	0.26974	N	0.965524	P;B	0.43412	0.806;0.026	B;B	0.32289	0.143;0.021	T	0.13255	-1.0516	10	0.44086	T	0.13	-10.7464	15.0236	0.71650	0.0:0.0:1.0:0.0	.	310;310	A8K392;Q9UM07	.;PADI4_HUMAN	T	310	ENSP00000364597:A310T	ENSP00000364597:A310T	A	+	1	0	PADI4	17541477	1.000000	0.71417	1.000000	0.80357	0.492000	0.33523	4.752000	0.62176	2.312000	0.78011	0.555000	0.69702	GCG		0.627	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		8	21	0	0	0	0.00308	0	8	21				
CSMD2	114784	broad.mit.edu	37	1	34006261	34006261	+	Silent	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:34006261C>T	ENST00000373381.4	-	60	9671	c.9495G>A	c.(9493-9495)ggG>ggA	p.G3165G		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3139	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G3021G(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCACCACCTTCCCATTGGGGA	0.602																																							uc001bxn.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(9061-9063)GGG>GGA		CUB and Sushi multiple domains 2							92.0	82.0	85.0					1																	34006261		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34006261C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9495G>A	1.37:g.34006261C>T						CSMD2_uc001bxm.1_Silent_p.G3165G	p.G3021G	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			59	9092	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3021			Sushi 23.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.9063G>A																																																																																					0.602	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		27	88	0	0	0	0.005443	0	27	88				
HMGB4	127540	broad.mit.edu	37	1	34330081	34330081	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:34330081C>T	ENST00000522796.1	+	4	2194	c.289C>T	c.(289-291)Cca>Tca	p.P97S	HMGB4_ENST00000519684.1_Missense_Mutation_p.P97S|CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR			Q8WW32	HMGB4_HUMAN	high mobility group box 4	97						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P97S(1)		NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CAGACGGCCTCCATCATCCTT	0.542																																							uc001bxp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(289-291)CCA>TCA		HMG2 like isoform 1							119.0	131.0	127.0					1																	34330081		2203	4300	6503	SO:0001583	missense	127540					nucleus	DNA binding	g.chr1:34330081C>T		CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"""High-mobility group / Canonical"""	24954	protein-coding gene	gene with protein product			"""high-mobility group box 4"""				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.289C>T	1.37:g.34330081C>T	ENSP00000430919:p.Pro97Ser					CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_Missense_Mutation_p.P23S	p.P97S	NM_145205	NP_660206	Q8WW32	HMGB4_HUMAN			2	2032	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	97					B2R4X7|Q0QWA4	Missense_Mutation	SNP	ENST00000522796.1	37	c.289C>T	CCDS30668.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817804	0.90790	.	.	ENSG00000176256	ENST00000519684;ENST00000522796	D;D	0.94184	-3.37;-3.37	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.95752	0.8618	M	0.73319	2.225	0.50813	D	0.999894	D	0.64830	0.994	D	0.63488	0.915	D	0.95267	0.8374	10	0.56958	D	0.05	.	14.9446	0.71020	0.0:1.0:0.0:0.0	.	97	B2R4X7	.	S	97	ENSP00000429214:P97S;ENSP00000430919:P97S	ENSP00000429214:P97S	P	+	1	0	HMGB4	34102668	0.991000	0.36638	0.912000	0.35992	0.899000	0.52679	5.723000	0.68492	2.907000	0.99374	0.609000	0.83330	CCA		0.542	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375773.1	NM_145205		26	131	0	0	0	0.004656	0	26	131				
CTPS1	1503	broad.mit.edu	37	1	41456895	41456895	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:41456895G>A	ENST00000372621.4	+	6	1122	c.614G>A	c.(613-615)aGa>aAa	p.R205K	CTPS1_ENST00000543104.1_Missense_Mutation_p.R212K|CTPS1_ENST00000372616.1_Missense_Mutation_p.R205K|CTPS1_ENST00000541520.1_5'UTR	NM_001905.2	NP_001896.2			CTP synthase 1									p.R205K(2)		endometrium(3)|lung(10)	13						CGGGAACTTAGAGGACTTGGG	0.388																																							uc001cgk.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(613-615)AGA>AAA		CTP synthase	L-Glutamine(DB00130)						99.0	103.0	102.0					1																	41456895		2203	4300	6503	SO:0001583	missense	1503				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding	g.chr1:41456895G>A	BC009408	CCDS459.1	1p34.1	2012-05-02	2012-05-02	2012-05-02	ENSG00000171793	ENSG00000171793	6.3.4.2		2519	protein-coding gene	gene with protein product		123860	"""CTP synthase"""	CTPS		1783378	Standard	XM_005270536		Approved		uc001cgk.4	P17812	OTTHUMG00000005712	ENST00000372621.4:c.614G>A	1.37:g.41456895G>A	ENSP00000361704:p.Arg205Lys					CTPS_uc010ojo.1_5'UTR|CTPS_uc010ojp.1_Missense_Mutation_p.R212K|CTPS_uc001cgl.3_Missense_Mutation_p.R205K|CTPS_uc010ojq.1_Missense_Mutation_p.R49K	p.R205K	NM_001905	NP_001896	P17812	PYRG1_HUMAN			6	1122	+	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	205						Missense_Mutation	SNP	ENST00000372621.4	37	c.614G>A	CCDS459.1	.	.	.	.	.	.	.	.	.	.	G	36	5.687834	0.96784	.	.	ENSG00000171793	ENST00000372621;ENST00000543104;ENST00000372616	T;T	0.52754	0.65;0.65	6.17	6.17	0.99709	CTP synthase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81451	0.4825	H	0.98027	4.13	0.80722	D	1	P;D	0.69078	0.878;0.997	P;D	0.70227	0.713;0.968	D	0.87120	0.2190	10	0.72032	D	0.01	.	19.4432	0.94831	0.0:0.0:1.0:0.0	.	212;205	B7Z9C4;P17812	.;PYRG1_HUMAN	K	205;212;205	ENSP00000361704:R205K;ENSP00000361699:R205K	ENSP00000361699:R205K	R	+	2	0	CTPS	41229482	1.000000	0.71417	0.994000	0.49952	0.975000	0.68041	9.379000	0.97198	2.941000	0.99782	0.655000	0.94253	AGA		0.388	CTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015629.1	NM_001905		14	51	0	0	0	0.004007	0	14	51				
CC2D1B	200014	broad.mit.edu	37	1	52824928	52824928	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:52824928T>A	ENST00000371586.2	-	10	1258	c.1120A>T	c.(1120-1122)Acc>Tcc	p.T374S	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.T374S	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	374						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.T374S(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTACCTGGGGTTGCTGGGACG	0.627																																							uc001ctq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1120-1122)ACC>TCC		coiled-coil and C2 domain containing 1B							40.0	44.0	43.0					1																	52824928		2203	4300	6503	SO:0001583	missense	200014							g.chr1:52824928T>A	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1120A>T	1.37:g.52824928T>A	ENSP00000360642:p.Thr374Ser					CC2D1B_uc001ctr.2_5'Flank|CC2D1B_uc001cts.2_Missense_Mutation_p.T65S	p.T374S	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN			10	1258	-			374					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	c.1120A>T	CCDS30714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.811|4.811	0.150836|0.150836	0.09185|0.09185	.|.	.|.	ENSG00000154222|ENSG00000154222	ENST00000438021;ENST00000450942|ENST00000371586;ENST00000284376;ENST00000371573	.|T;T	.|0.19250	.|2.16;2.16	4.3|4.3	-0.82|-0.82	0.10826|0.10826	.|.	.|0.641639	.|0.14881	.|N	.|0.292978	T|T	0.10809|0.10809	0.0264|0.0264	N|N	0.24115|0.24115	0.695|0.695	0.40004|0.40004	D|D	0.975207|0.975207	.|B;B	.|0.17038	.|0.02;0.008	.|B;B	.|0.17433	.|0.018;0.011	T|T	0.29579|0.29579	-1.0007|-1.0007	5|10	.|0.12766	.|T	.|0.61	-2.3243|-2.3243	7.4446|7.4446	0.27203|0.27203	0.0:0.451:0.0:0.549|0.0:0.451:0.0:0.549	.|.	.|160;374	.|Q5T0G1;Q5T0F9	.|.;C2D1B_HUMAN	H|S	160;293|374;374;288	.|ENSP00000360642:T374S;ENSP00000284376:T374S	.|ENSP00000284376:T374S	Q|T	-|-	3|1	2|0	CC2D1B|CC2D1B	52597516|52597516	0.167000|0.167000	0.22975|0.22975	0.240000|0.240000	0.24138|0.24138	0.504000|0.504000	0.33889|0.33889	-0.501000|-0.501000	0.06398|0.06398	-0.237000|-0.237000	0.09739|0.09739	0.529000|0.529000	0.55759|0.55759	CAA|ACC		0.627	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449		19	44	0	0	0	0.006122	0	19	44				
PTGFR	5737	broad.mit.edu	37	1	78959135	78959135	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:78959135A>T	ENST00000370757.3	+	2	944	c.707A>T	c.(706-708)cAg>cTg	p.Q236L	PTGFR_ENST00000370756.3_Missense_Mutation_p.Q236L|PTGFR_ENST00000370758.1_Missense_Mutation_p.Q236L	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	236					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)	p.Q236L(2)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	AAAAGTCAGCAGCACAGACAA	0.413																																							uc001din.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|skin(1)	6						c.(706-708)CAG>CTG		prostaglandin F receptor isoform a precursor	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						59.0	59.0	59.0					1																	78959135		2203	4300	6503	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:78959135A>T	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.707A>T	1.37:g.78959135A>T	ENSP00000359793:p.Gln236Leu					PTGFR_uc001dim.2_Missense_Mutation_p.Q236L	p.Q236L	NM_000959	NP_000950	P43088	PF2R_HUMAN		Colorectal(170;0.248)	2	973	+			236			Cytoplasmic (Potential).		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.707A>T	CCDS686.1	.	.	.	.	.	.	.	.	.	.	A	17.12	3.307428	0.60305	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.36878	1.23;1.23;1.23	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.188525	0.47852	D	0.000207	T	0.16342	0.0393	N	0.22421	0.69	0.53005	D	0.999967	B;P	0.36465	0.175;0.554	B;B	0.39258	0.112;0.295	T	0.05801	-1.0863	10	0.31617	T	0.26	-5.0789	14.2304	0.65887	1.0:0.0:0.0:0.0	.	236;236	P43088;P43088-2	PF2R_HUMAN;.	L	236	ENSP00000359794:Q236L;ENSP00000359793:Q236L;ENSP00000359792:Q236L	ENSP00000359792:Q236L	Q	+	2	0	PTGFR	78731723	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.087000	0.64480	2.308000	0.77769	0.533000	0.62120	CAG		0.413	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		21	64	0	0	0	0.004656	0	21	64				
SYT6	148281	broad.mit.edu	37	1	114680333	114680333	+	Silent	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:114680333C>A	ENST00000610222.1	-	3	1001	c.855G>T	c.(853-855)gtG>gtT	p.V285V	SYT6_ENST00000609117.1_Silent_p.V200V|SYT6_ENST00000393296.1_Silent_p.V285V|SYT6_ENST00000369547.1_Silent_p.V200V|SYT6_ENST00000607941.1_Silent_p.V200V			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	285	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.V200V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTGCGGTGCACCCGGGTCT	0.552																																							uc001eev.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(598-600)GTG>GTT		synaptotagmin VI							131.0	123.0	126.0					1																	114680333		2203	4300	6503	SO:0001819	synonymous_variant	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114680333C>A		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.855G>T	1.37:g.114680333C>A							p.V200V	NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	850	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	285			Cytoplasmic (Potential).|C2 1.		B1AMB8|B3KPK1	Silent	SNP	ENST00000610222.1	37	c.600G>T																																																																																					0.552	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		20	40	1	0	6.44725e-10	0.014323	8.32044e-10	20	40				
PRKAB2	5565	broad.mit.edu	37	1	146639438	146639438	+	Silent	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:146639438C>T	ENST00000254101.3	-	3	369	c.231G>A	c.(229-231)cgG>cgA	p.R77R	PRKAB2_ENST00000425272.2_Intron	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	77					carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)|regulation of fatty acid biosynthetic process (GO:0042304)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)	p.R77R(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)	TAACAGTGGGCCGGGCCTGCT	0.522																																							uc001epe.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(1)	3						c.(229-231)CGG>CGA		AMP-activated protein kinase beta 2	Adenosine monophosphate(DB00131)						204.0	209.0	207.0					1																	146639438		2203	4300	6503	SO:0001819	synonymous_variant	5565				carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm		g.chr1:146639438C>T	BC053610	CCDS925.1	1q21.2	2008-02-05			ENSG00000131791	ENSG00000131791			9379	protein-coding gene	gene with protein product	"""AMPK beta 2"""	602741				8557660	Standard	NM_005399		Approved		uc001epe.3	O43741	OTTHUMG00000014032	ENST00000254101.3:c.231G>A	1.37:g.146639438C>T						PRKAB2_uc010ozm.1_Intron|PRKAB2_uc010ozn.1_Intron|PRKAB2_uc009wjf.1_Silent_p.R77R	p.R77R	NM_005399	NP_005390	O43741	AAKB2_HUMAN			3	376	-	all_hematologic(923;0.0487)		77					A8K9V5|B4DH06|Q5VXY0	Silent	SNP	ENST00000254101.3	37	c.231G>A	CCDS925.1																																																																																				0.522	PRKAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039471.1	NM_005399		63	333	0	0	0	0.01441	0	63	333				
RIT1	6016	broad.mit.edu	37	1	155874261	155874261	+	Missense_Mutation	SNP	C	C	A	rs483352822		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:155874261C>A	ENST00000368323.3	-	5	474	c.270G>T	c.(268-270)atG>atT	p.M90I	RIT1_ENST00000539040.1_Missense_Mutation_p.M54I|RIT1_ENST00000368322.3_Missense_Mutation_p.M107I	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	90			M -> I (probable disease-associated mutation found in patients with features of Noonan syndrome). {ECO:0000269|PubMed:23791108}.		GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)	p.M90I(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CTCCTGCCCTCATATACTGGT	0.433																																							uc001fmh.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(268-270)ATG>ATT		Ras-like without CAAX 1							97.0	81.0	86.0					1																	155874261		2203	4300	6503	SO:0001583	missense	6016				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr1:155874261C>A	AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.270G>T	1.37:g.155874261C>A	ENSP00000357306:p.Met90Ile					RIT1_uc010pgr.1_Missense_Mutation_p.M54I	p.M90I	NM_006912	NP_008843	Q92963	RIT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)		5	457	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		90					B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	ENST00000368323.3	37	c.270G>T	CCDS1123.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605796	0.87157	.	.	ENSG00000143622	ENST00000368323;ENST00000539040;ENST00000368322	T;T;T	0.76186	-1.0;-1.0;-1.0	5.76	5.76	0.90799	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.70527	0.3234	N	0.05619	-0.005	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.77739	-0.2475	10	0.54805	T	0.06	.	19.5715	0.95421	0.0:1.0:0.0:0.0	.	90	Q92963	RIT1_HUMAN	I	90;54;107	ENSP00000357306:M90I;ENSP00000441950:M54I;ENSP00000357305:M107I	ENSP00000357305:M107I	M	-	3	0	RIT1	154140885	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.346000	0.72999	2.733000	0.93635	0.467000	0.42956	ATG		0.433	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1	NM_006912		21	47	1	0	6.44725e-10	0.014323	8.32044e-10	21	47				
PAPPA2	60676	broad.mit.edu	37	1	176811543	176811543	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:176811543C>A	ENST00000367662.3	+	23	6493	c.5329C>A	c.(5329-5331)Ctg>Atg	p.L1777M		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1777					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.L1777M(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGACTGTGACCTGGATGAGTG	0.488																																							uc001gkz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(5329-5331)CTG>ATG		pappalysin 2 isoform 1							104.0	103.0	103.0					1																	176811543		1925	4144	6069	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176811543C>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.5329C>A	1.37:g.176811543C>A	ENSP00000356634:p.Leu1777Met					PAPPA2_uc009www.2_RNA|uc001gla.1_5'Flank	p.L1777M	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			23	6493	+			1777					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.5329C>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414023	0.42817	.	.	ENSG00000116183	ENST00000367662	T	0.01705	4.68	5.63	1.46	0.22682	.	0.465546	0.20532	N	0.090497	T	0.01454	0.0047	N	0.24115	0.695	0.50039	D	0.999849	P	0.41393	0.748	B	0.39738	0.308	T	0.68168	-0.5480	10	0.46703	T	0.11	0.2549	5.3224	0.15889	0.0:0.5285:0.135:0.3365	.	1777	Q9BXP8	PAPP2_HUMAN	M	1777	ENSP00000356634:L1777M	ENSP00000356634:L1777M	L	+	1	2	PAPPA2	175078166	1.000000	0.71417	0.518000	0.27811	0.964000	0.63967	1.334000	0.33827	0.003000	0.14656	-0.137000	0.14449	CTG		0.488	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			17	32	1	0	5.26018e-13	0.012319	7.28039e-13	17	32				
BRINP2	57795	broad.mit.edu	37	1	177249934	177249934	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:177249934G>A	ENST00000361539.4	+	8	1934	c.1622G>A	c.(1621-1623)tGg>tAg	p.W541*	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	541					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.W541*(1)									CTGGGCAGCTGGTTTGACCCT	0.552																																							uc001glf.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1621-1623)TGG>TAG		family with sequence similarity 5, member B							46.0	38.0	41.0					1																	177249934		2203	4300	6503	SO:0001587	stop_gained	57795					extracellular region		g.chr1:177249934G>A		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1622G>A	1.37:g.177249934G>A	ENSP00000354481:p.Trp541*					FAM5B_uc001glg.2_Nonsense_Mutation_p.W436*	p.W541*	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	1934	+			541					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Nonsense_Mutation	SNP	ENST00000361539.4	37	c.1622G>A	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	G	39	7.587011	0.98374	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.6268	18.6898	0.91578	0.0:0.0:1.0:0.0	.	.	.	.	X	294;541	.	ENSP00000354481:W541X	W	+	2	0	FAM5B	175516557	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.731000	0.98807	2.514000	0.84764	0.313000	0.20887	TGG		0.552	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		4	30	0	0	0	0.009096	0	4	30				
KIF21B	23046	broad.mit.edu	37	1	200969648	200969648	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:200969648C>A	ENST00000422435.2	-	11	1871	c.1555G>T	c.(1555-1557)Gct>Tct	p.A519S	KIF21B_ENST00000461742.2_Missense_Mutation_p.A519S|KIF21B_ENST00000332129.2_Missense_Mutation_p.A519S|KIF21B_ENST00000360529.5_Missense_Mutation_p.A519S	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	519					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A519S(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCTGGAGAAGCACCCAGGGAG	0.657																																							uc001gvs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(1555-1557)GCT>TCT		kinesin family member 21B							36.0	45.0	42.0					1																	200969648		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200969648C>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1555G>T	1.37:g.200969648C>A	ENSP00000411831:p.Ala519Ser					KIF21B_uc001gvr.1_Missense_Mutation_p.A519S|KIF21B_uc009wzl.1_Missense_Mutation_p.A519S|KIF21B_uc010ppn.1_Missense_Mutation_p.A519S	p.A519S	NM_017596	NP_060066	O75037	KI21B_HUMAN			11	1872	-			519			Potential.		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.1555G>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	0.070	-1.203550	0.01581	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.70282	-0.12;-0.43;-0.47;-0.17	5.17	2.12	0.27331	.	1.153160	0.06519	N	0.739300	T	0.35364	0.0929	N	0.00841	-1.15	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.34254	-0.9836	10	0.07325	T	0.83	.	5.8473	0.18673	0.4657:0.3859:0.0:0.1484	.	519;519;519;519	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	S	519	ENSP00000328494:A519S;ENSP00000353724:A519S;ENSP00000433808:A519S;ENSP00000411831:A519S	ENSP00000328494:A519S	A	-	1	0	KIF21B	199236271	0.031000	0.19500	0.019000	0.16419	0.518000	0.34316	0.540000	0.23191	0.529000	0.28599	0.514000	0.50259	GCT		0.657	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		21	88	1	0	9.95505e-16	0.014323	1.42964e-15	21	88				
PPFIA4	8497	broad.mit.edu	37	1	203020922	203020922	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:203020922G>C	ENST00000447715.2	+	18	1990	c.1549G>C	c.(1549-1551)Gtg>Ctg	p.V517L	PPFIA4_ENST00000272198.6_Missense_Mutation_p.V7L|PPFIA4_ENST00000295706.4_Missense_Mutation_p.V7L|PPFIA4_ENST00000414050.2_Missense_Mutation_p.V220L|PPFIA4_ENST00000599966.1_Missense_Mutation_p.V7L|PPFIA4_ENST00000367240.2_Missense_Mutation_p.V492L			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	517					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)		p.V7L(1)|p.V664L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGCAGCAGACGTGCGGTTCTC	0.637																																							uc001gyz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(19-21)GTG>CTG		protein tyrosine phosphatase, receptor type, f							29.0	33.0	31.0					1																	203020922		2147	4246	6393	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203020922G>C	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.1549G>C	1.37:g.203020922G>C	ENSP00000402576:p.Val517Leu					PPFIA4_uc009xaj.2_Missense_Mutation_p.V664L|PPFIA4_uc010pqf.1_Missense_Mutation_p.V220L|PPFIA4_uc001gza.2_Missense_Mutation_p.V7L	p.V7L	NM_015053	NP_055868	O75335	LIPA4_HUMAN			1	612	+			7					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.19G>C		.	.	.	.	.	.	.	.	.	.	G	5.086	0.201491	0.09652	.	.	ENSG00000143847	ENST00000367240;ENST00000447715;ENST00000295706;ENST00000414050;ENST00000272198	T;T;T;T;T	0.20200	2.45;2.17;2.09;2.13;2.1	4.62	-1.24	0.09435	.	0.424399	0.16984	N	0.191574	T	0.04952	0.0133	N	0.01576	-0.805	0.31404	N	0.676275	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.08055	0.001;0.0;0.003;0.001	T	0.45687	-0.9244	10	0.02654	T	1	-3.9578	7.4379	0.27166	0.1861:0.5287:0.2852:0.0	.	220;517;7;7	B4DIS5;B1N949;O75335-2;O75335	.;.;.;LIPA4_HUMAN	L	492;517;7;220;7	ENSP00000356209:V492L;ENSP00000402576:V517L;ENSP00000295706:V7L;ENSP00000400379:V220L;ENSP00000272198:V7L	ENSP00000272198:V7L	V	+	1	0	PPFIA4	201287545	0.960000	0.32886	0.340000	0.25575	0.953000	0.61014	1.767000	0.38501	-0.067000	0.12976	0.561000	0.74099	GTG		0.637	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		6	24	0	0	0	0.001168	0	6	24				
CR1	1378	broad.mit.edu	37	1	207737275	207737275	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:207737275C>T	ENST00000367049.4	+	22	3653	c.3653C>T	c.(3652-3654)cCc>cTc	p.P1218L	CR1_ENST00000400960.2_Missense_Mutation_p.P768L|CR1_ENST00000367052.1_Intron|CR1_ENST00000367053.1_Missense_Mutation_p.P768L|CR1_ENST00000367051.1_Missense_Mutation_p.P768L|RP11-78B10.2_ENST00000597497.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	768	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.P1218L(1)|p.P773L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AACTTTTCACCCGGGCAGGAA	0.577																																							uc001hfy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2302-2304)CCC>CTC		complement receptor 1 isoform F precursor							31.0	58.0	52.0					1																	207737275		1062	3980	5042	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207737275C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.3653C>T	1.37:g.207737275C>T	ENSP00000356016:p.Pro1218Leu					CR1_uc009xcl.1_Intron|CR1_uc001hfx.2_Missense_Mutation_p.P1218L|CR1_uc009xck.1_Intron	p.P768L	NM_000573	NP_000564	P17927	CR1_HUMAN			14	2443	+			768			Sushi 12.|Extracellular (Potential).		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.2303C>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	c	4.496	0.091939	0.08632	.	.	ENSG00000203710	ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	3.12	3.12	0.35913	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.66587	0.2804	L	0.43646	1.37	0.09310	N	1	D;D	0.62365	0.979;0.991	P;D	0.71414	0.892;0.973	T	0.54549	-0.8277	9	0.10636	T	0.68	.	10.466	0.44607	0.0:1.0:0.0:0.0	.	768;1218	P17927;E9PDY4	CR1_HUMAN;.	L	768;768;768;1218	ENSP00000356018:P768L;ENSP00000356020:P768L;ENSP00000383744:P768L;ENSP00000356016:P1218L	ENSP00000356016:P1218L	P	+	2	0	CR1	205803898	0.001000	0.12720	0.007000	0.13788	0.005000	0.04900	0.307000	0.19296	1.737000	0.51674	0.194000	0.17425	CCC		0.577	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		4	96	0	0	0	0.001168	0	4	96				
PLXNA2	5362	broad.mit.edu	37	1	208216417	208216417	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:208216417G>A	ENST00000367033.3	-	21	4763	c.4006C>T	c.(4006-4008)Cgg>Tgg	p.R1336W		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1336					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.R1336W(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCCAGCTCCCGCAGGACGGGG	0.607																																							uc001hgz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(4006-4008)CGG>TGG		plexin A2 precursor							54.0	52.0	53.0					1																	208216417		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208216417G>A	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4006C>T	1.37:g.208216417G>A	ENSP00000356000:p.Arg1336Trp						p.R1336W	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	21	4764	-			1336			Cytoplasmic (Potential).		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.4006C>T	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896721	0.91962	.	.	ENSG00000076356	ENST00000367033	T	0.12569	2.67	5.09	5.09	0.68999	Plexin, cytoplasmic RasGAP domain (1);	.	.	.	.	T	0.37812	0.1017	M	0.74647	2.275	0.58432	D	0.999999	D	0.76494	0.999	D	0.63192	0.912	T	0.22068	-1.0227	9	0.87932	D	0	.	18.9063	0.92462	0.0:0.0:1.0:0.0	.	1336	O75051	PLXA2_HUMAN	W	1336	ENSP00000356000:R1336W	ENSP00000356000:R1336W	R	-	1	2	PLXNA2	206283040	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.040000	0.41203	2.543000	0.85770	0.650000	0.86243	CGG		0.607	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		25	40	0	0	0	0.009535	0	25	40				
RYR2	6262	broad.mit.edu	37	1	237765338	237765338	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:237765338C>A	ENST00000366574.2	+	35	4927	c.4610C>A	c.(4609-4611)aCa>aAa	p.T1537K	RYR2_ENST00000542537.1_Missense_Mutation_p.T1521K|RYR2_ENST00000360064.6_Missense_Mutation_p.T1535K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1537	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.T1535K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAACCGAGTACAAAATTATTT	0.308																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4609-4611)ACA>AAA		cardiac muscle ryanodine receptor							63.0	60.0	61.0					1																	237765338		1799	4065	5864	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237765338C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4610C>A	1.37:g.237765338C>A	ENSP00000355533:p.Thr1537Lys						p.T1537K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		35	4730	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1537			Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4610C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.857890	0.91433	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.68903	-0.36;-0.36;-0.36	5.53	5.53	0.82687	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000004	D	0.83147	0.5191	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84816	0.0793	10	0.87932	D	0	.	19.4531	0.94876	0.0:1.0:0.0:0.0	.	1537	Q92736	RYR2_HUMAN	K	1537;1535;1521	ENSP00000355533:T1537K;ENSP00000353174:T1535K;ENSP00000443798:T1521K	ENSP00000353174:T1535K	T	+	2	0	RYR2	235831961	1.000000	0.71417	0.993000	0.49108	0.927000	0.56198	7.776000	0.85560	2.600000	0.87896	0.591000	0.81541	ACA		0.308	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	29	1	0	0.000442599	0.006214	0.000491491	8	29				
FMN2	56776	broad.mit.edu	37	1	240255621	240255621	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:240255621G>A	ENST00000319653.9	+	1	442	c.212G>A	c.(211-213)aGa>aAa	p.R71K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	71					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.R214K(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCGACTCCAGAGCCTCGGTG	0.667																																							uc010pyd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(211-213)AGA>AAA		formin 2							13.0	15.0	14.0					1																	240255621		2201	4297	6498	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255621G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.212G>A	1.37:g.240255621G>A	ENSP00000318884:p.Arg71Lys					FMN2_uc010pye.1_Missense_Mutation_p.R71K	p.R71K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	437	+	Ovarian(103;0.127)	all_cancers(173;0.013)	71					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.212G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	14.36	2.510833	0.44660	.	.	ENSG00000155816	ENST00000319653	T	0.28895	1.59	3.67	3.67	0.42095	.	0.000000	0.64402	D	0.000002	T	0.27933	0.0688	L	0.47716	1.5	0.80722	D	1	B	0.29862	0.259	B	0.23716	0.048	T	0.17653	-1.0362	10	0.46703	T	0.11	.	15.9277	0.79632	0.0:0.0:1.0:0.0	.	71	Q9NZ56	FMN2_HUMAN	K	71	ENSP00000318884:R71K	ENSP00000318884:R71K	R	+	2	0	FMN2	238322244	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	5.427000	0.66483	2.037000	0.60232	0.313000	0.20887	AGA		0.667	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		3	15	0	0	0	0.004672	0	3	15				
CHML	1122	broad.mit.edu	37	1	241797243	241797243	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:241797243G>A	ENST00000366553.1	-	1	1989	c.1826C>T	c.(1825-1827)cCa>cTa	p.P609L	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	609					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.P609L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ATTTGGAGGTGGAGGGCAGAA	0.473																																							uc001hzd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(1825-1827)CCA>CTA		choroideremia-like Rab escort protein 2							133.0	133.0	133.0					1																	241797243		2203	4299	6502	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241797243G>A	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1826C>T	1.37:g.241797243G>A	ENSP00000355511:p.Pro609Leu					OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron	p.P609L	NM_001821	NP_001812	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	1990	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	609					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.1826C>T	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.527216	0.85706	.	.	ENSG00000203668	ENST00000366553	T	0.59224	0.28	4.55	4.55	0.56014	.	0.062472	0.64402	U	0.000005	T	0.67163	0.2864	.	.	.	0.80722	D	1	D	0.59767	0.986	P	0.53760	0.734	T	0.70389	-0.4885	9	0.59425	D	0.04	.	15.6278	0.76874	0.0:0.0:1.0:0.0	.	609	P26374	RAE2_HUMAN	L	609	ENSP00000355511:P609L	ENSP00000355511:P609L	P	-	2	0	CHML	239863866	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.446000	0.80609	2.826000	0.97356	0.655000	0.94253	CCA		0.473	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		23	83	0	0	0	0.014323	0	23	83				
OR2B11	127623	broad.mit.edu	37	1	247615143	247615143	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:247615143C>T	ENST00000318749.6	-	1	165	c.142G>A	c.(142-144)Gcc>Acc	p.A48T		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A48T(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGGATGATGGCGACGTTCCCC	0.582																																							uc010pyx.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(142-144)GCC>ACC		olfactory receptor, family 2, subfamily B,							170.0	165.0	167.0					1																	247615143		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247615143C>T		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.142G>A	1.37:g.247615143C>T	ENSP00000325682:p.Ala48Thr						p.A48T	NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	142	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	48			Helical; Name=1; (Potential).		B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.142G>A	CCDS31090.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.659452	0.00772	.	.	ENSG00000177535	ENST00000318749	T	0.01084	5.36	4.81	-2.56	0.06268	GPCR, rhodopsin-like superfamily (1);	0.746595	0.11791	N	0.529214	T	0.00524	0.0017	N	0.05230	-0.09	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.44877	-0.9299	10	0.02654	T	1	.	4.7302	0.12961	0.4607:0.299:0.0:0.2403	.	48	Q5JQS5	OR2BB_HUMAN	T	48	ENSP00000325682:A48T	ENSP00000325682:A48T	A	-	1	0	OR2B11	245681766	0.000000	0.05858	0.012000	0.15200	0.242000	0.25591	-5.056000	0.00155	-0.597000	0.05813	0.544000	0.68410	GCC		0.582	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		40	126	0	0	0	0.00623	0	40	126				
OR2C3	81472	broad.mit.edu	37	1	247695442	247695442	+	Silent	SNP	G	G	A	rs148160393	byFrequency	TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:247695442G>A	ENST00000366487.3	-	2	733	c.372C>T	c.(370-372)taC>taT	p.Y124Y	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y123Y(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGATGGCAGCGTAGCGGTCAT	0.562													G|||	3	0.000599042	0.0008	0.0	5008	,	,		21291	0.0		0.001	False		,,,				2504	0.001						uc009xgy.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(370-372)TAC>TAT		olfactory receptor, family 2, subfamily C,		G		1,4405	2.1+/-5.4	0,1,2202	75.0	76.0	76.0		372	-5.1	0.7	1	dbSNP_134	76	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	OR2C3	NM_198074.4		0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384		124/321	247695442	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695442G>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.372C>T	1.37:g.247695442G>A						C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.Y124Y	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	734	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	124			Cytoplasmic (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.372C>T	CCDS1634.2																																																																																				0.562	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		4	32	0	0	0	0.009096	0	4	32				
OR14A16	284532	broad.mit.edu	37	1	247978952	247978952	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:247978952A>G	ENST00000357627.1	-	1	79	c.80T>C	c.(79-81)aTt>aCt	p.I27T		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I27T(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CAAGAAGAGAATCGAATGCAA	0.393																																					Ovarian(112;180 1586 15073 21914 33526)	Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(79-81)ATT>ACT		olfactory receptor, family 14, subfamily A,							75.0	74.0	74.0					1																	247978952		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978952A>G	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.80T>C	1.37:g.247978952A>G	ENSP00000350248:p.Ile27Thr						p.I27T	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	80	-			27			Helical; Name=1; (Potential).		Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.80T>C	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	A	1.828	-0.470457	0.04445	.	.	ENSG00000196772	ENST00000357627	T	0.00587	6.38	3.36	0.726	0.18248	.	2.065910	0.02959	N	0.142801	T	0.00468	0.0015	N	0.04132	-0.27	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.48811	-0.9002	10	0.18276	T	0.48	.	12.6123	0.56558	0.3534:0.6466:0.0:0.0	.	27	Q8NHC5	O14AG_HUMAN	T	27	ENSP00000350248:I27T	ENSP00000350248:I27T	I	-	2	0	OR14A16	246045575	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.208000	0.09371	0.033000	0.15463	0.481000	0.45027	ATT		0.393	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		13	48	0	0	0	0.00245	0	13	48				
