#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
AKR7A3	22977	broad.mit.edu	37	1	19612764	19612764	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:19612764C>T	ENST00000361640.4	-	2	857	c.317G>A	c.(316-318)cGa>cAa	p.R106Q		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	106					cellular aldehyde metabolic process (GO:0006081)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)	p.R106Q(1)		NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGTCCACTCGGGGACACTG	0.592																																							uc001bbv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(316-318)CGA>CAA		aldo-keto reductase family 7, member A3							71.0	76.0	75.0					1																	19612764		2199	4300	6499	SO:0001583	missense	22977				cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity	g.chr1:19612764C>T	AF040639	CCDS193.1	1p36.13	2008-05-14			ENSG00000162482	ENSG00000162482		"""Aldo-keto reductases"""	390	protein-coding gene	gene with protein product		608477				10383892	Standard	NM_012067		Approved		uc001bbv.1	O95154	OTTHUMG00000002523	ENST00000361640.4:c.317G>A	1.37:g.19612764C>T	ENSP00000355377:p.Arg106Gln						p.R106Q	NM_012067	NP_036199	O95154	ARK73_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	2	394	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	106					Q86SR4|Q8IVN6|Q8N5V6|Q8TAX1|Q9NUC3	Missense_Mutation	SNP	ENST00000361640.4	37	c.317G>A	CCDS193.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483839	0.26598	.	.	ENSG00000162482	ENST00000361640	T	0.04360	3.64	3.36	2.39	0.29439	NADP-dependent oxidoreductase domain (3);	.	.	.	.	T	0.04227	0.0117	L	0.33093	0.98	0.21782	N	0.999542	B	0.14438	0.01	B	0.06405	0.002	T	0.43605	-0.9381	9	0.23302	T	0.38	.	8.4958	0.33127	0.0:0.8717:0.0:0.1283	.	106	O95154	ARK73_HUMAN	Q	106	ENSP00000355377:R106Q	ENSP00000355377:R106Q	R	-	2	0	AKR7A3	19485351	0.001000	0.12720	0.845000	0.33349	0.611000	0.37282	1.222000	0.32515	0.553000	0.29044	0.194000	0.17425	CGA		0.592	AKR7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007166.1	NM_012067		15	77	0	0	0	0.020292	0	15	77				
SPOCD1	90853	broad.mit.edu	37	1	32263879	32263879	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:32263879G>T	ENST00000360482.2	-	9	2203	c.2074C>A	c.(2074-2076)Ctg>Atg	p.L692M	SPOCD1_ENST00000257100.3_Missense_Mutation_p.L185M|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Missense_Mutation_p.L692M	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	692	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)			p.L692M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		ATCCGCACCAGGTCGTAGGGG	0.647																																							uc001bts.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)	6						c.(2074-2076)CTG>ATG		SPOC domain containing 1							65.0	72.0	70.0					1																	32263879		2203	4300	6503	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32263879G>T	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.2074C>A	1.37:g.32263879G>T	ENSP00000353670:p.Leu692Met					SPOCD1_uc001btt.2_Translation_Start_Site|SPOCD1_uc001btu.2_Missense_Mutation_p.L692M|SPOCD1_uc001btv.2_Missense_Mutation_p.L185M|SPOCD1_uc001btw.1_Missense_Mutation_p.L36M	p.L692M	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	9	2132	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	692			TFIIS central.		Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.2074C>A	CCDS347.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518255	0.64634	.	.	ENSG00000134668	ENST00000257100;ENST00000360482;ENST00000294514;ENST00000452755;ENST00000533231;ENST00000449266	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.08	5.08	0.68730	Transcription elongation factor S-II, central domain (4);	.	.	.	.	T	0.81711	0.4880	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.85151	0.0986	9	0.87932	D	0	-12.6123	14.3596	0.66761	0.0:0.0:1.0:0.0	.	36;692;692	Q6ZMY3-4;Q6ZMY3-2;Q6ZMY3	.;.;SPOC1_HUMAN	M	185;692;90;129;692;77	ENSP00000257100:L185M;ENSP00000353670:L692M;ENSP00000399778:L129M;ENSP00000435851:L692M	ENSP00000257100:L185M	L	-	1	2	SPOCD1	32036466	1.000000	0.71417	0.994000	0.49952	0.309000	0.27889	2.557000	0.45871	2.523000	0.85059	0.650000	0.86243	CTG		0.647	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		16	80	1	0	2.31682e-05	0.003163	2.6916e-05	16	80				
MCOLN3	55283	broad.mit.edu	37	1	85487776	85487776	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:85487776C>T	ENST00000370589.2	-	11	1349	c.1297G>A	c.(1297-1299)Gtg>Atg	p.V433M	MCOLN3_ENST00000341115.4_Missense_Mutation_p.V377M|MCOLN3_ENST00000474447.1_5'UTR|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	433					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V433M(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		GGCCCCAGCACGATCCATCCA	0.448																																							uc001dkp.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1297-1299)GTG>ATG		mucolipin 3							112.0	110.0	110.0					1																	85487776		2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85487776C>T	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1297G>A	1.37:g.85487776C>T	ENSP00000359621:p.Val433Met					MCOLN3_uc001dko.2_Missense_Mutation_p.V52M|MCOLN3_uc001dkq.2_Missense_Mutation_p.V377M	p.V433M	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	11	1390	-			433			Helical; (Potential).		Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.1297G>A	CCDS701.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490725	0.84962	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115	T;T	0.71461	-0.57;-0.57	5.7	5.7	0.88788	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	D	0.84352	0.5453	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85385	0.1122	10	0.66056	D	0.02	-13.358	19.8414	0.96690	0.0:1.0:0.0:0.0	.	377;433	Q8TDD5-2;Q8TDD5	.;MCLN3_HUMAN	M	433;433;377;377	ENSP00000359621:V433M;ENSP00000342698:V377M	ENSP00000304843:V433M	V	-	1	0	MCOLN3	85260364	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.441000	0.80485	2.680000	0.91292	0.563000	0.77884	GTG		0.448	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		6	76	0	0	0	0.001984	0	6	76				
HIST2H2AB	317772	broad.mit.edu	37	1	149859288	149859288	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:149859288G>C	ENST00000331128.3	-	1	178	c.179C>G	c.(178-180)aCc>aGc	p.T60S	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	60						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T60S(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			AATTTCCGCGGTCAGGTACTC	0.662																																							uc001ete.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(178-180)ACC>AGC		histone cluster 2, H2ab							49.0	53.0	51.0					1																	149859288		2203	4300	6503	SO:0001583	missense	317772				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149859288G>C	AY131972	CCDS938.1	1q21.2	2011-01-27	2006-10-11		ENSG00000184270	ENSG00000184270		"""Histones / Replication-dependent"""	20508	protein-coding gene	gene with protein product		615014	"""histone 2, H2ab"""			12408966	Standard	NM_175065		Approved		uc001ete.3	Q8IUE6	OTTHUMG00000012085	ENST00000331128.3:c.179C>G	1.37:g.149859288G>C	ENSP00000332790:p.Thr60Ser					HIST2H2BE_uc001etc.2_5'Flank	p.T60S	NM_175065	NP_778235	Q8IUE6	H2A2B_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	179	-	Breast(34;0.0124)|all_hematologic(923;0.127)		60						Missense_Mutation	SNP	ENST00000331128.3	37	c.179C>G	CCDS938.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.727811	0.30593	.	.	ENSG00000184270	ENST00000331128	T	0.69561	-0.41	5.27	5.27	0.74061	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.85682	D	0.000000	T	0.46014	0.1371	L	0.43554	1.36	0.40120	D	0.976595	B	0.20261	0.043	B	0.24848	0.056	T	0.48468	-0.9033	10	0.42905	T	0.14	.	11.7948	0.52093	0.0:0.0:0.8246:0.1754	.	60	Q8IUE6	H2A2B_HUMAN	S	60	ENSP00000332790:T60S	ENSP00000332790:T60S	T	-	2	0	HIST2H2AB	148125912	1.000000	0.71417	0.985000	0.45067	0.781000	0.44180	9.785000	0.99042	2.621000	0.88768	0.655000	0.94253	ACC		0.662	HIST2H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033440.1	NM_175065		12	83	0	0	0	0.013537	0	12	83				
KLHL20	27252	broad.mit.edu	37	1	173735414	173735414	+	Silent	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:173735414C>T	ENST00000209884.4	+	8	1417	c.1281C>T	c.(1279-1281)ctC>ctT	p.L427L	KLHL20_ENST00000546011.1_Silent_p.L238L	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	427					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)	p.L427L(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TGTCTTGCCTCAACATTGTTG	0.428																																					GBM(159;862 2695 6559 23041)	GBM(159;862 2695 6559 23041)	uc001gjc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1279-1281)CTC>CTT		kelch-like 20							266.0	245.0	252.0					1																	173735414		2203	4300	6503	SO:0001819	synonymous_variant	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173735414C>T	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.1281C>T	1.37:g.173735414C>T						KLHL20_uc010pmr.1_Silent_p.L238L|KLHL20_uc009wwf.2_Silent_p.L409L	p.L427L	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN			8	1460	+			427			Kelch 3.		B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	ENST00000209884.4	37	c.1281C>T	CCDS1310.1																																																																																				0.428	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	NM_014458		9	145	0	0	0	0.004482	0	9	145				
GPR52	9293	broad.mit.edu	37	1	174417353	174417353	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:174417353G>C	ENST00000367685.2	+	1	142	c.104G>C	c.(103-105)aGt>aCt	p.S35T	RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	35					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.S35T(1)		breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						GGCCACTACAGTGTGGTGGAT	0.463																																					Ovarian(92;924 1390 1930 16467 40583)	Ovarian(92;924 1390 1930 16467 40583)	uc001gka.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(103-105)AGT>ACT		G protein-coupled receptor 52							221.0	184.0	196.0					1																	174417353		2203	4300	6503	SO:0001583	missense	9293					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:174417353G>C	AF096784	CCDS30941.1	1q24	2012-08-21			ENSG00000203737	ENSG00000203737		"""GPCR / Class A : Orphans"""	4508	protein-coding gene	gene with protein product		604106				9931487	Standard	NM_005684		Approved		uc001gka.1	Q9Y2T5	OTTHUMG00000034901	ENST00000367685.2:c.104G>C	1.37:g.174417353G>C	ENSP00000356658:p.Ser35Thr					RABGAP1L_uc001gjw.2_Intron|RABGAP1L_uc001gjx.2_Intron|RABGAP1L_uc001gjy.2_Intron|RABGAP1L_uc001gjz.2_Intron	p.S35T	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN			1	142	+			35			Extracellular (Potential).		O75654|Q4VBL6|Q6ISM0	Missense_Mutation	SNP	ENST00000367685.2	37	c.104G>C	CCDS30941.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.561129	0.27915	.	.	ENSG00000203737	ENST00000367685	T	0.37058	1.22	5.68	4.67	0.58626	.	0.323877	0.28730	N	0.014324	T	0.18718	0.0449	N	0.14661	0.345	0.21473	N	0.999671	B	0.06786	0.001	B	0.09377	0.004	T	0.07868	-1.0750	10	0.24483	T	0.36	-3.7251	6.8198	0.23851	0.1965:0.0:0.8035:0.0	.	35	Q9Y2T5	GPR52_HUMAN	T	35	ENSP00000356658:S35T	ENSP00000356658:S35T	S	+	2	0	GPR52	172683976	1.000000	0.71417	0.898000	0.35279	0.985000	0.73830	3.655000	0.54460	2.680000	0.91292	0.655000	0.94253	AGT		0.463	GPR52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084511.1	NM_005684		10	57	0	0	0	0.006214	0	10	57				