OR14C36	127066	broad.mit.edu	37	1	248512808	248512808	+	Silent	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:248512808G>T	ENST00000317861.1	+	1	732	c.732G>T	c.(730-732)ctG>ctT	p.L244L		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L244L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CTCACATCCTGGTGGTGTCAG	0.498																																							uc010pzl.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(730-732)CTG>CTT		olfactory receptor, family 14, subfamily C,							205.0	135.0	159.0					1																	248512808		2203	4300	6503	SO:0001819	synonymous_variant	127066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248512808G>T	BK004466	CCDS31112.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000177174	ENSG00000177174		"""GPCR / Class A : Olfactory receptors"""	15026	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BF, member 1"""	OR5BF1			Standard	NM_001001918		Approved		uc010pzl.2	Q8NHC7	OTTHUMG00000040463	ENST00000317861.1:c.732G>T	1.37:g.248512808G>T							p.L244L	NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN			1	732	+			244			Helical; Name=6; (Potential).		Q6IEZ6	Silent	SNP	ENST00000317861.1	37	c.732G>T	CCDS31112.1																																																																																				0.498	OR14C36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097359.1	NM_001001918		18	80	1	0	1.02788e-11	0.00499	1.40233e-11	18	80				
OR2T6	254879	broad.mit.edu	37	1	248550951	248550951	+	Silent	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:248550951C>T	ENST00000355728.2	+	1	42	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L14L(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTTTACCCTCATGGGGCTCT	0.423																																							uc001iei.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(40-42)CTC>CTT		olfactory receptor, family 2, subfamily T,							121.0	121.0	121.0					1																	248550951		2203	4300	6503	SO:0001819	synonymous_variant	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248550951C>T	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.42C>T	1.37:g.248550951C>T							p.L14L	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	42	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		14			Extracellular (Potential).		A6NE36	Silent	SNP	ENST00000355728.2	37	c.42C>T	CCDS31114.1																																																																																				0.423	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		15	124	0	0	0	0.005443	0	15	124				
KIF5B	3799	broad.mit.edu	37	10	32307277	32307277	+	Silent	SNP	G	G	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr10:32307277G>C	ENST00000302418.4	-	22	2863	c.2406C>G	c.(2404-2406)ctC>ctG	p.L802L	KIF5B_ENST00000493889.1_Intron	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	802					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.L802L(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CCTGAACAAAGAGTTTGCGCA	0.368			T	"""RET, ALK"""	NSCLC																																		uc001iwe.3		NA		Dom	yes		10	10p11.22	3799		kinesin family member 5B			E				KIF5B/ALK(4)	1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(1)	5						c.(2404-2406)CTC>CTG		kinesin family member 5B							128.0	127.0	127.0					10																	32307277		2203	4300	6503	SO:0001819	synonymous_variant	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32307277G>C	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2406C>G	10.37:g.32307277G>C							p.L802L	NM_004521	NP_004512	P33176	KINH_HUMAN			22	2876	-		Prostate(175;0.0137)	802					A0AVB2|Q5VZ85	Silent	SNP	ENST00000302418.4	37	c.2406C>G	CCDS7171.1																																																																																				0.368	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		10	86	0	0	0	0.013537	0	10	86				
PARD3	56288	broad.mit.edu	37	10	34400444	34400444	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr10:34400444G>A	ENST00000374789.3	-	25	4049	c.3724C>T	c.(3724-3726)Cag>Tag	p.Q1242*	PARD3_ENST00000374794.3_Nonsense_Mutation_p.Q1130*|PARD3_ENST00000346874.4_Nonsense_Mutation_p.Q1205*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.Q1196*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.Q1226*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.Q1152*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.Q1182*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.Q1239*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1242					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.Q1242*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GAGTAGTTCTGCTCCCAAGAG	0.557																																							uc010qej.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(3724-3726)CAG>TAG		partitioning-defective protein 3 homolog							59.0	61.0	60.0					10																	34400444		2203	4300	6503	SO:0001587	stop_gained	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34400444G>A	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3724C>T	10.37:g.34400444G>A	ENSP00000363921:p.Gln1242*					PARD3_uc010qek.1_Nonsense_Mutation_p.Q1239*|PARD3_uc010qel.1_Nonsense_Mutation_p.Q1205*|PARD3_uc010qem.1_Nonsense_Mutation_p.Q1226*|PARD3_uc010qen.1_Nonsense_Mutation_p.Q1196*|PARD3_uc010qeo.1_Nonsense_Mutation_p.Q1159*|PARD3_uc010qep.1_Nonsense_Mutation_p.Q1152*|PARD3_uc010qeq.1_Nonsense_Mutation_p.Q1130*|uc001ixe.1_5'Flank	p.Q1242*	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			25	3724	-		Breast(68;0.0707)	1242					F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Nonsense_Mutation	SNP	ENST00000374789.3	37	c.3724C>T	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	G	44	10.572167	0.99430	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	.	.	.	5.87	5.87	0.94306	.	0.101252	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	X	1226;1152;1242;1239;1205;1130;1196;1182	.	ENSP00000340591:Q1205X	Q	-	1	0	PARD3	34440450	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.992000	0.76238	2.941000	0.99782	0.655000	0.94253	CAG		0.557	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		21	60	0	0	0	0.00333	0	21	60				
TNKS2	80351	broad.mit.edu	37	10	93621874	93621874	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr10:93621874C>G	ENST00000371627.4	+	26	3779	c.3400C>G	c.(3400-3402)Cta>Gta	p.L1134V		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1134	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L1134V(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TGTAAATGGCCTAGCATTAGC	0.398																																							uc001khp.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(3)|skin(3)|ovary(1)|lung(1)	8						c.(3400-3402)CTA>GTA		tankyrase, TRF1-interacting ankyrin-related							124.0	109.0	114.0					10																	93621874		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93621874C>G	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.3400C>G	10.37:g.93621874C>G	ENSP00000360689:p.Leu1134Val						p.L1134V	NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN			26	3697	+		Colorectal(252;0.162)	1134			PARP catalytic.		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.3400C>G	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851866	0.71719	.	.	ENSG00000107854	ENST00000371627	T	0.15834	2.39	5.59	4.68	0.58851	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.45606	D	0.000354	T	0.38506	0.1043	M	0.76727	2.345	0.47778	D	0.999516	D	0.67145	0.996	D	0.81914	0.995	T	0.13980	-1.0489	10	0.87932	D	0	.	9.5109	0.39076	0.0:0.7515:0.0:0.2485	.	1134	Q9H2K2	TNKS2_HUMAN	V	1134	ENSP00000360689:L1134V	ENSP00000360689:L1134V	L	+	1	2	TNKS2	93611854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.181000	0.42547	2.644000	0.89710	0.585000	0.79938	CTA		0.398	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		6	48	0	0	0	0.001984	0	6	48				
PDCD11	22984	broad.mit.edu	37	10	105166430	105166430	+	Silent	SNP	A	A	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr10:105166430A>G	ENST00000369797.3	+	7	847	c.753A>G	c.(751-753)ggA>ggG	p.G251G		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	251	S1 motif 2. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.G251G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GCAACGGAGGAGTTGTTAGTC	0.483																																							uc001kwy.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(751-753)GGA>GGG		programmed cell death 11							142.0	131.0	135.0					10																	105166430		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105166430A>G	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.753A>G	10.37:g.105166430A>G							p.G251G	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	7	840	+		Colorectal(252;0.0747)|Breast(234;0.128)	251			S1 motif 2.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.753A>G	CCDS31276.1																																																																																				0.483	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			23	63	0	0	0	0.014323	0	23	63				
IRF7	3665	broad.mit.edu	37	11	614252	614252	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:614252A>G	ENST00000397574.2	-	6	970	c.601T>C	c.(601-603)Tgg>Cgg	p.W201R	IRF7_ENST00000397570.1_Missense_Mutation_p.W201R|IRF7_ENST00000525445.1_Missense_Mutation_p.W95R|IRF7_ENST00000330243.5_Missense_Mutation_p.W214R|IRF7_ENST00000397562.3_Intron|IRF7_ENST00000348655.6_Missense_Mutation_p.W201R|IRF7_ENST00000397566.1_Missense_Mutation_p.W214R	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	201					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.W214R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTGCCCCCCATGACGCTGTC	0.677																																							uc001lqh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(601-603)TGG>CGG		interferon regulatory factor 7 isoform a							43.0	42.0	42.0					11																	614252		2201	4299	6500	SO:0001583	missense	3665				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:614252A>G	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.601T>C	11.37:g.614252A>G	ENSP00000380704:p.Trp201Arg					IRF7_uc009ycb.2_Missense_Mutation_p.W95R|IRF7_uc010qwf.1_Missense_Mutation_p.W200R|IRF7_uc001lqf.2_Intron|IRF7_uc010qwg.1_Intron|IRF7_uc001lqg.2_Missense_Mutation_p.W214R|IRF7_uc001lqi.2_Missense_Mutation_p.W201R|IRF7_uc010qwh.1_Intron	p.W201R	NM_001572	NP_001563	Q92985	IRF7_HUMAN		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	6	971	-		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	201					B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Missense_Mutation	SNP	ENST00000397574.2	37	c.601T>C	CCDS7703.1	.	.	.	.	.	.	.	.	.	.	a	13.65	2.300966	0.40694	.	.	ENSG00000185507	ENST00000525445;ENST00000348655;ENST00000397570;ENST00000397566;ENST00000397574;ENST00000330243	D;D;D;D;D;D	0.95980	-2.9;-3.86;-3.86;-3.84;-3.87;-3.84	3.15	-0.548	0.11833	.	1.100120	0.06772	N	0.783679	D	0.92143	0.7509	L	0.27053	0.805	0.09310	N	1	D;P;D;D	0.61697	0.99;0.799;0.978;0.962	P;B;B;P	0.51615	0.675;0.277;0.403;0.628	D	0.84490	0.0610	10	0.44086	T	0.13	-0.8692	2.9433	0.05837	0.4302:0.0:0.3623:0.2075	.	95;201;201;214	E9PSE3;Q92985-2;Q92985;Q92985-4	.;.;IRF7_HUMAN;.	R	95;201;201;214;201;214	ENSP00000434009:W95R;ENSP00000331803:W201R;ENSP00000380700:W201R;ENSP00000380697:W214R;ENSP00000380704:W201R;ENSP00000329411:W214R	ENSP00000329411:W214R	W	-	1	0	IRF7	604252	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.102000	0.15272	-0.121000	0.11787	0.454000	0.30748	TGG		0.677	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		11	18	0	0	0	0.008291	0	11	18				
ZNF195	7748	broad.mit.edu	37	11	3380496	3380496	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:3380496T>C	ENST00000399602.4	-	6	1868	c.1742A>G	c.(1741-1743)gAc>gGc	p.D581G	ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000429541.2_Missense_Mutation_p.D513G|ZNF195_ENST00000354599.6_Missense_Mutation_p.D509G|ZNF195_ENST00000343338.7_Missense_Mutation_p.D513G|ZNF195_ENST00000005082.9_Missense_Mutation_p.D558G|ZNF195_ENST00000526601.1_Missense_Mutation_p.D562G	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	581					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.D509G(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCCACATTCGTCACATTTGTA	0.403																																							uc001lxt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1741-1743)GAC>GGC		zinc finger protein 195 isoform 1							102.0	106.0	104.0					11																	3380496		2061	4227	6288	SO:0001583	missense	7748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3380496T>C		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.1742A>G	11.37:g.3380496T>C	ENSP00000382511:p.Asp581Gly					uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Missense_Mutation_p.D558G|ZNF195_uc001lxs.2_Missense_Mutation_p.D509G|ZNF195_uc010qxr.1_Missense_Mutation_p.D562G|ZNF195_uc009ydz.2_Missense_Mutation_p.D536G|ZNF195_uc001lxu.2_Missense_Mutation_p.D513G	p.D581G	NM_001130520	NP_001123992	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	6	1920	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	581			C2H2-type 9.		A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	c.1742A>G	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	t	6.626	0.483917	0.12581	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07638	0.0192	L	0.41824	1.3	0.09310	N	1	B;B;B;B;B;B	0.22541	0.02;0.003;0.058;0.002;0.071;0.002	B;B;B;B;B;B	0.28232	0.043;0.002;0.032;0.001;0.087;0.001	T	0.36504	-0.9745	9	0.72032	D	0.01	.	4.0656	0.09859	0.0:0.0:0.3749:0.6251	.	562;440;558;513;581;509	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	G	509;581;513;513;558;562	ENSP00000346613:D509G;ENSP00000382511:D581G;ENSP00000344483:D513G;ENSP00000387998:D513G;ENSP00000005082:D558G;ENSP00000435828:D562G	ENSP00000005082:D558G	D	-	2	0	ZNF195	3337072	0.000000	0.05858	0.014000	0.15608	0.111000	0.19643	-2.305000	0.01133	0.535000	0.28714	0.254000	0.18369	GAC		0.403	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			3	112	0	0	0	0.004672	0	3	112				
OR52N2	390077	broad.mit.edu	37	11	5841596	5841596	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:5841596C>A	ENST00000317037.2	+	1	53	c.31C>A	c.(31-33)Cca>Aca	p.P11T	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P11T(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGCCTGACCCCAGGATTCTT	0.512																																							uc010qzp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(31-33)CCA>ACA		olfactory receptor, family 52, subfamily N,							77.0	74.0	75.0					11																	5841596		2201	4296	6497	SO:0001583	missense	390077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5841596C>A	AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.31C>A	11.37:g.5841596C>A	ENSP00000322801:p.Pro11Thr					TRIM5_uc001mbq.1_Intron	p.P11T	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	31	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	11			Extracellular (Potential).		Q6IFF9	Missense_Mutation	SNP	ENST00000317037.2	37	c.31C>A	CCDS31399.1	.	.	.	.	.	.	.	.	.	.	C	5.854	0.341841	0.11069	.	.	ENSG00000180988	ENST00000317037	T	0.37584	1.19	5.91	4.99	0.66335	.	0.103514	0.43579	D	0.000546	T	0.39517	0.1081	M	0.74389	2.26	0.28482	N	0.914884	B	0.22480	0.07	B	0.27076	0.076	T	0.45190	-0.9278	10	0.66056	D	0.02	.	8.6946	0.34287	0.1527:0.7719:0.0:0.0754	.	11	Q8NGI0	O52N2_HUMAN	T	11	ENSP00000322801:P11T	ENSP00000322801:P11T	P	+	1	0	OR52N2	5798172	0.000000	0.05858	0.198000	0.23420	0.076000	0.17211	0.409000	0.21082	1.487000	0.48415	-0.181000	0.13052	CCA		0.512	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401143.1	NM_001005174		28	85	1	0	1.7881e-09	0.008361	2.27685e-09	28	85				
AKIP1	56672	broad.mit.edu	37	11	8933196	8933196	+	Missense_Mutation	SNP	C	C	G	rs374997800		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:8933196C>G	ENST00000309377.4	+	2	290	c.200C>G	c.(199-201)cCg>cGg	p.P67R	AKIP1_ENST00000396648.2_Missense_Mutation_p.P67R|AKIP1_ENST00000529876.1_Missense_Mutation_p.P67R|AKIP1_ENST00000534506.1_Missense_Mutation_p.P67R|AKIP1_ENST00000299576.5_Missense_Mutation_p.P67R|AKIP1_ENST00000534147.1_Missense_Mutation_p.P67R|AKIP1_ENST00000525005.1_Missense_Mutation_p.P67R|ST5_ENST00000534127.1_5'Flank|AKIP1_ENST00000309357.4_Missense_Mutation_p.P67R	NM_020642.3	NP_065693.2	Q9NQ31	AKIP1_HUMAN	A kinase (PRKA) interacting protein 1	67					substrate adhesion-dependent cell spreading (GO:0034446)	nucleus (GO:0005634)		p.P67R(1)		kidney(1)|large_intestine(2)|lung(2)	5						GCAGCCGGCCCGCAGCGCGTT	0.741																																							uc001mgx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(199-201)CCG>CGG		chromosome 11 open reading frame 17							8.0	10.0	9.0					11																	8933196		2167	4254	6421	SO:0001583	missense	56672					nucleus	protein binding	g.chr11:8933196C>G	AF512007	CCDS7793.1, CCDS55743.1, CCDS55744.1	11p15.3	2011-04-18	2011-04-18	2011-04-18	ENSG00000166452	ENSG00000166452			1170	protein-coding gene	gene with protein product		609191	"""chromosome 11 open reading frame 17"""	C11orf17		20562110, 18178962, 15630084	Standard	NM_020642		Approved	BCA3	uc001mgx.3	Q9NQ31	OTTHUMG00000165653	ENST00000309377.4:c.200C>G	11.37:g.8933196C>G	ENSP00000310459:p.Pro67Arg					ST5_uc001mgv.2_5'Flank|C11orf17_uc001mgz.2_Missense_Mutation_p.P67R|C11orf17_uc001mgy.2_Missense_Mutation_p.P67R|C11orf17_uc010rbr.1_Missense_Mutation_p.P67R|C11orf17_uc010rbs.1_Missense_Mutation_p.P67R|C11orf17_uc001mha.2_Missense_Mutation_p.P67R	p.P67R	NM_020642	NP_065693	Q9NQ31	AKIP1_HUMAN		Epithelial(150;5.08e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0243)	2	276	+			67					Q8NBS2|Q8TAC6|Q8TAD3|Q8TAE0	Missense_Mutation	SNP	ENST00000309377.4	37	c.200C>G	CCDS7793.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.138151	0.37728	.	.	ENSG00000166452	ENST00000299576;ENST00000309377;ENST00000309357;ENST00000529876;ENST00000525005;ENST00000524577;ENST00000534506;ENST00000396648;ENST00000534147;ENST00000529942	T;T;T;T;T;T;T;T;T;T	0.41400	1.29;1.48;1.42;1.0;1.14;1.35;1.0;1.29;1.48;1.44	4.68	1.79	0.24919	.	0.999489	0.08096	N	0.998550	T	0.38852	0.1056	M	0.65975	2.015	0.09310	N	1	B;B;B;B;B	0.26002	0.007;0.139;0.014;0.064;0.046	B;B;B;B;B	0.27262	0.03;0.078;0.02;0.04;0.054	T	0.38908	-0.9639	10	0.41790	T	0.15	-1.9514	3.4031	0.07331	0.178:0.5583:0.1717:0.0921	.	67;67;67;67;67	E9PN38;B4DGE2;Q9NQ31-2;Q9NQ31-3;Q9NQ31	.;.;.;.;AKIP1_HUMAN	R	67;67;67;67;67;67;67;67;67;62	ENSP00000299576:P67R;ENSP00000310459:P67R;ENSP00000310644:P67R;ENSP00000434726:P67R;ENSP00000433510:P67R;ENSP00000434785:P67R;ENSP00000434820:P67R;ENSP00000379885:P67R;ENSP00000431331:P67R;ENSP00000431602:P62R	ENSP00000299576:P67R	P	+	2	0	AKIP1	8889772	0.004000	0.15560	0.002000	0.10522	0.004000	0.04260	0.731000	0.26058	0.447000	0.26695	-0.127000	0.14921	CCG		0.741	AKIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385615.1	NM_020642		3	6	0	0	0	0.009096	0	3	6				
F2	2147	broad.mit.edu	37	11	46748375	46748375	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:46748375G>A	ENST00000311907.5	+	9	1174	c.1118G>A	c.(1117-1119)gGc>gAc	p.G373D	F2_ENST00000530231.1_Missense_Mutation_p.G373D	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	373	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)	p.G373D(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	GCAGAGATCGGCATGTCACCT	0.617																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	Esophageal Squamous(147;1147 1808 2148 38609 51144)	uc001ndf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1117-1119)GGC>GAC		coagulation factor II preproprotein	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)						113.0	110.0	111.0					11																	46748375		2201	4299	6500	SO:0001583	missense	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46748375G>A	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.1118G>A	11.37:g.46748375G>A	ENSP00000308541:p.Gly373Asp					F2_uc001ndg.3_RNA	p.G373D	NM_000506	NP_000497	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	9	1161	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	373			Peptidase S1.		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	c.1118G>A	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362178	0.61403	.	.	ENSG00000180210	ENST00000311907;ENST00000530231	D;D	0.94457	-3.43;-3.43	4.13	4.13	0.48395	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.113287	0.64402	D	0.000014	D	0.96188	0.8757	L	0.58583	1.82	0.46798	D	0.999205	D	0.65815	0.995	D	0.72338	0.977	D	0.96728	0.9537	10	0.87932	D	0	.	15.1472	0.72667	0.0:0.0:1.0:0.0	.	373	P00734	THRB_HUMAN	D	373	ENSP00000308541:G373D;ENSP00000433907:G373D	ENSP00000308541:G373D	G	+	2	0	F2	46704951	1.000000	0.71417	0.043000	0.18650	0.019000	0.09904	5.487000	0.66863	2.140000	0.66376	0.555000	0.69702	GGC		0.617	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			4	111	0	0	0	0.001168	0	4	111				
OR10AG1	282770	broad.mit.edu	37	11	55735567	55735567	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:55735567G>C	ENST00000312345.2	-	1	423	c.373C>G	c.(373-375)Cta>Gta	p.L125V		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L125V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TTCATCACTAGAGGATACTGC	0.438																																							uc010rit.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(373-375)CTA>GTA		olfactory receptor, family 10, subfamily AG,							78.0	76.0	77.0					11																	55735567		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735567G>C	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.373C>G	11.37:g.55735567G>C	ENSP00000311477:p.Leu125Val						p.L125V	NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN			1	373	-	Esophageal squamous(21;0.0137)		125			Cytoplasmic (Potential).		B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.373C>G	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	G	0.186	-1.057704	0.01965	.	.	ENSG00000174970	ENST00000312345	T	0.00634	6.07	5.47	0.343	0.16001	GPCR, rhodopsin-like superfamily (1);	0.361211	0.20458	N	0.091952	T	0.00356	0.0011	N	0.11064	0.09	0.09310	N	1	B	0.16802	0.019	B	0.16722	0.016	T	0.45963	-0.9225	10	0.02654	T	1	.	5.2204	0.15366	0.2767:0.2598:0.4635:0.0	.	125	Q8NH19	O10AG_HUMAN	V	125	ENSP00000311477:L125V	ENSP00000311477:L125V	L	-	1	2	OR10AG1	55492143	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-4.823000	0.00181	-0.172000	0.10779	0.477000	0.44152	CTA		0.438	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		7	30	0	0	0	0.001984	0	7	30				
OR8H1	219469	broad.mit.edu	37	11	56057967	56057967	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:56057967G>T	ENST00000313022.2	-	1	599	c.572C>A	c.(571-573)aCa>aAa	p.T191K		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T191K(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AATGTCGTATGTGTCCATGCA	0.433																																							uc010rje.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(571-573)ACA>AAA		olfactory receptor, family 8, subfamily H,							135.0	121.0	126.0					11																	56057967		2201	4296	6497	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56057967G>T	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.572C>A	11.37:g.56057967G>T	ENSP00000323595:p.Thr191Lys						p.T191K	NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN			1	572	-	Esophageal squamous(21;0.00448)		191			Extracellular (Potential).		B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.572C>A	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572293	0.45798	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.00253	8.43	3.81	2.89	0.33648	GPCR, rhodopsin-like superfamily (1);	0.115890	0.39687	N	0.001292	T	0.00552	0.0018	M	0.87547	2.89	0.09310	N	1	D	0.58970	0.984	D	0.68039	0.955	T	0.25984	-1.0116	10	0.56958	D	0.05	.	11.5912	0.50947	0.0919:0.0:0.9081:0.0	.	191	Q8NGG4	OR8H1_HUMAN	K	191;187	ENSP00000323595:T191K	ENSP00000323595:T191K	T	-	2	0	OR8H1	55814543	0.003000	0.15002	0.006000	0.13384	0.003000	0.03518	0.696000	0.25541	0.893000	0.36288	0.573000	0.79308	ACA		0.433	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		29	69	1	0	1.7881e-09	0.008361	2.27685e-09	29	69				
OSBP	5007	broad.mit.edu	37	11	59376080	59376080	+	Silent	SNP	T	T	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:59376080T>A	ENST00000263847.1	-	3	1178	c.699A>T	c.(697-699)acA>acT	p.T233T		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	233					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)	p.T233T(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GCTGCAGAGCTGTGCCATGCT	0.498																																							uc001noc.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(697-699)ACA>ACT		oxysterol binding protein							141.0	119.0	126.0					11																	59376080		2201	4295	6496	SO:0001819	synonymous_variant	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59376080T>A	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.699A>T	11.37:g.59376080T>A							p.T233T	NM_002556	NP_002547	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	3	1179	-		all_epithelial(135;0.000236)	233					Q6P524	Silent	SNP	ENST00000263847.1	37	c.699A>T	CCDS7974.1																																																																																				0.498	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			22	77	0	0	0	0.010504	0	22	77				
MS4A15	219995	broad.mit.edu	37	11	60531432	60531432	+	Splice_Site	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:60531432G>T	ENST00000405633.3	+	2	304		c.e2+1		MS4A15_ENST00000337911.4_Intron|MS4A15_ENST00000528170.1_Splice_Site	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15							integral component of membrane (GO:0016021)		p.?(1)		breast(1)|large_intestine(2)|lung(3)	6						AGTTTTGGGGGTAAGAACAGC	0.557																																							uc009ynf.1		NA																	1	Unknown(1)		lung(1)	lung(1)	1						c.e2+1		membrane-spanning 4-domains, subfamily A, member							14.0	16.0	15.0					11																	60531432		1996	4149	6145	SO:0001630	splice_region_variant	219995					integral to membrane	receptor activity	g.chr11:60531432G>T	AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.225+1G>T	11.37:g.60531432G>T						MS4A15_uc001npx.2_Intron|MS4A15_uc001npy.2_Splice_Site|MS4A15_uc009yng.1_Splice_Site_p.G75_splice	p.G75_splice	NM_001098835	NP_001092305	Q8N5U1	M4A15_HUMAN			2	445	+								A9UJY6|A9UJY7|F2Z2J5	Splice_Site	SNP	ENST00000405633.3	37	c.225_splice	CCDS44617.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.594947	0.66219	.	.	ENSG00000166961	ENST00000528170;ENST00000405633	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2397	0.65950	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MS4A15	60288008	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.542000	0.60677	2.404000	0.81709	0.462000	0.41574	.		0.557	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1		Intron	6	12	1	0	0.00116845	0.001168	0.00127527	6	12				
CLPB	81570	broad.mit.edu	37	11	72006575	72006575	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:72006575C>A	ENST00000294053.3	-	13	1710	c.1537G>T	c.(1537-1539)Gct>Tct	p.A513S	CLPB_ENST00000340729.5_Missense_Mutation_p.A454S|CLPB_ENST00000543042.1_Missense_Mutation_p.A312S|CLPB_ENST00000538039.1_Missense_Mutation_p.A483S|CLPB_ENST00000538021.1_Missense_Mutation_p.A121S|CLPB_ENST00000437826.2_Missense_Mutation_p.A468S	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	513					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.A513S(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						ATCTCCAAAGCTTCCTGCCTC	0.567																																							uc001osj.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1537-1539)GCT>TCT		caseinolytic peptidase B							136.0	94.0	108.0					11																	72006575		2200	4293	6493	SO:0001583	missense	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72006575C>A	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1537G>T	11.37:g.72006575C>A	ENSP00000294053:p.Ala513Ser					CLPB_uc010rqx.1_Missense_Mutation_p.A468S|CLPB_uc010rqy.1_Missense_Mutation_p.A454S|CLPB_uc001osk.2_Missense_Mutation_p.A483S|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Missense_Mutation_p.A312S|CLPB_uc001osi.2_Missense_Mutation_p.A121S	p.A513S	NM_030813	NP_110440	Q9H078	CLPB_HUMAN			13	1587	-			513					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	c.1537G>T	CCDS8215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.983171|3.983171	0.74474|0.74474	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000538021|ENST00000544382	T;T;T;T;T;T;T|.	0.28666|.	1.6;1.6;1.6;1.6;1.6;1.6;1.6|.	4.8|4.8	4.8|4.8	0.61643|0.61643	ATPase, AAA-2 (1);ATPase, AAA+ type, core (1);|.	0.062761|.	0.64402|.	D|.	0.000008|.	T|T	0.54351|0.54351	0.1853|0.1853	N|N	0.26162|0.26162	0.8|0.8	0.51767|0.51767	D|D	0.999931|0.999931	P;P;P;B;P;P|.	0.45044|.	0.497;0.849;0.642;0.34;0.844;0.57|.	B;B;P;B;P;B|.	0.53593|.	0.144;0.331;0.449;0.155;0.73;0.245|.	T|T	0.51325|0.51325	-0.8720|-0.8720	10|5	0.48119|.	T|.	0.1|.	-6.822|-6.822	16.4633|16.4633	0.84071|0.84071	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	312;454;468;483;513;121|.	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078;Q7Z777|.	.;.;.;.;CLPB_HUMAN;.|.	S|N	513;483;518;454;468;312;121|290	ENSP00000294053:A513S;ENSP00000441518:A483S;ENSP00000443822:A518S;ENSP00000340385:A454S;ENSP00000407296:A468S;ENSP00000439746:A312S;ENSP00000445180:A121S|.	ENSP00000294053:A513S|.	A|K	-|-	1|3	0|2	CLPB|CLPB	71684223|71684223	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.004000|6.004000	0.70709|0.70709	2.220000|2.220000	0.72140|0.72140	0.561000|0.561000	0.74099|0.74099	GCT|AAG		0.567	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		12	34	1	0	1.49906e-05	0.00245	1.72482e-05	12	34				
FAT3	120114	broad.mit.edu	37	11	92531077	92531077	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:92531077C>A	ENST00000298047.6	+	9	4915	c.4898C>A	c.(4897-4899)aCg>aAg	p.T1633K	FAT3_ENST00000525166.1_Missense_Mutation_p.T1483K|FAT3_ENST00000409404.2_Missense_Mutation_p.T1633K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1633	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T1633K(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GACATGACGACGATGGGTCAG	0.458										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(4897-4899)ACG>AAG		FAT tumor suppressor homolog 3							123.0	119.0	120.0					11																	92531077		2002	4165	6167	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531077C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4898C>A	11.37:g.92531077C>A	ENSP00000298047:p.Thr1633Lys	TCGA Ovarian(4;0.039)					p.T1633K	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	4915	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1633			Cadherin 15.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4898C>A		.	.	.	.	.	.	.	.	.	.	c	2.035	-0.421571	0.04734	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.50813	0.73;0.73;0.73	5.81	3.96	0.45880	.	.	.	.	.	T	0.26304	0.0642	N	0.16708	0.43	0.19775	N	0.999952	P	0.36282	0.546	B	0.30716	0.119	T	0.08700	-1.0709	9	0.06099	T	0.92	.	12.8351	0.57770	0.0:0.8678:0.0:0.1322	.	1633	Q8TDW7-3	.	K	1633;1633;1483	ENSP00000298047:T1633K;ENSP00000387040:T1633K;ENSP00000432586:T1483K	ENSP00000298047:T1633K	T	+	2	0	FAT3	92170725	0.003000	0.15002	0.001000	0.08648	0.013000	0.08279	1.747000	0.38298	0.822000	0.34565	-0.127000	0.14921	ACG		0.458	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		20	69	1	0	1.15919e-05	0.008871	1.34185e-05	20	69				
KDM4D	55693	broad.mit.edu	37	11	94731100	94731100	+	Silent	SNP	G	G	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:94731100G>C	ENST00000335080.5	+	3	1396	c.564G>C	c.(562-564)acG>acC	p.T188T	KDM4D_ENST00000536741.1_Silent_p.T188T	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	188	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.T188T(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGAAAACCACGTTTGCTTGGC	0.512																																							uc001pfe.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(562-564)ACG>ACC		jumonji domain containing 2D							147.0	142.0	144.0					11																	94731100		2201	4298	6499	SO:0001819	synonymous_variant	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731100G>C	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.564G>C	11.37:g.94731100G>C							p.T188T	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN			3	1396	+			188			JmjC.		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Silent	SNP	ENST00000335080.5	37	c.564G>C	CCDS8302.1																																																																																				0.512	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039		28	97	0	0	0	0.00632	0	28	97				
MMP12	4321	broad.mit.edu	37	11	102743653	102743653	+	RNA	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:102743653G>T	ENST00000532855.1	-	0	388							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.H98N(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	CTGAAATGATGGACATCGGGG	0.507																																							uc001phk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(292-294)CAT>AAT		matrix metalloproteinase 12 preproprotein	Acetohydroxamic Acid(DB00551)						57.0	57.0	57.0					11																	102743653		1895	4098	5993			4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102743653G>T	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102743653G>T							p.H98N	NM_002426	NP_002417	P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	2	337	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	98					B2R9X8|B7ZLF6|Q2M1L9	Missense_Mutation	SNP	ENST00000532855.1	37	c.292C>A																																																																																					0.507	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		9	27	1	0	1.12685e-05	0.004482	1.31237e-05	9	27				
PDGFD	80310	broad.mit.edu	37	11	103780477	103780477	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr11:103780477T>C	ENST00000393158.2	-	7	1237	c.1058A>G	c.(1057-1059)cAg>cGg	p.Q353R	PDGFD_ENST00000302251.5_Missense_Mutation_p.Q347R			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	353					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.Q353R(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GTGATCCAACTGGATGTCAAC	0.448																																							uc001phq.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(1057-1059)CAG>CGG		platelet derived growth factor D isoform 1							329.0	266.0	287.0					11																	103780477		2202	4299	6501	SO:0001583	missense	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103780477T>C	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.1058A>G	11.37:g.103780477T>C	ENSP00000376865:p.Gln353Arg					PDGFD_uc001php.2_Missense_Mutation_p.Q347R	p.Q353R	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	7	1430	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	353					A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	c.1058A>G	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.585998	0.46110	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	T;T	0.26660	1.72;1.73	5.91	5.91	0.95273	Platelet-derived growth factor (PDGF) (3);	0.184329	0.50627	D	0.000116	T	0.45054	0.1323	L	0.57536	1.79	0.45250	D	0.998255	D;P	0.64830	0.994;0.949	D;P	0.76575	0.988;0.6	T	0.25950	-1.0117	10	0.10902	T	0.67	-21.4141	16.3514	0.83213	0.0:0.0:0.0:1.0	.	353;347	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	R	353;347	ENSP00000376865:Q353R;ENSP00000302193:Q347R	ENSP00000302193:Q347R	Q	-	2	0	PDGFD	103285687	1.000000	0.71417	0.988000	0.46212	0.551000	0.35334	5.829000	0.69316	2.252000	0.74401	0.533000	0.62120	CAG		0.448	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		28	130	0	0	0	0.00632	0	28	130				