BRINP3	339479	broad.mit.edu	37	1	190068056	190068056	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:190068056T>A	ENST00000367462.3	-	8	1624	c.1393A>T	c.(1393-1395)Acc>Tcc	p.T465S	BRINP3_ENST00000534846.1_Missense_Mutation_p.T363S	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	465					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)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.T465S(1)									ATGTAGCCGGTGTTGCAGGTG	0.607																																							uc001gse.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1393-1395)ACC>TCC		family with sequence similarity 5, member C							87.0	88.0	88.0					1																	190068056		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190068056T>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1393A>T	1.37:g.190068056T>A	ENSP00000356432:p.Thr465Ser					FAM5C_uc010pot.1_Missense_Mutation_p.T363S	p.T465S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1625	-	Prostate(682;0.198)		465					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1393A>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	9.538	1.112496	0.20795	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.40756	1.02;1.02	5.75	5.75	0.90469	Epidermal growth factor-like (1);	0.170852	0.52532	D	0.000070	T	0.32912	0.0845	L	0.29908	0.895	0.32389	N	0.553507	B;B	0.22276	0.027;0.067	B;B	0.21546	0.035;0.025	T	0.38478	-0.9659	10	0.32370	T	0.25	.	14.0112	0.64498	0.0:0.0:0.0:1.0	.	363;465	B7Z260;Q76B58	.;FAM5C_HUMAN	S	465;363	ENSP00000356432:T465S;ENSP00000438022:T363S	ENSP00000356432:T465S	T	-	1	0	FAM5C	188334679	1.000000	0.71417	0.990000	0.47175	0.817000	0.46193	1.110000	0.31147	2.190000	0.69967	0.482000	0.46254	ACC		0.607	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		9	124	0	0	0	0.008291	0	9	124				
FAIM3	9214	broad.mit.edu	37	1	207085276	207085276	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:207085276C>T	ENST00000367091.3	-	4	652	c.509G>A	c.(508-510)gGc>gAc	p.G170D	FAIM3_ENST00000442471.2_Missense_Mutation_p.G58D|FAIM3_ENST00000528654.1_Intron|FAIM3_ENST00000420007.2_Missense_Mutation_p.G170D	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	170					cellular defense response (GO:0006968)|immune system process (GO:0002376)|negative regulation of apoptotic process (GO:0043066)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.G170D(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					AGGGACCTTGCCCCTTTGAGC	0.542											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001hey.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(508-510)GGC>GAC		Fas apoptotic inhibitory molecule 3 isoform a							134.0	139.0	138.0					1																	207085276		2203	4300	6503	SO:0001583	missense	9214				anti-apoptosis|cellular defense response	integral to membrane		g.chr1:207085276C>T	AF057557	CCDS1473.1, CCDS44304.1	1q32.1	2013-01-11			ENSG00000162894	ENSG00000162894		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14315	protein-coding gene	gene with protein product		606015				9586636, 1563211	Standard	NM_005449		Approved	TOSO	uc001hey.3	O60667	OTTHUMG00000036457	ENST00000367091.3:c.509G>A	1.37:g.207085276C>T	ENSP00000356058:p.Gly170Asp		OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2164	FAIM3_uc010prz.1_Missense_Mutation_p.G58D|FAIM3_uc010psa.1_Missense_Mutation_p.G79D|FAIM3_uc010psb.1_Missense_Mutation_p.G170D	p.G170D	NM_005449	NP_005440	O60667	FAIM3_HUMAN			4	688	-	Breast(84;0.201)		170			Extracellular (Potential).		A8K7J2|B7Z6Z0|D9MWM3	Missense_Mutation	SNP	ENST00000367091.3	37	c.509G>A	CCDS1473.1	.	.	.	.	.	.	.	.	.	.	C	8.601	0.886802	0.17540	.	.	ENSG00000162894	ENST00000367091;ENST00000442471;ENST00000420007	T;T	0.23950	1.94;1.88	4.33	1.43	0.22495	.	0.527049	0.17429	N	0.174557	T	0.11067	0.0270	N	0.08118	0	0.09310	N	1	B;B;B	0.16166	0.016;0.004;0.0	B;B;B	0.15484	0.013;0.013;0.0	T	0.19844	-1.0293	10	0.54805	T	0.06	-1.1107	4.3838	0.11307	0.2083:0.1881:0.6037:0.0	.	79;58;170	B7Z497;B7Z6Z0;O60667	.;.;FAIM3_HUMAN	D	170;58;170	ENSP00000356058:G170D;ENSP00000403356:G170D	ENSP00000356058:G170D	G	-	2	0	FAIM3	205151899	0.004000	0.15560	0.000000	0.03702	0.000000	0.00434	1.118000	0.31246	0.119000	0.18210	-0.128000	0.14901	GGC		0.542	FAIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088677.1	NM_005449		3	51	0	0	0	0.009096	0	3	51				
PPP2R5A	5525	broad.mit.edu	37	1	212521742	212521742	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:212521742G>C	ENST00000261461.2	+	7	1350	c.776G>C	c.(775-777)gGc>gCc	p.G259A	PPP2R5A_ENST00000537030.3_Missense_Mutation_p.G202A	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	259					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)	p.G259A(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		ATTATCAATGGCTTTGCATTG	0.373																																							uc001hjb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(775-777)GGC>GCC		protein phosphatase 2, regulatory subunit B							92.0	91.0	91.0					1																	212521742		2202	4300	6502	SO:0001583	missense	5525				negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity	g.chr1:212521742G>C	BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9309	protein-coding gene	gene with protein product		601643	"""protein phosphatase 2, regulatory subunit B (B56), alpha isoform"", ""protein phosphatase 2, regulatory subunit B', alpha isoform"""			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.776G>C	1.37:g.212521742G>C	ENSP00000261461:p.Gly259Ala					PPP2R5A_uc010ptd.1_Missense_Mutation_p.G200A	p.G259A	NM_006243	NP_006234	Q15172	2A5A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)	7	1350	+			259					B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Missense_Mutation	SNP	ENST00000261461.2	37	c.776G>C	CCDS1503.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018389	0.93404	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.93	5.93	0.95920	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.90099	0.6907	H	0.95850	3.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92276	0.5829	9	0.87932	D	0	-8.9317	20.3363	0.98740	0.0:0.0:1.0:0.0	.	202;259	B7Z7L2;Q15172	.;2A5A_HUMAN	A	259;259;202	.	ENSP00000261461:G259A	G	+	2	0	PPP2R5A	210588365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.666000	0.98612	2.814000	0.96858	0.563000	0.77884	GGC		0.373	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		3	70	0	0	0	0.009096	0	3	70				
NLRP3	114548	broad.mit.edu	37	1	247588806	247588806	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:247588806G>C	ENST00000336119.3	+	3	2807	c.2061G>C	c.(2059-2061)atG>atC	p.M687I	NLRP3_ENST00000366497.2_Missense_Mutation_p.M687I|NLRP3_ENST00000391828.3_Missense_Mutation_p.M687I|NLRP3_ENST00000366496.2_Missense_Mutation_p.M687I|NLRP3_ENST00000391827.2_Missense_Mutation_p.M687I|NLRP3_ENST00000348069.2_Missense_Mutation_p.M687I|NLRP3_ENST00000474792.1_3'UTR	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	687					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.M687I(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCATAACATGCCCAAGGAGG	0.512																																							uc001icr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(2059-2061)ATG>ATC		NLR family, pyrin domain containing 3 isoform a							104.0	93.0	97.0					1																	247588806		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588806G>C	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2061G>C	1.37:g.247588806G>C	ENSP00000337383:p.Met687Ile					NLRP3_uc001ics.2_Missense_Mutation_p.M687I|NLRP3_uc001icu.2_Missense_Mutation_p.M687I|NLRP3_uc001icw.2_Missense_Mutation_p.M687I|NLRP3_uc001icv.2_Missense_Mutation_p.M687I|NLRP3_uc010pyw.1_Missense_Mutation_p.M685I|NLRP3_uc001ict.1_Missense_Mutation_p.M685I	p.M687I	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	2199	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	687					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.2061G>C	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	G	1.141	-0.649628	0.03506	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;T;D;T	0.87729	-2.29;-2.29;-2.29;0.91;-2.29;0.91	3.86	-7.72	0.01250	.	0.948785	0.08685	N	0.908807	T	0.61862	0.2381	N	0.02539	-0.55	0.09310	N	1	B;B;B;B;B	0.14438	0.001;0.003;0.01;0.001;0.002	B;B;B;B;B	0.15484	0.0;0.002;0.013;0.001;0.001	T	0.53514	-0.8428	10	0.34782	T	0.22	.	4.0705	0.09880	0.6014:0.1174:0.1629:0.1183	.	687;687;687;687;687	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	I	687	ENSP00000375704:M687I;ENSP00000355453:M687I;ENSP00000337383:M687I;ENSP00000294752:M687I;ENSP00000355452:M687I;ENSP00000375703:M687I	ENSP00000337383:M687I	M	+	3	0	NLRP3	245655429	0.000000	0.05858	0.001000	0.08648	0.469000	0.32828	-2.364000	0.01080	-1.897000	0.01101	-0.345000	0.07892	ATG		0.512	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		6	70	0	0	0	0.001168	0	6	70				
OR2M7	391196	broad.mit.edu	37	1	248487204	248487204	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:248487204G>C	ENST00000317965.2	-	1	695	c.667C>G	c.(667-669)Ctg>Gtg	p.L223V		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L223V(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	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)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGACAGCCAGAATAACTCGA	0.423																																							uc010pzk.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(667-669)CTG>GTG		olfactory receptor, family 2, subfamily M,							318.0	300.0	306.0					1																	248487204		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487204G>C	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.667C>G	1.37:g.248487204G>C	ENSP00000324557:p.Leu223Val						p.L223V	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	667	-	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)		223			Cytoplasmic (Potential).		B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.667C>G	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.101766	0.00360	.	.	ENSG00000177186	ENST00000317965	T	0.37752	1.18	1.55	-1.6	0.08426	GPCR, rhodopsin-like superfamily (1);	0.839162	0.09407	N	0.806388	T	0.17450	0.0419	N	0.20807	0.61	0.09310	N	1	B	0.14012	0.009	B	0.20384	0.029	T	0.27640	-1.0068	10	0.30078	T	0.28	.	0.0304	0.00005	0.2929:0.1775:0.2181:0.3115	.	223	Q8NG81	OR2M7_HUMAN	V	223	ENSP00000324557:L223V	ENSP00000324557:L223V	L	-	1	2	OR2M7	246553827	0.000000	0.05858	0.440000	0.26846	0.159000	0.22180	-4.771000	0.00188	-0.028000	0.13850	0.194000	0.17425	CTG		0.423	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		5	409	0	0	0	0.001168	0	5	409				