FGF23	8074	broad.mit.edu	37	12	4479687	4479687	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr12:4479687A>T	ENST00000237837.1	-	3	723	c.578T>A	c.(577-579)cTg>cAg	p.L193Q		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	193					cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.L193Q(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CCGGGGCTTCAGCACGTTCAG	0.682																																							uc001qmq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(577-579)CTG>CAG		fibroblast growth factor 23 precursor							17.0	22.0	21.0					12																	4479687		2190	4297	6487	SO:0001583	missense	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479687A>T	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.578T>A	12.37:g.4479687A>T	ENSP00000237837:p.Leu193Gln						p.L193Q	NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	724	-			193					Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	c.578T>A	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.172436	0.38315	.	.	ENSG00000118972	ENST00000237837	D	0.97279	-4.32	4.84	3.68	0.42216	.	0.562747	0.18874	N	0.128754	D	0.96213	0.8765	L	0.34521	1.04	0.38987	D	0.959079	D	0.89917	1.0	D	0.85130	0.997	D	0.93689	0.7005	10	0.32370	T	0.25	-10.0855	5.8156	0.18490	0.7353:0.1718:0.0929:0.0	.	193	Q9GZV9	FGF23_HUMAN	Q	193	ENSP00000237837:L193Q	ENSP00000237837:L193Q	L	-	2	0	FGF23	4349948	1.000000	0.71417	0.994000	0.49952	0.012000	0.07955	3.781000	0.55394	0.853000	0.35312	-0.517000	0.04412	CTG		0.682	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			4	36	0	0	0	0.009096	0	4	36				
KCNA1	3736	broad.mit.edu	37	12	5021401	5021401	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr12:5021401C>T	ENST00000382545.3	+	2	1964	c.857C>T	c.(856-858)aCc>aTc	p.T286I	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	286					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.T286I(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	GAGCAGGCCACCTCCCTGGCC	0.542																																							uc001qnh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(856-858)ACC>ATC		potassium voltage-gated channel subfamily A	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						66.0	71.0	69.0					12																	5021401		2203	4300	6503	SO:0001583	missense	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021401C>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.857C>T	12.37:g.5021401C>T	ENSP00000371985:p.Thr286Ile						p.T286I	NM_000217	NP_000208	Q09470	KCNA1_HUMAN			2	1962	+			286					A6NM83|Q3MIQ9	Missense_Mutation	SNP	ENST00000382545.3	37	c.857C>T	CCDS8535.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978846	0.34942	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	D	0.97575	-4.44	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95030	0.8391	L	0.41492	1.28	0.80722	D	1	B	0.19706	0.038	B	0.23018	0.043	D	0.92103	0.5690	10	0.59425	D	0.04	.	18.0083	0.89216	0.0:1.0:0.0:0.0	.	286	Q09470	KCNA1_HUMAN	I	286	ENSP00000371985:T286I	ENSP00000228858:T286I	T	+	2	0	KCNA1	4891662	0.928000	0.31464	0.967000	0.41034	0.959000	0.62525	1.985000	0.40668	2.793000	0.96121	0.655000	0.94253	ACC		0.542	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	NM_000217		25	71	0	0	0	0.004656	0	25	71				
PUS7L	83448	broad.mit.edu	37	12	44148626	44148626	+	Silent	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr12:44148626G>A	ENST00000416848.2	-	2	911	c.423C>T	c.(421-423)gcC>gcT	p.A141A	PUS7L_ENST00000344862.5_Silent_p.A141A|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Silent_p.A141A|PUS7L_ENST00000551923.1_Silent_p.A141A	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	141					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)	p.A141A(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTACATCACAGGCAAAATTAT	0.368																																							uc001rnq.3		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(421-423)GCC>GCT		pseudouridylate synthase 7 homolog (S.							97.0	96.0	96.0					12																	44148626		2203	4299	6502	SO:0001819	synonymous_variant	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148626G>A	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.423C>T	12.37:g.44148626G>A						PUS7L_uc001rnr.3_Silent_p.A141A|PUS7L_uc001rns.3_Silent_p.A141A|PUS7L_uc009zkb.2_Intron	p.A141A	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	912	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	141					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Silent	SNP	ENST00000416848.2	37	c.423C>T	CCDS8743.1																																																																																				0.368	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		14	45	0	0	0	0.00245	0	14	45				
BAZ2A	11176	broad.mit.edu	37	12	57003980	57003980	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr12:57003980A>T	ENST00000551812.1	-	9	1998	c.1805T>A	c.(1804-1806)gTa>gAa	p.V602E	BAZ2A_ENST00000179765.5_Missense_Mutation_p.V570E|BAZ2A_ENST00000379441.3_Missense_Mutation_p.V572E|BAZ2A_ENST00000549884.1_Missense_Mutation_p.V600E	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	602	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.V602E(2)|p.V638E(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GACACTGTGTACCACGTTGCG	0.488																																							uc001slq.1		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(1804-1806)GTA>GAA		bromodomain adjacent to zinc finger domain, 2A							115.0	117.0	116.0					12																	57003980		1981	4150	6131	SO:0001583	missense	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57003980A>T	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.1805T>A	12.37:g.57003980A>T	ENSP00000446880:p.Val602Glu					BAZ2A_uc001slp.1_Missense_Mutation_p.V600E|BAZ2A_uc009zow.1_Missense_Mutation_p.V570E	p.V602E	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN			9	1999	-			602			MBD.		B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.1805T>A	CCDS44924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.870|7.870	0.727999|0.727999	0.15507|0.15507	.|.	.|.	ENSG00000076108|ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884;ENST00000551996|ENST00000547650	D;D;D;D|.	0.95554|.	-3.74;-3.74;-3.74;-3.74|.	4.75|4.75	3.61|3.61	0.41365|0.41365	Methyl-CpG DNA binding (4);DNA-binding, integrase-type (1);|.	0.200061|.	0.42548|.	D|.	0.000698|.	T|T	0.14570|0.14570	0.0352|0.0352	N|N	0.03608|0.03608	-0.345|-0.345	0.25898|0.25898	N|N	0.983387|0.983387	B;B|.	0.17268|.	0.017;0.021|.	B;B|.	0.18871|.	0.013;0.023|.	T|T	0.21759|0.21759	-1.0236|-1.0236	10|5	0.66056|.	D|.	0.02|.	.|.	6.0497|6.0497	0.19779|0.19779	0.7501:0.1639:0.086:0.0|0.7501:0.1639:0.086:0.0	.|.	600;602|.	F8VU39;Q9UIF9|.	.;BAZ2A_HUMAN|.	E|N	572;570;602;600;257|31	ENSP00000368754:V572E;ENSP00000179765:V570E;ENSP00000446880:V602E;ENSP00000447941:V600E|.	ENSP00000179765:V570E|.	V|Y	-|-	2|1	0|0	BAZ2A|BAZ2A	55290247|55290247	0.998000|0.998000	0.40836|0.40836	0.883000|0.883000	0.34634|0.34634	0.001000|0.001000	0.01503|0.01503	1.712000|1.712000	0.37940|0.37940	0.964000|0.964000	0.38108|0.38108	-0.379000|-0.379000	0.06801|0.06801	GTA|TAC		0.488	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		34	92	0	0	0	0.005524	0	34	92				
KIF5A	3798	broad.mit.edu	37	12	57974844	57974844	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr12:57974844G>A	ENST00000455537.2	+	24	2918	c.2644G>A	c.(2644-2646)Gcc>Acc	p.A882T	KIF5A_ENST00000286452.5_Missense_Mutation_p.A793T	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	882					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.A882T(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ACTGAAGGAGGCCAAGGAGGG	0.577																																							uc001sor.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2644-2646)GCC>ACC		kinesin family member 5A							54.0	50.0	52.0					12																	57974844		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57974844G>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2644G>A	12.37:g.57974844G>A	ENSP00000408979:p.Ala882Thr					KIF5A_uc010srr.1_Missense_Mutation_p.A793T	p.A882T	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			24	2852	+			882					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.2644G>A	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	G	35	5.577336	0.96565	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	D;D	0.86769	-2.17;-2.17	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.91573	0.7338	M	0.78344	2.41	0.80722	D	1	D;P	0.54772	0.968;0.938	P;P	0.54401	0.751;0.618	D	0.91964	0.5581	10	0.56958	D	0.05	.	17.7756	0.88506	0.0:0.0:1.0:0.0	.	793;882	B7Z2M7;Q12840	.;KIF5A_HUMAN	T	882;793	ENSP00000408979:A882T;ENSP00000286452:A793T	ENSP00000286452:A793T	A	+	1	0	KIF5A	56261111	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.446000	0.97590	2.814000	0.96858	0.655000	0.94253	GCC		0.577	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		11	20	0	0	0	0.010729	0	11	20				
SYT1	6857	broad.mit.edu	37	12	79689917	79689917	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr12:79689917C>A	ENST00000261205.4	+	7	1200	c.543C>A	c.(541-543)taC>taA	p.Y181*	SYT1_ENST00000457153.2_Nonsense_Mutation_p.Y178*|SYT1_ENST00000552744.1_Nonsense_Mutation_p.Y181*|SYT1_ENST00000393240.3_Nonsense_Mutation_p.Y181*	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	181	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)	p.Y181*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CTGATCCTTACGTGAAAGTGT	0.433																																							uc001sys.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(3)|pancreas(2)|ovary(1)	6						c.(541-543)TAC>TAA		synaptotagmin I							104.0	102.0	103.0					12																	79689917		2203	4300	6503	SO:0001587	stop_gained	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79689917C>A		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.543C>A	12.37:g.79689917C>A	ENSP00000261205:p.Tyr181*					SYT1_uc001syt.2_Nonsense_Mutation_p.Y181*|SYT1_uc001syu.2_Nonsense_Mutation_p.Y178*|SYT1_uc001syv.2_Nonsense_Mutation_p.Y181*	p.Y181*	NM_001135805	NP_001129277	P21579	SYT1_HUMAN			8	1214	+			181			Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 1.		Q6AI31	Nonsense_Mutation	SNP	ENST00000261205.4	37	c.543C>A	CCDS9017.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.09|12.09	1.834323|1.834323	0.32421|0.32421	.|.	.|.	ENSG00000067715|ENSG00000067715	ENST00000549559|ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744;ENST00000446242	.|.	.|.	.|.	5.52|5.52	-7.0|-7.0	0.01599|0.01599	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.27663|.	0.0680|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39121|.	-0.9629|.	3|.	.|0.02654	.|T	.|1	.|.	15.7591|15.7591	0.78063|0.78063	0.0:0.5545:0.0:0.4455|0.0:0.5545:0.0:0.4455	.|.	.|.	.|.	.|.	K|X	83|181;181;178;181;181	.|.	.|ENSP00000261205:Y181X	T|Y	+|+	2|3	0|2	SYT1|SYT1	78214048|78214048	0.311000|0.311000	0.24536|0.24536	0.806000|0.806000	0.32338|0.32338	0.979000|0.979000	0.70002|0.70002	-0.372000|-0.372000	0.07504|0.07504	-1.263000|-1.263000	0.02455|0.02455	-0.956000|-0.956000	0.02647|0.02647	ACG|TAC		0.433	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		11	49	1	0	5.50884e-06	0.013537	6.45514e-06	11	49				
NOS1	4842	broad.mit.edu	37	12	117726019	117726019	+	Missense_Mutation	SNP	C	C	A	rs368611180	byFrequency	TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr12:117726019C>A	ENST00000344089.3	-	6	1728	c.1043G>T	c.(1042-1044)cGg>cTg	p.R348L	NOS1_ENST00000338101.4_Silent_p.T329T|NOS1_ENST00000317775.6_Silent_p.T329T	NM_001204213.1|NM_001204214.1	NP_001191142.1|NP_001191143.1	Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.T329T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CAGTGCATCCCGTTTCCTGGA	0.512																																					Esophageal Squamous(162;1748 2599 51982 52956)	Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)	7						c.(985-987)ACG>ACT		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						111.0	108.0	109.0					12																	117726019		1955	4160	6115	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117726019C>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000344089.3:c.1043G>T	12.37:g.117726019C>A	ENSP00000339862:p.Arg348Leu						p.T329T	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	5	1673	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		329						Silent	SNP	ENST00000344089.3	37	c.987G>T		.	.	.	.	.	.	.	.	.	.	C	12.39	1.924686	0.34002	.	.	ENSG00000089250	ENST00000344089	T	0.08282	3.11	5.93	-3.56	0.04626	.	.	.	.	.	T	0.08537	0.0212	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.36696	-0.9737	6	0.87932	D	0	-11.6477	4.4175	0.11463	0.0795:0.288:0.1693:0.4632	.	.	.	.	L	348	ENSP00000339862:R348L	ENSP00000339862:R348L	R	-	2	0	NOS1	116210402	0.000000	0.05858	0.890000	0.34922	0.487000	0.33371	-3.658000	0.00401	-0.588000	0.05882	-1.008000	0.02478	CGG		0.512	NOS1-201	KNOWN	basic	protein_coding	protein_coding				19	68	1	0	1.96292e-10	0.010504	2.58564e-10	19	68				
KBTBD7	84078	broad.mit.edu	37	13	41766583	41766583	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr13:41766583A>G	ENST00000379483.3	-	1	2119	c.1811T>C	c.(1810-1812)cTt>cCt	p.L604P		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	604								p.L604P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AAACTGCAAAAGGCCTAACAT	0.423																																							uc001uxw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1810-1812)CTT>CCT		kelch repeat and BTB (POZ) domain containing 7							166.0	155.0	159.0					13																	41766583		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41766583A>G	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1811T>C	13.37:g.41766583A>G	ENSP00000368797:p.Leu604Pro					uc001uxv.1_Intron	p.L604P	NM_032138	NP_115514	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	2120	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	604			Kelch 5.		B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.1811T>C	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	A	12.44	1.937922	0.34189	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.74737	-0.87	5.59	5.59	0.84812	.	0.089096	0.46442	U	0.000286	T	0.80768	0.4686	L	0.44542	1.39	0.80722	D	1	D	0.71674	0.998	D	0.81914	0.995	T	0.79804	-0.1649	10	0.38643	T	0.18	.	13.706	0.62639	1.0:0.0:0.0:0.0	.	604	Q8WVZ9	KBTB7_HUMAN	P	604;506	ENSP00000368797:L604P	ENSP00000368797:L604P	L	-	2	0	KBTBD7	40664583	1.000000	0.71417	0.997000	0.53966	0.673000	0.39480	4.985000	0.63845	2.114000	0.64651	0.460000	0.39030	CTT		0.423	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		3	141	0	0	0	0.004672	0	3	141				
PCDH8	5100	broad.mit.edu	37	13	53418865	53418865	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr13:53418865G>T	ENST00000377942.3	-	3	3246	c.3043C>A	c.(3043-3045)Cag>Aag	p.Q1015K	PCDH8_ENST00000338862.4_Missense_Mutation_p.Q918K	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	1015					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.Q1015K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TAGACGCTCTGCAGCCCCACT	0.582																																					GBM(36;25 841 9273 49207)	GBM(36;25 841 9273 49207)	uc001vhi.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(3043-3045)CAG>AAG		protocadherin 8 isoform 1 precursor							158.0	126.0	137.0					13																	53418865		2203	4300	6503	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53418865G>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.3043C>A	13.37:g.53418865G>T	ENSP00000367177:p.Gln1015Lys					PCDH8_uc001vhj.2_Missense_Mutation_p.Q918K	p.Q1015K	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	3	3246	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	1015			Cytoplasmic (Potential).		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.3043C>A	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630241	0.67015	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.57907	0.46;0.37	5.95	5.95	0.96441	.	0.000000	0.41823	D	0.000801	T	0.64843	0.2635	L	0.43152	1.355	0.46609	D	0.999128	D;D	0.67145	0.996;0.993	P;P	0.59056	0.851;0.714	T	0.64850	-0.6310	10	0.72032	D	0.01	.	20.3747	0.98911	0.0:0.0:1.0:0.0	.	918;1015	O95206-2;O95206	.;PCDH8_HUMAN	K	1015;918;541;858	ENSP00000367177:Q1015K;ENSP00000341350:Q918K	ENSP00000341350:Q918K	Q	-	1	0	PCDH8	52316866	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.558000	0.82253	2.817000	0.96982	0.563000	0.77884	CAG		0.582	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		21	106	1	0	1.96292e-10	0.010504	2.58564e-10	21	106				
SLITRK1	114798	broad.mit.edu	37	13	84454982	84454982	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr13:84454982G>C	ENST00000377084.2	-	1	1546	c.661C>G	c.(661-663)Ctc>Gtc	p.L221V		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	221	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.L221V(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTCAGGGAGAGCAGATCACAG	0.542																																							uc001vlk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(661-663)CTC>GTC		slit and trk like 1 protein precursor							66.0	63.0	64.0					13																	84454982		2203	4300	6503	SO:0001583	missense	114798					integral to membrane		g.chr13:84454982G>C	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.661C>G	13.37:g.84454982G>C	ENSP00000366288:p.Leu221Val						p.L221V	NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1547	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	221			Extracellular (Potential).|LRRCT 1.		Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	c.661C>G	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	3.313	-0.140395	0.06669	.	.	ENSG00000178235	ENST00000377084	T	0.54866	0.55	4.72	3.78	0.43462	Cysteine-rich flanking region, C-terminal (1);	0.163060	0.40385	N	0.001119	T	0.31918	0.0812	N	0.17674	0.51	0.42406	D	0.992581	B	0.11235	0.004	B	0.17979	0.02	T	0.11591	-1.0581	10	0.14656	T	0.56	-9.7148	8.0274	0.30444	0.1924:0.0:0.8076:0.0	.	221	Q96PX8	SLIK1_HUMAN	V	221	ENSP00000366288:L221V	ENSP00000366288:L221V	L	-	1	0	SLITRK1	83352983	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.709000	0.47160	2.461000	0.83175	0.561000	0.74099	CTC		0.542	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		11	55	0	0	0	0.010729	0	11	55				
CDH24	64403	broad.mit.edu	37	14	23517504	23517504	+	Silent	SNP	G	G	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr14:23517504G>C	ENST00000267383.5	-	12	2237	c.2145C>G	c.(2143-2145)ggC>ggG	p.G715G	CDH24_ENST00000487137.2_Silent_p.G677G|CDH24_ENST00000397359.3_Silent_p.G715G|CDH24_ENST00000554034.1_Silent_p.G677G|CDH24_ENST00000485922.1_5'UTR			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	715					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)	p.G677G(1)|p.G715G(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		gcgcgggagggccgggcgccg	0.781																																							uc001wil.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(2143-2145)GGC>GGG		cadherin-like 24 isoform 1							14.0	19.0	17.0					14																	23517504		1847	3928	5775	SO:0001819	synonymous_variant	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23517504G>C	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.2145C>G	14.37:g.23517504G>C						CDH24_uc001wik.3_RNA|CDH24_uc010akf.2_Silent_p.G677G	p.G715G	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	13	2405	-	all_cancers(95;3.3e-05)		715			Cytoplasmic (Potential).		D3DS44|Q86UP1|Q9NT84	Silent	SNP	ENST00000267383.5	37	c.2145C>G	CCDS9585.1																																																																																				0.781	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		8	38	0	0	0	0.00308	0	8	38				
DHRS2	10202	broad.mit.edu	37	14	24114489	24114489	+	3'UTR	SNP	T	T	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr14:24114489T>A	ENST00000250383.6	+	0	1346				DHRS2_ENST00000344777.7_Missense_Mutation_p.V294E	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2						C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)	p.V294E(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		TGCGTAGCTGTGGTCCCAGGC	0.597																																							uc001wkt.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(880-882)GTG>GAG		dehydrogenase/reductase member 2 isoform 1							59.0	60.0	60.0					14																	24114489		2203	4300	6503	SO:0001624	3_prime_UTR_variant	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24114489T>A		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.*27T>A	14.37:g.24114489T>A						DHRS2_uc001wku.3_3'UTR|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_3'UTR	p.V294E	NM_182908	NP_878912	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	9	1328	+			Error:Variant_position_missing_in_Q13268_after_alignment					D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	ENST00000250383.6	37	c.881T>A	CCDS9604.1	.	.	.	.	.	.	.	.	.	.	T	7.723	0.697513	0.15106	.	.	ENSG00000100867	ENST00000344777	D	0.83163	-1.69	2.37	-4.74	0.03249	.	1.077850	0.07329	N	0.878900	T	0.69079	0.3071	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.48969	-0.8987	9	0.87932	D	0	.	0.2586	0.00215	0.2775:0.2245:0.14:0.358	.	272	Q13268-2	.	E	294	ENSP00000344674:V294E	ENSP00000344674:V294E	V	+	2	0	DHRS2	23184329	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.032000	0.01426	-2.627000	0.00436	-1.481000	0.00988	GTG		0.597	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		31	87	0	0	0	0.009535	0	31	87				
GZMH	2999	broad.mit.edu	37	14	25075882	25075882	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr14:25075882C>T	ENST00000216338.4	-	5	712	c.668G>A	c.(667-669)gGg>gAg	p.G223E	GZMH_ENST00000557220.2_Missense_Mutation_p.G92E|RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000382548.4_Missense_Mutation_p.G137E	NM_033423.4	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	223	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)	membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)	p.G223E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		TGGAGGTGTCCCTTTTTTGTT	0.517																																							uc001wpr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(667-669)GGG>GAG		granzyme H precursor							130.0	123.0	126.0					14																	25075882		2203	4300	6503	SO:0001583	missense	2999				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	g.chr14:25075882C>T	M72150	CCDS9632.1, CCDS59243.1	14q11.2	2003-10-20			ENSG00000100450	ENSG00000100450			4710	protein-coding gene	gene with protein product		116831		CTSGL2		2049336	Standard	NM_033423		Approved	CGL-2, CCP-X, CTLA1, CSP-C	uc001wpr.2	P20718	OTTHUMG00000140185	ENST00000216338.4:c.668G>A	14.37:g.25075882C>T	ENSP00000216338:p.Gly223Glu					GZMH_uc010aly.1_Missense_Mutation_p.G137E|GZMH_uc010alz.1_3'UTR	p.G223E	NM_033423	NP_219491	P20718	GRAH_HUMAN		GBM - Glioblastoma multiforme(265;0.0267)	5	713	-			223			Peptidase S1.		G3V2C5|Q6XGZ0|Q6XGZ1	Missense_Mutation	SNP	ENST00000216338.4	37	c.668G>A	CCDS9632.1	.	.	.	.	.	.	.	.	.	.	c	15.27	2.783566	0.49891	.	.	ENSG00000100450	ENST00000216338;ENST00000382547;ENST00000382548	D;D	0.94330	-3.4;-2.6	4.53	1.64	0.23874	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90546	0.7037	N	0.17082	0.46	0.09310	N	1	P;P	0.45240	0.54;0.854	B;P	0.57152	0.247;0.814	T	0.81820	-0.0757	9	0.87932	D	0	.	5.0505	0.14505	0.0:0.6289:0.1735:0.1977	.	137;223	Q6XGZ1;P20718	.;GRAH_HUMAN	E	223;92;137	ENSP00000216338:G223E;ENSP00000371988:G137E	ENSP00000216338:G223E	G	-	2	0	GZMH	24145722	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.367000	0.07553	0.219000	0.20840	0.655000	0.94253	GGG		0.517	GZMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276538.2	NM_033423		32	112	0	0	0	0.009535	0	32	112				
PRKD1	5587	broad.mit.edu	37	14	30066795	30066795	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr14:30066795C>T	ENST00000331968.5	-	16	2565	c.2336G>A	c.(2335-2337)gGc>gAc	p.G779D	PRKD1_ENST00000415220.2_Missense_Mutation_p.G787D	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	779	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.G779D(4)|p.G779A(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TGGGAATGTGCCGCTTAGGCT	0.463																																							uc001wqh.2		NA																	6	Substitution - Missense(6)		skin(4)|lung(2)	lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(2335-2337)GGC>GAC		protein kinase D1							155.0	143.0	147.0					14																	30066795		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30066795C>T		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2336G>A	14.37:g.30066795C>T	ENSP00000333568:p.Gly779Asp						p.G779D	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	16	2517	-	Hepatocellular(127;0.0604)		779			Protein kinase.		A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.2336G>A	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982290	0.93044	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.88124	-2.34;-2.34	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95592	0.8567	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96053	0.9033	10	0.87932	D	0	-18.3237	20.0303	0.97534	0.0:1.0:0.0:0.0	.	779	Q15139	KPCD1_HUMAN	D	779;787	ENSP00000333568:G779D;ENSP00000390535:G787D	ENSP00000333568:G779D	G	-	2	0	PRKD1	29136546	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.776000	0.85560	2.794000	0.96219	0.650000	0.86243	GGC		0.463	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		4	107	0	0	0	0.009096	0	4	107				
WDR89	112840	broad.mit.edu	37	14	64066555	64066555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr14:64066555G>A	ENST00000394942.2	-	2	194	c.106C>T	c.(106-108)Caa>Taa	p.Q36*	CTD-2302E22.2_ENST00000553983.1_lincRNA|WDR89_ENST00000267522.3_Nonsense_Mutation_p.Q36*	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	36								p.Q36*(1)		endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		TTTCCTGCTTGGACAGTCTTT	0.348																																							uc001xgh.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(106-108)CAA>TAA		WD repeat domain 89							77.0	80.0	79.0					14																	64066555		2203	4300	6503	SO:0001587	stop_gained	112840							g.chr14:64066555G>A	AF115513	CCDS9759.1	14q23.2	2013-01-09		2006-07-07	ENSG00000140006	ENSG00000140006		"""WD repeat domain containing"""	20489	protein-coding gene	gene with protein product				C14orf150			Standard	NM_080666		Approved	MGC9907	uc001xgi.4	Q96FK6	OTTHUMG00000140340	ENST00000394942.2:c.106C>T	14.37:g.64066555G>A	ENSP00000378399:p.Gln36*					WDR89_uc001xgi.2_Nonsense_Mutation_p.Q36*	p.Q36*	NM_001008726	NP_001008726	Q96FK6	WDR89_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)	3	352	-			36			WD 1.			Nonsense_Mutation	SNP	ENST00000394942.2	37	c.106C>T	CCDS9759.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473958	0.26423	.	.	ENSG00000140006	ENST00000394942;ENST00000267522;ENST00000554717	.	.	.	5.93	4.08	0.47627	.	0.402560	0.23454	N	0.048012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	10.3678	0.44035	0.0:0.1317:0.5948:0.2734	.	.	.	.	X	36	.	ENSP00000267522:Q36X	Q	-	1	0	WDR89	63136308	0.006000	0.16342	0.160000	0.22671	0.081000	0.17604	1.437000	0.34991	0.826000	0.34661	0.655000	0.94253	CAA		0.348	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411879.2	NM_080666		8	117	0	0	0	0.006214	0	8	117				
TTLL5	23093	broad.mit.edu	37	14	76231102	76231102	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr14:76231102G>T	ENST00000298832.9	+	19	1900	c.1695G>T	c.(1693-1695)agG>agT	p.R565S	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000556893.1_Missense_Mutation_p.R116S|TTLL5_ENST00000554510.1_Missense_Mutation_p.R74S|TTLL5_ENST00000557636.1_Missense_Mutation_p.R579S	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	565					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)	p.R565S(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGGCAATGAGGCCAAAATACC	0.498																																							uc001xrx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1693-1695)AGG>AGT		tubulin tyrosine ligase-like family, member 5							96.0	88.0	91.0					14																	76231102		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76231102G>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1695G>T	14.37:g.76231102G>T	ENSP00000298832:p.Arg565Ser					TTLL5_uc010ask.1_Missense_Mutation_p.R579S|TTLL5_uc001xrz.2_Missense_Mutation_p.R140S|TTLL5_uc001xry.1_RNA	p.R565S	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	19	1900	+			565					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.1695G>T	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635707	0.67130	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.26067	3.78;3.92;1.81;1.76	5.29	5.29	0.74685	.	0.875294	0.10389	N	0.680608	T	0.23532	0.0569	L	0.40543	1.245	0.29819	N	0.831015	P;P;B	0.38504	0.493;0.634;0.22	B;B;B	0.31101	0.124;0.085;0.058	T	0.13388	-1.0511	10	0.39692	T	0.17	.	16.7648	0.85521	0.0:0.0:1.0:0.0	.	579;116;565	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	S	252;579;565;116;116;74	ENSP00000450713:R579S;ENSP00000298832:R565S;ENSP00000452524:R116S;ENSP00000451946:R74S	ENSP00000298832:R565S	R	+	3	2	TTLL5	75300855	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.528000	0.45624	2.465000	0.83290	0.579000	0.79373	AGG		0.498	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		8	34	1	0	1.76689e-08	0.006214	2.17727e-08	8	34				
OR4N3P	390539	broad.mit.edu	37	15	22413903	22413903	+	IGR	SNP	C	C	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:22413903C>G								RP11-69H14.6 (30095 upstream) : RP11-2F9.4 (19986 downstream)																							GATGTTGGCTCTGTGGCTTGG	0.502																																							uc001yuf.2		NA																	0					0						c.(202-204)CTG>GTG		RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13;																																				SO:0001628	intergenic_variant	390539							g.chr15:22413903C>G																													15.37:g.22413903C>G							p.L68V	NM_001080841	NP_001074310					1	202	+									Missense_Mutation	SNP		37	c.202C>G																																																																																				0	0.502									18	136	0	0	0	0.008871	0	18	136				
APBA2	321	broad.mit.edu	37	15	29390729	29390729	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:29390729G>T	ENST00000558402.1	+	10	1887	c.1288G>T	c.(1288-1290)Gac>Tac	p.D430Y	APBA2_ENST00000558330.1_Missense_Mutation_p.D418Y|APBA2_ENST00000561069.1_Missense_Mutation_p.D430Y|APBA2_ENST00000411764.1_Missense_Mutation_p.D418Y|APBA2_ENST00000558259.1_Missense_Mutation_p.D430Y			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	430	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.D430Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GACGGAAGTGGACCTCTTCAT	0.438																																							uc001zck.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1288-1290)GAC>TAC		amyloid beta A4 precursor protein-binding,							116.0	110.0	112.0					15																	29390729		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29390729G>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1288G>T	15.37:g.29390729G>T	ENSP00000453293:p.Asp430Tyr					APBA2_uc010azj.2_Missense_Mutation_p.D418Y|APBA2_uc010uat.1_Missense_Mutation_p.D418Y|APBA2_uc001zcl.2_Missense_Mutation_p.D418Y|APBA2_uc001zcm.1_Missense_Mutation_p.D122Y	p.D430Y	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	8	1495	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	430			PID.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1288G>T	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765912	0.90020	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.20881	2.04	4.93	4.93	0.64822	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.51517	0.1679	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.971	D;D;D;P	0.91635	0.997;0.999;0.99;0.887	T	0.59053	-0.7526	10	0.87932	D	0	.	17.5045	0.87741	0.0:0.0:1.0:0.0	.	418;122;418;430	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	Y	418;430;122	ENSP00000409312:D418Y	ENSP00000219865:D430Y	D	+	1	0	APBA2	27178021	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.565000	0.98154	2.406000	0.81754	0.655000	0.94253	GAC		0.438	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		17	54	1	0	8.28177e-16	0.007413	1.20749e-15	17	54				
RYR3	6263	broad.mit.edu	37	15	33962735	33962735	+	Silent	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:33962735G>A	ENST00000389232.4	+	38	5908	c.5838G>A	c.(5836-5838)acG>acA	p.T1946T	RYR3_ENST00000415757.3_Silent_p.T1946T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1946	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.T1946T(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGCAGCCGACGGAGGAGGAGG	0.453																																							uc001zhi.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(5836-5838)ACG>ACA		ryanodine receptor 3							75.0	89.0	85.0					15																	33962735		1953	4136	6089	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33962735G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5838G>A	15.37:g.33962735G>A						RYR3_uc010bar.2_Silent_p.T1946T	p.T1946T	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	38	5908	+		all_lung(180;7.18e-09)	1946			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.5838G>A	CCDS45210.1																																																																																				0.453	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			5	98	0	0	0	0.00308	0	5	98				
SERINC4	619189	broad.mit.edu	37	15	44087738	44087738	+	Splice_Site	SNP	C	C	T	rs74494149	byFrequency	TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:44087738C>T	ENST00000319327.6	-	11	1425	c.1191G>A	c.(1189-1191)ggG>ggA	p.G397G	HYPK_ENST00000406925.1_5'Flank|SERF2_ENST00000594896.1_Intron|SERINC4_ENST00000299969.6_Splice_Site_p.G323D|SERINC4_ENST00000249714.3_Splice_Site_p.G153G|MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000409646.1_Intron|RP11-296A16.1_ENST00000417761.2_3'UTR	NM_001258031.1	NP_001244960.1	A6NH21	SERC4_HUMAN	serine incorporator 4	397					phospholipid biosynthetic process (GO:0008654)	integral component of membrane (GO:0016021)		p.G153G(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		CACCCCTTTGCCCTGGAGAGA	0.557																																							uc010bds.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(457-459)GGG>GGA		serine incorporator 4							79.0	80.0	80.0					15																	44087738		2198	4298	6496	SO:0001630	splice_region_variant	619189				phospholipid biosynthetic process	integral to membrane		g.chr15:44087738C>T	DQ103711	CCDS58360.1	15q15.3	2013-09-25			ENSG00000184716	ENSG00000184716			32237	protein-coding gene	gene with protein product		614550					Standard	NM_001258031		Approved	FLJ40363	uc031qrp.1	A6NH21	OTTHUMG00000060144	ENST00000319327.6:c.1190-1G>A	15.37:g.44087738C>T						ELL3_uc001zsx.1_5'UTR|SERF2_uc010uee.1_3'UTR|C15orf63_uc001ztb.2_Intron|SERF2_uc001zsz.3_3'UTR|MIR1282_hsa-mir-1282|MI0006429_5'Flank|SERINC4_uc001ztc.1_RNA|SERINC4_uc001ztd.1_Missense_Mutation_p.G41D|SERINC4_uc001zte.1_Silent_p.G153G	p.G153G	NM_001033517	NP_001028689	A6NH21	SERC4_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)	8	927	-		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	397					B2RN41|Q3YL75	Silent	SNP	ENST00000319327.6	37	c.459G>A	CCDS58360.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.475	1.096632	0.20552	.	.	ENSG00000184716	ENST00000299969	T	0.40756	1.02	5.91	-0.636	0.11508	.	0.260438	0.31612	N	0.007357	T	0.23330	0.0564	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.04320	-1.0960	9	0.40728	T	0.16	.	2.0978	0.03672	0.1235:0.4836:0.1198:0.2731	.	323	A6NM42	.	D	323	ENSP00000299969:G323D	ENSP00000299969:G323D	G	-	2	0	SERINC4	41875030	0.000000	0.05858	0.097000	0.21041	0.110000	0.19582	-0.449000	0.06812	-0.107000	0.12088	-0.812000	0.03155	GGC		0.557	SERINC4-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133485.2		Silent	4	93	0	0	0	0.009096	0	4	93				