OR2T11	127077	broad.mit.edu	37	1	248790051	248790051	+	Silent	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr1:248790051G>A	ENST00000330803.2	-	1	440	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			GGGTATCTCAGAGGGTTACAG	0.547																																							uc001ier.1		NA																	0				lung(1)	1						c.(379-381)CTG>TTG		olfactory receptor, family 2, subfamily T,							53.0	60.0	58.0					1																	248790051		2050	4234	6284	SO:0001819	synonymous_variant	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248790051G>A	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.379C>T	1.37:g.248790051G>A							p.L127L	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	379	-	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)		127			Cytoplasmic (Potential).		Q6IEY6	Silent	SNP	ENST00000330803.2	37	c.379C>T	CCDS31122.1																																																																																				0.547	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		5	83	0	0	0	0.014758	0	5	83				
KAT6B	23522	broad.mit.edu	37	10	76788256	76788256	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr10:76788256A>G	ENST00000287239.4	+	18	4163	c.3674A>G	c.(3673-3675)aAt>aGt	p.N1225S	KAT6B_ENST00000372711.1_Missense_Mutation_p.N1042S|KAT6B_ENST00000372714.1_Missense_Mutation_p.N933S|KAT6B_ENST00000372725.1_Missense_Mutation_p.N933S|KAT6B_ENST00000372724.1_Missense_Mutation_p.N933S	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1225					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.N1225S(1)									GACAATATGAATGATGATTCA	0.373																																							uc001jwn.1		NA								T					CREBBP		AML		1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.(3673-3675)AAT>AGT		MYST histone acetyltransferase (monocytic							94.0	100.0	98.0					10																	76788256		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76788256A>G	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.3674A>G	10.37:g.76788256A>G	ENSP00000287239:p.Asn1225Ser					MYST4_uc001jwo.1_Missense_Mutation_p.N933S|MYST4_uc001jwp.1_Missense_Mutation_p.N1042S	p.N1225S	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			18	4167	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)		1225					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.3674A>G	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	A	11.00	1.509026	0.27036	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.75477	2.39;2.39;-0.94;2.39;-0.94	4.02	4.02	0.46733	.	0.546960	0.13700	N	0.368936	T	0.51991	0.1707	N	0.08118	0	0.24894	N	0.992144	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.13407	0.0;0.009;0.006	T	0.18681	-1.0329	10	0.07990	T	0.79	-2.97	12.498	0.55940	1.0:0.0:0.0:0.0	.	1042;933;1225	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	S	933;933;1225;933;1042	ENSP00000361810:N933S;ENSP00000361809:N933S;ENSP00000287239:N1225S;ENSP00000361799:N933S;ENSP00000361796:N1042S	ENSP00000287239:N1225S	N	+	2	0	KAT6B	76458262	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	3.460000	0.53028	2.038000	0.60285	0.402000	0.26972	AAT		0.373	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		7	122	0	0	0	0.006214	0	7	122				
KCNMA1	3778	broad.mit.edu	37	10	78674704	78674704	+	Silent	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr10:78674704G>A	ENST00000286628.8	-	24	3005	c.3006C>T	c.(3004-3006)atC>atT	p.I1002I	RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000286627.5_Silent_p.I944I|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404771.3_Silent_p.I1002I|KCNMA1_ENST00000372443.1_Silent_p.I944I|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000406533.3_Silent_p.I1006I|KCNMA1_ENST00000354353.5_Silent_p.I1005I|KCNMA1_ENST00000372440.1_Silent_p.I944I|KCNMA1_ENST00000404857.1_Silent_p.I985I	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1002					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.I1006I(1)|p.I944I(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CTAGTTCAGTGATGATGGGGA	0.473																																							uc001jxn.2		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(2)|ovary(1)	3						c.(3004-3006)ATC>ATT		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						286.0	260.0	269.0					10																	78674704		2203	4300	6503	SO:0001819	synonymous_variant	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78674704G>A	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3006C>T	10.37:g.78674704G>A						KCNMA1_uc001jxj.2_Silent_p.I948I|KCNMA1_uc001jxk.1_Silent_p.I620I|KCNMA1_uc009xrt.1_Silent_p.I793I|KCNMA1_uc001jxl.1_Silent_p.I627I|KCNMA1_uc001jxo.2_Silent_p.I985I|KCNMA1_uc001jxm.2_Silent_p.I944I|KCNMA1_uc001jxq.2_Silent_p.I947I	p.I1002I	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		24	3183	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1002			Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Silent	SNP	ENST00000286628.8	37	c.3006C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.829|9.829	1.187760|1.187760	0.21954|0.21954	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372421;ENST00000434208|ENST00000372403	.|.	.|.	.|.	6.11|6.11	3.27|3.27	0.37495|0.37495	.|.	.|.	.|.	.|.	.|.	T|T	0.47619|0.47619	0.1455|0.1455	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.37291|0.37291	-0.9712|-0.9712	4|4	.|.	.|.	.|.	.|.	4.1591|4.1591	0.10275|0.10275	0.3004:0.0:0.5096:0.19|0.3004:0.0:0.5096:0.19	.|.	.|.	.|.	.|.	Y|L	933;652|895	.|.	.|.	H|S	-|-	1|2	0|0	KCNMA1|KCNMA1	78344710|78344710	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	0.810000|0.810000	0.27183|0.27183	0.909000|0.909000	0.36697|0.36697	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.473	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		10	233	0	0	0	0.020292	0	10	233				
SORCS1	114815	broad.mit.edu	37	10	108366980	108366980	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr10:108366980G>T	ENST00000263054.6	-	23	3116	c.3109C>A	c.(3109-3111)Cta>Ata	p.L1037I	SORCS1_ENST00000344440.6_Missense_Mutation_p.L1037I|SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000369698.1_Missense_Mutation_p.L572I	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1037					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.L1037I(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGATAGGGTAGGACAAAGAGT	0.562																																							uc001kym.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(3109-3111)CTA>ATA		SORCS receptor 1 isoform a							93.0	88.0	90.0					10																	108366980		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108366980G>T	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.3109C>A	10.37:g.108366980G>T	ENSP00000263054:p.Leu1037Ile					SORCS1_uc001kyl.2_Missense_Mutation_p.L1037I|SORCS1_uc009xxs.2_Missense_Mutation_p.L1037I|SORCS1_uc001kyn.1_Missense_Mutation_p.L1037I|SORCS1_uc001kyo.2_Missense_Mutation_p.L1037I	p.L1037I	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	23	3117	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	1037			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.3109C>A	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.036559	0.54896	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.30448	1.53;2.07;2.02	5.92	-0.521	0.11931	.	0.086699	0.48286	D	0.000183	T	0.47581	0.1453	M	0.83483	2.645	0.36584	D	0.873713	P;D;P;P;P	0.54772	0.897;0.968;0.937;0.946;0.937	P;P;P;P;P	0.57425	0.515;0.82;0.709;0.77;0.709	T	0.56165	-0.8024	9	.	.	.	-13.6888	10.7252	0.46064	0.5822:0.0:0.4178:0.0	.	1037;1037;1037;1037;1037	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	I	572;1037;1037	ENSP00000358712:L572I;ENSP00000263054:L1037I;ENSP00000345964:L1037I	.	L	-	1	2	SORCS1	108356970	0.990000	0.36364	0.957000	0.39632	0.665000	0.39181	0.686000	0.25392	-0.331000	0.08501	-0.302000	0.09304	CTA		0.562	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		10	70	1	0	4.3838e-07	0.016723	5.24728e-07	10	70				
PNLIP	5406	broad.mit.edu	37	10	118306827	118306827	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr10:118306827G>A	ENST00000369221.2	+	3	96	c.68G>A	c.(67-69)aGa>aAa	p.R23K	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	23					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.R23K(4)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TGCTACGAAAGACTCGGCTGC	0.428																																							uc001lcm.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(67-69)AGA>AAA		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						93.0	91.0	92.0					10																	118306827		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118306827G>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.68G>A	10.37:g.118306827G>A	ENSP00000358223:p.Arg23Lys						p.R23K	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	3	111	+			23					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.68G>A	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	8.499	0.863798	0.17250	.	.	ENSG00000175535	ENST00000369221	D	0.90955	-2.76	5.12	4.2	0.49525	Lipase, N-terminal (1);	0.070786	0.56097	N	0.000024	D	0.82825	0.5121	L	0.33624	1.015	0.37642	D	0.922068	B	0.09022	0.002	B	0.10450	0.005	T	0.75706	-0.3224	10	0.07325	T	0.83	.	11.7563	0.51878	0.0877:0.0:0.9123:0.0	.	23	P16233	LIPP_HUMAN	K	23	ENSP00000358223:R23K	ENSP00000358223:R23K	R	+	2	0	PNLIP	118296817	0.699000	0.27786	0.778000	0.31720	0.447000	0.32167	3.232000	0.51302	1.369000	0.46134	0.591000	0.81541	AGA		0.428	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		7	82	0	0	0	0.00308	0	7	82				
BAG3	9531	broad.mit.edu	37	10	121431869	121431869	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr10:121431869G>T	ENST00000369085.3	+	3	916	c.610G>T	c.(610-612)Ggg>Tgg	p.G204W		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	204					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)		p.G204W(1)		endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GCTCCCGCGGGGGTACATCTC	0.647																																							uc001lem.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(610-612)GGG>TGG		BCL2-associated athanogene 3							62.0	61.0	62.0					10																	121431869		2203	4300	6503	SO:0001583	missense	9531				anti-apoptosis|apoptosis|protein folding	cytosol		g.chr10:121431869G>T	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.610G>T	10.37:g.121431869G>T	ENSP00000358081:p.Gly204Trp					BAG3_uc001lel.2_Missense_Mutation_p.G204W	p.G204W	NM_004281	NP_004272	O95817	BAG3_HUMAN		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)	3	916	+		Lung NSC(174;0.109)|all_lung(145;0.142)	204					A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	c.610G>T	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.922924	0.92319	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	D;D	0.92545	-3.06;-2.8	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.96100	0.8729	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95565	0.8633	10	0.87932	D	0	-22.8757	20.8794	0.99867	0.0:0.0:1.0:0.0	.	204;204	O95817;Q53GY1	BAG3_HUMAN;.	W	204;146	ENSP00000358081:G204W;ENSP00000410036:G146W	ENSP00000358081:G204W	G	+	1	0	BAG3	121421859	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.604000	0.82830	2.941000	0.99782	0.655000	0.94253	GGG		0.647	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050662.1	NM_004281		13	68	1	0	4.36969e-10	0.016723	5.39384e-10	13	68				
DPYSL4	10570	broad.mit.edu	37	10	134006229	134006229	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr10:134006229C>G	ENST00000338492.4	+	3	360	c.196C>G	c.(196-198)Ctt>Gtt	p.L66V	DPYSL4_ENST00000368627.1_5'Flank|DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368629.1_5'UTR	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	66					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.L66V(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CCTGATGGTCCTTCCTGGTGG	0.582																																							uc009ybb.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(196-198)CTT>GTT		dihydropyrimidinase-like 4							117.0	93.0	101.0					10																	134006229		2203	4300	6503	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134006229C>G	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.196C>G	10.37:g.134006229C>G	ENSP00000339850:p.Leu66Val						p.L66V	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	3	350	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	66					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.196C>G	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333612	0.24167	.	.	ENSG00000151640	ENST00000338492	D	0.91124	-2.79	4.92	3.04	0.35103	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.234661	0.35067	N	0.003466	D	0.83170	0.5196	L	0.36672	1.1	0.80722	D	1	B	0.17268	0.021	B	0.20577	0.03	T	0.75941	-0.3140	10	0.62326	D	0.03	-16.0134	3.9403	0.09325	0.4542:0.344:0.1225:0.0793	.	66	O14531	DPYL4_HUMAN	V	66	ENSP00000339850:L66V	ENSP00000339850:L66V	L	+	1	0	DPYSL4	133856219	0.681000	0.27614	0.894000	0.35097	0.199000	0.23934	1.347000	0.33975	0.654000	0.30846	0.650000	0.86243	CTT		0.582	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			3	64	0	0	0	0.004672	0	3	64				
ADAM8	101	broad.mit.edu	37	10	135084565	135084565	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr10:135084565C>A	ENST00000445355.3	-	14	1434	c.1384G>T	c.(1384-1386)Gct>Tct	p.A462S	ADAM8_ENST00000415217.3_Missense_Mutation_p.A462S|ADAM8_ENST00000559180.1_5'Flank|ADAM8_ENST00000485491.2_Missense_Mutation_p.A423S	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	462	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)	p.A462S(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		AGCTCACCAGCCGGCTTCACC	0.657																																							uc010qva.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|central_nervous_system(1)	3						c.(1267-1269)GCT>TCT		SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);							39.0	43.0	41.0					10																	135084565		2199	4296	6495	SO:0001583	missense	101				integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	g.chr10:135084565C>A	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.1384G>T	10.37:g.135084565C>A	ENSP00000453302:p.Ala462Ser					ADAM8_uc010quz.1_Missense_Mutation_p.A462S|ADAM8_uc009ybi.2_Missense_Mutation_p.A462S	p.A423S			P78325	ADAM8_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	13	1318	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	423					B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	ENST00000445355.3	37	c.1267G>T	CCDS31319.2																																																																																				0.657	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		7	33	1	0	8.12818e-05	0.001984	9.23923e-05	7	33				
RAG1	5896	broad.mit.edu	37	11	36597424	36597424	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr11:36597424C>T	ENST00000299440.5	+	2	2682	c.2570C>T	c.(2569-2571)gCc>gTc	p.A857V		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	857					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A857V(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGCAACTTTGCCAGGAAGCTC	0.498									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(2569-2571)GCC>GTC		recombination activating gene 1							97.0	94.0	95.0					11																	36597424		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597424C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2570C>T	11.37:g.36597424C>T	ENSP00000299440:p.Ala857Val					RAG1_uc001mwt.2_RNA	p.A857V	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	2694	+	all_lung(20;0.226)	all_hematologic(20;0.107)	857					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2570C>T	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545879	0.86022	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.91068	-2.78;-2.78	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.97099	0.9052	H	0.95504	3.68	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.97459	1.0033	10	0.87932	D	0	.	20.4384	0.99098	0.0:1.0:0.0:0.0	.	857	P15918	RAG1_HUMAN	V	857	ENSP00000434610:A857V;ENSP00000299440:A857V	ENSP00000299440:A857V	A	+	2	0	RAG1	36554000	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.831000	0.97527	0.644000	0.83932	GCC		0.498	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		4	84	0	0	0	0.009096	0	4	84				
CD5	921	broad.mit.edu	37	11	60885646	60885646	+	Splice_Site	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr11:60885646G>C	ENST00000347785.3	+	3	260		c.e3-1			NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule						apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.?(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CTGACCCCCAGATTTCCAGGC	0.637																																							uc009ynk.2		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e3-1		CD5 molecule precursor							81.0	86.0	84.0					11																	60885646		2203	4299	6502	SO:0001630	splice_region_variant	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60885646G>C	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.95-1G>C	11.37:g.60885646G>C							p.D32_splice	NM_014207	NP_055022	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	3	198	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)						A0N0P4|A8K9I3	Splice_Site	SNP	ENST00000347785.3	37	c.95_splice	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717820	0.30413	.	.	ENSG00000110448	ENST00000347785;ENST00000544014	.	.	.	3.8	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4784	0.50312	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD5	60642222	0.994000	0.37717	0.220000	0.23810	0.157000	0.22087	4.078000	0.57606	2.424000	0.82194	0.561000	0.74099	.		0.637	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207	Intron	5	94	0	0	0	0.001168	0	5	94				
PLCB3	5331	broad.mit.edu	37	11	64021894	64021894	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr11:64021894C>T	ENST00000540288.1	+	2	210	c.107C>T	c.(106-108)tCc>tTc	p.S36F	PLCB3_ENST00000325234.5_Intron|PLCB3_ENST00000279230.6_Missense_Mutation_p.S36F	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	36					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.S36F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CAGGAGACCTCCAGTCGGAAC	0.652																																							uc001nzb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(106-108)TCC>TTC		phospholipase C beta 3							181.0	167.0	172.0					11																	64021894		2201	4297	6498	SO:0001583	missense	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64021894C>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.107C>T	11.37:g.64021894C>T	ENSP00000443631:p.Ser36Phe					PLCB3_uc009ypg.1_Missense_Mutation_p.S36F|PLCB3_uc009yph.1_Intron|PLCB3_uc009ypi.2_Missense_Mutation_p.S36F	p.S36F	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			2	107	+			36					A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	ENST00000540288.1	37	c.107C>T	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	c	18.02	3.530996	0.64972	.	.	ENSG00000149782	ENST00000279230;ENST00000540288	T;T	0.45276	0.9;0.9	4.22	4.22	0.49857	.	4.297590	0.00604	N	0.000399	T	0.45935	0.1367	L	0.40543	1.245	0.80722	D	1	D	0.53885	0.963	P	0.44921	0.464	T	0.40869	-0.9540	10	0.44086	T	0.13	.	13.9173	0.63908	0.0:1.0:0.0:0.0	.	36	Q01970	PLCB3_HUMAN	F	36	ENSP00000279230:S36F;ENSP00000443631:S36F	ENSP00000279230:S36F	S	+	2	0	PLCB3	63778470	0.995000	0.38212	1.000000	0.80357	0.982000	0.71751	3.179000	0.50887	2.057000	0.61298	0.550000	0.68814	TCC		0.652	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			14	157	0	0	0	0.00499	0	14	157				
CDC42BPG	55561	broad.mit.edu	37	11	64603314	64603314	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr11:64603314G>C	ENST00000342711.5	-	14	1677	c.1678C>G	c.(1678-1680)Cag>Gag	p.Q560E		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)									p.Q560E(1)		central_nervous_system(1)|lung(3)	4						GAGGACACCTGGGCCTCCAGC	0.657																																							uc001obs.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(1)	4						c.(1678-1680)CAG>GAG		CDC42 binding protein kinase gamma (DMPK-like)							37.0	33.0	35.0					11																	64603314		2201	4296	6497	SO:0001583	missense	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64603314G>C	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.1678C>G	11.37:g.64603314G>C	ENSP00000345133:p.Gln560Glu						p.Q560E	NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN			14	1678	-			560			Potential.			Missense_Mutation	SNP	ENST00000342711.5	37	c.1678C>G	CCDS31601.1	.	.	.	.	.	.	.	.	.	.	G	7.531	0.658712	0.14645	.	.	ENSG00000171219	ENST00000342711	T	0.20881	2.04	4.51	3.45	0.39498	.	0.288240	0.24810	N	0.035416	T	0.31199	0.0789	L	0.43152	1.355	0.27046	N	0.963888	D	0.54964	0.969	D	0.64877	0.93	T	0.02104	-1.1213	10	0.40728	T	0.16	.	8.5664	0.33543	0.0:0.0:0.7108:0.2892	.	560	Q6DT37	MRCKG_HUMAN	E	560	ENSP00000345133:Q560E	ENSP00000345133:Q560E	Q	-	1	0	CDC42BPG	64359890	0.863000	0.29885	0.956000	0.39512	0.300000	0.27592	0.657000	0.24963	2.227000	0.72691	0.455000	0.32223	CAG		0.657	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		4	7	0	0	0	0.014758	0	4	7				