PIGB	9488	broad.mit.edu	37	15	55611455	55611455	+	Silent	SNP	A	A	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:55611455A>C	ENST00000164305.5	+	1	298	c.7A>C	c.(7-9)Agg>Cgg	p.R3R	PIGB_ENST00000569909.1_3'UTR|RP11-139H15.1_ENST00000567948.1_RNA|PIGB_ENST00000539642.1_5'UTR|RAB27A_ENST00000561545.1_5'Flank|RP11-139H15.1_ENST00000565225.1_RNA|RP11-139H15.1_ENST00000436697.2_RNA	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	3					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)	p.R3R(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		AGGGATGAGGAGGCCCCTAAG	0.597																																							uc002act.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(7-9)AGG>CGG		phosphatidylinositol glycan, class B							19.0	23.0	21.0					15																	55611455		1947	4145	6092	SO:0001819	synonymous_variant	9488				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	g.chr15:55611455A>C	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8959	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"""	604122	"""phosphatidylinositol glycan, class B"""			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.7A>C	15.37:g.55611455A>C						uc002acs.2_5'Flank|PIGB_uc010ugg.1_5'UTR	p.R3R	NM_004855	NP_004846	Q92521	PIGB_HUMAN		all cancers(107;0.0255)	1	323	+			3					Q53FF9|Q8WVN7	Silent	SNP	ENST00000164305.5	37	c.7A>C																																																																																					0.597	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855		4	18	0	0	0	0.000602	0	4	18				
PIGB	9488	broad.mit.edu	37	15	55611459	55611459	+	Missense_Mutation	SNP	C	C	A	rs540526125		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:55611459C>A	ENST00000164305.5	+	1	302	c.11C>A	c.(10-12)cCc>cAc	p.P4H	PIGB_ENST00000569909.1_3'UTR|RP11-139H15.1_ENST00000567948.1_RNA|PIGB_ENST00000539642.1_5'UTR|RAB27A_ENST00000561545.1_5'Flank|RP11-139H15.1_ENST00000565225.1_RNA|RP11-139H15.1_ENST00000436697.2_RNA	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	4					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)	p.P4H(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		ATGAGGAGGCCCCTAAGCAAG	0.592													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16259	0.0		0.0	False		,,,				2504	0.0						uc002act.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(10-12)CCC>CAC		phosphatidylinositol glycan, class B							19.0	23.0	22.0					15																	55611459		1942	4149	6091	SO:0001583	missense	9488				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	g.chr15:55611459C>A	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8959	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"""	604122	"""phosphatidylinositol glycan, class B"""			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.11C>A	15.37:g.55611459C>A	ENSP00000164305:p.Pro4His					uc002acs.2_5'Flank|PIGB_uc010ugg.1_5'UTR	p.P4H	NM_004855	NP_004846	Q92521	PIGB_HUMAN		all cancers(107;0.0255)	1	327	+			4					Q53FF9|Q8WVN7	Missense_Mutation	SNP	ENST00000164305.5	37	c.11C>A		.	.	.	.	.	.	.	.	.	.	C	14.45	2.540062	0.45176	.	.	ENSG00000069943	ENST00000164305	T	0.54866	0.55	4.42	0.0217	0.14130	.	3.532980	0.01067	N	0.004756	T	0.33789	0.0875	N	0.08118	0	0.20703	N	0.999865	B	0.29716	0.255	B	0.35312	0.2	T	0.26121	-1.0112	10	0.62326	D	0.03	5.4306	0.8844	0.01241	0.1827:0.41:0.1783:0.2289	.	4	Q92521	PIGB_HUMAN	H	4	ENSP00000164305:P4H	ENSP00000164305:P4H	P	+	2	0	PIGB	53398751	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.114000	0.15520	-0.176000	0.10707	0.591000	0.81541	CCC		0.592	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	NM_004855		3	19	1	0	0.00909568	0.009096	0.00954547	3	19				
TMEM202	338949	broad.mit.edu	37	15	72698971	72698971	+	Silent	SNP	T	T	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:72698971T>C	ENST00000341689.3	+	3	420	c.366T>C	c.(364-366)ttT>ttC	p.F122F	TMEM202_ENST00000567679.1_Missense_Mutation_p.F37S	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	122						integral component of membrane (GO:0016021)		p.F122F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						GGGCCTTCTTTCTCATCTCTG	0.463																																							uc002auq.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(364-366)TTT>TTC		transmembrane protein 202							178.0	157.0	164.0					15																	72698971		2199	4297	6496	SO:0001819	synonymous_variant	338949					integral to membrane		g.chr15:72698971T>C		CCDS32287.1	15q24.1	2007-12-18				ENSG00000187806			33733	protein-coding gene	gene with protein product							Standard	NM_001080462		Approved	FLJ27523	uc002auq.3	A6NGA9		ENST00000341689.3:c.366T>C	15.37:g.72698971T>C						TMEM202_uc002aur.2_RNA	p.F122F	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN			3	366	+			122			Helical; (Potential).			Silent	SNP	ENST00000341689.3	37	c.366T>C	CCDS32287.1																																																																																				0.463	TMEM202-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435756.1	NM_001080462		28	85	0	0	0	0.003271	0	28	85				
FBXO22	26263	broad.mit.edu	37	15	76222283	76222283	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:76222283G>T	ENST00000308275.3	+	6	792	c.687G>T	c.(685-687)aaG>aaT	p.K229N	FBXO22_ENST00000453211.2_Missense_Mutation_p.K229N|FBXO22_ENST00000540507.1_Missense_Mutation_p.K125N	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	229					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.K229N(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ATTGCTGTAAGGTGGGAGCCA	0.428																																							uc002bbk.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(685-687)AAG>AAT		F-box only protein 22 isoform a							201.0	177.0	185.0					15																	76222283		2197	4294	6491	SO:0001583	missense	26263				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	g.chr15:76222283G>T	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.687G>T	15.37:g.76222283G>T	ENSP00000307833:p.Lys229Asn					FBXO22_uc002bbj.1_Missense_Mutation_p.K229N|FBXO22_uc002bbl.2_Missense_Mutation_p.K125N	p.K229N	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN			6	792	+			229					Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Missense_Mutation	SNP	ENST00000308275.3	37	c.687G>T	CCDS10287.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891350	0.52014	.	.	ENSG00000167196	ENST00000308275;ENST00000453211;ENST00000540507	.	.	.	4.84	-1.74	0.08056	.	0.111077	0.64402	D	0.000014	T	0.43299	0.1241	L	0.32530	0.975	0.27976	N	0.936219	D;D	0.76494	0.999;0.979	D;P	0.64144	0.922;0.801	T	0.42292	-0.9460	9	0.38643	T	0.18	-14.2822	10.3019	0.43656	0.5163:0.0:0.4837:0.0	.	229;229	Q8NEZ5;Q8NEZ5-3	FBX22_HUMAN;.	N	229;229;125	.	ENSP00000307833:K229N	K	+	3	2	FBXO22	74009338	0.082000	0.21442	0.531000	0.27976	0.981000	0.71138	0.311000	0.19380	-0.209000	0.10156	-0.259000	0.10710	AAG		0.428	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2	NM_147188		24	103	1	0	5.45024e-15	0.00333	7.76863e-15	24	103				
AKAP13	11214	broad.mit.edu	37	15	86266516	86266516	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:86266516G>A	ENST00000394518.2	+	26	6805	c.6710G>A	c.(6709-6711)aGt>aAt	p.S2237N	AKAP13_ENST00000361243.2_Missense_Mutation_p.S2241N|RP11-158M2.2_ENST00000561417.1_RNA|AKAP13_ENST00000394510.2_Missense_Mutation_p.S482N|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2237	Interaction with ESR1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.S2241N(1)|p.S317N(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CGTGATGGGAGTGTGTTTCTG	0.413																																					Melanoma(94;603 1453 3280 32295 32951)	Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(6709-6711)AGT>AAT		A-kinase anchor protein 13 isoform 2							155.0	127.0	136.0					15																	86266516		2202	4299	6501	SO:0001583	missense	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86266516G>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6710G>A	15.37:g.86266516G>A	ENSP00000378026:p.Ser2237Asn					AKAP13_uc002blu.1_Missense_Mutation_p.S2241N|AKAP13_uc010bnf.1_Missense_Mutation_p.S858N|AKAP13_uc002blw.1_Missense_Mutation_p.S702N|AKAP13_uc002blx.1_Missense_Mutation_p.S482N	p.S2237N	NM_007200	NP_009131	Q12802	AKP13_HUMAN			26	6880	+			2237			Interaction with ESR1.|PH.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.6710G>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795519	0.50208	.	.	ENSG00000170776	ENST00000426424;ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.75589	0.94;0.94;-0.95	5.72	3.71	0.42584	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	T	0.62073	0.2398	N	0.12182	0.205	0.25495	N	0.98761	B;B;B	0.27679	0.154;0.185;0.154	B;B;B	0.41860	0.252;0.368;0.252	T	0.54906	-0.8223	9	0.12766	T	0.61	.	9.4355	0.38637	0.0:0.3041:0.5689:0.1269	.	2217;2237;2241	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	N	317;2241;2237;2240;2216;482	ENSP00000354718:S2241N;ENSP00000378026:S2237N;ENSP00000378018:S482N	ENSP00000354718:S2241N	S	+	2	0	AKAP13	84067520	0.139000	0.22563	0.997000	0.53966	0.976000	0.68499	1.483000	0.35497	1.380000	0.46344	0.655000	0.94253	AGT		0.413	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		5	67	0	0	0	0.000602	0	5	67				
ACAN	176	broad.mit.edu	37	15	89382102	89382102	+	Silent	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:89382102C>A	ENST00000561243.1	+	2	279	c.279C>A	c.(277-279)cgC>cgA	p.R93R	ACAN_ENST00000558207.1_Silent_p.R93R|ACAN_ENST00000352105.7_Silent_p.R93R|ACAN_ENST00000559004.1_Silent_p.R93R|ACAN_ENST00000439576.2_Silent_p.R93R			P16112	PGCA_HUMAN	aggrecan	93	G1-A.|Ig-like V-type.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.R93R(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGAAGGGCGCGTGCGGGTCA	0.622																																							uc010upo.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(277-279)CGC>CGA		aggrecan isoform 2 precursor							131.0	154.0	146.0					15																	89382102		2137	4260	6397	SO:0001819	synonymous_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89382102C>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.279C>A	15.37:g.89382102C>A						ACAN_uc002bmx.2_Silent_p.R93R|ACAN_uc010upp.1_Silent_p.R93R|ACAN_uc002bna.2_RNA	p.R93R	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		3	653	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		93					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	37	c.279C>A	CCDS53970.1																																																																																				0.622	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		25	78	1	0	2.41591e-17	0.004656	3.54953e-17	25	78				
TM2D3	80213	broad.mit.edu	37	15	102191956	102191956	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr15:102191956G>A	ENST00000333202.3	-	2	117	c.112C>T	c.(112-114)Cag>Tag	p.Q38*	TM2D3_ENST00000559107.1_Nonsense_Mutation_p.Q38*|TM2D3_ENST00000428002.2_Intron|TARSL2_ENST00000559492.1_5'Flank|TM2D3_ENST00000561373.1_5'Flank|TM2D3_ENST00000347970.3_Intron	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	38						integral component of membrane (GO:0016021)		p.Q38*(1)		central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTTATTGACTGAGCCAGCGCC	0.448																																							uc002bxi.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(112-114)CAG>TAG		TM2 domain containing 3 isoform a							150.0	156.0	154.0					15																	102191956		2203	4300	6503	SO:0001587	stop_gained	80213					integral to membrane		g.chr15:102191956G>A	AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.112C>T	15.37:g.102191956G>A	ENSP00000330433:p.Gln38*					TM2D3_uc010usg.1_Intron|TM2D3_uc002bxh.2_5'Flank|TM2D3_uc002bxj.2_Intron|TM2D3_uc002bxk.2_5'UTR|TM2D3_uc010ush.1_Nonsense_Mutation_p.Q38*	p.Q38*	NM_078474	NP_510883	Q9BRN9	TM2D3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		2	142	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		38					B2RDK9|Q9H046|Q9H651	Nonsense_Mutation	SNP	ENST00000333202.3	37	c.112C>T	CCDS10393.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250210	0.59212	.	.	ENSG00000184277	ENST00000333202	.	.	.	4.58	3.66	0.41972	.	0.571542	0.17637	N	0.167178	.	.	.	.	.	.	0.32961	D	0.521027	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-7.1736	9.2398	0.37489	0.1036:0.0:0.8964:0.0	.	.	.	.	X	38	.	ENSP00000330433:Q38X	Q	-	1	0	TM2D3	100009479	0.706000	0.27856	0.065000	0.19835	0.419000	0.31324	1.265000	0.33027	1.248000	0.43934	-0.262000	0.10625	CAG		0.448	TM2D3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313623.1	NM_078474		13	180	0	0	0	0.004007	0	13	180				
MMP25	64386	broad.mit.edu	37	16	3107615	3107615	+	Splice_Site	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr16:3107615G>A	ENST00000336577.4	+	7	1243		c.e7+1		RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000597579.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000572930.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25						negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.?(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	TTCTTCAAAGGTGAGTCATTT	0.517																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	uc002cth.2		NA																	1	Unknown(1)		lung(1)		0						c.e7+1		matrix metalloproteinase 25 preproprotein							134.0	116.0	122.0					16																	3107615		2197	4300	6497	SO:0001630	splice_region_variant	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3107615G>A	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.1006+1G>A	16.37:g.3107615G>A						uc002ctj.1_Intron	p.G336_splice	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN			7	1243	+								Q96F04|Q96TE2	Splice_Site	SNP	ENST00000336577.4	37	c.1006_splice	CCDS10492.1	.	.	.	.	.	.	.	.	.	.	g	11.76	1.735979	0.30774	.	.	ENSG00000008516	ENST00000336577	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1822	0.72968	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MMP25	3047616	1.000000	0.71417	0.998000	0.56505	0.757000	0.42996	4.929000	0.63455	2.175000	0.68902	0.306000	0.20318	.		0.517	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468	Intron	8	104	0	0	0	0.004482	0	8	104				
XYLT1	64131	broad.mit.edu	37	16	17211541	17211541	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr16:17211541G>T	ENST00000261381.6	-	11	2603	c.2519C>A	c.(2518-2520)gCg>gAg	p.A840E		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	840					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.A840E(1)|p.A840V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTCAGAGGCGCAACGAGGAA	0.542																																							uc002dfa.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(4)	4						c.(2518-2520)GCG>GAG		xylosyltransferase I							73.0	69.0	71.0					16																	17211541		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17211541G>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2519C>A	16.37:g.17211541G>T	ENSP00000261381:p.Ala840Glu						p.A840E	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			11	2604	-			840			Lumenal (Potential).		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.2519C>A	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542226	0.85917	.	.	ENSG00000103489	ENST00000261381	T	0.04706	3.57	5.11	5.11	0.69529	.	0.097576	0.64402	D	0.000001	T	0.17280	0.0415	L	0.59436	1.845	0.58432	D	0.999997	D	0.71674	0.998	D	0.63192	0.912	T	0.00124	-1.2024	10	0.56958	D	0.05	-14.7591	17.8959	0.88888	0.0:0.0:1.0:0.0	.	840	Q86Y38	XYLT1_HUMAN	E	840	ENSP00000261381:A840E	ENSP00000261381:A840E	A	-	2	0	XYLT1	17119042	0.998000	0.40836	0.243000	0.24186	0.887000	0.51463	4.874000	0.63064	2.515000	0.84797	0.563000	0.77884	GCG		0.542	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		13	40	1	0	4.3838e-07	0.001855	5.31947e-07	13	40				
TMC5	79838	broad.mit.edu	37	16	19451966	19451967	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr16:19451966_19451967GG>TT	ENST00000396229.2	+	3	1355_1356	c.606_607GG>TT	c.(604-609)ctGGga>ctTTga	p.G203*	TMC5_ENST00000542583.2_Nonsense_Mutation_p.G203*|TMC5_ENST00000381414.4_Nonsense_Mutation_p.G203*|TMC5_ENST00000541464.1_Nonsense_Mutation_p.G203*	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	203					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G203*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAGACTCTCTGGGAAAGCCTGA	0.47																																							uc002dgc.3		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(604-609)CTGGGA>CTTTGA		transmembrane channel-like 5 isoform a																																				SO:0001587	stop_gained	79838					integral to membrane		g.chr16:19451966_19451967GG>TT	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	Exception_encountered	16.37:g.19451966_19451967delinsTT	ENSP00000379531:p.Gly203*					TMC5_uc010vaq.1_Nonsense_Mutation_p.G203*|TMC5_uc002dgb.3_Nonsense_Mutation_p.G203*|TMC5_uc010var.1_Nonsense_Mutation_p.G203*	p.G203*	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN			3	1355_1356	+			203			Extracellular (Potential).		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Nonsense_Mutation	DNP	ENST00000396229.2	37	c.606_607GG>TT	CCDS45431.1																																																																																				0.470	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		33	87	0	0	0	0.004672	0	33	87				
ITGAX	3687	broad.mit.edu	37	16	31382711	31382711	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr16:31382711C>G	ENST00000268296.4	+	16	2019	c.1898C>G	c.(1897-1899)cCc>cGc	p.P633R	ITGAX_ENST00000562522.1_Missense_Mutation_p.P633R	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	633					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.P633R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCCGAGATCCCCAGGTCTGCG	0.587																																							uc002ebu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1897-1899)CCC>CGC		integrin alpha X precursor							71.0	54.0	60.0					16																	31382711		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31382711C>G	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1898C>G	16.37:g.31382711C>G	ENSP00000268296:p.Pro633Arg					ITGAX_uc002ebt.2_Missense_Mutation_p.P633R	p.P633R	NM_000887	NP_000878	P20702	ITAX_HUMAN			16	1965	+			633			Extracellular (Potential).		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1898C>G	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909779	0.33721	.	.	ENSG00000140678	ENST00000268296	T	0.44083	0.93	5.11	5.11	0.69529	Integrin alpha-2 (1);	.	.	.	.	T	0.29524	0.0736	N	0.08118	0	0.09310	N	1	P	0.45594	0.862	P	0.44422	0.449	T	0.12889	-1.0530	9	0.35671	T	0.21	.	14.3837	0.66929	0.0:1.0:0.0:0.0	.	633	P20702	ITAX_HUMAN	R	633	ENSP00000268296:P633R	ENSP00000268296:P633R	P	+	2	0	ITGAX	31290212	0.003000	0.15002	0.379000	0.26080	0.022000	0.10575	1.752000	0.38349	2.517000	0.84864	0.650000	0.86243	CCC		0.587	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		10	40	0	0	0	0.008291	0	10	40				
CDH8	1006	broad.mit.edu	37	16	61687897	61687897	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr16:61687897C>T	ENST00000577390.1	-	12	2969	c.2015G>A	c.(2014-2016)gGa>gAa	p.G672E	CDH8_ENST00000299345.6_Missense_Mutation_p.G672E|CDH8_ENST00000577730.1_Missense_Mutation_p.G672E	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	672					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.G672E(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CTCCTCCCCTCCTCCTTCATC	0.398																																							uc002eog.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(2014-2016)GGA>GAA		cadherin 8, type 2 preproprotein							133.0	124.0	127.0					16																	61687897		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687897C>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.2015G>A	16.37:g.61687897C>T	ENSP00000462701:p.Gly672Glu						p.G672E	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	12	2267	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	672			Cytoplasmic (Potential).		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.2015G>A	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	35	5.422585	0.96111	.	.	ENSG00000150394	ENST00000299345	D	0.82619	-1.63	5.7	5.7	0.88788	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.93736	0.7998	M	0.93678	3.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94831	0.7996	10	0.87932	D	0	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	672	P55286	CADH8_HUMAN	E	672	ENSP00000299345:G672E	ENSP00000299345:G672E	G	-	2	0	CDH8	60245398	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.046000	0.71029	2.679000	0.91253	0.655000	0.94253	GGA		0.398	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		36	169	0	0	0	0.007835	0	36	169				
FUK	197258	broad.mit.edu	37	16	70497537	70497537	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr16:70497537C>T	ENST00000288078.6	+	3	326	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W	FUK_ENST00000428974.2_Missense_Mutation_p.R32W|FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Missense_Mutation_p.R32W	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	32						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)	p.R32W(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				ACTGGAAGTGCGGCAGAAGCG	0.617																																							uc002eyy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(94-96)CGG>TGG		fucokinase							67.0	73.0	71.0					16																	70497537		2019	4166	6185	SO:0001583	missense	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70497537C>T		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.94C>T	16.37:g.70497537C>T	ENSP00000288078:p.Arg32Trp					FUK_uc010vmb.1_Missense_Mutation_p.R32W|FUK_uc010cft.2_Missense_Mutation_p.R32W|FUK_uc002eyz.2_Intron	p.R32W	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN			3	152	+		Ovarian(137;0.0694)	32					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	c.94C>T	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084491	0.76642	.	.	ENSG00000157353	ENST00000288078;ENST00000378912;ENST00000428974	T;T;T	0.51574	3.05;2.97;0.7	5.05	3.0	0.34707	.	0.000000	0.64402	D	0.000001	T	0.67287	0.2877	M	0.78637	2.42	0.39927	D	0.97423	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.977;0.999	T	0.71626	-0.4536	10	0.72032	D	0.01	-27.2187	12.664	0.56830	0.4431:0.5569:0.0:0.0	.	32;32;32	B4DEU5;Q8N0W3-2;Q8N0W3	.;.;FUK_HUMAN	W	32	ENSP00000288078:R32W;ENSP00000368192:R32W;ENSP00000408007:R32W	ENSP00000288078:R32W	R	+	1	2	FUK	69055038	0.999000	0.42202	0.995000	0.50966	0.947000	0.59692	1.248000	0.32827	0.575000	0.29434	0.655000	0.94253	CGG		0.617	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		4	151	0	0	0	0.000602	0	4	151				
TP53	7157	broad.mit.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr17:7578235T>C	ENST00000269305.4	-	6	803	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	TP53_ENST00000455263.2_Missense_Mutation_p.Y205C|TP53_ENST00000359597.4_Missense_Mutation_p.Y205C|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.Y205C|TP53_ENST00000413465.2_Missense_Mutation_p.Y205C|TP53_ENST00000445888.2_Missense_Mutation_p.Y205C	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	205	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> 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.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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)	GTCATCCAAATACTCCACACG	0.542		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		117	Substitution - Missense(102)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(1)|Deletion - Frameshift(1)	p.Y205C(55)|p.Y205D(13)|p.Y205S(11)|p.Y205F(8)|p.0?(7)|p.Y205H(5)|p.Y205*(4)|p.Y205N(2)|p.K164_P219del(1)|p.Y205fs*42(1)|p.Y112C(1)|p.Y205fs*43(1)|p.E204fs*39(1)|p.Y73C(1)|p.E204_N210delEYLDDRN(1)	lung(20)|upper_aerodigestive_tract(19)|central_nervous_system(10)|large_intestine(9)|biliary_tract(8)|breast(6)|ovary(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|urinary_tract(5)|bone(5)|soft_tissue(4)|oesophagus(4)|stomach(3)|liver(3)|pancreas(2)|vulva(1)|skin(1)|prostate(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						c.(613-615)TAT>TGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							136.0	121.0	126.0					17																	7578235		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.chr17:7578235T>C	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.614A>G	17.37:g.7578235T>C	ENSP00000269305:p.Tyr205Cys	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.Y205C|TP53_uc002gih.2_Missense_Mutation_p.Y205C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y73C|TP53_uc010cng.1_Missense_Mutation_p.Y73C|TP53_uc002gii.1_Missense_Mutation_p.Y73C|TP53_uc010cnh.1_Missense_Mutation_p.Y205C|TP53_uc010cni.1_Missense_Mutation_p.Y205C|TP53_uc002gij.2_Missense_Mutation_p.Y205C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y112C|TP53_uc002gio.2_Missense_Mutation_p.Y73C|TP53_uc010vug.1_Missense_Mutation_p.Y166C	p.Y205C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	808	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	205		Y -> N (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.614A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.490024	0.64074	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88906	2.99	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.995;0.998;0.995;0.997;0.999;0.997;0.996	D	0.97320	0.9943	10	0.87932	D	0	-5.8058	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	166;205;205;112;205;205;205	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	205;205;205;205;205;205;194;112;73;112;73	ENSP00000410739:Y205C;ENSP00000352610:Y205C;ENSP00000269305:Y205C;ENSP00000398846:Y205C;ENSP00000391127:Y205C;ENSP00000391478:Y205C;ENSP00000425104:Y73C;ENSP00000423862:Y112C	ENSP00000269305:Y205C	Y	-	2	0	TP53	7518960	1.000000	0.71417	0.137000	0.22149	0.045000	0.14185	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	TAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	53	0	0	0	0.009096	0	4	53				
ERBB2	2064	broad.mit.edu	37	17	37876038	37876038	+	Splice_Site	SNP	A	A	T	rs112734930		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr17:37876038A>T	ENST00000269571.5	+	16	2057		c.e16-1		ERBB2_ENST00000584450.1_Splice_Site|ERBB2_ENST00000540147.1_Splice_Site|ERBB2_ENST00000541774.1_Splice_Site|ERBB2_ENST00000445658.2_Splice_Site|ERBB2_ENST00000584601.1_Splice_Site|ERBB2_ENST00000406381.2_Splice_Site			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2						axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TTTCTCCTGCAGCTGTGTGGA	0.587		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																													uc002hso.2		1		Dom	yes		17	17q21.1	2064	A|Mis|O	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			breast|ovarian|other tumour types|NSCLC|gastric		1	Unknown(1)		lung(1)	lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143						c.e16-2		erbB-2 isoform a	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						190.0	153.0	165.0					17																	37876038		2203	4300	6503	SO:0001630	splice_region_variant	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37876038A>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1899-1A>T	17.37:g.37876038A>T		TCGA GBM(5;<1E-08)				ERBB2_uc002hsm.2_Splice_Site_p.S603_splice|ERBB2_uc010cwa.2_Splice_Site_p.S618_splice|ERBB2_uc002hsp.2_Splice_Site_p.S436_splice|ERBB2_uc010cwb.2_Splice_Site_p.S633_splice|ERBB2_uc010wek.1_Splice_Site_p.S357_splice	p.S633_splice	NM_004448	NP_004439	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	16	2137	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)						B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Splice_Site	SNP	ENST00000269571.5	37	c.1899_splice	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.661865	0.67700	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9731	0.64255	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ERBB2	35129564	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	6.278000	0.72614	2.020000	0.59435	0.379000	0.24179	.		0.587	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2		Intron	36	98	0	0	0	0.00623	0	36	98				
IKZF3	22806	broad.mit.edu	37	17	37944531	37944531	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr17:37944531C>A	ENST00000346872.3	-	6	750	c.689G>T	c.(688-690)aGc>aTc	p.S230I	IKZF3_ENST00000377952.2_Intron|IKZF3_ENST00000346243.3_Intron|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000439167.2_Intron|IKZF3_ENST00000535189.1_Missense_Mutation_p.S196I|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000377944.3_Missense_Mutation_p.S87I|IKZF3_ENST00000467757.1_Missense_Mutation_p.S174I|IKZF3_ENST00000351680.3_Intron|IKZF3_ENST00000350532.3_Missense_Mutation_p.S230I|IKZF3_ENST00000377958.2_Missense_Mutation_p.S143I	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	230					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S230I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGGGTCAGTGCTCTGAAGAAA	0.483																																							uc002hsu.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|kidney(2)|skin(2)	6						c.(688-690)AGC>ATC		aiolos isoform 1							134.0	103.0	113.0					17																	37944531		2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37944531C>A	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.689G>T	17.37:g.37944531C>A	ENSP00000344544:p.Ser230Ile					IKZF3_uc002htd.2_Missense_Mutation_p.S196I|IKZF3_uc010cwd.2_Missense_Mutation_p.S87I|IKZF3_uc002hsv.2_Intron|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Intron|IKZF3_uc002hsx.2_Missense_Mutation_p.S174I|IKZF3_uc002hsy.2_Missense_Mutation_p.S230I|IKZF3_uc002hsz.2_Intron|IKZF3_uc002hta.2_Intron|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.S143I|IKZF3_uc002htc.2_5'UTR	p.S230I	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		6	751	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		230					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.689G>T	CCDS11346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.43|16.43	3.120205|3.120205	0.56613|0.56613	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000439016|ENST00000488188;ENST00000377944;ENST00000377958;ENST00000535189;ENST00000350532;ENST00000467757	.|T;T;T;T;T	.|0.10960	.|3.0;2.82;3.1;3.24;4.11	6.04|6.04	1.23|1.23	0.21249|0.21249	.|Zinc finger, C2H2 (1);	.|0.182018	.|0.39146	.|N	.|0.001444	T|T	0.14787|0.14787	0.0357|0.0357	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	.|P;B;P;P;P;P	.|0.49559	.|0.925;0.302;0.488;0.828;0.584;0.863	.|P;B;B;P;B;B	.|0.46629	.|0.466;0.074;0.419;0.522;0.377;0.333	T|T	0.02144|0.02144	-1.1206|-1.1206	5|10	.|0.72032	.|D	.|0.01	-9.4515|-9.4515	6.358|6.358	0.21412|0.21412	0.0:0.5544:0.1358:0.3098|0.0:0.5544:0.1358:0.3098	.|.	.|143;87;196;230;174;230	.|Q9UKT9-9;Q9UKT9-10;Q9UKT9-7;Q9UKT9-4;Q9UKT9-2;Q9UKT9	.|.;.;.;.;.;IKZF3_HUMAN	S|I	184|230;87;143;196;230;174	.|ENSP00000367179:S87I;ENSP00000367194:S143I;ENSP00000438972:S196I;ENSP00000344471:S230I;ENSP00000420463:S174I	.|ENSP00000344471:S230I	A|S	-|-	1|2	0|0	IKZF3|IKZF3	35198057|35198057	0.308000|0.308000	0.24509|0.24509	0.777000|0.777000	0.31699|0.31699	0.575000|0.575000	0.36095|0.36095	0.108000|0.108000	0.15396|0.15396	0.406000|0.406000	0.25560|0.25560	0.563000|0.563000	0.77884|0.77884	GCA|AGC		0.483	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		7	29	1	0	8.12818e-05	0.001984	9.18629e-05	7	29				
KLHL11	55175	broad.mit.edu	37	17	40010662	40010662	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr17:40010662G>A	ENST00000319121.3	-	2	1517	c.1457C>T	c.(1456-1458)tCg>tTg	p.S486L	RP11-156E6.1_ENST00000560400.1_RNA	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	486								p.S486L(1)		NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CTTTGGTGCCGATTCCAAGTT	0.458																																							uc002hyf.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1456-1458)TCG>TTG		kelch-like 11 precursor							96.0	89.0	91.0					17																	40010662		2203	4300	6503	SO:0001583	missense	55175					extracellular region		g.chr17:40010662G>A		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.1457C>T	17.37:g.40010662G>A	ENSP00000314608:p.Ser486Leu						p.S486L	NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN			2	1463	-		Breast(137;0.00156)	486			Kelch 3.			Missense_Mutation	SNP	ENST00000319121.3	37	c.1457C>T	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309043	0.81247	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.81415	-1.49	5.26	5.26	0.73747	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.88588	0.6477	M	0.89601	3.045	0.80722	D	1	D	0.58620	0.983	P	0.50617	0.646	D	0.90208	0.4262	10	0.51188	T	0.08	-7.8989	19.2191	0.93789	0.0:0.0:1.0:0.0	.	486	Q9NVR0	KLH11_HUMAN	L	486;349	ENSP00000314608:S486L	ENSP00000314608:S486L	S	-	2	0	KLHL11	37264188	1.000000	0.71417	0.963000	0.40424	0.993000	0.82548	9.299000	0.96137	2.606000	0.88127	0.585000	0.79938	TCG		0.458	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		37	119	0	0	0	0.003755	0	37	119				
NMT1	4836	broad.mit.edu	37	17	43175845	43175846	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr17:43175845_43175846GG>TT	ENST00000592782.1	+	8	940_941	c.809_810GG>TT	c.(808-810)cGG>cTT	p.R270L	NMT1_ENST00000258960.2_Missense_Mutation_p.R270L			P30419	NMT1_HUMAN	N-myristoyltransferase 1	270					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)	p.R270L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				ATCACCAGGCGGGTTCACCTGG	0.535																																							uc002ihz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(808-810)CGG>CTT		N-myristoyltransferase 1																																				SO:0001583	missense	4836				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	g.chr17:43175845_43175846GG>TT		CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	Exception_encountered	17.37:g.43175845_43175846delinsTT	ENSP00000468424:p.Arg270Leu					NMT1_uc002iia.2_RNA	p.R270L	NM_021079	NP_066565	P30419	NMT1_HUMAN			7	827_828	+		Prostate(33;0.155)	270					A8K7C1|Q9UE09	Missense_Mutation	DNP	ENST00000592782.1	37	c.809_810GG>TT	CCDS11494.1																																																																																				0.535	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449239.1	NM_021079		32	118	0	0	0	0.004672	0	32	118				
SRSF1	6426	broad.mit.edu	37	17	56083844	56083844	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr17:56083844T>C	ENST00000258962.4	-	2	447	c.239A>G	c.(238-240)gAt>gGt	p.D80G	SRSF1_ENST00000582730.2_Missense_Mutation_p.D80G|SRSF1_ENST00000584773.1_Missense_Mutation_p.D80G|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000581497.1_5'Flank|RP11-159D12.5_ENST00000578794.1_5'Flank	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	80	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D80G(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACGGTACCCATCGTAATCATA	0.637																																							uc002ivi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(238-240)GAT>GGT		splicing factor, arginine/serine-rich 1 isoform							30.0	28.0	29.0					17																	56083844		2203	4297	6500	SO:0001583	missense	6426				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	g.chr17:56083844T>C		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.239A>G	17.37:g.56083844T>C	ENSP00000258962:p.Asp80Gly					SFRS1_uc002ivj.2_Missense_Mutation_p.D80G	p.D80G	NM_006924	NP_008855	Q07955	SRSF1_HUMAN		LUAD - Lung adenocarcinoma(1115;0.247)	2	448	-		Colorectal(1115;0.0691)	80			RRM 1.		B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	ENST00000258962.4	37	c.239A>G	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.047427	0.55110	.	.	ENSG00000136450	ENST00000258962	T	0.15139	2.45	5.96	5.96	0.96718	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.09642	0.0237	N	0.03324	-0.35	0.80722	D	1	B;B	0.14805	0.011;0.008	B;B	0.20577	0.03;0.029	T	0.30297	-0.9983	10	0.27082	T	0.32	.	16.4338	0.83864	0.0:0.0:0.0:1.0	.	112;80	Q59FA2;Q07955	.;SRSF1_HUMAN	G	80	ENSP00000258962:D80G	ENSP00000258962:D80G	D	-	2	0	SRSF1	53438843	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	5.596000	0.67570	2.270000	0.75569	0.533000	0.62120	GAT		0.637	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		4	31	0	0	0	0.000602	0	4	31				