TENM4	26011	broad.mit.edu	37	11	78413335	78413335	+	Silent	SNP	G	G	T	rs368465950		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr11:78413335G>T	ENST00000278550.7	-	28	4785	c.4323C>A	c.(4321-4323)gtC>gtA	p.V1441V		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1441					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.V1441V(2)									GCCTCCCGGCGACAATGCGCA	0.567																																							uc001ozl.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(2)	4						c.(4321-4323)GTC>GTA		odz, odd Oz/ten-m homolog 4							80.0	78.0	79.0					11																	78413335		2042	4191	6233	SO:0001819	synonymous_variant	26011				signal transduction	integral to membrane		g.chr11:78413335G>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.4323C>A	11.37:g.78413335G>T						ODZ4_uc009yvb.1_Silent_p.V25V	p.V1441V	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			28	4786	-			1441			Extracellular (Potential).|NHL 4.		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.4323C>A	CCDS44688.1																																																																																				0.567	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			11	90	1	0	4.68919e-08	0.008291	5.69917e-08	11	90				
NAALAD2	10003	broad.mit.edu	37	11	89883707	89883707	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr11:89883707G>C	ENST00000534061.1	+	5	771	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	NAALAD2_ENST00000375944.3_Missense_Mutation_p.E181Q|NAALAD2_ENST00000525171.1_Missense_Mutation_p.E181Q|NAALAD2_ENST00000321955.4_Missense_Mutation_p.E181Q	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	181					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.E181Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACTAGAAAGAGAGATGGGCAT	0.318																																							uc001pdf.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(541-543)GAG>CAG		N-acetylated alpha-linked acidic dipeptidase 2							85.0	93.0	91.0					11																	89883707		2201	4299	6500	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89883707G>C	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.541G>C	11.37:g.89883707G>C	ENSP00000432481:p.Glu181Gln					NAALAD2_uc009yvx.2_Missense_Mutation_p.E181Q|NAALAD2_uc009yvy.2_Missense_Mutation_p.E181Q|NAALAD2_uc001pdd.2_Missense_Mutation_p.E181Q|NAALAD2_uc001pde.2_Missense_Mutation_p.E181Q	p.E181Q	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			5	650	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	181			Extracellular (Potential).		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.541G>C	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040760	0.35989	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	5.13	5.13	0.70059	Protease-associated domain, PA (1);	0.425905	0.23789	N	0.044545	T	0.06600	0.0169	L	0.35288	1.05	0.43942	D	0.996608	B;B;B;B;B	0.19445	0.012;0.0;0.002;0.036;0.001	B;B;B;B;B	0.15870	0.007;0.007;0.006;0.014;0.007	T	0.34179	-0.9839	9	.	.	.	-9.1998	8.7188	0.34428	0.0795:0.1529:0.7676:0.0	.	181;181;181;181;181	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	Q	181	ENSP00000432481:E181Q;ENSP00000320083:E181Q;ENSP00000435249:E181Q;ENSP00000365111:E181Q	.	E	+	1	0	NAALAD2	89523355	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.312000	0.72840	2.410000	0.81850	0.586000	0.80456	GAG		0.318	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		4	72	0	0	0	0.014758	0	4	72				
C11orf1	64776	broad.mit.edu	37	11	111750308	111750308	+	Silent	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr11:111750308C>T	ENST00000260276.3	+	1	361	c.24C>T	c.(22-24)tgC>tgT	p.C8C	ALG9_ENST00000527377.1_5'Flank|C11orf1_ENST00000528125.1_Intron|FDXACB1_ENST00000260257.4_5'Flank|C11orf1_ENST00000529270.1_5'Flank|ALG9_ENST00000524880.1_5'Flank|FDXACB1_ENST00000542429.1_5'Flank|C11orf1_ENST00000530214.1_Silent_p.C8C	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	8						nucleus (GO:0005634)		p.C8C(1)		kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		AGTGTCTCTGCTGCTCAAAAT	0.488																																							uc001pmd.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(22-24)TGC>TGT		hypothetical protein LOC64776							199.0	201.0	201.0					11																	111750308		2201	4297	6498	SO:0001819	synonymous_variant	64776					nucleus		g.chr11:111750308C>T	AJ250229	CCDS8350.1	11q23.1	2012-05-30			ENSG00000137720	ENSG00000137720			1163	protein-coding gene	gene with protein product						10873569	Standard	NM_022761		Approved	FLJ23499	uc001pmd.3	Q9H5F2	OTTHUMG00000166884	ENST00000260276.3:c.24C>T	11.37:g.111750308C>T						ALG9_uc010rwo.1_5'Flank|FDXACB1_uc009yyi.2_5'Flank|FDXACB1_uc001pmc.3_5'Flank|C11orf1_uc001pme.2_5'Flank	p.C8C	NM_022761	NP_073598	Q9H5F2	CK001_HUMAN		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)	1	361	+		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)	8					Q6I9X7|Q9NQC6	Silent	SNP	ENST00000260276.3	37	c.24C>T	CCDS8350.1																																																																																				0.488	C11orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391650.1	NM_022761		47	348	0	0	0	0.01441	0	47	348				
C2CD2L	9854	broad.mit.edu	37	11	118984675	118984675	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr11:118984675C>T	ENST00000528586.1	+	8	914	c.844C>T	c.(844-846)Ctc>Ttc	p.L282F	C2CD2L_ENST00000336702.3_Missense_Mutation_p.L535F			O14523	C2C2L_HUMAN	C2CD2-like	534						integral component of membrane (GO:0016021)		p.L535F(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GCGCAGCACTCTCATCATCTC	0.587																																							uc001pvo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1600-1602)CTC>TTC		transmembrane protein 24							61.0	61.0	61.0					11																	118984675		2200	4295	6495	SO:0001583	missense	9854					integral to membrane		g.chr11:118984675C>T	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.844C>T	11.37:g.118984675C>T	ENSP00000433600:p.Leu282Phe					C2CD2L_uc001pvn.2_Missense_Mutation_p.L535F	p.L534F	NM_014807	NP_055622	O14523	C2C2L_HUMAN			12	1959	+			534					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000528586.1	37	c.1600C>T		.	.	.	.	.	.	.	.	.	.	C	27.0	4.789646	0.90367	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.79141	-1.24;-1.24	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.85974	0.5822	L	0.55990	1.75	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86406	0.1745	10	0.62326	D	0.03	-17.1088	18.0195	0.89251	0.0:1.0:0.0:0.0	.	534;535	O14523;O14523-2	C2C2L_HUMAN;.	F	535;282	ENSP00000338885:L535F;ENSP00000433600:L282F	ENSP00000338885:L535F	L	+	1	0	C2CD2L	118489885	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.371000	0.59523	2.722000	0.93159	0.655000	0.94253	CTC		0.587	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		3	47	0	0	0	0.004672	0	3	47				
A2ML1	144568	broad.mit.edu	37	12	9013866	9013866	+	Missense_Mutation	SNP	C	C	A	rs199604768		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr12:9013866C>A	ENST00000299698.7	+	28	3655	c.3475C>A	c.(3475-3477)Cag>Aag	p.Q1159K	A2ML1_ENST00000539547.1_Missense_Mutation_p.Q668K	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1									p.Q1159K(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCTCCTTAAACAGTTAGATCA	0.438																																							uc001quz.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3475-3477)CAG>AAG		alpha-2-macroglobulin-like 1 precursor							152.0	147.0	148.0					12																	9013866		1907	4120	6027	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9013866C>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3475C>A	12.37:g.9013866C>A	ENSP00000299698:p.Gln1159Lys					A2ML1_uc001qva.1_Missense_Mutation_p.Q739K|A2ML1_uc010sgm.1_Missense_Mutation_p.Q659K	p.Q1159K	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			28	3573	+			1003						Missense_Mutation	SNP	ENST00000299698.7	37	c.3475C>A	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.999402	0.00044	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547	T;T;T	0.29917	1.55;1.55;1.55	3.76	0.0999	0.14510	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.536654	0.16974	N	0.191969	T	0.04770	0.0129	N	0.00154	-1.97	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42275	-0.9461	10	0.02654	T	1	.	6.3952	0.21609	0.5532:0.3528:0.0941:0.0	.	1159	A8K2U0	A2ML1_HUMAN	K	1159;1159;709;668	ENSP00000299698:Q1159K;ENSP00000443174:Q709K;ENSP00000438292:Q668K	ENSP00000299698:Q1159K	Q	+	1	0	A2ML1	8905133	0.000000	0.05858	0.035000	0.18076	0.047000	0.14425	0.773000	0.26661	0.154000	0.19237	-0.457000	0.05445	CAG		0.438	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		14	129	1	0	1.52009e-12	0.003163	1.90615e-12	14	129				
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	IGR	SNP	G	G	C	rs199863259		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr12:13028751G>C								DDX47 (45836 upstream) : GPRC5A (14964 downstream)																							GGTGTTTGACGGCATCCCACC	0.612																																							uc010sho.1		NA																	0					0						c.(319-321)GGC>CGC		SubName: Full=Ribosomal protein L13a variant; Flags: Fragment;																																				SO:0001628	intergenic_variant	387841							g.chr12:13028751G>C																													12.37:g.13028751G>C							p.G107R	NR_003932						1	341	+									Missense_Mutation	SNP		37	c.319G>C																																																																																				0	0.612									3	21	0	0	0	0.004672	0	3	21				