SAP30BP	29115	broad.mit.edu	37	17	73702103	73702103	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr17:73702103G>T	ENST00000584667.1	+	10	933	c.676G>T	c.(676-678)Ggc>Tgc	p.G226C	SAP30BP_ENST00000355423.3_Missense_Mutation_p.G210C	NM_013260.6	NP_037392.1			SAP30 binding protein									p.G226C(1)		kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTTTGTGACGGGCACCAAAAA	0.577																																							uc002jpe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(676-678)GGC>TGC		transcriptional regulator protein							113.0	83.0	93.0					17																	73702103		2203	4300	6503	SO:0001583	missense	29115				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73702103G>T	AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.676G>T	17.37:g.73702103G>T	ENSP00000462116:p.Gly226Cys					SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_RNA|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Missense_Mutation_p.G210C	p.G226C	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		10	730	+	all_cancers(13;6.42e-08)		226			Thr-rich.			Missense_Mutation	SNP	ENST00000584667.1	37	c.676G>T	CCDS11726.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214134	0.79352	.	.	ENSG00000161526	ENST00000355423;ENST00000293208	.	.	.	5.69	4.72	0.59763	.	0.045669	0.85682	D	0.000000	T	0.77785	0.4182	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.80765	-0.1236	9	0.87932	D	0	-6.9455	14.6066	0.68483	0.0698:0.0:0.9302:0.0	.	210;226	Q9UHR5-2;Q9UHR5	.;S30BP_HUMAN	C	226;210	.	ENSP00000293208:G210C	G	+	1	0	SAP30BP	71213698	1.000000	0.71417	0.977000	0.42913	0.978000	0.69477	8.925000	0.92832	1.408000	0.46895	0.655000	0.94253	GGC		0.577	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448227.1	NM_013260		7	31	1	0	2.0095e-06	0.001984	2.38394e-06	7	31				
TXNDC2	84203	broad.mit.edu	37	18	9886910	9886910	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr18:9886910A>T	ENST00000306084.6	+	2	633	c.434A>T	c.(433-435)aAa>aTa	p.K145I	TXNDC2_ENST00000536353.2_Missense_Mutation_p.K78I|TXNDC2_ENST00000357775.5_Missense_Mutation_p.K78I|TXNDC2_ENST00000426718.3_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	145	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.K78I(1)|p.K145I(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						ATCCAGCCCAAAGAGAGTAAC	0.562																																							uc002koi.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(433-435)AAA>ATA		thioredoxin domain-containing 2 isoform 2							131.0	134.0	133.0					18																	9886910		2203	4300	6503	SO:0001583	missense	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886910A>T	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.434A>T	18.37:g.9886910A>T	ENSP00000304908:p.Lys145Ile					TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.K78I	p.K145I	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN			2	883	+			145			3.|22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.434A>T	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	N	14.04	2.417980	0.42918	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.27720	1.65;2.23;2.23	3.49	-0.278	0.12894	.	1.290800	0.05786	N	0.609523	T	0.43875	0.1267	L	0.52011	1.625	0.09310	N	1	D	0.55385	0.971	P	0.62298	0.9	T	0.36335	-0.9752	9	.	.	.	.	6.9336	0.24455	0.6618:0.0:0.3382:0.0	.	145	Q86VQ3	TXND2_HUMAN	I	78;78;145;145	ENSP00000437393:K78I;ENSP00000350419:K78I;ENSP00000304908:K145I	.	K	+	2	0	TXNDC2	9876910	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.400000	0.20932	0.105000	0.17753	-0.450000	0.05554	AAA		0.562	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			39	99	0	0	0	0.004878	0	39	99				
DSC2	1824	broad.mit.edu	37	18	28650692	28650692	+	Splice_Site	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr18:28650692C>A	ENST00000280904.6	-	14	2693	c.2250G>T	c.(2248-2250)gtG>gtT	p.V750V	snoU13_ENST00000459603.1_RNA|DSC2_ENST00000251081.6_Splice_Site_p.V750V	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	750					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V750V(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GACTACTTACCACTTTGTCAT	0.368																																							uc002kwl.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(2248-2250)GTG>GTT		desmocollin 2 isoform Dsc2a preproprotein							106.0	109.0	108.0					18																	28650692		2203	4300	6503	SO:0001630	splice_region_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28650692C>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.2250+1G>T	18.37:g.28650692C>A						DSC2_uc002kwk.3_Silent_p.V750V	p.V750V	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		14	2704	-			750			Cytoplasmic (Potential).			Silent	SNP	ENST00000280904.6	37	c.2250G>T	CCDS11892.1																																																																																				0.368	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949	Silent	16	48	1	0	5.01169e-05	0.00499	5.69782e-05	16	48				
CELF4	56853	broad.mit.edu	37	18	34853003	34853003	+	Missense_Mutation	SNP	C	C	G	rs530020703	byFrequency	TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr18:34853003C>G	ENST00000591282.1	-	7	924	c.925G>C	c.(925-927)Gcc>Ccc	p.A309P	CELF4_ENST00000601019.1_Missense_Mutation_p.A307P|CELF4_ENST00000420428.2_Missense_Mutation_p.A309P|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000334919.5_Missense_Mutation_p.A299P|CELF4_ENST00000588597.1_Missense_Mutation_p.A298P|CELF4_ENST00000361795.5_Missense_Mutation_p.A307P|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000412753.1_Missense_Mutation_p.A308P|CELF4_ENST00000591287.1_Missense_Mutation_p.A308P|CELF4_ENST00000603232.1_Missense_Mutation_p.A308P			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	309	Ala-rich.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.A309P(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						ATAGGTGCGGCCGCCAGGCCA	0.657																																							uc002lae.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(925-927)GCC>CCC		bruno-like 4, RNA binding protein isoform 1							27.0	31.0	29.0					18																	34853003		2203	4296	6499	SO:0001583	missense	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34853003C>G	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.925G>C	18.37:g.34853003C>G	ENSP00000464794:p.Ala309Pro					CELF4_uc010dnd.1_Missense_Mutation_p.A307P|CELF4_uc002lag.2_Missense_Mutation_p.A299P|CELF4_uc002laf.2_Missense_Mutation_p.A304P|CELF4_uc002lai.2_Missense_Mutation_p.A294P|CELF4_uc002lah.1_Missense_Mutation_p.A34P|CELF4_uc002laj.1_Missense_Mutation_p.G144A	p.A309P	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			7	1321	-			309			Ala-rich.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	c.925G>C	CCDS32818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.170813|4.170813	0.78452|0.78452	.|.	.|.	ENSG00000101489|ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919|ENST00000361683	T;T|.	0.78126|.	-1.04;-1.15|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Nucleotide-binding, alpha-beta plait (1);|.	0.155639|.	0.56097|.	D|.	0.000026|.	T|T	0.69079|0.69079	0.3071|0.3071	L|L	0.58354|0.58354	1.805|1.805	0.50813|0.50813	D|D	0.999891|0.999891	B;P;P;B;B;B|.	0.47409|.	0.115;0.895;0.736;0.09;0.026;0.015|.	B;B;P;B;B;B|.	0.45099|.	0.238;0.446;0.469;0.075;0.114;0.043|.	T|T	0.61520|0.61520	-0.7046|-0.7046	10|6	0.44086|0.13853	T|T	0.13|0.58	-7.8152|-7.8152	18.9627|18.9627	0.92682|0.92682	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	307;298;34;299;308;309|.	Q9BZC1-3;B4DHA8;A0PK06;Q9BZC1-5;Q9BZC1-2;Q9BZC1|.	.;.;.;.;.;CELF4_HUMAN|.	P|A	309;308;307;299|191	ENSP00000406823:A308P;ENSP00000335631:A299P|.	ENSP00000335631:A299P|ENSP00000355189:G191A	A|G	-|-	1|2	0|0	CELF4|CELF4	33107001|33107001	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.231000|7.231000	0.78106|0.78106	2.715000|2.715000	0.92844|0.92844	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.657	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		4	50	0	0	0	0.009096	0	4	50				
GALR1	2587	broad.mit.edu	37	18	74980579	74980579	+	Silent	SNP	A	A	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr18:74980579A>G	ENST00000299727.3	+	3	771	c.771A>G	c.(769-771)ggA>ggG	p.G257G		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	257					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.G257G(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TGGTGTTTGGAATCTCCTGGC	0.557																																							uc002lms.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(769-771)GGA>GGG		galanin receptor 1							127.0	129.0	128.0					18																	74980579		2203	4300	6503	SO:0001819	synonymous_variant	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74980579A>G	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.771A>G	18.37:g.74980579A>G							p.G257G	NM_001480	NP_001471	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	3	1268	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	257			Helical; Name=6; (Potential).		Q4VBL7	Silent	SNP	ENST00000299727.3	37	c.771A>G	CCDS12012.1																																																																																				0.557	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			26	170	0	0	0	0.012213	0	26	170				
GALR1	2587	broad.mit.edu	37	18	74980858	74980858	+	Nonstop_Mutation	SNP	A	A	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr18:74980858A>C	ENST00000299727.3	+	3	1050	c.1050A>C	c.(1048-1050)tgA>tgC	p.*350C		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	0					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.*350C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CTCATGTGTGATAAAAGATAG	0.383																																							uc002lms.3		NA																	1	Nonstop extension(1)		lung(1)	lung(1)	1						c.(1048-1050)TGA>TGC		galanin receptor 1							53.0	56.0	55.0					18																	74980858		2181	4282	6463	SO:0001578	stop_lost	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74980858A>C	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.1050A>C	18.37:g.74980858A>C	ENSP00000299727:p.*350Cysext*?						p.*350C	NM_001480	NP_001471	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	3	1547	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	350					Q4VBL7	Nonstop_Mutation	SNP	ENST00000299727.3	37	c.1050A>C	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.508631	0.44660	.	.	ENSG00000166573	ENST00000299727	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.20403	N	0.999902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2456	0.60022	1.0:0.0:0.0:0.0	.	.	.	.	C	350	.	.	X	+	3	0	GALR1	73109846	1.000000	0.71417	0.019000	0.16419	0.068000	0.16541	6.565000	0.73974	1.771000	0.52183	0.373000	0.22412	TGA		0.383	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			8	114	0	0	0	0.004482	0	8	114				
XAB2	56949	broad.mit.edu	37	19	7687539	7687539	+	Silent	SNP	C	C	A	rs375113742		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr19:7687539C>A	ENST00000358368.4	-	11	1417	c.1380G>T	c.(1378-1380)acG>acT	p.T460T	XAB2_ENST00000534844.1_Silent_p.T457T	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	460					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.T457T(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CAGGCAGCGCCGTGGCCTTCT	0.682								Direct reversal of damage;Nucleotide excision repair (NER)																															uc002mgx.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|breast(1)|skin(1)	4						c.(1378-1380)ACG>ACT	Direct_reversal_of_damage|NER	XPA binding protein 2							31.0	33.0	32.0					19																	7687539		2203	4297	6500	SO:0001819	synonymous_variant	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7687539C>A	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1380G>T	19.37:g.7687539C>A							p.T460T	NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN			11	1406	-			460					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	ENST00000358368.4	37	c.1380G>T	CCDS32892.1																																																																																				0.682	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		19	50	1	0	2.4624e-09	0.008871	3.0942e-09	19	50				
KEAP1	9817	broad.mit.edu	37	19	10600006	10600006	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr19:10600006C>A	ENST00000171111.5	-	5	2117	c.1570G>T	c.(1570-1572)Ggc>Tgc	p.G524C	KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.G524C|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	524					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.G524C(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CCATCATAGCCCCCAGCAGCA	0.582																																							uc002moq.1		NA																	2	Substitution - Missense(2)	p.G524C(1)	lung(2)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(1570-1572)GGC>TGC		kelch-like ECH-associated protein 1							74.0	57.0	63.0					19																	10600006		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10600006C>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1570G>T	19.37:g.10600006C>A	ENSP00000171111:p.Gly524Cys					KEAP1_uc002mop.1_Intron|KEAP1_uc002mor.1_Missense_Mutation_p.G524C	p.G524C	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		5	1726	-			524			Kelch 5.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1570G>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683907	0.68157	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.99494	-6.01;-6.01	5.73	5.73	0.89815	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	H	0.99855	4.85	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96570	0.9422	10	0.87932	D	0	.	17.444	0.87573	0.0:1.0:0.0:0.0	.	524	Q14145	KEAP1_HUMAN	C	524	ENSP00000171111:G524C;ENSP00000377245:G524C	ENSP00000171111:G524C	G	-	1	0	KEAP1	10461006	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	5.380000	0.66202	2.726000	0.93360	0.585000	0.79938	GGC		0.582	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		11	24	1	0	0.000978159	0.010729	0.00107993	11	24				
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622																																							uc002mpz.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(604-606)GCC>GTC		coactivator-associated arginine							319.0	260.0	280.0					19																	11022906		2203	4300	6503	SO:0001583	missense	10498				cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	g.chr19:11022906C>T	AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.605C>T	19.37:g.11022906C>T	ENSP00000325690:p.Ala202Val					CARM1_uc010dxn.2_RNA|CARM1_uc002mqa.2_5'UTR	p.A202V	NM_199141	NP_954592	Q86X55	CARM1_HUMAN			5	731	+			202					A6NN38	Missense_Mutation	SNP	ENST00000327064.4	37	c.605C>T	CCDS12250.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061915	0.93846	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.28666	1.6;1.6	5.67	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	H	0.96142	3.775	0.80722	D	1	D	0.57571	0.98	P	0.53809	0.735	T	0.76482	-0.2943	10	0.87932	D	0	-2.6238	14.9481	0.71047	0.1444:0.8556:0.0:0.0	.	202	Q86X55	CARM1_HUMAN	V	202	ENSP00000325690:A202V;ENSP00000340934:A202V	ENSP00000325690:A202V	A	+	2	0	CARM1	10883906	1.000000	0.71417	0.005000	0.12908	0.991000	0.79684	7.335000	0.79234	1.386000	0.46466	0.655000	0.94253	GCC		0.622	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452625.1	XM_032719		5	267	0	0	0	0.001168	0	5	267				
CD22	933	broad.mit.edu	37	19	35829190	35829190	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr19:35829190A>C	ENST00000085219.5	+	6	1171	c.1105A>C	c.(1105-1107)Aat>Cat	p.N369H	CD22_ENST00000594250.1_Intron|CD22_ENST00000536635.2_Intron|CD22_ENST00000419549.2_Missense_Mutation_p.N197H|CD22_ENST00000341773.6_Intron|CD22_ENST00000270311.6_Missense_Mutation_p.N249H|CD22_ENST00000544992.2_Missense_Mutation_p.N369H	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	369	Ig-like C2-type 3.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.N369H(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTGGTACCACAATGGGAAAGA	0.502																																					Ovarian(42;1009 1133 23674 26041)	Ovarian(42;1009 1133 23674 26041)	uc010edt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|breast(1)	9						c.(1105-1107)AAT>CAT		CD22 molecule precursor	OspA lipoprotein(DB00045)						165.0	139.0	148.0					19																	35829190		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35829190A>C	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1105A>C	19.37:g.35829190A>C	ENSP00000085219:p.Asn369His					CD22_uc010xst.1_Missense_Mutation_p.N197H|CD22_uc010edu.2_Intron|CD22_uc010edv.2_Missense_Mutation_p.N369H|CD22_uc002nzb.3_Intron|CD22_uc010edx.2_RNA	p.N369H	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		6	1182	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		369			Extracellular (Potential).|Ig-like C2-type 3.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.1105A>C	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.383881	0.42308	.	.	ENSG00000012124	ENST00000085219;ENST00000544992;ENST00000270311;ENST00000419549	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	4.88	3.79	0.43588	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.125321	0.36268	N	0.002691	D	0.90604	0.7054	M	0.93328	3.405	0.32040	N	0.59835	P;D;D	0.65815	0.758;0.969;0.995	P;P;D	0.65773	0.834;0.81;0.938	D	0.89928	0.4064	10	0.62326	D	0.03	.	4.2949	0.10897	0.8158:0.0:0.1842:0.0	.	197;369;369	Q32M46;F5GYU4;P20273	.;.;CD22_HUMAN	H	369;369;249;197	ENSP00000085219:N369H;ENSP00000441237:N369H;ENSP00000270311:N249H;ENSP00000403822:N197H	ENSP00000085219:N369H	N	+	1	0	CD22	40521030	0.878000	0.30173	0.981000	0.43875	0.220000	0.24768	0.491000	0.22419	1.829000	0.53265	0.482000	0.46254	AAT		0.502	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		25	79	0	0	0	0.005443	0	25	79				
HNRNPUL1	11100	broad.mit.edu	37	19	41807447	41807447	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr19:41807447G>T	ENST00000392006.3	+	11	1698	c.1525G>T	c.(1525-1527)Gtt>Ttt	p.V509F	HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.V395F|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.V409F|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.V409F|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.V409F|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.V509F|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.V420F	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	509	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.V509F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TTAGACAAATGTTTATGGGTC	0.443																																							uc002oqb.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1525-1527)GTT>TTT		heterogeneous nuclear ribonucleoprotein U-like 1							125.0	117.0	120.0					19																	41807447		2203	4300	6503	SO:0001583	missense	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41807447G>T	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1525G>T	19.37:g.41807447G>T	ENSP00000375863:p.Val509Phe					CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.V409F|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.V409F|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.V509F|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.V395F|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.V409F|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.V409F|HNRNPUL1_uc010eho.2_Missense_Mutation_p.V409F|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.V409F|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.V365F|HNRNPUL1_uc002oqf.3_5'Flank	p.V509F	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN			11	1814	+			509			Necessary for interaction with TP53.|Necessary for interaction with BRD7 and transcriptional activation.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	c.1525G>T	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	G	33	5.210173	0.95069	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.71392	0.3334	M	0.87971	2.92	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;0.998;1.0;0.999;0.999;0.997	D;D;D;D;D;D	0.85130	0.994;0.994;0.991;0.988;0.997;0.99	T	0.75065	-0.3449	10	0.87932	D	0	-12.884	19.1799	0.93619	0.0:0.0:1.0:0.0	.	420;409;509;395;509;409	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;HNRL1_HUMAN;.	F	409;509;395;420	ENSP00000340857:V409F;ENSP00000375863:V509F;ENSP00000367460:V395F;ENSP00000263367:V420F	ENSP00000263367:V420F	V	+	1	0	HNRNPUL1	46499287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.808000	0.99193	2.833000	0.97629	0.650000	0.86243	GTT		0.443	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		36	120	1	0	6.53348e-20	0.003755	9.6736e-20	36	120				
ZNF285	26974	broad.mit.edu	37	19	44896581	44896581	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr19:44896581A>T	ENST00000330997.4	-	3	129	c.65T>A	c.(64-66)cTg>cAg	p.L22Q	ZNF285_ENST00000591679.1_Missense_Mutation_p.L29Q|CTC-512J12.6_ENST00000588212.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF285_ENST00000544719.2_Missense_Mutation_p.L22Q	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	22	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)	p.L22Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CAATAGTGCCAGCTCTTCCTT	0.448																																							uc002ozd.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(64-66)CTG>CAG		zinc finger protein 285							140.0	123.0	129.0					19																	44896581		2203	4300	6503	SO:0001583	missense	26974				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44896581A>T	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.65T>A	19.37:g.44896581A>T	ENSP00000333595:p.Leu22Gln					ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.L29Q	p.L22Q	NM_152354	NP_689567	Q96NJ3	ZN285_HUMAN			3	152	-			22			KRAB.		Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	c.65T>A	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.200561	0.79015	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.01725	4.67	3.07	1.91	0.25777	Krueppel-associated box (4);	.	.	.	.	T	0.05914	0.0154	L	0.55990	1.75	0.25275	N	0.989481	D;D	0.89917	1.0;0.996	D;D	0.74674	0.984;0.975	T	0.30822	-0.9965	9	0.54805	T	0.06	.	6.734	0.23399	0.5939:0.4061:0.0:0.0	.	46;22	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	Q	45;22	ENSP00000333595:L22Q	ENSP00000333595:L22Q	L	-	2	0	ZNF285	49588421	0.981000	0.34729	0.764000	0.31436	0.884000	0.51177	1.565000	0.36386	1.420000	0.47138	0.369000	0.22263	CTG		0.448	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354		35	108	0	0	0	0.003271	0	35	108				
NLRP7	199713	broad.mit.edu	37	19	55445884	55445884	+	Missense_Mutation	SNP	C	C	A	rs150034626	byFrequency	TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr19:55445884C>A	ENST00000590030.1	-	6	2484	c.2444G>T	c.(2443-2445)cGc>cTc	p.R815L	NLRP7_ENST00000588756.1_Missense_Mutation_p.R815L|NLRP7_ENST00000328092.5_Missense_Mutation_p.R787L|NLRP7_ENST00000448121.2_Missense_Mutation_p.R787L|NLRP7_ENST00000340844.2_Missense_Mutation_p.R815L|NLRP7_ENST00000446217.1_Missense_Mutation_p.R843L|NLRP7_ENST00000592784.1_Missense_Mutation_p.R815L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	815							ATP binding (GO:0005524)	p.R815L(1)|p.R787L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTGTTTTGGGCGTGTCATGGT	0.512																																							uc002qih.3		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(2443-2445)CGC>CTC		NACHT, leucine rich repeat and PYD containing 7							173.0	146.0	155.0					19																	55445884		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55445884C>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.2444G>T	19.37:g.55445884C>A	ENSP00000465520:p.Arg815Leu					NLRP7_uc002qig.3_Missense_Mutation_p.R787L|NLRP7_uc002qii.3_Missense_Mutation_p.R815L|NLRP7_uc010esk.2_Missense_Mutation_p.R815L|NLRP7_uc010esl.2_Missense_Mutation_p.R843L	p.R815L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	7	2520	-			815					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.2444G>T	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	c	7.006	0.555914	0.13436	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T	0.52983	0.64;0.64;2.65	2.28	0.156	0.14910	.	.	.	.	.	T	0.21761	0.0524	N	0.03608	-0.345	0.09310	N	1	B;B;B;B	0.18166	0.026;0.003;0.005;0.002	B;B;B;B	0.23150	0.044;0.001;0.018;0.001	T	0.19128	-1.0315	9	0.48119	T	0.1	.	4.5569	0.12141	0.0:0.3249:0.0:0.6751	.	843;815;815;787	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	L	815;787;815;843;582	ENSP00000409137:R787L;ENSP00000339491:R815L;ENSP00000414273:R843L	ENSP00000329568:R815L	R	-	2	0	NLRP7	60137696	0.940000	0.31905	0.012000	0.15200	0.001000	0.01503	1.389000	0.34453	-0.047000	0.13423	-1.349000	0.01238	CGC		0.512	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		28	97	1	0	6.07407e-21	0.007291	9.06366e-21	28	97				
TNNI3	7137	broad.mit.edu	37	19	55666180	55666180	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr19:55666180G>A	ENST00000344887.5	-	6	443	c.301C>T	c.(301-303)Cac>Tac	p.H101Y	TNNI3_ENST00000590463.1_5'UTR|TNNI3_ENST00000588882.1_Missense_Mutation_p.H76Y|CTD-2587H24.4_ENST00000587871.1_3'UTR	NM_000363.4	NP_000354.4	P19429	TNNI3_HUMAN	troponin I type 3 (cardiac)	101					cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|heart contraction (GO:0060047)|heart development (GO:0007507)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|regulation of smooth muscle contraction (GO:0006940)|regulation of systemic arterial blood pressure by ischemic conditions (GO:0001980)|vasculogenesis (GO:0001570)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|troponin complex (GO:0005861)	actin binding (GO:0003779)|calcium channel inhibitor activity (GO:0019855)|calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|troponin C binding (GO:0030172)|troponin T binding (GO:0031014)	p.H101Y(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ACACGGGCGTGGAGCTGTCGG	0.572																																							uc002qjg.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(301-303)CAC>TAC		troponin I, cardiac							119.0	117.0	118.0					19																	55666180		2118	4229	6347	SO:0001583	missense	7137				cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding	g.chr19:55666180G>A	M64247	CCDS42628.1	19q13.4	2014-09-17	2005-09-12			ENSG00000129991			11947	protein-coding gene	gene with protein product		191044	"""troponin I, cardiac"", ""cardiomyopathy, dilated 2A (autosomal recessive)"""	CMD2A		9605869, 9241277, 10806205	Standard	NM_000363		Approved	TNNC1, CMH7	uc002qjg.4	P19429		ENST00000344887.5:c.301C>T	19.37:g.55666180G>A	ENSP00000341838:p.His101Tyr					TNNI3_uc010yft.1_Missense_Mutation_p.H93Y	p.H101Y	NM_000363	NP_000354	P19429	TNNI3_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	6	301	-			101						Missense_Mutation	SNP	ENST00000344887.5	37	c.301C>T	CCDS42628.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016897	0.75161	.	.	ENSG00000129991	ENST00000344887	D	0.95272	-3.66	4.41	4.41	0.53225	.	0.000000	0.64402	D	0.000018	D	0.96470	0.8848	M	0.62016	1.91	0.58432	D	0.999995	D	0.89917	1.0	D	0.85130	0.997	D	0.96799	0.9588	10	0.59425	D	0.04	-31.0124	16.1312	0.81442	0.0:0.0:1.0:0.0	.	101	P19429	TNNI3_HUMAN	Y	101	ENSP00000341838:H101Y	ENSP00000341838:H101Y	H	-	1	0	TNNI3	60357992	1.000000	0.71417	0.780000	0.31762	0.943000	0.58893	7.662000	0.83803	2.198000	0.70561	0.484000	0.47621	CAC		0.572	TNNI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452098.1			10	28	0	0	0	0.006214	0	10	28				
ZFP28	140612	broad.mit.edu	37	19	57066566	57066566	+	Silent	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr19:57066566G>A	ENST00000301318.3	+	8	2483	c.2412G>A	c.(2410-2412)aaG>aaA	p.K804K	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	804					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K804K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		ATCAACATAAGAGAGTTCATA	0.378																																					Ovarian(124;554 1662 19430 21141 52494)	Ovarian(124;554 1662 19430 21141 52494)	uc002qnj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2410-2412)AAG>AAA		zinc finger protein 28							118.0	119.0	119.0					19																	57066566		2203	4300	6503	SO:0001819	synonymous_variant	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57066566G>A		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.2412G>A	19.37:g.57066566G>A						uc002qnk.1_Intron	p.K804K	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	2483	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	804			C2H2-type 14.		A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Silent	SNP	ENST00000301318.3	37	c.2412G>A	CCDS12946.1																																																																																				0.378	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828		4	140	0	0	0	0.009096	0	4	140				
SLC30A6	55676	broad.mit.edu	37	2	32422894	32422894	+	Splice_Site	SNP	A	A	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr2:32422894A>G	ENST00000282587.5	+	10	701	c.664A>G	c.(664-666)Aat>Gat	p.N222D	SLC30A6_ENST00000435660.1_Splice_Site_p.N222D|SLC30A6_ENST00000357055.3_Splice_Site_p.N25D|SLC30A6_ENST00000538303.1_Splice_Site_p.N193D|SLC30A6_ENST00000406369.1_Splice_Site_p.N148D|SLC30A6_ENST00000379343.2_Splice_Site_p.N262D	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	222					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)	p.N222D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CATTGAAATTAAGTGAGTATT	0.373																																							uc002roe.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(664-666)AAT>GAT		solute carrier family 30 (zinc transporter),							99.0	93.0	95.0					2																	32422894		2203	4300	6503	SO:0001630	splice_region_variant	55676					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	g.chr2:32422894A>G	AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.665+1A>G	2.37:g.32422894A>G						SLC30A6_uc002rof.1_Missense_Mutation_p.N262D|SLC30A6_uc010ymw.1_Missense_Mutation_p.N193D|SLC30A6_uc010ezr.1_Missense_Mutation_p.N222D|SLC30A6_uc002rog.1_Missense_Mutation_p.N25D|SLC30A6_uc010ezs.1_Missense_Mutation_p.N148D|SLC30A6_uc002roh.1_Missense_Mutation_p.N25D	p.N222D	NM_017964	NP_060434	Q6NXT4	ZNT6_HUMAN			10	701	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		222			Extracellular (Potential).		A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	ENST00000282587.5	37	c.664A>G	CCDS1780.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.634551	0.47049	.	.	ENSG00000152683	ENST00000379343;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000357055;ENST00000406369	T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.82	4.63	0.57726	.	0.092722	0.64402	D	0.000001	T	0.57169	0.2035	L	0.49350	1.555	0.51482	D	0.999929	B;B;B;B	0.26041	0.024;0.14;0.022;0.085	B;B;B;B	0.30782	0.026;0.068;0.088;0.12	T	0.52381	-0.8583	10	0.34782	T	0.22	-19.9011	12.1454	0.54020	0.8566:0.1434:0.0:0.0	.	193;222;262;222	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	D	262;222;222;193;25;148	ENSP00000368648:N262D;ENSP00000282587:N222D;ENSP00000399005:N222D;ENSP00000440678:N193D;ENSP00000349563:N25D;ENSP00000384041:N148D	ENSP00000282587:N222D	N	+	1	0	SLC30A6	32276398	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.496000	0.90485	0.994000	0.38892	0.528000	0.53228	AAT		0.373	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2		Missense_Mutation	17	55	0	0	0	0.006122	0	17	55				
MYO7B	4648	broad.mit.edu	37	2	128347795	128347795	+	Silent	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr2:128347795G>A	ENST00000409816.2	+	15	2015	c.1983G>A	c.(1981-1983)aaG>aaA	p.K661K	MYO7B_ENST00000428314.1_Silent_p.K661K|MYO7B_ENST00000389524.4_Silent_p.K661K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	661	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K661K(2)		breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ATGAGTACAAGAAGCCGCTGG	0.552																																							uc002top.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(1981-1983)AAG>AAA		myosin VIIB							45.0	47.0	47.0					2																	128347795		1961	4153	6114	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128347795G>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.1983G>A	2.37:g.128347795G>A							p.K661K	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	16	2036	+	Colorectal(110;0.1)		661			Myosin head-like.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.1983G>A	CCDS46405.1																																																																																				0.552	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		9	33	0	0	0	0.010729	0	9	33				
ZNF804A	91752	broad.mit.edu	37	2	185802719	185802719	+	Nonsense_Mutation	SNP	G	G	T	rs554410119		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr2:185802719G>T	ENST00000302277.6	+	4	3190	c.2596G>T	c.(2596-2598)Gaa>Taa	p.E866*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	866							metal ion binding (GO:0046872)	p.E866*(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGCAAAAATCGAAAGGAACTC	0.353																																							uc002uph.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2596-2598)GAA>TAA		zinc finger protein 804A							77.0	72.0	74.0					2																	185802719		2203	4300	6503	SO:0001587	stop_gained	91752					intracellular	zinc ion binding	g.chr2:185802719G>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2596G>T	2.37:g.185802719G>T	ENSP00000303252:p.Glu866*						p.E866*	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	3190	+			866					A7E253|Q6ZN26	Nonsense_Mutation	SNP	ENST00000302277.6	37	c.2596G>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	38	6.898176	0.97920	.	.	ENSG00000170396	ENST00000302277	.	.	.	5.57	1.38	0.22167	.	0.747375	0.12204	N	0.489938	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-2.59	6.5615	0.22489	0.2181:0.2385:0.5434:0.0	.	.	.	.	X	866	.	ENSP00000303252:E866X	E	+	1	0	ZNF804A	185510964	0.001000	0.12720	0.000000	0.03702	0.057000	0.15508	0.669000	0.25142	0.263000	0.21812	0.591000	0.81541	GAA		0.353	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		22	64	1	0	2.89027e-11	0.014323	3.88761e-11	22	64				
FAM117B	150864	broad.mit.edu	37	2	203630353	203630353	+	Silent	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr2:203630353C>T	ENST00000392238.2	+	8	1636	c.1636C>T	c.(1636-1638)Ctg>Ttg	p.L546L	FAM117B_ENST00000303116.6_Silent_p.L302L			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	546								p.L302L(1)|p.L546L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GACAACCACTCTGCTGCAGCC	0.557																																							uc010zhx.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1636-1638)CTG>TTG		amyotrophic lateral sclerosis 2 (juvenile)							135.0	123.0	127.0					2																	203630353		2203	4300	6503	SO:0001819	synonymous_variant	150864							g.chr2:203630353C>T	AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"""	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.1636C>T	2.37:g.203630353C>T							p.L546L	NM_173511	NP_775782	Q6P1L5	F117B_HUMAN			8	1646	+			546					Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Silent	SNP	ENST00000392238.2	37	c.1636C>T	CCDS33362.2																																																																																				0.557	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		19	73	0	0	0	0.008871	0	19	73				
TNP1	7141	broad.mit.edu	37	2	217724644	217724644	+	Silent	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr2:217724644C>T	ENST00000236979.2	-	1	143	c.114G>A	c.(112-114)ctG>ctA	p.L38L	AC007563.5_ENST00000607591.1_RNA|AC007563.5_ENST00000447289.1_RNA	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN	transition protein 1 (during histone to protamine replacement)	38					chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|fertilization, exchange of chromosomal proteins (GO:0035042)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|sexual reproduction (GO:0019953)|single strand break repair (GO:0000012)|sperm motility (GO:0030317)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|spermatid nucleus elongation (GO:0007290)	male germ cell nucleus (GO:0001673)|nucleosome (GO:0000786)	DNA binding (GO:0003677)	p.L38L(1)		large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTACTTTTCAGGTTGCCCT	0.532																																							uc002vgk.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(112-114)CTG>CTA		transition protein 1 (during histone to							218.0	196.0	204.0					2																	217724644		2203	4300	6503	SO:0001819	synonymous_variant	7141				chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation	nucleosome	DNA binding	g.chr2:217724644C>T		CCDS2406.1	2q35-q36	2008-06-03			ENSG00000118245	ENSG00000118245			11951	protein-coding gene	gene with protein product		190231				2249851	Standard	NM_003284		Approved		uc002vgk.3	P09430	OTTHUMG00000133057	ENST00000236979.2:c.114G>A	2.37:g.217724644C>T							p.L38L	NM_003284	NP_003275	P09430	STP1_HUMAN		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	1	139	-		Renal(207;0.0822)	38						Silent	SNP	ENST00000236979.2	37	c.114G>A	CCDS2406.1																																																																																				0.532	TNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256673.1	NM_003284		25	125	0	0	0	0.005443	0	25	125				
TNS1	7145	broad.mit.edu	37	2	218669198	218669198	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr2:218669198G>A	ENST00000171887.4	-	33	5644	c.5192C>T	c.(5191-5193)gCc>gTc	p.A1731V	TNS1_ENST00000430930.1_Missense_Mutation_p.A1710V|TNS1_ENST00000419504.1_Missense_Mutation_p.A1717V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1731					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.A1731V(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTTTTGGCCGGCATTCAGCAT	0.612																																							uc002vgt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(5191-5193)GCC>GTC		tensin							111.0	105.0	107.0					2																	218669198		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218669198G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.5192C>T	2.37:g.218669198G>A	ENSP00000171887:p.Ala1731Val					TNS1_uc002vgr.2_Missense_Mutation_p.A1717V|TNS1_uc002vgs.2_Missense_Mutation_p.A1710V|TNS1_uc002vgq.2_Missense_Mutation_p.A231V	p.A1731V	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	33	5590	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1731					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.5192C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	g	14.05	2.420453	0.42918	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	4.72	4.72	0.59763	Phosphotyrosine interaction domain (1);Tensin phosphotyrosine-binding domain (1);	0.614408	0.16923	N	0.193990	T	0.29556	0.0737	L	0.43923	1.385	0.80722	D	1	P;P;B	0.40000	0.698;0.521;0.132	B;B;B	0.37550	0.253;0.197;0.158	T	0.13150	-1.0520	10	0.52906	T	0.07	.	16.0626	0.80847	0.0:0.0:1.0:0.0	.	1731;1710;1717	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	V	1731;869;1717;1710	ENSP00000171887:A1731V;ENSP00000394171:A869V;ENSP00000408724:A1717V;ENSP00000406016:A1710V	ENSP00000171887:A1731V	A	-	2	0	TNS1	218377443	.	.	0.431000	0.26735	0.277000	0.26821	.	.	2.450000	0.82876	0.394000	0.25966	GCC		0.612	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		4	124	0	0	0	0.000602	0	4	124				
CCDC108	255101	broad.mit.edu	37	2	219873855	219873855	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr2:219873855T>A	ENST00000341552.5	-	29	4671	c.4588A>T	c.(4588-4590)Agg>Tgg	p.R1530W	CCDC108_ENST00000453220.1_Missense_Mutation_p.R1530W|CCDC108_ENST00000441968.1_Missense_Mutation_p.R1530W|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1530						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.R1530W(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGATACTGCCTCATGAGCTGC	0.582																																							uc002vjl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(4588-4590)AGG>TGG		coiled-coil domain containing 108 isoform 1							82.0	63.0	69.0					2																	219873855		2202	4293	6495	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219873855T>A	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4588A>T	2.37:g.219873855T>A	ENSP00000340776:p.Arg1530Trp						p.R1530W	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	29	4672	-		Renal(207;0.0915)	1530			Potential.		A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.4588A>T	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	T	17.96	3.515500	0.64634	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.05786	3.39;3.39;3.39	5.31	-3.57	0.04612	.	1.510860	0.04396	N	0.363346	T	0.09818	0.0241	L	0.36672	1.1	0.09310	N	1	P	0.49559	0.925	P	0.55011	0.766	T	0.25916	-1.0118	10	0.66056	D	0.02	-1.5607	3.037	0.06126	0.1214:0.217:0.4678:0.1938	.	1530	Q6ZU64	CC108_HUMAN	W	1530	ENSP00000340776:R1530W;ENSP00000413377:R1530W;ENSP00000409117:R1530W	ENSP00000340776:R1530W	R	-	1	2	CCDC108	219582099	0.005000	0.15991	0.000000	0.03702	0.001000	0.01503	0.311000	0.19380	-0.529000	0.06358	-1.109000	0.02080	AGG		0.582	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		11	32	0	0	0	0.001855	0	11	32				
TSHZ2	128553	broad.mit.edu	37	20	51871865	51871865	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr20:51871865C>A	ENST00000371497.5	+	2	2755	c.1868C>A	c.(1867-1869)gCc>gAc	p.A623D	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A620D|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A620D	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	623					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A623D(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CACGAAGAGGCCTCATCTTTC	0.522																																							uc002xwo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(1867-1869)GCC>GAC		teashirt zinc finger homeobox 2							76.0	80.0	78.0					20																	51871865		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871865C>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1868C>A	20.37:g.51871865C>A	ENSP00000360552:p.Ala623Asp						p.A623D	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	2824	+			623					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.1868C>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	2.993	-0.207789	0.06180	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.38077	1.16;1.16	5.02	4.01	0.46588	.	0.255042	0.39475	N	0.001342	T	0.32526	0.0832	L	0.53249	1.67	0.37506	D	0.916953	B	0.24823	0.112	B	0.19666	0.026	T	0.23154	-1.0196	10	0.18710	T	0.47	-14.8288	14.8313	0.70151	0.0:0.8554:0.1446:0.0	.	623	Q9NRE2	TSH2_HUMAN	D	623;620;149	ENSP00000360552:A623D;ENSP00000333114:A620D	ENSP00000333114:A620D	A	+	2	0	TSHZ2	51305272	0.957000	0.32711	0.931000	0.37212	0.406000	0.30931	2.143000	0.42187	2.336000	0.79503	0.643000	0.83706	GCC		0.522	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		24	110	1	0	4.4004e-07	0.00333	5.31947e-07	24	110				
CTSZ	1522	broad.mit.edu	37	20	57576645	57576645	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr20:57576645T>A	ENST00000217131.5	-	3	480	c.362A>T	c.(361-363)cAg>cTg	p.Q121L		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	121					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)	p.Q121L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			GATGACGTTCTGCACGGACAG	0.612																																							uc002yai.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(361-363)CAG>CTG		cathepsin Z preproprotein							194.0	142.0	160.0					20																	57576645		2203	4300	6503	SO:0001583	missense	1522				proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity	g.chr20:57576645T>A	AF032906	CCDS13474.1	20q13.32	2012-02-10			ENSG00000101160	ENSG00000101160		"""Cathepsins"""	2547	protein-coding gene	gene with protein product	"""cathepsin X"", ""carboxypeptidase LB"", ""cathepsin IV"", ""cathepsin B2"", ""cathepsin Y"", ""cathepsin Z1"", ""cysteine-type carboxypeptidase"", ""lysosomal carboxypeptidase B"""	603169				9642240	Standard	NM_001336		Approved	CTSX	uc002yai.2	Q9UBR2	OTTHUMG00000032858	ENST00000217131.5:c.362A>T	20.37:g.57576645T>A	ENSP00000217131:p.Gln121Leu					CTSZ_uc002yaj.3_Missense_Mutation_p.Q121L	p.Q121L	NM_001336	NP_001327	Q9UBR2	CATZ_HUMAN	Colorectal(105;0.109)		3	488	-	all_lung(29;0.00711)		121					B2RC40|O75331|Q9UQV5|Q9UQV6	Missense_Mutation	SNP	ENST00000217131.5	37	c.362A>T	CCDS13474.1	.	.	.	.	.	.	.	.	.	.	T	18.97	3.736767	0.69304	.	.	ENSG00000101160	ENST00000217131	T	0.54479	0.57	5.26	5.26	0.73747	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.83631	0.5296	H	0.98936	4.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90480	0.4459	10	0.87932	D	0	.	15.2222	0.73320	0.0:0.0:0.0:1.0	.	121;121	Q5U000;Q9UBR2	.;CATZ_HUMAN	L	121	ENSP00000217131:Q121L	ENSP00000217131:Q121L	Q	-	2	0	CTSZ	57010040	1.000000	0.71417	0.882000	0.34594	0.153000	0.21895	7.975000	0.88055	1.995000	0.58328	0.454000	0.30748	CAG		0.612	CTSZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079899.1	NM_001336		20	47	0	0	0	0.008871	0	20	47				
CHRNA4	1137	broad.mit.edu	37	20	61982143	61982144	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr20:61982143_61982144CC>TT	ENST00000370263.4	-	5	840_841	c.619_620GG>AA	c.(619-621)GGc>AAc	p.G207N	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	207					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)	p.G207N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GACCCACTCGCCACTCTCCCAG	0.584																																							uc002yes.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(619-621)GGC>AAC		cholinergic receptor, nicotinic, alpha 4 subunit	Nicotine(DB00184)|Varenicline(DB01273)																																			SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61982143_61982144CC>TT		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.619_620delinsTT	20.37:g.61982143_61982144delinsTT	ENSP00000359285:p.Gly207Asn					CHRNA4_uc002yet.1_Missense_Mutation_p.G31N|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.G136N|CHRNA4_uc002yev.1_Missense_Mutation_p.G31N|CHRNA4_uc010gkf.1_Missense_Mutation_p.G31N	p.G207N	NM_000744	NP_000735	P43681	ACHA4_HUMAN			5	797_798	-	all_cancers(38;1.71e-10)		207			Extracellular (Potential).		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	DNP	ENST00000370263.4	37	c.619_620GG>AA	CCDS13517.1																																																																																				0.584	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			13	46	0	0	0	0.004672	0	13	46				
SAMSN1	64092	broad.mit.edu	37	21	15889331	15889331	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr21:15889331C>A	ENST00000400566.1	-	3	242	c.161G>T	c.(160-162)gGa>gTa	p.G54V	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000285670.2_Missense_Mutation_p.G122V	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	54					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)	p.G54E(1)|p.G54V(1)|p.G122V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ACTTTGTTCTCCACTTCCATT	0.318																																							uc002yju.1		NA																	3	Substitution - Missense(3)	p.G54E(1)	lung(2)|ovary(1)	ovary(3)|pancreas(1)	4						c.(160-162)GGA>GTA		SAM domain, SH3 domain and nuclear localization							121.0	103.0	109.0					21																	15889331		1806	4078	5884	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15889331C>A	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.161G>T	21.37:g.15889331C>A	ENSP00000383411:p.Gly54Val					SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.G122V	p.G54V	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	3	243	-			54					B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.161G>T	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	C	7.437	0.639839	0.14386	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.43294	0.95;0.95	4.97	-2.29	0.06805	.	0.660362	0.15682	N	0.249841	T	0.39682	0.1087	L	0.36672	1.1	0.44789	D	0.99779	D;P	0.61080	0.989;0.949	P;P	0.58873	0.847;0.697	T	0.36456	-0.9747	10	0.25106	T	0.35	-9.7997	6.7319	0.23388	0.0:0.3909:0.1203:0.4888	.	122;54	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	V	122;54	ENSP00000285670:G122V;ENSP00000383411:G54V	ENSP00000285670:G122V	G	-	2	0	SAMSN1	14811202	0.936000	0.31750	0.864000	0.33941	0.178000	0.23041	0.339000	0.19875	-0.436000	0.07254	0.655000	0.94253	GGA		0.318	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			6	34	1	0	3.59834e-05	0.001168	4.11546e-05	6	34				
LSS	4047	broad.mit.edu	37	21	47642572	47642573	+	Missense_Mutation	DNP	CT	CT	AA	rs373432079		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr21:47642572_47642573CT>AA	ENST00000397728.3	-	4	477_478	c.399_400AG>TT	c.(397-402)tcAGtg>tcTTtg	p.V134L	LSS_ENST00000464357.1_5'UTR|LSS_ENST00000522411.1_Intron|AP001469.5_ENST00000418029.1_RNA|LSS_ENST00000356396.4_Missense_Mutation_p.V134L|LSS_ENST00000457828.2_Missense_Mutation_p.V54L	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	134					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)	p.V134L(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GGGAGCTGCACTGACCGCAGGT	0.584																																					Pancreas(114;955 2313 34923 50507)	Pancreas(114;955 2313 34923 50507)	uc002zij.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(397-402)TCAGTG>TCTTTG		lanosterol synthase isoform 1																																				SO:0001583	missense	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47642572_47642573CT>AA	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.399_400delinsAA	21.37:g.47642572_47642573delinsAA	ENSP00000380837:p.Val134Leu					LSS_uc011afv.1_Intron|LSS_uc002zil.2_Missense_Mutation_p.V134L|LSS_uc002zik.2_Missense_Mutation_p.V54L	p.V134L	NM_001001438	NP_001001438	P48449	ERG7_HUMAN			4	478_479	-	Breast(49;0.214)		134			PFTB 1.		B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	DNP	ENST00000397728.3	37	c.399_400AG>TT	CCDS13733.1																																																																																				0.584	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			4	38	0	0	0	0.004672	0	4	38				
PNPLA3	80339	broad.mit.edu	37	22	44328953	44328953	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr22:44328953C>T	ENST00000216180.3	+	4	855	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	PNPLA3_ENST00000423180.2_Missense_Mutation_p.P224S|PNPLA3_ENST00000478713.1_3'UTR	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	228					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)	p.P228S(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				AGCTTTTGTCCCCCCGGATCT	0.547																																							uc003bei.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(682-684)CCC>TCC		patatin-like phospholipase domain containing 3							117.0	107.0	110.0					22																	44328953		2203	4300	6503	SO:0001583	missense	80339				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity	g.chr22:44328953C>T		CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.682C>T	22.37:g.44328953C>T	ENSP00000216180:p.Pro228Ser					PNPLA3_uc010gzm.1_RNA	p.P228S	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN			4	855	+		Ovarian(80;0.024)|all_neural(38;0.0416)	228			Lumenal (Potential).		B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Missense_Mutation	SNP	ENST00000216180.3	37	c.682C>T	CCDS14054.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842292	0.71488	.	.	ENSG00000100344	ENST00000216180;ENST00000423180	T;T	0.77877	-1.13;-1.13	5.57	3.47	0.39725	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.249386	0.32015	N	0.006712	D	0.85301	0.5665	M	0.74467	2.265	0.58432	D	0.999999	D	0.89917	1.0	D	0.72075	0.976	D	0.84670	0.0711	10	0.66056	D	0.02	-17.9293	9.3664	0.38228	0.1446:0.7801:0.0:0.0753	.	228	Q9NST1	PLPL3_HUMAN	S	228;224	ENSP00000216180:P228S;ENSP00000397987:P224S	ENSP00000216180:P228S	P	+	1	0	PNPLA3	42660286	0.995000	0.38212	0.004000	0.12327	0.015000	0.08874	3.988000	0.56951	0.703000	0.31848	0.655000	0.94253	CCC		0.547	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225		38	86	0	0	0	0.009718	0	38	86				
NUP50	10762	broad.mit.edu	37	22	45574368	45574368	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr22:45574368T>C	ENST00000347635.4	+	5	1056	c.590T>C	c.(589-591)aTt>aCt	p.I197T	CTA-268H5.12_ENST00000610217.1_RNA|NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000407019.2_Missense_Mutation_p.I169T|NUP50_ENST00000396096.2_Missense_Mutation_p.I169T	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	197	5 X 2 AA repeats of F-G.|Binding to CDKN1B. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.I197T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TTAGCAAACATTGAACAGCAA	0.423																																							uc003bfr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(589-591)ATT>ACT		nucleoporin 50kDa isoform b							59.0	58.0	59.0					22																	45574368		2202	4300	6502	SO:0001583	missense	10762				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding	g.chr22:45574368T>C	AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"""nucleoporin 50kD"""	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.590T>C	22.37:g.45574368T>C	ENSP00000345895:p.Ile197Thr					NUP50_uc003bfs.2_Missense_Mutation_p.I169T|NUP50_uc011aqn.1_5'UTR|NUP50_uc003bft.2_Missense_Mutation_p.I169T|NUP50_uc011aqo.1_5'UTR	p.I197T	NM_007172	NP_009103	Q9UKX7	NUP50_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	5	1052	+		Ovarian(80;0.00965)|all_neural(38;0.0244)	197			5 X 2 AA repeats of F-G.|Binding to CDKN1B (By similarity).		B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	ENST00000347635.4	37	c.590T>C	CCDS14062.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.457210	0.84317	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000396096	.	.	.	5.46	5.46	0.80206	Nuclear pore complex, NUP2/50/61 (1);	0.000000	0.85682	D	0.000000	T	0.77384	0.4122	M	0.82323	2.585	0.80722	D	1	D	0.61697	0.99	P	0.61275	0.886	T	0.76168	-0.3058	9	0.22109	T	0.4	-25.4376	15.8384	0.78818	0.0:0.0:0.0:1.0	.	197	Q9UKX7	NUP50_HUMAN	T	197;169;169	.	ENSP00000345895:I197T	I	+	2	0	NUP50	43953032	1.000000	0.71417	0.024000	0.17045	0.022000	0.10575	7.710000	0.84655	2.191000	0.70037	0.533000	0.62120	ATT		0.423	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2			4	108	0	0	0	0.009096	0	4	108				
ALG12	79087	broad.mit.edu	37	22	50302947	50302947	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr22:50302947G>A	ENST00000330817.6	-	6	986	c.713C>T	c.(712-714)cCg>cTg	p.P238L		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	238					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)	p.P238L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CTTTCCTTCCGGCCAAGTGAG	0.502																																							uc003biy.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(712-714)CCG>CTG		alpha-1,6-mannosyltransferase ALG12							102.0	92.0	95.0					22																	50302947		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50302947G>A	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.713C>T	22.37:g.50302947G>A	ENSP00000333813:p.Pro238Leu						p.P238L	NM_024105	NP_077010	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	6	987	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	238					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.713C>T	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736652	0.89482	.	.	ENSG00000182858	ENST00000330817	T	0.65549	-0.16	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.85750	0.5769	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.90134	0.4208	10	0.87932	D	0	-12.1807	18.8837	0.92367	0.0:0.0:1.0:0.0	.	238	Q9BV10	ALG12_HUMAN	L	238	ENSP00000333813:P238L	ENSP00000333813:P238L	P	-	2	0	ALG12	48688951	1.000000	0.71417	0.957000	0.39632	0.712000	0.41017	9.241000	0.95402	2.545000	0.85829	0.650000	0.86243	CCG		0.502	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		4	87	0	0	0	0.009096	0	4	87				
CHKB	1120	broad.mit.edu	37	22	51020255	51020255	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr22:51020255C>A	ENST00000406938.2	-	3	587	c.370G>T	c.(370-372)Gcc>Tcc	p.A124S	CHKB-CPT1B_ENST00000452668.1_5'Flank|CHKB-AS1_ENST00000380711.3_RNA|CHKB_ENST00000463053.1_5'UTR|CPT1B_ENST00000434492.2_5'Flank|CHKB-CPT1B_ENST00000453634.1_5'Flank	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	124					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)	p.A124S(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	GCAAGTATGGCGAACATCACG	0.612																																							uc003bms.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(370-372)GCC>TCC		choline kinase beta	Choline(DB00122)						81.0	81.0	81.0					22																	51020255		2203	4300	6503	SO:0001583	missense	1120				phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr22:51020255C>A	AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"""choline kinase-like"""	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.370G>T	22.37:g.51020255C>A	ENSP00000384400:p.Ala124Ser					CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_Intron|CHKB-CPT1B_uc003bmu.2_Missense_Mutation_p.A3S|CHKB_uc003bmv.2_Missense_Mutation_p.A124S|LOC100144603_uc003bmw.3_5'Flank	p.A124S	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	3	588	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	124					A0PJM6|Q13388	Missense_Mutation	SNP	ENST00000406938.2	37	c.370G>T	CCDS14099.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.841957	0.91197	.	.	ENSG00000100288	ENST00000406938	T	0.56611	0.45	4.97	4.97	0.65823	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.000000	0.85682	D	0.000000	T	0.64843	0.2635	L	0.52266	1.64	0.80722	D	1	P	0.44309	0.832	D	0.64776	0.929	T	0.57636	-0.7777	10	0.17369	T	0.5	-8.7771	15.727	0.77770	0.0:1.0:0.0:0.0	.	124	Q9Y259	CHKB_HUMAN	S	124	ENSP00000384400:A124S	ENSP00000384400:A124S	A	-	1	0	CHKB	49367121	1.000000	0.71417	0.998000	0.56505	0.768000	0.43524	7.528000	0.81941	2.293000	0.77203	0.555000	0.69702	GCC		0.612	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317267.3	NM_005198		20	65	1	0	5.26018e-13	0.012319	7.28039e-13	20	65				
CHKB	1120	broad.mit.edu	37	22	51021107	51021107	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr22:51021107C>T	ENST00000406938.2	-	1	321	c.104G>A	c.(103-105)cGg>cAg	p.R35Q	CHKB-CPT1B_ENST00000452668.1_5'Flank|CHKB-AS1_ENST00000380711.3_RNA|CHKB_ENST00000463053.1_Intron|CHKB-CPT1B_ENST00000453634.1_5'Flank	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	35					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)	p.R35Q(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	GGCGCGCCGCCGTTTTGGGGT	0.711																																							uc003bms.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(103-105)CGG>CAG		choline kinase beta	Choline(DB00122)						10.0	12.0	11.0					22																	51021107		2075	4130	6205	SO:0001583	missense	1120				phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr22:51021107C>T	AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"""choline kinase-like"""	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.104G>A	22.37:g.51021107C>T	ENSP00000384400:p.Arg35Gln					CHKB-CPT1B_uc003bmt.1_5'UTR|CHKB-CPT1B_uc003bmu.2_5'UTR|CHKB_uc003bmv.2_Missense_Mutation_p.R35Q|LOC100144603_uc003bmw.3_5'Flank	p.R35Q	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	1	322	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	35					A0PJM6|Q13388	Missense_Mutation	SNP	ENST00000406938.2	37	c.104G>A	CCDS14099.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559100	0.45590	.	.	ENSG00000100288	ENST00000406938	T	0.58210	0.35	4.79	3.76	0.43208	Protein kinase-like domain (1);	0.443923	0.22294	N	0.061942	T	0.34658	0.0905	N	0.22421	0.69	0.28418	N	0.91785	B	0.12013	0.005	B	0.04013	0.001	T	0.16424	-1.0403	10	0.13470	T	0.59	-8.976	11.3443	0.49552	0.0:0.816:0.184:0.0	.	35	Q9Y259	CHKB_HUMAN	Q	35	ENSP00000384400:R35Q	ENSP00000384400:R35Q	R	-	2	0	CHKB	49367973	0.031000	0.19500	0.949000	0.38748	0.510000	0.34073	0.031000	0.13710	1.118000	0.41863	0.650000	0.86243	CGG		0.711	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317267.3	NM_005198		5	10	0	0	0	0.000602	0	5	10				
PPARG	5468	broad.mit.edu	37	3	12458450	12458450	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr3:12458450C>A	ENST00000287820.6	+	6	1188	c.1067C>A	c.(1066-1068)aCa>aAa	p.T356K	PPARG_ENST00000397012.2_Missense_Mutation_p.T328K|PPARG_ENST00000397026.2_Missense_Mutation_p.T334K|PPARG_ENST00000397015.2_Missense_Mutation_p.T328K|PPARG_ENST00000309576.6_Missense_Mutation_p.T328K|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397010.2_Missense_Mutation_p.T328K|PPARG_ENST00000397000.1_Intron	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	356	Ligand-binding.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.T356K(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	ATCATTTACACAATGCTGGCC	0.443			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""																																uc003bwx.2		NA		Dom	yes		3	3p25	5468	T	"""peroxisome proliferative activated receptor, gamma"""	yes	Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension	E	PAX8		follicular thyroid		1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(1066-1068)ACA>AAA		peroxisome proliferative activated receptor	Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)						80.0	75.0	77.0					3																	12458450		2203	4300	6503	SO:0001583	missense	5468				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:12458450C>A	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.1067C>A	3.37:g.12458450C>A	ENSP00000287820:p.Thr356Lys					PPARG_uc003bwr.2_Missense_Mutation_p.T328K|PPARG_uc003bws.2_Missense_Mutation_p.T328K|PPARG_uc003bwu.2_Missense_Mutation_p.T328K|PPARG_uc003bwv.2_Intron|PPARG_uc010hea.1_RNA	p.T356K	NM_015869	NP_056953	P37231	PPARG_HUMAN			6	1158	+			356			Ligand-binding.		A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	ENST00000287820.6	37	c.1067C>A	CCDS2609.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753327	0.89753	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000287820	D;D;D;D;D;D	0.96745	-4.11;-4.11;-4.11;-4.11;-4.11;-4.11	6.03	6.03	0.97812	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.095216	0.64402	D	0.000001	D	0.97099	0.9052	M	0.64997	1.995	0.80722	D	1	D	0.63046	0.992	P	0.54431	0.752	D	0.96753	0.9555	10	0.56958	D	0.05	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	356	P37231	PPARG_HUMAN	K	328;328;328;328;334;356	ENSP00000380205:T328K;ENSP00000312472:T328K;ENSP00000380210:T328K;ENSP00000380207:T328K;ENSP00000380221:T334K;ENSP00000287820:T356K	ENSP00000287820:T356K	T	+	2	0	PPARG	12433450	0.995000	0.38212	0.978000	0.43139	0.970000	0.65996	3.121000	0.50438	2.854000	0.98071	0.655000	0.94253	ACA		0.443	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037		9	45	1	0	0.00621372	0.006214	0.00659344	9	45				
CTNNB1	1499	broad.mit.edu	37	3	41280817	41280817	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr3:41280817T>C	ENST00000349496.5	+	15	2610	c.2330T>C	c.(2329-2331)tTt>tCt	p.F777S	CTNNB1_ENST00000405570.1_Missense_Mutation_p.F777S|CTNNB1_ENST00000396183.3_Missense_Mutation_p.F777S|CTNNB1_ENST00000453024.1_Missense_Mutation_p.F770S|CTNNB1_ENST00000396185.3_Missense_Mutation_p.F777S|CTNNB1_ENST00000471014.1_3'UTR	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	777	Interaction with SCRIB. {ECO:0000250}.				adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.F777S(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CTGGCCTGGTTTGATACTGAC	0.478		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	Colon(6;3 56 14213 18255)	uc010hia.1		15		Dom	yes		3	3p22-p21.3	1499	H|Mis|T	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma	CTNNB1/PLAG1(60)	1	Substitution - Missense(1)		lung(1)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166						c.(2329-2331)TTT>TCT		beta-catenin	Lithium(DB01356)						37.0	36.0	36.0					3																	41280817		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma_Familial_Clustering_of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41280817T>C	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.2330T>C	3.37:g.41280817T>C	ENSP00000344456:p.Phe777Ser					CTNNB1_uc003ckp.2_Missense_Mutation_p.F777S|CTNNB1_uc003ckq.2_Missense_Mutation_p.F777S|CTNNB1_uc003ckr.2_Missense_Mutation_p.F777S|CTNNB1_uc011azf.1_Missense_Mutation_p.F770S|CTNNB1_uc011azg.1_Missense_Mutation_p.F705S	p.F777S	NM_001904	NP_001895	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	16	2486	+			777			Interaction with SCRIB (By similarity).		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.2330T>C	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.926752	0.52759	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.55321	0.1913	L	0.49126	1.545	0.80722	D	1	B;B	0.25521	0.017;0.128	B;B	0.25987	0.01;0.065	T	0.56378	-0.7989	10	0.87932	D	0	-3.236	15.934	0.79688	0.0:0.0:0.0:1.0	.	705;777	B4DSW9;P35222	.;CTNB1_HUMAN	S	777;777;777;770;777	ENSP00000385604:F777S;ENSP00000379486:F777S;ENSP00000344456:F777S;ENSP00000411226:F770S;ENSP00000379488:F777S	ENSP00000344456:F777S	F	+	2	0	CTNNB1	41255821	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.164000	0.68074	0.455000	0.32223	TTT		0.478	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		8	31	0	0	0	0.00308	0	8	31				
ARGFX	503582	broad.mit.edu	37	3	121305205	121305205	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr3:121305205C>A	ENST00000334384.3	+	4	716	c.706C>A	c.(706-708)Ctt>Att	p.L236I		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.L236I(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		ACTGTACAATCTTCCTGATGA	0.463																																							uc003eef.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(706-708)CTT>ATT		arginine-fifty homeobox							119.0	118.0	119.0					3																	121305205		2203	4300	6503	SO:0001583	missense	503582					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121305205C>A		CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"""Homeoboxes / PRD class"""	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.706C>A	3.37:g.121305205C>A	ENSP00000335578:p.Leu236Ile						p.L236I	NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN		GBM - Glioblastoma multiforme(114;0.152)	5	801	+			236						Missense_Mutation	SNP	ENST00000334384.3	37	c.706C>A	CCDS33834.1	.	.	.	.	.	.	.	.	.	.	C	6.197	0.404441	0.11754	.	.	ENSG00000186103	ENST00000334384	D	0.89050	-2.46	3.56	1.15	0.20763	.	0.556047	0.15176	N	0.276398	T	0.73225	0.3560	N	0.14661	0.345	0.09310	N	0.999993	B	0.26809	0.16	B	0.20577	0.03	T	0.58578	-0.7612	10	0.22706	T	0.39	-1.519	3.3642	0.07198	0.0:0.1328:0.2393:0.6279	.	236	A6NJG6	ARGFX_HUMAN	I	236	ENSP00000335578:L236I	ENSP00000335578:L236I	L	+	1	0	ARGFX	122787895	0.852000	0.29690	0.642000	0.29436	0.014000	0.08584	0.439000	0.21575	0.242000	0.21303	-0.367000	0.07326	CTT		0.463	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355096.2	NM_001012659		28	102	1	0	4.7796e-09	0.004656	5.92795e-09	28	102				
TRPC1	7220	broad.mit.edu	37	3	142496497	142496497	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr3:142496497G>A	ENST00000476941.1	+	5	1142	c.656G>A	c.(655-657)tGt>tAt	p.C219Y	TRPC1_ENST00000273482.6_Missense_Mutation_p.C185Y	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	219					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.C185Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ATATATCGATGTTTGGCCAGT	0.313																																							uc003evc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(655-657)TGT>TAT		transient receptor potential cation channel,							88.0	85.0	86.0					3																	142496497		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142496497G>A	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.656G>A	3.37:g.142496497G>A	ENSP00000419313:p.Cys219Tyr					TRPC1_uc003evb.2_Missense_Mutation_p.C185Y	p.C219Y	NM_003304	NP_003295	P48995	TRPC1_HUMAN			5	792	+			219			Cytoplasmic (Potential).		Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.656G>A	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008457	0.93346	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.76839	-1.05;-1.05	5.48	5.48	0.80851	Transient receptor potential II (1);	0.000000	0.85682	D	0.000000	T	0.77532	0.4144	N	0.08118	0	0.80722	D	1	D;D	0.65815	0.995;0.994	D;P	0.63597	0.916;0.879	T	0.83198	-0.0080	10	0.87932	D	0	-0.7946	19.3356	0.94316	0.0:0.0:1.0:0.0	.	219;185	P48995;P48995-2	TRPC1_HUMAN;.	Y	219;185	ENSP00000419313:C219Y;ENSP00000273482:C185Y	ENSP00000273482:C185Y	C	+	2	0	TRPC1	143979187	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	9.323000	0.96364	2.555000	0.86185	0.563000	0.77884	TGT		0.313	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		16	48	0	0	0	0.006122	0	16	48				
NRROS	375387	broad.mit.edu	37	3	196386667	196386667	+	Silent	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr3:196386667G>T	ENST00000328557.4	+	3	356	c.153G>T	c.(151-153)gtG>gtT	p.V51V		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	51					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V51V(1)									TCGCTTCGGTGCCCAGCAGCC	0.652																																							uc003fwv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(151-153)GTG>GTT		leucine rich repeat containing 33 precursor							50.0	44.0	46.0					3																	196386667		2203	4299	6502	SO:0001819	synonymous_variant	375387					integral to membrane		g.chr3:196386667G>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.153G>T	3.37:g.196386667G>T							p.V51V	NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	3	257	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		51			Extracellular (Potential).			Silent	SNP	ENST00000328557.4	37	c.153G>T	CCDS3319.1																																																																																				0.652	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		7	24	1	0	2.0095e-06	0.001984	2.38394e-06	7	24				