KRT3	3850	broad.mit.edu	37	12	53185017	53185017	+	Missense_Mutation	SNP	C	C	T	rs60410063		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr12:53185017C>T	ENST00000417996.2	-	7	1582	c.1508G>A	c.(1507-1509)cGc>cAc	p.R503H	KRT3_ENST00000309505.3_Missense_Mutation_p.R503H	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	503	Coil 2.|Rod.		R -> P (in MECD; dbSNP:rs60410063). {ECO:0000269|PubMed:16227835}.		epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.R503H(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CAGCAGCTTGCGGTAGGTGGC	0.607																																							uc001say.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0	GRCh37	CM056626	KRT3	M	rs60410063	c.(1507-1509)CGC>CAC		keratin 3							97.0	92.0	94.0					12																	53185017		2203	4300	6503	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53185017C>T		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1508G>A	12.37:g.53185017C>T	ENSP00000413479:p.Arg503His						p.R503H	NM_057088	NP_476429	P12035	K2C3_HUMAN			7	1574	-			503			Rod.|Coil 2.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.1508G>A	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	C	35	5.418221	0.96092	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.94687	-3.49;-3.49	4.71	4.71	0.59529	Filament (1);Intermediate filament protein, conserved site (1);	0.000000	0.35124	N	0.003430	D	0.98239	0.9417	H	0.96430	3.82	0.42229	D	0.991888	D	0.89917	1.0	D	0.87578	0.998	D	0.99758	1.1020	10	0.87932	D	0	.	18.2151	0.89882	0.0:1.0:0.0:0.0	.	503	P12035	K2C3_HUMAN	H	503	ENSP00000413479:R503H;ENSP00000312206:R503H	ENSP00000312206:R503H	R	-	2	0	KRT3	51471284	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	3.929000	0.56514	2.619000	0.88677	0.561000	0.74099	CGC		0.607	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		4	118	0	0	0	0.014758	0	4	118				
PDE1B	5153	broad.mit.edu	37	12	54968993	54968993	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr12:54968993C>G	ENST00000243052.3	+	11	1612	c.1176C>G	c.(1174-1176)ttC>ttG	p.F392L	PDE1B_ENST00000550620.1_Missense_Mutation_p.F372L|PDE1B_ENST00000538346.1_Missense_Mutation_p.F351L|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	392	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.F392L(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TGGAGGAATTCTTCCGTCAGG	0.577																																							uc001sgd.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1174-1176)TTC>TTG		phosphodiesterase 1B isoform 1							156.0	130.0	139.0					12																	54968993		2203	4300	6503	SO:0001583	missense	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54968993C>G	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1176C>G	12.37:g.54968993C>G	ENSP00000243052:p.Phe392Leu					PDE1B_uc010soz.1_Missense_Mutation_p.F255L|PDE1B_uc010spa.1_Missense_Mutation_p.F351L|PDE1B_uc001sgf.2_Missense_Mutation_p.F255L|PDE1B_uc001sge.2_Missense_Mutation_p.F372L|PDE1B_uc009znq.2_Missense_Mutation_p.F188L	p.F392L	NM_000924	NP_000915	Q01064	PDE1B_HUMAN			11	1342	+			392			Catalytic (By similarity).		Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.1176C>G	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977040	0.74360	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	D;D;D	0.90133	-2.62;-2.62;-2.62	5.25	4.36	0.52297	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.060554	0.64402	D	0.000003	D	0.95468	0.8528	M	0.93808	3.46	0.54753	D	0.999989	D;D	0.60160	0.987;0.971	P;D	0.64877	0.885;0.93	D	0.95244	0.8354	10	0.87932	D	0	.	8.3789	0.32459	0.0:0.8214:0.0:0.1786	.	372;392	Q01064-2;Q01064	.;PDE1B_HUMAN	L	392;351;372	ENSP00000243052:F392L;ENSP00000442559:F351L;ENSP00000448519:F372L	ENSP00000243052:F392L	F	+	3	2	PDE1B	53255260	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.998000	0.40796	1.351000	0.45789	0.561000	0.74099	TTC		0.577	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			3	102	0	0	0	0.009096	0	3	102				
SRGAP1	57522	broad.mit.edu	37	12	64472704	64472704	+	Silent	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr12:64472704G>A	ENST00000355086.3	+	9	1655	c.1131G>A	c.(1129-1131)aaG>aaA	p.K377K	SRGAP1_ENST00000357825.3_Silent_p.K377K|SRGAP1_ENST00000543397.1_Silent_p.K337K|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	377	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.K377K(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CCCAGGTTAAGAAAACGACTG	0.438																																							uc010ssp.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1129-1131)AAG>AAA		SLIT-ROBO Rho GTPase activating protein 1							84.0	68.0	73.0					12																	64472704		2203	4300	6503	SO:0001819	synonymous_variant	57522				axon guidance	cytosol		g.chr12:64472704G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1131G>A	12.37:g.64472704G>A						SRGAP1_uc001srt.2_Silent_p.K377K|SRGAP1_uc001srv.2_Silent_p.K337K	p.K377K	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	9	1187	+			377			Potential.		Q9H8A3|Q9P2P2	Silent	SNP	ENST00000355086.3	37	c.1131G>A	CCDS8967.1																																																																																				0.438	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			3	44	0	0	0	0.004672	0	3	44				
WIF1	11197	broad.mit.edu	37	12	65445189	65445189	+	Silent	SNP	C	C	T	rs148339341	byFrequency	TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr12:65445189C>T	ENST00000286574.4	-	10	1454	c.1080G>A	c.(1078-1080)acG>acA	p.T360T		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	360					multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.T360T(2)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TAAGTGAAGGCGTGTGCTGCC	0.493			T	HMGA2	pleomorphic salivary gland adenoma								C|||	4	0.000798722	0.0	0.0	5008	,	,		16843	0.002		0.001	False		,,,				2504	0.001				Esophageal Squamous(148;1595 1816 48559 49439 49664)	Esophageal Squamous(148;1595 1816 48559 49439 49664)	uc001ssk.2		NA		Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(1)|skin(1)	4						c.(1078-1080)ACG>ACA		WNT inhibitory factor 1 precursor		C		0,4406		0,0,2203	62.0	62.0	62.0		1080	2.6	1.0	12	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WIF1	NM_007191.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		360/380	65445189	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65445189C>T	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.1080G>A	12.37:g.65445189C>T							p.T360T	NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	10	1225	-			360					Q6UXI1|Q8WVG4	Silent	SNP	ENST00000286574.4	37	c.1080G>A	CCDS8971.1																																																																																				0.493	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			10	52	0	0	0	0.008291	0	10	52				
UHRF1BP1L	23074	broad.mit.edu	37	12	100453666	100453666	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr12:100453666C>A	ENST00000279907.7	-	13	1917	c.1705G>T	c.(1705-1707)Gag>Tag	p.E569*	UHRF1BP1L_ENST00000545232.2_Nonsense_Mutation_p.E219*	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	569								p.E569*(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TCAACATGCTCGTCAGATTTT	0.308																																							uc001tgq.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(1705-1707)GAG>TAG		UHRF1 (ICBP90) binding protein 1-like isoform a							147.0	135.0	139.0					12																	100453666		2203	4300	6503	SO:0001587	stop_gained	23074							g.chr12:100453666C>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1705G>T	12.37:g.100453666C>A	ENSP00000279907:p.Glu569*					UHRF1BP1L_uc001tgp.2_Nonsense_Mutation_p.E219*	p.E569*	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			13	1934	-			569					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Nonsense_Mutation	SNP	ENST00000279907.7	37	c.1705G>T	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	38	6.814760	0.97857	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-12.8751	19.3631	0.94448	0.0:1.0:0.0:0.0	.	.	.	.	X	569;219	.	ENSP00000279907:E569X	E	-	1	0	UHRF1BP1L	98977797	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.587000	0.87381	0.585000	0.79938	GAG		0.308	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		4	63	1	0	1.23904e-05	0.014758	1.45014e-05	4	63				
ANAPC7	51434	broad.mit.edu	37	12	110813919	110813919	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr12:110813919G>A	ENST00000455511.3	-	10	1562	c.1562C>T	c.(1561-1563)gCt>gTt	p.A521V	ANAPC7_ENST00000450008.2_Missense_Mutation_p.A521V|ANAPC7_ENST00000481473.1_5'UTR	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	521					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)	p.A487V(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CTCATTGACAGCTACAAGGAA	0.493																																							uc001tqo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1561-1563)GCT>GTT		anaphase-promoting complex subunit 7 isoform a							141.0	118.0	126.0					12																	110813919		2203	4300	6503	SO:0001583	missense	51434				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding	g.chr12:110813919G>A	AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.1562C>T	12.37:g.110813919G>A	ENSP00000394394:p.Ala521Val					ANAPC7_uc001tqp.3_Missense_Mutation_p.A521V	p.A521V	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN			10	1563	-			521			TPR 7.		Q96AC4|Q96GF4|Q9BU24|Q9NT16	Missense_Mutation	SNP	ENST00000455511.3	37	c.1562C>T	CCDS9145.2	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837546	0.71373	.	.	ENSG00000196510	ENST00000455511;ENST00000481473;ENST00000486321;ENST00000450008	T;T	0.78707	-1.2;0.51	5.55	5.55	0.83447	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.047110	0.85682	D	0.000000	D	0.83036	0.5167	L	0.38838	1.175	0.80722	D	1	D;B	0.67145	0.996;0.001	D;B	0.70935	0.971;0.003	T	0.80086	-0.1529	10	0.29301	T	0.29	-5.96	19.4921	0.95054	0.0:0.0:1.0:0.0	.	521;521	Q9UJX3-2;Q9UJX3	.;APC7_HUMAN	V	521;95;119;521	ENSP00000394394:A521V;ENSP00000402314:A521V	ENSP00000402314:A521V	A	-	2	0	ANAPC7	109298302	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.624000	0.88883	0.561000	0.74099	GCT		0.493	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238		3	68	0	0	0	0.004672	0	3	68				