PDGFRA	5156	broad.mit.edu	37	4	55156542	55156542	+	Silent	SNP	T	T	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr4:55156542T>A	ENST00000257290.5	+	22	3274	c.2943T>A	c.(2941-2943)cgT>cgA	p.R981R	FIP1L1_ENST00000507166.1_Silent_p.R741R	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	981					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R981R(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CACGCATGCGTGTGGACTCAG	0.448			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NA		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		1	Substitution - coding silent(1)		lung(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(2941-2943)CGT>CGA		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						153.0	133.0	139.0					4																	55156542		2203	4300	6503	SO:0001819	synonymous_variant	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55156542T>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2943T>A	4.37:g.55156542T>A		TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Silent_p.R741R	p.R981R	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		22	3274	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		981			Cytoplasmic (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Silent	SNP	ENST00000257290.5	37	c.2943T>A	CCDS3495.1																																																																																				0.448	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		24	76	0	0	0	0.00333	0	24	76				
KDR	3791	broad.mit.edu	37	4	55968660	55968660	+	Missense_Mutation	SNP	G	G	T	rs199774865	byFrequency	TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr4:55968660G>T	ENST00000263923.4	-	14	2298	c.2003C>A	c.(2002-2004)aCg>aAg	p.T668K		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	668	Ig-like C2-type 7.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.T668M(1)|p.T668K(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCTGTGATCGTGGGTGCCAC	0.428			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																													uc003has.2		NA		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		2	Substitution - Missense(2)		lung(2)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(2002-2004)ACG>AAG		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						148.0	122.0	131.0					4																	55968660		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55968660G>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2003C>A	4.37:g.55968660G>T	ENSP00000263923:p.Thr668Lys	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.T668K	p.T668K	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		14	2305	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		668			Ig-like C2-type 7.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.2003C>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	g	5.045	0.193927	0.09599	.	.	ENSG00000128052	ENST00000263923	T	0.64991	-0.13	6.02	-2.17	0.07059	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.606205	0.18161	N	0.149788	T	0.34193	0.0889	N	0.11560	0.145	0.09310	N	1	B	0.20780	0.048	B	0.28232	0.087	T	0.14337	-1.0476	10	0.30078	T	0.28	.	3.6376	0.08155	0.3064:0.1307:0.4365:0.1264	.	668	P35968	VGFR2_HUMAN	K	668	ENSP00000263923:T668K	ENSP00000263923:T668K	T	-	2	0	KDR	55663417	0.006000	0.16342	0.090000	0.20809	0.050000	0.14768	0.074000	0.14662	-0.321000	0.08627	-1.137000	0.01932	ACG		0.428	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			16	56	1	0	1.56452e-12	0.007413	2.14981e-12	16	56				
SHROOM3	57619	broad.mit.edu	37	4	77675651	77675651	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr4:77675651A>T	ENST00000296043.6	+	7	4968	c.4015A>T	c.(4015-4017)Acg>Tcg	p.T1339S	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1339					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.T1338S(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACTGGCAGGAACGCAAGGGCT	0.607																																							uc011cbx.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(4015-4017)ACG>TCG		shroom family member 3 protein							85.0	82.0	83.0					4																	77675651		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77675651A>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.4015A>T	4.37:g.77675651A>T	ENSP00000296043:p.Thr1339Ser					SHROOM3_uc003hkg.2_Missense_Mutation_p.T1117S	p.T1339S	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		7	4968	+			1339					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.4015A>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	A	5.391	0.257347	0.10239	.	.	ENSG00000138771	ENST00000296043	T	0.19532	2.14	5.16	-7.86	0.01187	.	2.346040	0.01250	N	0.008841	T	0.09730	0.0239	N	0.08118	0	0.09310	N	1	B	0.19706	0.038	B	0.14578	0.011	T	0.25950	-1.0117	10	0.09338	T	0.73	-0.0852	12.7264	0.57173	0.2736:0.1108:0.6155:0.0	.	1339	Q8TF72	SHRM3_HUMAN	S	1339	ENSP00000296043:T1339S	ENSP00000296043:T1339S	T	+	1	0	SHROOM3	77894675	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.089000	0.15002	-1.712000	0.01393	-0.924000	0.02725	ACG		0.607	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		17	79	0	0	0	0.006122	0	17	79				
QRFPR	84109	broad.mit.edu	37	4	122261661	122261661	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr4:122261661G>T	ENST00000394427.2	-	2	856	c.445C>A	c.(445-447)Cat>Aat	p.H149N	QRFPR_ENST00000334383.5_Missense_Mutation_p.H149N	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	149			H -> Q (in dbSNP:rs11947418).		G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.H149N(1)		endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TTAAAAGGATGCACAAGTCCC	0.468																																							uc010inj.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(445-447)CAT>AAT		G protein-coupled receptor 103							140.0	119.0	126.0					4																	122261661		2203	4300	6503	SO:0001583	missense	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122261661G>T	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.445C>A	4.37:g.122261661G>T	ENSP00000377948:p.His149Asn					QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Missense_Mutation_p.H149N|QRFPR_uc010inl.1_Missense_Mutation_p.H149N	p.H149N	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN			2	824	-			149			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000394427.2	37	c.445C>A	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142707	0.77888	.	.	ENSG00000186867	ENST00000394427;ENST00000334383	T;T	0.38722	1.12;1.12	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.095065	0.64402	D	0.000001	T	0.59004	0.2162	L	0.54323	1.7	0.48288	D	0.999626	D;P;P	0.65815	0.995;0.603;0.81	D;B;P	0.63957	0.92;0.417;0.635	T	0.54384	-0.8302	10	0.34782	T	0.22	.	18.9987	0.92824	0.0:0.0:1.0:0.0	.	149;149;149	F2Z3L3;Q96P65;G4XH69	.;QRFPR_HUMAN;.	N	149	ENSP00000377948:H149N;ENSP00000335610:H149N	ENSP00000335610:H149N	H	-	1	0	QRFPR	122481111	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	4.133000	0.57983	2.464000	0.83262	0.579000	0.79373	CAT		0.468	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		11	38	1	0	4.36969e-10	0.001855	5.71651e-10	11	38				
BBS7	55212	broad.mit.edu	37	4	122774156	122774156	+	Silent	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr4:122774156C>T	ENST00000264499.4	-	8	987	c.804G>A	c.(802-804)gtG>gtA	p.V268V	BBS7_ENST00000506636.1_Silent_p.V268V	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	268					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.V268V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CAAAACTATACACTTCCACCA	0.318									Bardet-Biedl syndrome																														uc003ied.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(802-804)GTG>GTA		Bardet-Biedl syndrome 7 protein isoform a							137.0	118.0	124.0					4																	122774156		2203	4300	6503	SO:0001819	synonymous_variant	55212	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122774156C>T	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.804G>A	4.37:g.122774156C>T						BBS7_uc003iee.1_Silent_p.V268V	p.V268V	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN			8	978	-			268					Q4W5P8|Q8N581|Q9NVI4	Silent	SNP	ENST00000264499.4	37	c.804G>A	CCDS3724.1																																																																																				0.318	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			9	20	0	0	0	0.004482	0	9	20				
CYP4V2	285440	broad.mit.edu	37	4	187130126	187130126	+	Missense_Mutation	SNP	C	C	T	rs138444697		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr4:187130126C>T	ENST00000378802.4	+	9	1502	c.1198C>T	c.(1198-1200)Cgt>Tgt	p.R400C	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	400					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.R400C(1)|p.R400S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		TTTATTTGCCCGTAGTGTTAG	0.433																																							uc003iyw.3		NA																	2	Substitution - Missense(2)		lung(2)		0	GRCh37	CM074768	CYP4V2	M	rs138444697	c.(1198-1200)CGT>TGT		cytochrome P450, family 4, subfamily v,		C	CYS/ARG	0,4406		0,0,2203	169.0	161.0	164.0		1198	4.9	1.0	4	dbSNP_134	164	2,8598	2.2+/-6.3	0,2,4298	no	missense	CYP4V2	NM_207352.3	180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	400/526	187130126	2,13004	2203	4300	6503	SO:0001583	missense	285440				response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr4:187130126C>T	AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.1198C>T	4.37:g.187130126C>T	ENSP00000368079:p.Arg400Cys					CYP4V2_uc010ism.2_RNA	p.R400C	NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)	9	1502	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	400					B7U6W2|Q6ZTM4	Missense_Mutation	SNP	ENST00000378802.4	37	c.1198C>T	CCDS34119.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481805	0.63849	0.0	2.33E-4	ENSG00000145476	ENST00000378802;ENST00000274118	D	0.89485	-2.52	5.7	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.96864	0.8976	H	0.98629	4.285	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98554	1.0638	9	0.87932	D	0	.	16.2907	0.82750	0.1332:0.8668:0.0:0.0	.	400	Q6ZWL3	CP4V2_HUMAN	C	400;378	ENSP00000368079:R400C	ENSP00000274118:R378C	R	+	1	0	CYP4V2	187367120	1.000000	0.71417	0.991000	0.47740	0.253000	0.25986	4.782000	0.62396	1.409000	0.46915	0.655000	0.94253	CGT		0.433	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360398.1	XM_209612		13	119	0	0	0	0.00245	0	13	119				
BRD9	65980	broad.mit.edu	37	5	865601	865602	+	Missense_Mutation	DNP	GC	GC	AA	rs573189640		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr5:865601_865602GC>AA	ENST00000467963.1	-	15	1786_1787	c.1620_1621GC>TT	c.(1618-1623)gaGCgc>gaTTgc	p.540_541ER>DC	BRD9_ENST00000323510.4_Missense_Mutation_p.444_445ER>DC|BRD9_ENST00000483173.1_Missense_Mutation_p.487_488ER>DC|BRD9_ENST00000388890.4_Missense_Mutation_p.424_425ER>DC	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	540					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)	p.E444_R445>DC(1)|p.E540_R541>DC(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GAGCCGCCGCGCTCCGCCTGTG	0.644																																							uc003jbq.2		NA																	2	Complex - compound substitution(2)		lung(2)		0						c.(1618-1623)GAGCGC>GATTGC		bromodomain containing 9 isoform 1																																				SO:0001583	missense	65980						nucleic acid binding	g.chr5:865601_865602GC>AA	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1620_1621delinsAA	5.37:g.865601_865602delinsAA	ENSP00000419765:p.E540_R541delinsDC					BRD9_uc003jbl.2_Missense_Mutation_p.424_425ER>DC|BRD9_uc003jbm.2_RNA|BRD9_uc003jbn.2_RNA|BRD9_uc011cmb.1_Missense_Mutation_p.487_488ER>DC|BRD9_uc003jbo.2_Missense_Mutation_p.444_445ER>DC	p.540_541ER>DC	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		15	1787_1788	-			540_541					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	DNP	ENST00000467963.1	37	c.1620_1621GC>TT	CCDS34127.2																																																																																				0.644	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		29	119	0	0	0	0.004672	0	29	119				
PDZD2	23037	broad.mit.edu	37	5	32074612	32074612	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr5:32074612G>A	ENST00000438447.1	+	18	3788	c.3400G>A	c.(3400-3402)Gag>Aag	p.E1134K	PDZD2_ENST00000282493.3_Missense_Mutation_p.E1134K			O15018	PDZD2_HUMAN	PDZ domain containing 2	1134					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.E1134K(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ATCCGAGGCTGAGGCCAAGCC	0.602																																							uc003jhl.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(3400-3402)GAG>AAG		PDZ domain containing 2							44.0	44.0	44.0					5																	32074612		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32074612G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3400G>A	5.37:g.32074612G>A	ENSP00000402033:p.Glu1134Lys					PDZD2_uc003jhm.2_Missense_Mutation_p.E1134K|PDZD2_uc011cnx.1_Missense_Mutation_p.E960K	p.E1134K	NM_178140	NP_835260	O15018	PDZD2_HUMAN			18	3788	+			1134					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.3400G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.826937	0.50739	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07444	3.19;3.19	5.8	3.99	0.46301	.	0.623793	0.14298	N	0.328477	T	0.13200	0.0320	M	0.65975	2.015	0.09310	N	1	B;P	0.48294	0.156;0.908	B;P	0.44422	0.026;0.449	T	0.10064	-1.0646	10	0.46703	T	0.11	.	9.7409	0.40418	0.0:0.2891:0.5614:0.1496	.	960;1134	B4E3P2;O15018	.;PDZD2_HUMAN	K	1134;936;1134	ENSP00000402033:E1134K;ENSP00000282493:E1134K	ENSP00000282493:E1134K	E	+	1	0	PDZD2	32110369	0.001000	0.12720	0.036000	0.18154	0.068000	0.16541	0.378000	0.20569	0.759000	0.33084	0.655000	0.94253	GAG		0.602	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			7	41	0	0	0	0.001984	0	7	41				
ISL1	3670	broad.mit.edu	37	5	50683340	50683340	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr5:50683340T>A	ENST00000230658.7	+	3	820	c.235T>A	c.(235-237)Tgc>Agc	p.C79S	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Missense_Mutation_p.C79S	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	79	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				atrial septum morphogenesis (GO:0060413)|axon regeneration (GO:0031103)|cardiac cell fate determination (GO:0060913)|cardiac muscle cell myoblast differentiation (GO:0060379)|cardiac right ventricle morphogenesis (GO:0003215)|cellular response to glucocorticoid stimulus (GO:0071385)|endocardial cushion morphogenesis (GO:0003203)|innervation (GO:0060384)|mesenchymal cell differentiation (GO:0048762)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of protein homodimerization activity (GO:0090074)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate specification (GO:0048665)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|pancreas development (GO:0031016)|peripheral nervous system neuron axonogenesis (GO:0048936)|pharyngeal system development (GO:0060037)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 alpha production (GO:0032730)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage colony-stimulating factor production (GO:1901258)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|retinal ganglion cell axon guidance (GO:0031290)|secondary heart field specification (GO:0003139)|sensory system development (GO:0048880)|spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron differentiation (GO:0021522)|trigeminal nerve development (GO:0021559)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|zinc ion binding (GO:0008270)	p.C79S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				CGGGATCAAATGCGCCAAGTG	0.627																																							uc003jor.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(235-237)TGC>AGC		islet-1							32.0	34.0	34.0					5																	50683340		2030	4180	6210	SO:0001583	missense	3670				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:50683340T>A	BC031213	CCDS43314.1	5q11.2	2012-03-09	2007-07-13		ENSG00000016082	ENSG00000016082		"""Homeoboxes / LIM class"""	6132	protein-coding gene	gene with protein product		600366	"""ISL1 transcription factor, LIM/homeodomain, (islet-1)"""			7912209	Standard	NM_002202		Approved	Isl-1, ISLET1	uc003jor.3	P61371	OTTHUMG00000162281	ENST00000230658.7:c.235T>A	5.37:g.50683340T>A	ENSP00000230658:p.Cys79Ser						p.C79S	NM_002202	NP_002193	P61371	ISL1_HUMAN			3	783	+		Lung NSC(810;0.000845)|Breast(144;0.0411)	79			LIM zinc-binding 2.		P20663|P47894	Missense_Mutation	SNP	ENST00000230658.7	37	c.235T>A	CCDS43314.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	32|32	5.183370|5.183370	0.94885|0.94885	.|.	.|.	ENSG00000016082|ENSG00000016082	ENST00000230658;ENST00000503187;ENST00000511384|ENST00000505475	D;D|.	0.99311|.	-5.73;-5.73|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Zinc finger, LIM-type (5);|.	0.211836|.	0.49916|.	D|.	0.000136|.	D|D	0.91284|0.91284	0.7252|0.7252	H|H	0.99415|0.99415	4.555|4.555	0.80722|0.80722	D|D	1|1	P|.	0.50272|.	0.933|.	P|.	0.54210|.	0.745|.	D|D	0.94965|0.94965	0.8112|0.8112	10|6	0.87932|0.87932	D|D	0|0	.|.	15.4599|15.4599	0.75346|0.75346	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	79|.	P61371|.	ISL1_HUMAN|.	S|K	79|25	ENSP00000230658:C79S;ENSP00000422676:C79S|.	ENSP00000230658:C79S|ENSP00000421737:M25K	C|M	+|+	1|2	0|0	ISL1|ISL1	50719097|50719097	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.930000|7.930000	0.87610|0.87610	2.131000|2.131000	0.65755|0.65755	0.454000|0.454000	0.30748|0.30748	TGC|ATG		0.627	ISL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368413.3	NM_002202		6	12	0	0	0	0.001168	0	6	12				
GLRX	2745	broad.mit.edu	37	5	95152247	95152247	+	Silent	SNP	C	C	A	rs528811327		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr5:95152247C>A	ENST00000379979.4	-	2	342	c.291G>T	c.(289-291)acG>acT	p.T97T	GLRX_ENST00000507605.1_5'UTR|GLRX_ENST00000508780.1_Silent_p.T97T|GLRX_ENST00000237858.6_Silent_p.T97T|GLRX_ENST00000505427.1_Silent_p.T97T|GLRX_ENST00000512469.2_Silent_p.T97T	NM_002064.2	NP_002055.1	P35754	GLRX1_HUMAN	glutaredoxin (thioltransferase)	97	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of membrane potential (GO:0045838)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein deglutathionylation (GO:0080058)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|glutathione disulfide oxidoreductase activity (GO:0015038)|glutathione oxidoreductase activity (GO:0097573)|protein N-terminus binding (GO:0047485)	p.T97T(1)		endometrium(3)|large_intestine(1)|lung(1)	5		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	GCTTTAGCCGCGTCAGCAGTT	0.512																																							uc003klo.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(289-291)ACG>ACT		glutaredoxin (thioltransferase)	Glutathione(DB00143)						84.0	78.0	80.0					5																	95152247		2203	4300	6503	SO:0001819	synonymous_variant	2745				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein disulfide oxidoreductase activity|protein N-terminus binding	g.chr5:95152247C>A		CCDS4078.1	5q14	2008-02-05			ENSG00000173221	ENSG00000173221			4330	protein-coding gene	gene with protein product		600443				8838810	Standard	NM_002064		Approved	GRX, GRX1	uc021ybo.1	P35754	OTTHUMG00000121167	ENST00000379979.4:c.291G>T	5.37:g.95152247C>A						GLRX_uc003kln.3_Silent_p.T97T	p.T97T	NM_001118890	NP_001112362	P35754	GLRX1_HUMAN		all cancers(79;2.62e-16)	2	502	-		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)	97			Glutaredoxin.		B2R4L2|Q3KQS1|Q6ICT1	Silent	SNP	ENST00000379979.4	37	c.291G>T	CCDS4078.1																																																																																				0.512	GLRX-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370267.1	NM_002064		21	46	1	0	2.89027e-11	0.014323	3.88761e-11	21	46				
PCDHGA6	56109	broad.mit.edu	37	5	140755360	140755360	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr5:140755360C>A	ENST00000517434.1	+	1	1710	c.1710C>A	c.(1708-1710)gaC>gaA	p.D570E	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	570	Cadherin 6. {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.D570E(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCACAGACGGTTCCACTG	0.667																																							uc003ljy.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1708-1710)GAC>GAA		protocadherin gamma subfamily A, 6 isoform 1							103.0	120.0	114.0					5																	140755360		2202	4298	6500	SO:0001583	missense	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140755360C>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1710C>A	5.37:g.140755360C>A	ENSP00000429601:p.Asp570Glu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.D570E	p.D570E	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1710	+			570			Extracellular (Potential).|Cadherin 6.		A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.1710C>A	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	8.026	0.760610	0.15914	.	.	ENSG00000253731	ENST00000517434	T	0.44881	0.91	4.57	-7.96	0.01144	Cadherin-like (1);	0.000000	0.31872	U	0.006938	T	0.48314	0.1493	L	0.55481	1.735	0.09310	N	1	D;D	0.76494	0.999;0.998	D;D	0.75484	0.986;0.934	T	0.55509	-0.8130	10	0.46703	T	0.11	.	11.3769	0.49733	0.0833:0.0854:0.0832:0.7481	.	570;570	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	E	570	ENSP00000429601:D570E	ENSP00000429601:D570E	D	+	3	2	PCDHGA6	140735544	0.000000	0.05858	0.003000	0.11579	0.376000	0.30014	-4.152000	0.00284	-1.942000	0.01040	-0.259000	0.10710	GAC		0.667	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		39	148	1	0	8.69298e-16	0.006999	1.25785e-15	39	148				
SLC36A2	153201	broad.mit.edu	37	5	150722498	150722498	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr5:150722498G>T	ENST00000335244.4	-	4	520	c.391C>A	c.(391-393)Cta>Ata	p.L131I	SLC36A2_ENST00000521967.1_Missense_Mutation_p.L131I	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	131					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)	p.L131I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	TTGGCTTCTAGTCCATGCATC	0.512																																							uc003lty.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(391-393)CTA>ATA		solute carrier family 36, member 2							180.0	144.0	156.0					5																	150722498		2203	4300	6503	SO:0001583	missense	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150722498G>T	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.391C>A	5.37:g.150722498G>T	ENSP00000334223:p.Leu131Ile					GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.L131I|SLC36A2_uc011dct.1_Missense_Mutation_p.L131I	p.L131I	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	521	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	131			Cytoplasmic (Potential).		Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	c.391C>A	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249424	0.59103	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	T;T	0.11495	3.58;2.77	4.87	3.97	0.46021	.	0.117523	0.53938	D	0.000043	T	0.22322	0.0538	M	0.70275	2.135	0.80722	D	1	B;P;P	0.42961	0.41;0.629;0.795	B;B;P	0.50754	0.326;0.377;0.649	T	0.01021	-1.1478	10	0.45353	T	0.12	-5.7789	12.2157	0.54404	0.0:0.0:0.6903:0.3097	.	131;131;131	B4DMY0;E5RJJ5;Q495M3	.;.;S36A2_HUMAN	I	131	ENSP00000334223:L131I;ENSP00000430535:L131I	ENSP00000334223:L131I	L	-	1	2	SLC36A2	150702691	0.957000	0.32711	0.409000	0.26459	0.900000	0.52787	1.241000	0.32743	1.350000	0.45770	0.655000	0.94253	CTA		0.512	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			17	54	1	0	5.3912e-06	0.006122	6.3563e-06	17	54				
GPRIN1	114787	broad.mit.edu	37	5	176023823	176023823	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr5:176023823G>T	ENST00000303991.4	-	2	3190	c.3013C>A	c.(3013-3015)Ccc>Acc	p.P1005T		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	1005	Interaction with GNAO1. {ECO:0000250}.				neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)		p.P1005T(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCGGCCGTGGGTCCCGCCCGC	0.706																																							uc003meo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3013-3015)CCC>ACC		G protein-regulated inducer of neurite outgrowth							13.0	20.0	18.0					5																	176023823		2182	4283	6465	SO:0001583	missense	114787					growth cone|plasma membrane		g.chr5:176023823G>T	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.3013C>A	5.37:g.176023823G>T	ENSP00000305839:p.Pro1005Thr						p.P1005T	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	3188	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	1005			Interaction with GNAO1 (By similarity).		C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	c.3013C>A	CCDS4405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.25|19.25	3.792395|3.792395	0.70452|0.70452	.|.	.|.	ENSG00000169258|ENSG00000169258	ENST00000303991|ENST00000335532	T|.	0.20332|.	2.08|.	3.43|3.43	3.43|3.43	0.39272|0.39272	.|.	.|.	.|.	.|.	.|.	T|T	0.57932|0.57932	0.2087|0.2087	L|L	0.46157|0.46157	1.445|1.445	0.36356|0.36356	D|D	0.860383|0.860383	D|.	0.76494|.	0.999|.	D|.	0.76575|.	0.988|.	T|T	0.60224|0.60224	-0.7305|-0.7305	9|6	0.41790|0.16896	T|T	0.15|0.51	-3.0521|-3.0521	15.0404|15.0404	0.71785|0.71785	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1005|.	Q7Z2K8|.	GRIN1_HUMAN|.	T|N	1005|772	ENSP00000305839:P1005T|.	ENSP00000305839:P1005T|ENSP00000335279:T772N	P|T	-|-	1|2	0|0	GPRIN1|GPRIN1	175956429|175956429	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.907000|0.907000	0.53573|0.53573	5.317000|5.317000	0.65822|0.65822	1.752000|1.752000	0.51891|0.51891	0.462000|0.462000	0.41574|0.41574	CCC|ACC		0.706	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899		4	17	1	0	0.00024832	0.009096	0.000278995	4	17				
SQSTM1	8878	broad.mit.edu	37	5	179260106	179260106	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr5:179260106A>G	ENST00000389805.4	+	6	1007	c.829A>G	c.(829-831)Agc>Ggc	p.S277G	SQSTM1_ENST00000402874.3_Missense_Mutation_p.S193G|SQSTM1_ENST00000376929.3_Missense_Mutation_p.S193G|SQSTM1_ENST00000510187.1_Missense_Mutation_p.S277G|SQSTM1_ENST00000360718.5_Missense_Mutation_p.S193G	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	277	Interaction with NTRK1. {ECO:0000250}.|Ser-rich.				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)	p.S277G(1)	SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGAGTTCCAGCACAGAGGA	0.597																																							uc003mkw.3		NA																SQSTM1/ALK(2)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(829-831)AGC>GGC		sequestosome 1 isoform 1							48.0	51.0	50.0					5																	179260106		2203	4300	6503	SO:0001583	missense	8878	Paget_Disease_of_Bone			anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179260106A>G	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.829A>G	5.37:g.179260106A>G	ENSP00000374455:p.Ser277Gly					SQSTM1_uc011dgr.1_Missense_Mutation_p.S193G|SQSTM1_uc011dgs.1_Missense_Mutation_p.S193G|SQSTM1_uc003mkv.3_Missense_Mutation_p.S277G|SQSTM1_uc003mkx.2_Missense_Mutation_p.S193G	p.S277G	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	924	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	277			Interaction with NTRK1 (By similarity).|Ser-rich.		A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	37	c.829A>G	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	A	4.874	0.162384	0.09287	.	.	ENSG00000161011	ENST00000376929;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000510187;ENST00000360718	D;D;D;T;D	0.82526	-1.62;-1.62;-1.62;2.34;-1.62	5.0	3.84	0.44239	.	0.387327	0.34088	N	0.004266	T	0.68302	0.2986	L	0.39898	1.24	0.29290	N	0.869394	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.52990	-0.8501	10	0.05959	T	0.93	-13.9965	4.5368	0.12038	0.7369:0.0:0.0927:0.1704	.	277;277	Q13501;E7EMC7	SQSTM_HUMAN;.	G	193;277;133;193;277;193	ENSP00000366128:S193G;ENSP00000374455:S277G;ENSP00000385553:S193G;ENSP00000424477:S277G;ENSP00000353944:S193G	ENSP00000353944:S193G	S	+	1	0	SQSTM1	179192712	0.036000	0.19791	0.188000	0.23233	0.163000	0.22366	1.542000	0.36137	0.863000	0.35553	0.402000	0.26972	AGC		0.597	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1			13	53	0	0	0	0.003163	0	13	53				
HIST1H2BJ	8970	broad.mit.edu	37	6	27100390	27100390	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr6:27100390T>G	ENST00000607124.1	-	1	139	c.140A>C	c.(139-141)aAg>aCg	p.K47T	HIST1H2AG_ENST00000359193.2_5'Flank|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.K47T|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.K47T			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	47					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K47T(1)		breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						GTGGACCTGCTTCAGAACCTT	0.552																																							uc003niv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(139-141)AAG>ACG		histone cluster 1, H2bj							219.0	207.0	211.0					6																	27100390		2203	4300	6503	SO:0001583	missense	8970				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27100390T>G	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"""Histones / Replication-dependent"""	4761	protein-coding gene	gene with protein product		615044	"""H2B histone family, member R"", ""histone 1, H2bj"""	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.140A>C	6.37:g.27100390T>G	ENSP00000476136:p.Lys47Thr					HIST1H2BJ_uc003niu.1_RNA|HIST1H2AG_uc003niw.2_5'Flank	p.K47T	NM_021058	NP_066402	P06899	H2B1J_HUMAN			1	186	-			47					B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	37	c.140A>C	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	T	15.09	2.730489	0.48939	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.72167	-0.63;-0.63	4.17	4.17	0.49024	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.72622	0.3483	M	0.89163	3.01	0.51233	D	0.999917	P	0.40515	0.719	P	0.46026	0.501	T	0.79626	-0.1725	9	0.87932	D	0	.	11.8274	0.52275	0.0:0.0:0.0:1.0	.	47	P06899	H2B1J_HUMAN	T	47	ENSP00000445633:K47T;ENSP00000342886:K47T	ENSP00000342886:K47T	K	-	2	0	HIST1H2BJ	27208369	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	5.316000	0.65815	1.844000	0.53588	0.482000	0.46254	AAG		0.552	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		5	260	0	0	0	0.001168	0	5	260				
SKIV2L	6499	broad.mit.edu	37	6	31930285	31930285	+	Silent	SNP	G	G	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr6:31930285G>C	ENST00000375394.2	+	11	1247	c.1134G>C	c.(1132-1134)ggG>ggC	p.G378G	SKIV2L_ENST00000544581.1_Silent_p.G185G	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	378	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)	p.G378G(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						ACACATTCGGGGATGTGGGGC	0.562																																							uc003nyn.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(1132-1134)GGG>GGC		superkiller viralicidic activity 2-like homolog							69.0	64.0	66.0					6																	31930285		2203	4300	6503	SO:0001819	synonymous_variant	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31930285G>C		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1134G>C	6.37:g.31930285G>C						SKIV2L_uc011dou.1_Silent_p.G220G|SKIV2L_uc011dov.1_Silent_p.G185G	p.G378G	NM_006929	NP_008860	Q15477	SKIV2_HUMAN			11	1523	+			378			Helicase ATP-binding.		O15005|Q12902|Q15476|Q5ST66	Silent	SNP	ENST00000375394.2	37	c.1134G>C	CCDS4731.1																																																																																				0.562	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			10	45	0	0	0	0.010729	0	10	45				
CUL7	9820	broad.mit.edu	37	6	43017790	43017790	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr6:43017790A>G	ENST00000265348.3	-	6	1565	c.1480T>C	c.(1480-1482)Tgg>Cgg	p.W494R	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Missense_Mutation_p.W578R			Q14999	CUL7_HUMAN	cullin 7	494					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.W494R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGTTCCCACCACTCAGCCAGG	0.562																																							uc003otq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)	4						c.(1480-1482)TGG>CGG		cullin 7							117.0	105.0	109.0					6																	43017790		2203	4300	6503	SO:0001583	missense	9820				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding	g.chr6:43017790A>G	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1480T>C	6.37:g.43017790A>G	ENSP00000265348:p.Trp494Arg					CUL7_uc011dvb.1_Missense_Mutation_p.W578R|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	p.W494R	NM_014780	NP_055595	Q14999	CUL7_HUMAN	all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		6	1783	-			494					B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	ENST00000265348.3	37	c.1480T>C	CCDS4881.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390170	0.82902	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.64618	-0.11;-0.11	5.12	5.12	0.69794	.	0.125962	0.56097	D	0.000021	T	0.72922	0.3521	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77830	-0.2442	10	0.87932	D	0	-18.6975	14.9461	0.71032	1.0:0.0:0.0:0.0	.	578;494	F5H0L1;Q14999	.;CUL7_HUMAN	R	494;578	ENSP00000265348:W494R;ENSP00000438788:W578R	ENSP00000265348:W494R	W	-	1	0	CUL7	43125768	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	8.430000	0.90283	1.941000	0.56285	0.533000	0.62120	TGG		0.562	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040575.1	NM_014780		34	91	0	0	0	0.003755	0	34	91				
DST	667	broad.mit.edu	37	6	56418066	56418066	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr6:56418066A>G	ENST00000361203.3	-	57	14898	c.14891T>C	c.(14890-14892)gTa>gCa	p.V4964A	DST_ENST00000370769.4_Missense_Mutation_p.V4966A|DST_ENST00000244364.6_Missense_Mutation_p.V2552A|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.V4640A|DST_ENST00000370754.5_Missense_Mutation_p.V5144A|DST_ENST00000421834.2_Missense_Mutation_p.V2878A|DST_ENST00000370788.2_Missense_Mutation_p.V2878A			Q03001	DYST_HUMAN	dystonin	4964					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.V4966A(1)|p.V2552A(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAGAGTCTCTACTTGCTCTTT	0.358																																							uc003pdf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(9166-9168)GTA>GCA		dystonin isoform 2							176.0	176.0	176.0					6																	56418066		1823	4070	5893	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56418066A>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.14891T>C	6.37:g.56418066A>G	ENSP00000354508:p.Val4964Ala					DST_uc003pcz.3_Missense_Mutation_p.V2878A|DST_uc011dxj.1_Missense_Mutation_p.V2907A|DST_uc011dxk.1_Missense_Mutation_p.V2918A|DST_uc003pcy.3_Missense_Mutation_p.V2552A	p.V3056A	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		55	9195	-	Lung NSC(77;0.103)		4964					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.9167T>C		.	.	.	.	.	.	.	.	.	.	A	8.862	0.947287	0.18356	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.76	5.76	0.90799	.	0.000000	0.47455	D	0.000229	T	0.20210	0.0486	M	0.64404	1.975	0.25950	N	0.982761	P;B;B;B;B	0.42757	0.789;0.029;0.029;0.003;0.013	B;B;B;B;B	0.40066	0.318;0.034;0.056;0.001;0.02	T	0.07385	-1.0775	9	0.19590	T	0.45	.	16.3634	0.83296	1.0:0.0:0.0:0.0	.	2878;4966;5144;4964;2552	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	A	2552;5144;4966;2878;4640;2878;4964	ENSP00000244364:V2552A;ENSP00000359790:V5144A;ENSP00000359805:V4966A;ENSP00000400883:V2878A;ENSP00000393645:V4640A;ENSP00000359824:V2878A;ENSP00000354508:V4964A	ENSP00000244364:V2552A	V	-	2	0	DST	56526025	1.000000	0.71417	0.030000	0.17652	0.939000	0.58152	6.284000	0.72652	2.324000	0.78689	0.533000	0.62120	GTA		0.358	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		17	213	0	0	0	0.008871	0	17	213				