RNF6	6049	broad.mit.edu	37	13	26789520	26789520	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr13:26789520C>G	ENST00000381588.4	-	5	1251	c.499G>C	c.(499-501)Gaa>Caa	p.E167Q	RNF6_ENST00000381570.3_Missense_Mutation_p.E167Q|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.E167Q|RNF6_ENST00000399762.2_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	167					negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E167Q(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GTATAATCTTCTCCATGAATT	0.403																																							uc001uqo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(499-501)GAA>CAA		ring finger protein 6							166.0	167.0	167.0					13																	26789520		2203	4300	6503	SO:0001583	missense	6049				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr13:26789520C>G	AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.499G>C	13.37:g.26789520C>G	ENSP00000371000:p.Glu167Gln					RNF6_uc001uqn.1_Intron|RNF6_uc010aak.2_Missense_Mutation_p.E167Q|RNF6_uc001uqp.2_Missense_Mutation_p.E167Q|RNF6_uc001uqq.2_Missense_Mutation_p.E167Q|RNF6_uc010tdk.1_Intron	p.E167Q	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)	5	790	-	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	167					B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Missense_Mutation	SNP	ENST00000381588.4	37	c.499G>C	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562093	0.45590	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570	T;T;T	0.13089	2.62;2.62;2.62	4.49	3.64	0.41730	.	0.476457	0.20840	N	0.084734	T	0.15435	0.0372	L	0.59436	1.845	0.80722	D	1	B	0.33694	0.421	B	0.33042	0.157	T	0.03060	-1.1077	10	0.72032	D	0.01	-3.3571	10.6551	0.45669	0.0:0.9109:0.0:0.0891	.	167	Q9Y252	RNF6_HUMAN	Q	167	ENSP00000342121:E167Q;ENSP00000371000:E167Q;ENSP00000370982:E167Q	ENSP00000342121:E167Q	E	-	1	0	RNF6	25687520	0.990000	0.36364	0.983000	0.44433	0.984000	0.73092	3.916000	0.56416	1.112000	0.41740	0.557000	0.71058	GAA		0.403	RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977		14	110	0	0	0	0.016723	0	14	110				
MYO16	23026	broad.mit.edu	37	13	109707855	109707855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr13:109707855C>T	ENST00000357550.2	+	26	3222	c.3181C>T	c.(3181-3183)Cag>Tag	p.Q1061*	MYO16_ENST00000457511.2_Nonsense_Mutation_p.Q573*|MYO16_ENST00000356711.2_Nonsense_Mutation_p.Q1061*	NM_001198950.1	NP_001185879.1			myosin XVI									p.Q1061*(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CGTGTCTGCTCAGCTACAATA	0.418																																							uc001vqt.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10						c.(3181-3183)CAG>TAG		myosin heavy chain Myr 8							162.0	160.0	161.0					13																	109707855		2203	4299	6502	SO:0001587	stop_gained	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109707855C>T		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3181C>T	13.37:g.109707855C>T	ENSP00000350160:p.Gln1061*					MYO16_uc010agk.1_Nonsense_Mutation_p.Q1083*|MYO16_uc001vqu.1_Nonsense_Mutation_p.Q861*|MYO16_uc010tjh.1_Nonsense_Mutation_p.Q573*	p.Q1061*	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		27	3307	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1061			Myosin head-like 2.			Nonsense_Mutation	SNP	ENST00000357550.2	37	c.3181C>T	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	40	8.239660	0.98722	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000375857;ENST00000457511	.	.	.	5.21	5.21	0.72293	.	0.000000	0.38720	U	0.001588	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7758	0.88506	0.0:1.0:0.0:0.0	.	.	.	.	X	1061;1061;849;573	.	.	Q	+	1	0	MYO16	108505856	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	6.792000	0.75125	2.424000	0.82194	0.561000	0.74099	CAG		0.418	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		8	121	0	0	0	0.006214	0	8	121				
MTHFD1	4522	broad.mit.edu	37	14	64911421	64911421	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr14:64911421G>A	ENST00000545908.1	+	22	2544	c.2315G>A	c.(2314-2316)gGa>gAa	p.G772E	CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000216605.8_Missense_Mutation_p.G716E|CTD-2555O16.4_ENST00000609125.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	716	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)	p.G716E(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GTCACTGCTGGACTGCCTCTT	0.443																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	uc001xhb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2146-2148)GGA>GAA		methylenetetrahydrofolate dehydrogenase 1	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						164.0	143.0	150.0					14																	64911421		2203	4300	6503	SO:0001583	missense	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding	g.chr14:64911421G>A	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.2315G>A	14.37:g.64911421G>A	ENSP00000438588:p.Gly772Glu					MTHFD1_uc010aqf.2_Missense_Mutation_p.G772E	p.G716E	NM_005956	NP_005947	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	22	2534	+			716			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37	c.2147G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.210704	0.95069	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605	T;T;T	0.14516	2.5;2.54;2.52	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.54127	0.1839	H	0.96861	3.895	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.945	T	0.71297	-0.4635	10	0.87932	D	0	-16.9574	18.7806	0.91930	0.0:0.0:1.0:0.0	.	772;716	F5H2F4;G3V2B8	.;.	E	772;716;772	ENSP00000438588:G772E;ENSP00000450560:G716E;ENSP00000216605:G772E	ENSP00000216605:G716E	G	+	2	0	MTHFD1	63981174	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.190000	0.94934	2.654000	0.90174	0.650000	0.86243	GGA		0.443	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			4	88	0	0	0	0.014758	0	4	88				
CEP128	145508	broad.mit.edu	37	14	81251329	81251329	+	Silent	SNP	C	C	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr14:81251329C>A	ENST00000555265.1	-	15	2496	c.2121G>T	c.(2119-2121)gtG>gtT	p.V707V	CEP128_ENST00000281129.3_Silent_p.V707V			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	707						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.V707V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GTTTTGTTTTCACACTCTGCA	0.433																																							uc001xux.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2119-2121)GTG>GTT		hypothetical protein LOC145508							217.0	181.0	193.0					14																	81251329		2203	4300	6503	SO:0001819	synonymous_variant	145508					centriole|spindle pole		g.chr14:81251329C>A	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2121G>T	14.37:g.81251329C>A						C14orf145_uc010asz.1_RNA	p.V707V	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0586)	14	2292	-			707			Potential.		B9EK52|Q86X97|Q96ML4	Silent	SNP	ENST00000555265.1	37	c.2121G>T	CCDS32130.1																																																																																				0.433	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		44	173	1	0	2.59497e-14	0.007835	3.30649e-14	44	173				
GABRG3	2567	broad.mit.edu	37	15	27772717	27772717	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr15:27772717C>T	ENST00000333743.6	+	8	1258	c.1004C>T	c.(1003-1005)gCc>gTc	p.A335V	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	335					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.A335V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATGGAGTATGCCACCCTCAAC	0.547																																					NSCLC(114;800 1656 7410 37729 45293)	NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1003-1005)GCC>GTC		gamma-aminobutyric acid (GABA) A receptor, gamma							97.0	88.0	91.0					15																	27772717		2126	4246	6372	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27772717C>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1004C>T	15.37:g.27772717C>T	ENSP00000331912:p.Ala335Val						p.A335V	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	8	1170	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	335			Helical; (Probable).		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.1004C>T	CCDS45195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.568694|5.568694	0.96540|0.96540	.|.	.|.	ENSG00000182256|ENSG00000182256	ENST00000333743|ENST00000451330	D|.	0.89939|.	-2.59|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Neurotransmitter-gated ion-channel transmembrane domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72179|0.72179	0.3428|0.3428	L|L	0.58428|0.58428	1.81|1.81	0.80722|0.80722	D|D	1|1	D|.	0.67145|.	0.996|.	D|.	0.66979|.	0.948|.	T|T	0.69558|0.69558	-0.5113|-0.5113	10|5	0.87932|.	D|.	0|.	.|.	18.3414|18.3414	0.90307|0.90307	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	335|.	Q99928|.	GBRG3_HUMAN|.	V|S	335|98	ENSP00000331912:A335V|.	ENSP00000331912:A335V|.	A|P	+|+	2|1	0|0	GABRG3|GABRG3	25446312|25446312	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.965000|0.965000	0.64279|0.64279	4.653000|4.653000	0.61462|0.61462	2.562000|2.562000	0.86427|0.86427	0.563000|0.563000	0.77884|0.77884	GCC|CCA		0.547	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			3	25	0	0	0	0.004672	0	3	25				
FMN1	342184	broad.mit.edu	37	15	33359007	33359007	+	Intron	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr15:33359007C>T	ENST00000559047.1	-	3	2043				FMN1_ENST00000561249.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.G360E|FMN1_ENST00000334528.9_Missense_Mutation_p.G360E|FMN1_ENST00000559150.1_Intron			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G360E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AGGGTCTGCTCCCTTCGGTTC	0.567																																							uc001zhf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1078-1080)GGA>GAA		formin 1							77.0	79.0	79.0					15																	33359007		2033	4191	6224	SO:0001627	intron_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33359007C>T	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-1732G>A	15.37:g.33359007C>T						FMN1_uc001zhg.2_Missense_Mutation_p.G360E	p.G360E	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	1	1079	-		all_lung(180;1.14e-07)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.1079G>A		.	.	.	.	.	.	.	.	.	.	C	1.232	-0.623891	0.03636	.	.	ENSG00000248905	ENST00000334528	T	0.36157	1.27	5.83	0.0295	0.14163	.	1.293180	0.04806	N	0.434466	T	0.17619	0.0423	.	.	.	.	.	.	B;B	0.11235	0.004;0.001	B;B	0.08055	0.003;0.002	T	0.31503	-0.9941	8	0.02654	T	1	.	11.7249	0.51704	0.0:0.4353:0.3618:0.2029	.	360;360	Q68DA7-3;Q68DA7-5	.;.	E	360	ENSP00000333950:G360E	ENSP00000333950:G360E	G	-	2	0	FMN1	31146299	0.987000	0.35691	0.995000	0.50966	0.938000	0.57974	0.621000	0.24418	0.297000	0.22615	-0.228000	0.12330	GGA		0.567	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		9	118	0	0	0	0.006214	0	9	118				