FAM46A	55603	broad.mit.edu	37	6	82461603	82461603	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr6:82461603C>G	ENST00000320172.6	-	2	570	c.256G>C	c.(256-258)Ggg>Cgg	p.G86R	FAM46A_ENST00000369756.3_Missense_Mutation_p.G167R|FAM46A_ENST00000369754.3_Missense_Mutation_p.G105R	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	86					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)	p.G86R(1)		endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		TTGCCGCGCCCGTGAATCGGA	0.652																																							uc003pjg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(256-258)GGG>CGG		hypothetical protein LOC55603							55.0	49.0	51.0					6																	82461603		2201	4295	6496	SO:0001583	missense	55603							g.chr6:82461603C>G	AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"""chromosome 6 open reading frame 37"""	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.256G>C	6.37:g.82461603C>G	ENSP00000318298:p.Gly86Arg					FAM46A_uc003pjf.2_Missense_Mutation_p.G105R|FAM46A_uc003pjh.1_Missense_Mutation_p.G86R	p.G86R	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0428)	2	574	-		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)	86					A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Missense_Mutation	SNP	ENST00000320172.6	37	c.256G>C	CCDS34489.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755488	0.69648	.	.	ENSG00000112773	ENST00000369754;ENST00000320172;ENST00000369756	T;T;T	0.29655	1.56;1.56;1.56	5.32	4.45	0.53987	Domain of unknown function DUF1693 (1);	0.097462	0.64402	N	0.000001	T	0.28599	0.0708	M	0.89715	3.055	0.80722	D	1	B;B	0.14438	0.01;0.008	B;B	0.23419	0.046;0.04	T	0.25779	-1.0122	9	.	.	.	-3.2192	13.6016	0.62022	0.0:0.925:0.0:0.075	.	86;105	Q96IP4;Q96IP4-2	FA46A_HUMAN;.	R	105;86;167	ENSP00000358769:G105R;ENSP00000318298:G86R;ENSP00000358771:G167R	.	G	-	1	0	FAM46A	82518322	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	7.283000	0.78640	1.484000	0.48361	0.563000	0.77884	GGG		0.652	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1			6	70	0	0	0	0.00308	0	6	70				
GRIK2	2898	broad.mit.edu	37	6	102250223	102250223	+	Silent	SNP	C	C	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr6:102250223C>G	ENST00000421544.1	+	8	1603	c.1113C>G	c.(1111-1113)ctC>ctG	p.L371L	GRIK2_ENST00000369138.1_Silent_p.L371L|GRIK2_ENST00000369137.3_Silent_p.L371L|GRIK2_ENST00000413795.1_Silent_p.L371L|GRIK2_ENST00000369134.4_Silent_p.L322L|GRIK2_ENST00000318991.6_Silent_p.L371L	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	371					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.L371L(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GGGAAGGCCTCACAGGCAGAA	0.338																																							uc003pqp.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(1111-1113)CTC>CTG		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						105.0	104.0	104.0					6																	102250223		2203	4299	6502	SO:0001819	synonymous_variant	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102250223C>G		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.1113C>G	6.37:g.102250223C>G						GRIK2_uc003pqn.2_Silent_p.L371L|GRIK2_uc003pqo.3_Silent_p.L371L|GRIK2_uc010kcw.2_Silent_p.L371L	p.L371L	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	8	1362	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	371			Extracellular (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	ENST00000421544.1	37	c.1113C>G	CCDS5048.1																																																																																				0.338	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			5	9	0	0	0	0.001168	0	5	9				
ECT2L	345930	broad.mit.edu	37	6	139135693	139135693	+	Silent	SNP	A	A	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr6:139135693A>G	ENST00000423192.1	+	3	293	c.132A>G	c.(130-132)caA>caG	p.Q44Q	ECT2L_ENST00000541398.1_5'UTR|ECT2L_ENST00000367682.2_Silent_p.Q44Q			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	44							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q44Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						AGCAACGTCAAGAATTCTTAT	0.358			"""N, Splice, Mis"""		ETP ALL																																		uc003qif.1		NA		Rec	yes		6	6q24.1	345930		epithelial cell transforming sequence 2 oncogene-like			L					1	Substitution - coding silent(1)		lung(1)		0						c.(130-132)CAA>CAG		epithelial cell transforming sequence 2							84.0	81.0	82.0					6																	139135693		1820	4082	5902	SO:0001819	synonymous_variant	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139135693A>G		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.132A>G	6.37:g.139135693A>G						ECT2L_uc011edq.1_5'UTR	p.Q44Q	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN			2	235	+			44					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Silent	SNP	ENST00000423192.1	37	c.132A>G	CCDS43508.1																																																																																				0.358	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		5	45	0	0	0	0.001168	0	5	45				
ZNF804B	219578	broad.mit.edu	37	7	88964342	88964342	+	Silent	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr7:88964342C>A	ENST00000333190.4	+	4	2655	c.2046C>A	c.(2044-2046)atC>atA	p.I682I		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	682							metal ion binding (GO:0046872)	p.I682I(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTAACCACATCAGCATGACCA	0.433										HNSCC(36;0.09)																													uc011khi.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(2044-2046)ATC>ATA		zinc finger protein 804B							83.0	79.0	80.0					7																	88964342		2203	4300	6503	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88964342C>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2046C>A	7.37:g.88964342C>A		HNSCC(36;0.09)					p.I682I	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2584	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		682					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.2046C>A	CCDS5613.1																																																																																				0.433	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		14	45	1	0	6.72482e-11	0.003163	8.98211e-11	14	45				
ZAN	7455	broad.mit.edu	37	7	100349509	100349509	+	RNA	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr7:100349509C>A	ENST00000348028.3	+	0	1946				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P594H(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCACCATTCCCACAGAAAAA	0.468																																							uc003uwj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(1780-1782)CCC>CAC		zonadhesin isoform 3							201.0	228.0	220.0					7																	100349509		1863	4107	5970			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100349509C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349509C>A						ZAN_uc003uwk.2_Missense_Mutation_p.P594H|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.P594H	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		14	1946	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		594			66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.1781C>A		.	.	.	.	.	.	.	.	.	.	c	7.989	0.752775	0.15778	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.69175	-0.38;-0.38;-0.38	2.68	1.79	0.24919	.	.	.	.	.	T	0.71854	0.3389	M	0.62723	1.935	0.09310	N	0.999996	D;D	0.69078	0.997;0.994	P;P	0.57548	0.823;0.669	T	0.59600	-0.7424	9	0.59425	D	0.04	.	7.6665	0.28434	0.0:0.8632:0.0:0.1368	.	594;594	F5H0T8;Q9Y493	.;ZAN_HUMAN	H	594	ENSP00000445943:P594H;ENSP00000445091:P594H;ENSP00000444427:P594H	ENSP00000423579:P594H	P	+	2	0	ZAN	100187445	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.134000	0.15932	0.697000	0.31718	-0.450000	0.05554	CCC		0.468	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		14	51	1	0	7.93312e-07	0.00245	9.52972e-07	14	51				
SMO	6608	broad.mit.edu	37	7	128846405	128846405	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr7:128846405T>C	ENST00000249373.3	+	6	1521	c.1241T>C	c.(1240-1242)gTg>gCg	p.V414A		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	414					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.V414A(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	GTGCTCATCGTGGGAGGCTAC	0.572			Mis		skin basal cell																																		uc003vor.2		NA		Dom	yes		7	7q31-q32	6608	Mis	smoothened homolog (Drosophila)			E			skin basal cell 		1	Substitution - Missense(1)		lung(1)	skin(19)|large_intestine(10)|central_nervous_system(3)|upper_aerodigestive_tract(2)|biliary_tract(1)|lung(1)|liver(1)	37						c.(1240-1242)GTG>GCG		smoothened precursor							178.0	153.0	161.0					7																	128846405		2203	4300	6503	SO:0001583	missense	6608				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:128846405T>C	U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1241T>C	7.37:g.128846405T>C	ENSP00000249373:p.Val414Ala					SMO_uc003vos.2_Missense_Mutation_p.V89A	p.V414A	NM_005631	NP_005622	Q99835	SMO_HUMAN			6	1521	+			414			Helical; Name=5; (Potential).		A4D1K5	Missense_Mutation	SNP	ENST00000249373.3	37	c.1241T>C	CCDS5811.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.178523	0.57692	.	.	ENSG00000128602	ENST00000249373	D	0.85013	-1.93	5.29	5.29	0.74685	GPCR, family 2-like (1);	0.055856	0.64402	D	0.000001	D	0.84288	0.5439	M	0.62723	1.935	0.54753	D	0.999986	B;B	0.29481	0.008;0.245	B;B	0.31946	0.008;0.138	D	0.84314	0.0512	10	0.87932	D	0	.	14.4023	0.67056	0.0:0.0:0.0:1.0	.	414;414	A4D1K5;Q99835	.;SMO_HUMAN	A	414	ENSP00000249373:V414A	ENSP00000249373:V414A	V	+	2	0	SMO	128633641	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.264000	0.72527	2.011000	0.59026	0.459000	0.35465	GTG		0.572	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631		47	179	0	0	0	0.01441	0	47	179				
PLXNA4	91584	broad.mit.edu	37	7	131887475	131887475	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr7:131887475G>T	ENST00000359827.3	-	12	3478	c.2516C>A	c.(2515-2517)cCt>cAt	p.P839H	PLXNA4_ENST00000321063.4_Missense_Mutation_p.P839H			Q9HCM2	PLXA4_HUMAN	plexin A4	839	PSI 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.P839H(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCCTGGGCAGGGCAGTGCTG	0.657																																							uc003vra.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2515-2517)CCT>CAT		plexin A4 isoform 1							29.0	32.0	31.0					7																	131887475		2057	4200	6257	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131887475G>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2516C>A	7.37:g.131887475G>T	ENSP00000352882:p.Pro839His						p.P839H	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			12	2745	-			839			PSI 3.|Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.2516C>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.885333	0.72410	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.17213	2.29;2.29	4.5	4.5	0.54988	.	0.129095	0.53938	D	0.000042	T	0.30727	0.0774	M	0.71581	2.175	0.41839	D	0.990119	D	0.53312	0.959	P	0.55545	0.778	T	0.03514	-1.1029	10	0.62326	D	0.03	.	8.4421	0.32820	0.1721:0.0:0.8279:0.0	.	839	Q9HCM2	PLXA4_HUMAN	H	839	ENSP00000323194:P839H;ENSP00000352882:P839H	ENSP00000323194:P839H	P	-	2	0	PLXNA4	131538015	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	3.729000	0.54999	2.350000	0.79820	0.561000	0.74099	CCT		0.657	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		9	33	1	0	0.000442599	0.006214	0.000491491	9	33				
CLCN1	1180	broad.mit.edu	37	7	143029825	143029825	+	Silent	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr7:143029825C>A	ENST00000343257.2	+	12	1347	c.1260C>A	c.(1258-1260)ccC>ccA	p.P420P		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	420					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.P420P(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AGTTGATGCCCCGCGAAGCCA	0.522																																							uc003wcr.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1258-1260)CCC>CCA		chloride channel 1, skeletal muscle							166.0	158.0	161.0					7																	143029825		2203	4300	6503	SO:0001819	synonymous_variant	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143029825C>A	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1260C>A	7.37:g.143029825C>A						CLCN1_uc011ktc.1_Intron	p.P420P	NM_000083	NP_000074	P35523	CLCN1_HUMAN			12	1347	+	Melanoma(164;0.205)		420					A4D2H5|Q2M202	Silent	SNP	ENST00000343257.2	37	c.1260C>A	CCDS5881.1																																																																																				0.522	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		56	206	1	0	4.83215e-14	0.01441	6.78632e-14	56	206				
SSPO	23145	broad.mit.edu	37	7	149480000	149480000	+	RNA	SNP	C	C	T			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr7:149480000C>T	ENST00000378016.2	+	0	1966							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTCAGTGTGCGCCGAGCTTC	0.662																																							uc010lpk.2		NA																	0					0						c.(1966-1968)CGC>TGC		SCO-spondin precursor							45.0	55.0	51.0					7																	149480000		2156	4251	6407			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149480000C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149480000C>T						SSPO_uc010lpl.1_Intron	p.R656C	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		15	1966	+	Melanoma(164;0.165)|Ovarian(565;0.177)		656			VWFD 2.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.1966C>T																																																																																					0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				5	34	0	0	0	0.001168	0	5	34				
KMT2C	58508	broad.mit.edu	37	7	151962175	151962175	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr7:151962175A>C	ENST00000262189.6	-	8	1350	c.1132T>G	c.(1132-1134)Tta>Gta	p.L378V	KMT2C_ENST00000355193.2_Missense_Mutation_p.L378V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	378					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L378V(2)									GCACGTTTTAATGGAGTAACC	0.453																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(1132-1134)TTA>GTA		myeloid/lymphoid or mixed-lineage leukemia 3							448.0	401.0	417.0					7																	151962175		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151962175A>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1132T>G	7.37:g.151962175A>C	ENSP00000262189:p.Leu378Val						p.L378V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	8	1351	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	378			PHD-type 1.|RING-type.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1132T>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	7.514	0.655346	0.14580	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98792	-5.14;-5.14	4.65	2.16	0.27623	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.33040	U	0.005353	D	0.96253	0.8778	N	0.11673	0.155	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	D	0.92121	0.5704	10	0.02654	T	1	.	8.0492	0.30568	0.6807:0.0:0.3193:0.0	.	378	Q8NEZ4	MLL3_HUMAN	V	378	ENSP00000262189:L378V;ENSP00000347325:L378V	ENSP00000262189:L378V	L	-	1	2	MLL3	151593108	0.999000	0.42202	1.000000	0.80357	0.082000	0.17680	0.954000	0.29175	0.213000	0.20722	-0.385000	0.06624	TTA		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			8	311	0	0	0	0.004007	0	8	311				
RP1L1	94137	broad.mit.edu	37	8	10465434	10465434	+	Silent	SNP	C	C	T	rs200660179		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr8:10465434C>T	ENST00000382483.3	-	4	6397	c.6174G>A	c.(6172-6174)ccG>ccA	p.P2058P		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2138	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.P2058P(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTCTGCCTCCGGGGCCTCTA	0.617													T|||	1	0.000199681	0.0008	0.0	5008	,	,		19516	0.0		0.0	False		,,,				2504	0.0						uc003wtc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(6172-6174)CCG>CCA		retinitis pigmentosa 1-like 1							121.0	137.0	132.0					8																	10465434		2081	4200	6281	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10465434C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6174G>A	8.37:g.10465434C>T							p.P2058P	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6403	-			2058					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.6174G>A	CCDS43708.1																																																																																				0.617	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			59	183	0	0	0	0.01441	0	59	183				
ZFHX4	79776	broad.mit.edu	37	8	77763345	77763345	+	Silent	SNP	G	G	A	rs564331284		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr8:77763345G>A	ENST00000521891.2	+	10	4636	c.4188G>A	c.(4186-4188)aaG>aaA	p.K1396K	ZFHX4_ENST00000518282.1_Silent_p.K1370K|ZFHX4_ENST00000455469.2_Silent_p.K1351K|ZFHX4_ENST00000050961.6_Silent_p.K1351K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1351					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.K1396K(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGTCTACAAGTATCGCTGTA	0.428										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4051-4053)AAG>AAA		zinc finger homeodomain 4							94.0	89.0	90.0					8																	77763345		1895	4118	6013	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763345G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4188G>A	8.37:g.77763345G>A		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.K1396K|ZFHX4_uc003yaw.1_Silent_p.K1351K	p.K1351K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4440	+			1351					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.4053G>A	CCDS47878.2																																																																																				0.428	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		10	44	0	0	0	0.006214	0	10	44				
ZFHX4	79776	broad.mit.edu	37	8	77776174	77776174	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr8:77776174C>A	ENST00000521891.2	+	11	10672	c.10224C>A	c.(10222-10224)tgC>tgA	p.C3408*	ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.C3382*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.C3363*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.C3359*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.C3392W(1)|p.C3392*(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAGAAAGTGCCAGATGATGT	0.413										HNSCC(33;0.089)																													uc003yav.2		NA																	2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(1)|endometrium(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(10087-10089)TGC>TGA		zinc finger homeodomain 4							53.0	48.0	50.0					8																	77776174		1883	4125	6008	SO:0001587	stop_gained	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77776174C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.10224C>A	8.37:g.77776174C>A	ENSP00000430497:p.Cys3408*	HNSCC(33;0.089)					p.C3363*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	10476	+			3359			C2H2-type 19; degenerate.		G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	37	c.10089C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	52	18.829050	0.99911	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	4.91	4.91	0.64330	.	0.000000	0.48767	U	0.000162	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3059	0.90180	0.0:1.0:0.0:0.0	.	.	.	.	X	3408;3392;3363;3359;3382	.	ENSP00000050961:C3359X	C	+	3	2	ZFHX4	77938729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.810000	0.69179	2.577000	0.86979	0.655000	0.94253	TGC		0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		4	10	1	0	0.00909568	0.009096	0.00954547	4	10				
FER1L6	654463	broad.mit.edu	37	8	125047562	125047562	+	Silent	SNP	C	C	A	rs199510818		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr8:125047562C>A	ENST00000522917.1	+	19	2537	c.2331C>A	c.(2329-2331)gtC>gtA	p.V777V	RP11-959I15.4_ENST00000522005.1_RNA|FER1L6_ENST00000399018.1_Silent_p.V777V|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	777						integral component of membrane (GO:0016021)		p.V777V(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGCAAAAGTCGACGTGTACC	0.498																																							uc003yqw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.(2329-2331)GTC>GTA		fer-1-like 6							98.0	98.0	98.0					8																	125047562		1948	4153	6101	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125047562C>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2331C>A	8.37:g.125047562C>A						uc003yqx.1_Intron	p.V777V	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		19	2537	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		777			Cytoplasmic (Potential).			Silent	SNP	ENST00000522917.1	37	c.2331C>A	CCDS43767.1																																																																																				0.498	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		17	69	1	0	3.32936e-07	0.006122	4.07633e-07	17	69				
PARP10	84875	broad.mit.edu	37	8	145058247	145058247	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr8:145058247A>G	ENST00000313028.7	-	7	1800	c.1706T>C	c.(1705-1707)gTg>gCg	p.V569A	PARP10_ENST00000524918.1_Missense_Mutation_p.V569A|PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000525773.1_Missense_Mutation_p.V581A	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	569					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.V569A(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCAGGGAGCACTGGGAGGGC	0.652																																							uc003zal.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6						c.(1705-1707)GTG>GCG		poly (ADP-ribose) polymerase family, member 10							55.0	62.0	60.0					8																	145058247		2203	4300	6503	SO:0001583	missense	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145058247A>G	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.1706T>C	8.37:g.145058247A>G	ENSP00000325618:p.Val569Ala					PARP10_uc003zak.3_Missense_Mutation_p.V275A|PARP10_uc011lku.1_Missense_Mutation_p.V581A|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.V569A	p.V569A	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		7	1814	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		569					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	c.1706T>C	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	A	6.632	0.484971	0.12641	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.10192	2.91;2.9;2.9	3.62	-6.32	0.01995	.	2.561300	0.01785	N	0.031960	T	0.04588	0.0125	N	0.11560	0.145	0.09310	N	1	B;B	0.14438	0.0;0.01	B;B	0.11329	0.002;0.006	T	0.34875	-0.9811	10	0.10377	T	0.69	.	5.4006	0.16293	0.32:0.2861:0.3939:0.0	.	581;569	E9PNI7;Q53GL7	.;PAR10_HUMAN	A	569;275;569;581	ENSP00000431620:V569A;ENSP00000325618:V569A;ENSP00000434776:V581A	ENSP00000325618:V569A	V	-	2	0	PARP10	145130235	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.109000	0.10840	-0.930000	0.03752	-0.513000	0.04457	GTG		0.652	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		11	38	0	0	0	0.010729	0	11	38				
TAF1L	138474	broad.mit.edu	37	9	32633525	32633525	+	Missense_Mutation	SNP	G	G	A	rs147409173		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr9:32633525G>A	ENST00000242310.4	-	1	2142	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	685					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R685C(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGAGGTGTGCGCATAAAAAAC	0.448																																							uc003zrg.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(2053-2055)CGC>TGC		TBP-associated factor RNA polymerase 1-like		G	CYS/ARG	0,4406		0,0,2203	180.0	164.0	169.0		2053	0.6	1.0	9	dbSNP_134	169	1,8599	1.2+/-3.3	0,1,4299	no	missense	TAF1L	NM_153809.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	685/1827	32633525	1,13005	2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633525G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2053C>T	9.37:g.32633525G>A	ENSP00000418379:p.Arg685Cys					uc003zrh.1_RNA	p.R685C	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2143	-			685					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2053C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896532	0.72639	0.0	1.16E-4	ENSG00000122728	ENST00000242310	T	0.10288	2.89	0.633	0.633	0.17712	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.09773	-1.0659	10	0.87932	D	0	.	7.0483	0.25059	1.0E-4:0.0:0.9999:0.0	.	685	Q8IZX4	TAF1L_HUMAN	C	685	ENSP00000418379:R685C	ENSP00000418379:R685C	R	-	1	0	TAF1L	32623525	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	3.377000	0.52425	0.632000	0.30432	0.195000	0.17529	CGC		0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			4	159	0	0	0	0.009096	0	4	159				
MXRA5	25878	broad.mit.edu	37	X	3240769	3240769	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chrX:3240769G>C	ENST00000217939.6	-	5	3111	c.2957C>G	c.(2956-2958)tCa>tGa	p.S986*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	986						extracellular vesicular exosome (GO:0070062)		p.S986*(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATCTGGTTGTGACTTAGTCTC	0.478																																							uc004crg.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(2956-2958)TCA>TGA		adlican precursor							137.0	101.0	113.0					X																	3240769		2203	4300	6503	SO:0001587	stop_gained	25878					extracellular region		g.chrX:3240769G>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2957C>G	X.37:g.3240769G>C	ENSP00000217939:p.Ser986*						p.S986*	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	3114	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	986					Q6P1M7|Q9Y3Y8	Nonsense_Mutation	SNP	ENST00000217939.6	37	c.2957C>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	38	6.856015	0.97889	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	.	.	.	3.19	3.19	0.36642	.	1.094040	0.07292	U	0.872691	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	6.3412	0.21324	0.1488:0.0:0.8512:0.0	.	.	.	.	X	986	.	ENSP00000217939:S986X	S	-	2	0	MXRA5	3250769	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.529000	0.23019	1.378000	0.46305	0.529000	0.55759	TCA		0.478	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		4	61	0	0	0	0.009096	0	4	61				
PRKX	5613	broad.mit.edu	37	X	3573373	3573373	+	Missense_Mutation	SNP	C	C	A	rs145956134		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chrX:3573373C>A	ENST00000262848.5	-	3	770	c.416G>T	c.(415-417)cGc>cTc	p.R139L	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	139	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)	p.R139L(1)		kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CCCCCGGTTGCGCAGGTAGCT	0.602																																							uc010nde.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|lung(1)	3						c.(415-417)CGC>CTC		protein kinase, X-linked							72.0	67.0	69.0					X																	3573373		2203	4300	6503	SO:0001583	missense	5613						ATP binding|cAMP-dependent protein kinase activity	g.chrX:3573373C>A		CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.416G>T	X.37:g.3573373C>A	ENSP00000262848:p.Arg139Leu						p.R139L	NM_005044	NP_005035	P51817	PRKX_HUMAN			3	783	-		all_lung(23;0.000396)|Lung NSC(23;0.00123)	139			Protein kinase.			Missense_Mutation	SNP	ENST00000262848.5	37	c.416G>T	CCDS14125.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969861	0.53614	.	.	ENSG00000183943	ENST00000262848	T	0.66099	-0.19	3.7	1.9	0.25705	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66436	0.2789	L	0.37630	1.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64024	-0.6504	10	0.87932	D	0	-26.8188	8.1235	0.30984	0.0:0.7889:0.0:0.2111	.	139	P51817	PRKX_HUMAN	L	139	ENSP00000262848:R139L	ENSP00000262848:R139L	R	-	2	0	PRKX	3583373	1.000000	0.71417	0.008000	0.14137	0.391000	0.30476	4.736000	0.62059	0.050000	0.15949	0.529000	0.55759	CGC		0.602	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055659.1	NM_005044		25	17	1	0	2.61193e-14	0.009535	3.6954e-14	25	17				
FAM47C	442444	broad.mit.edu	37	X	37028496	37028496	+	Silent	SNP	C	C	T	rs369077079		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chrX:37028496C>T	ENST00000358047.3	+	1	2065	c.2013C>T	c.(2011-2013)ccC>ccT	p.P671P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	671								p.P671P(3)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGGAGCCCCCCGAGACTGGAG	0.647																																							uc004ddl.1		NA																	3	Substitution - coding silent(3)		lung(2)|central_nervous_system(1)	ovary(3)	3						c.(2011-2013)CCC>CCT		hypothetical protein LOC442444							17.0	18.0	18.0					X																	37028496		2146	4228	6374	SO:0001819	synonymous_variant	442444							g.chrX:37028496C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2013C>T	X.37:g.37028496C>T							p.P671P	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	2027	+			671					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.2013C>T	CCDS35227.1																																																																																				0.647	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		7	20	0	0	0	0.010729	0	7	20				
SEC16B	89866	broad.mit.edu	37	1	177901694	177901694	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr1:177901694delT	ENST00000308284.6	-	24	3032	c.2943delA	c.(2941-2943)gaafs	p.E981fs	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000495165.1_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	981					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						ATCCTCGGCCTTCACCCCCAC	0.662																																							uc001gli.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(2941-2943)GAAfs		leucine zipper transcription regulator 2							16.0	20.0	18.0					1																	177901694		1966	4113	6079	SO:0001589	frameshift_variant	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177901694delT	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2943delA	1.37:g.177901694delT	ENSP00000308339:p.Glu981fs					SEC16B_uc001glk.1_Frame_Shift_Del_p.E658fs|SEC16B_uc009wwy.1_Frame_Shift_Del_p.K500fs|SEC16B_uc001glh.1_Frame_Shift_Del_p.E641fs|SEC16B_uc009wwz.1_Frame_Shift_Del_p.E640fs|SEC16B_uc001glj.1_Frame_Shift_Del_p.E982fs	p.E981fs	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN			24	3033	-			981					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Frame_Shift_Del	DEL	ENST00000308284.6	37	c.2943delA	CCDS44281.1																																																																																				0.662	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
DOT1L	84444	broad.mit.edu	37	19	2213544	2213544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr19:2213544delA	ENST00000398665.3	+	17	1600	c.1564delA	c.(1564-1566)aacfs	p.N522fs	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	522					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGGAGAAGAACGCCCAGCT	0.607																																							uc002lvb.3		NA																	0				pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(1564-1566)AACfs		DOT1-like, histone H3 methyltransferase							44.0	48.0	46.0					19																	2213544		2001	4157	6158	SO:0001589	frameshift_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2213544delA	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.1564delA	19.37:g.2213544delA	ENSP00000381657:p.Asn522fs					DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_RNA|DOT1L_uc002lve.1_5'Flank	p.N522fs	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	17	1600	+		Hepatocellular(1079;0.137)	522					O60379|Q96JL1	Frame_Shift_Del	DEL	ENST00000398665.3	37	c.1564delA	CCDS42460.1																																																																																				0.607	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		22	54	NA	NA	NA	NA	NA	22	54	---	---	---	---
TTC7A	57217	broad.mit.edu	37	2	47233194	47233195	+	Frame_Shift_Del	DEL	CG	CG	-	rs142616749		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr2:47233194_47233195delCG	ENST00000319190.5	+	9	1567_1568	c.1199_1200delCG	c.(1198-1200)tcgfs	p.S400fs	TTC7A_ENST00000394850.2_Frame_Shift_Del_p.S400fs|TTC7A_ENST00000263737.6_Frame_Shift_Del_p.S46fs|TTC7A_ENST00000409245.1_Frame_Shift_Del_p.S366fs|TTC7A_ENST00000461601.1_3'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	400					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GTCATGCTCTCGGAGGTACGGC	0.584																																							uc002rvo.2		NA																	0				breast(1)|skin(1)	2						c.(1198-1200)TCGfs		tetratricopeptide repeat domain 7A																																				SO:0001589	frameshift_variant	57217						binding	g.chr2:47233194_47233195delCG	AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.1199_1200delCG	2.37:g.47233194_47233195delCG	ENSP00000316699:p.Ser400fs					TTC7A_uc002rvm.2_Frame_Shift_Del_p.S366fs|TTC7A_uc002rvn.1_Frame_Shift_Del_p.S281fs|TTC7A_uc010fbb.2_Frame_Shift_Del_p.S400fs|TTC7A_uc010fbc.2_Frame_Shift_Del_p.S46fs|TTC7A_uc002rvp.2_Frame_Shift_Del_p.S281fs|TTC7A_uc002rvq.2_Frame_Shift_Del_p.S140fs|TTC7A_uc002rvr.2_5'UTR	p.S400fs	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		9	1567_1568	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	400					Q6PIX4|Q8ND67|Q9BUS3	Frame_Shift_Del	DEL	ENST00000319190.5	37	c.1199_1200delCG	CCDS33193.1																																																																																				0.584	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927		11	65	NA	NA	NA	NA	NA	11	65	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73676086	73676093	+	Frame_Shift_Del	DEL	ACTCACAC	ACTCACAC	-	rs376991574		TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	ACTCACAC	ACTCACAC	-	-	ACTCACAC	ACTCACAC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr2:73676086_73676093delACTCACAC	ENST00000264448.6	+	8	2540_2547	c.2429_2436delACTCACAC	c.(2428-2436)tactcacacfs	p.YSH810fs	ALMS1_ENST00000377715.1_Frame_Shift_Del_p.YSH810fs|ALMS1_ENST00000409009.1_Frame_Shift_Del_p.YSH768fs	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	810	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCTAGTGCATACTCACACAGAGAGAAGC	0.505																																							uc002sje.1		NA																	0				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(2434-2442)TACTCACACfs		Alstrom syndrome 1																																				SO:0001589	frameshift_variant	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73676086_73676093delACTCACAC	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.2429_2436delACTCACAC	2.37:g.73676086_73676093delACTCACAC	ENSP00000264448:p.Tyr810fs					ALMS1_uc002sjf.1_Frame_Shift_Del_p.Y768fs|ALMS1_uc002sjg.2_Frame_Shift_Del_p.Y198fs|ALMS1_uc002sjh.1_Frame_Shift_Del_p.Y198fs	p.Y812fs	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	2546_2553	+			810_812			6.|34 X 47 AA approximate tandem repeat.		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Frame_Shift_Del	DEL	ENST00000264448.6	37	c.2435_2442delACTCACAC	CCDS42697.1																																																																																				0.505	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		32	122	NA	NA	NA	NA	NA	32	122	---	---	---	---
LAMC3	10319	broad.mit.edu	37	9	133946977	133946977	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4384-01A-01D-1753-08	TCGA-05-4384-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	4c71b66b-813f-472b-b866-b34b5b9199e7	2011ef98-2f99-44e0-a561-e14eb6f2d1f8	g.chr9:133946977delG	ENST00000361069.4	+	18	3309	c.3176delG	c.(3175-3177)aggfs	p.R1059fs	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1059	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GAGGCCCCAAGGGGGGACGTC	0.657																																							uc004caa.1		NA																	0				ovary(2)|pancreas(1)	3						c.(3175-3177)AGGfs		laminin, gamma 3 precursor							47.0	47.0	47.0					9																	133946977		2203	4300	6503	SO:0001589	frameshift_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133946977delG	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3176delG	9.37:g.133946977delG	ENSP00000354360:p.Arg1059fs						p.R1059fs	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	18	3274	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1059			Cell attachment site (Potential).|Domain II and I.		B1APX9|B1APY0|Q59H72	Frame_Shift_Del	DEL	ENST00000361069.4	37	c.3176delG	CCDS6938.1																																																																																				0.657	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		16	65	NA	NA	NA	NA	NA	16	65	---	---	---	---