SLTM	79811	broad.mit.edu	37	15	59192058	59192058	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr15:59192058T>C	ENST00000380516.2	-	7	755	c.668A>G	c.(667-669)cAc>cGc	p.H223R	SLTM_ENST00000536328.1_Intron|SLTM_ENST00000557950.1_5'Flank	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	223	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.H223R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATGAGCTGTGTGATCAGCCTC	0.453																																							uc002afp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(667-669)CAC>CGC		modulator of estrogen induced transcription							127.0	111.0	116.0					15																	59192058		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59192058T>C	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.668A>G	15.37:g.59192058T>C	ENSP00000369887:p.His223Arg					SLTM_uc002afo.2_Missense_Mutation_p.H205R|SLTM_uc002afq.2_Intron|SLTM_uc010bgd.2_Intron|SLTM_uc002afr.1_Missense_Mutation_p.H122R	p.H223R	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN			7	756	-			223			Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.668A>G	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	T	7.541	0.660738	0.14645	.	.	ENSG00000137776	ENST00000380516;ENST00000249736	D;D	0.88586	-2.4;-2.4	5.89	5.89	0.94794	.	0.213968	0.32719	N	0.005722	D	0.83501	0.5268	L	0.44542	1.39	0.80722	D	1	B;B	0.20671	0.047;0.047	B;B	0.19946	0.007;0.027	T	0.77734	-0.2477	10	0.21540	T	0.41	.	10.6769	0.45792	0.1426:0.0:0.0:0.8574	.	205;223	C9IZZ3;Q9NWH9	.;SLTM_HUMAN	R	223;205	ENSP00000369887:H223R;ENSP00000249736:H205R	ENSP00000249736:H205R	H	-	2	0	SLTM	56979350	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.572000	0.45999	2.251000	0.74343	0.482000	0.46254	CAC		0.453	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		4	88	0	0	0	0.009096	0	4	88				
PKD1	5310	broad.mit.edu	37	16	2160594	2160594	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr16:2160594A>C	ENST00000262304.4	-	15	4782	c.4574T>G	c.(4573-4575)gTt>gGt	p.V1525G	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.V1525G	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1525	PKD 10. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.V1525G(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGCCACCCTAACGGTGAAGTC	0.677																																							uc002cos.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(4573-4575)GTT>GGT		polycystin 1 isoform 1 precursor							32.0	37.0	35.0					16																	2160594		2191	4292	6483	SO:0001583	missense	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2160594A>C	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4574T>G	16.37:g.2160594A>C	ENSP00000262304:p.Val1525Gly					PKD1_uc002cot.1_Missense_Mutation_p.V1525G	p.V1525G	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			15	4783	-			1525			Extracellular (Potential).|PKD 10.		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.4574T>G	CCDS32369.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|a	14.88|14.88	2.668338|2.668338	0.47677|0.47677	.|.	.|.	ENSG00000008710|ENSG00000008710	ENST00000306101|ENST00000262304;ENST00000423118	.|T;T	.|0.76060	.|-0.99;-0.99	5.36|5.36	5.36|5.36	0.76844|0.76844	.|PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (4);	.|0.568475	.|0.18698	.|N	.|0.133647	.|D	.|0.88724	.|0.6514	M|M	0.90977|0.90977	3.165|3.165	0.25185|0.25185	N|N	0.990178|0.990178	.|D;D	.|0.71674	.|0.998;0.996	.|D;D	.|0.71656	.|0.918;0.974	.|D	.|0.83512	.|0.0081	.|10	.|0.87932	.|D	.|0	.|.	15.3662|15.3662	0.74523|0.74523	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1525;1525	.|P98161-3;P98161	.|.;PKD1_HUMAN	.|G	-1|1525	.|ENSP00000262304:V1525G;ENSP00000399501:V1525G	.|ENSP00000262304:V1525G	.|V	-|-	.|2	.|0	PKD1|PKD1	2100595|2100595	0.955000|0.955000	0.32602|0.32602	0.003000|0.003000	0.11579|0.11579	0.006000|0.006000	0.05464|0.05464	8.797000|8.797000	0.91882|0.91882	2.037000|2.037000	0.60232|0.60232	0.449000|0.449000	0.29647|0.29647	.|GTT		0.677	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			14	33	0	0	0	0.020292	0	14	33				
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																							uc010vbl.1		NA																	0					0						c.(106-108)CTG>TTG		SubName: Full=Putative uncharacterized protein ENSP00000219758;																																						730092							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A						uc002diq.3_Intron	p.L36L	NR_003370						7	603	-								A8K6T4|B3KWX9|O75704	Silent	SNP	ENST00000546471.1	37	c.106C>T																																																																																					0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		3	18	0	0	0	0.009096	0	3	18				
IL21R	50615	broad.mit.edu	37	16	27454340	27454340	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr16:27454340C>A	ENST00000337929.3	+	5	883	c.410C>A	c.(409-411)tCc>tAc	p.S137Y	IL21R_ENST00000564089.1_Missense_Mutation_p.S137Y|IL21R_ENST00000395755.1_Missense_Mutation_p.S137Y|IL21R_ENST00000395754.4_Missense_Mutation_p.S137Y	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	137	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TATAATATCTCCTGGCGCTCA	0.522			T	BCL6	NHL																																		uc002doq.1		NA		Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				ovary(2)|lung(1)|breast(1)	4						c.(409-411)TCC>TAC		interleukin 21 receptor precursor							113.0	108.0	110.0					16																	27454340		2197	4300	6497	SO:0001583	missense	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27454340C>A	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.410C>A	16.37:g.27454340C>A	ENSP00000338010:p.Ser137Tyr					IL21R_uc002dor.1_Missense_Mutation_p.S137Y|IL21R_uc002dos.1_Missense_Mutation_p.S137Y	p.S137Y	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN			5	643	+			137			Extracellular (Potential).|Fibronectin type-III.		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	37	c.410C>A	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541796	0.45280	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	D;D;D	0.96168	-3.93;-3.93;-3.93	4.7	4.7	0.59300	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.061912	0.64402	D	0.000003	D	0.96592	0.8888	M	0.76328	2.33	0.45762	D	0.998651	D	0.63880	0.993	P	0.59487	0.858	D	0.95894	0.8909	10	0.39692	T	0.17	-31.4694	13.1462	0.59463	0.0:1.0:0.0:0.0	.	137	Q9HBE5	IL21R_HUMAN	Y	137	ENSP00000338010:S137Y;ENSP00000379104:S137Y;ENSP00000379103:S137Y	ENSP00000338010:S137Y	S	+	2	0	IL21R	27361841	0.981000	0.34729	0.817000	0.32601	0.030000	0.12068	4.051000	0.57412	2.150000	0.67090	0.484000	0.47621	TCC		0.522	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078		13	128	1	0	0.000219431	0.020292	0.000245888	13	128				
TP53	7157	broad.mit.edu	37	17	7578382	7578382	+	Nonsense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr17:7578382G>C	ENST00000269305.4	-	5	737	c.548C>G	c.(547-549)tCa>tGa	p.S183*	TP53_ENST00000413465.2_Nonsense_Mutation_p.S183*|TP53_ENST00000455263.2_Nonsense_Mutation_p.S183*|TP53_ENST00000420246.2_Nonsense_Mutation_p.S183*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Nonsense_Mutation_p.S183*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S183*	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	183	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> L (in sporadic cancers; somatic mutation).|S -> P (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.S183*(29)|p.0?(8)|p.H178_S183delHHERCS(3)|p.R174fs*24(3)|p.?(2)|p.S183L(2)|p.S51*(2)|p.S90*(2)|p.V173fs*59(2)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.H46_S51delHHERCS(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.D184fs*4(1)|p.R42fs*24(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)	ATCGCTATCTGAGCAGCGCTC	0.647		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		61	Substitution - Nonsense(33)|Deletion - Frameshift(9)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)|Substitution - Missense(2)|Insertion - In frame(1)	p.S183*(21)|p.0?(7)|p.R174fs*24(3)|p.S183P(3)|p.?(2)|p.S183L(2)|p.V173fs*59(2)|p.K164_P219del(1)|p.E180_S183del(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R81fs*24(1)|p.R42fs*24(1)	lung(14)|upper_aerodigestive_tract(10)|large_intestine(9)|urinary_tract(7)|central_nervous_system(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|stomach(1)|oesophagus(1)|prostate(1)|liver(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.(547-549)TCA>TGA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							47.0	46.0	47.0					17																	7578382		2203	4300	6503	SO:0001587	stop_gained	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.chr17:7578382G>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.548C>G	17.37:g.7578382G>C	ENSP00000269305:p.Ser183*	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_Nonsense_Mutation_p.S183*|TP53_uc002gih.2_Nonsense_Mutation_p.S183*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.S51*|TP53_uc010cng.1_Nonsense_Mutation_p.S51*|TP53_uc002gii.1_Nonsense_Mutation_p.S51*|TP53_uc010cnh.1_Nonsense_Mutation_p.S183*|TP53_uc010cni.1_Nonsense_Mutation_p.S183*|TP53_uc002gij.2_Nonsense_Mutation_p.S183*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.S90*|TP53_uc002gio.2_Nonsense_Mutation_p.S51*|TP53_uc010vug.1_Nonsense_Mutation_p.S144*	p.S183*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	742	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	183		S -> P (in sporadic cancers; somatic mutation).|S -> L (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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.548C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279499	0.59758	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.47	4.49	0.54785	.	0.792587	0.11610	N	0.546873	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-5.9105	8.094	0.30818	0.084:0.1611:0.7549:0.0	.	.	.	.	X	183;183;183;183;183;183;172;90;51;90;51	.	ENSP00000269305:S183X	S	-	2	0	TP53	7519107	0.001000	0.12720	0.516000	0.27786	0.577000	0.36160	0.920000	0.28705	1.440000	0.47531	0.563000	0.77884	TCA		0.647	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	49	0	0	0	0.009096	0	4	49				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	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		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)CGC>CAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	50.0	50.0					17																	7578406		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.chr17:7578406C>T	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	p.R175H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (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.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	69	0	0	0	0.004482	0	7	69				
TEKT3	64518	broad.mit.edu	37	17	15207417	15207417	+	Missense_Mutation	SNP	G	G	A	rs148345040	byFrequency	TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr17:15207417G>A	ENST00000395930.1	-	9	1495	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	TEKT3_ENST00000462175.1_5'UTR|TEKT3_ENST00000338696.2_Missense_Mutation_p.R437C	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	437					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.R437C(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TCCCTCAGGCGCTGCTGCAGG	0.542																																							uc002gon.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1309-1311)CGC>TGC		tektin 3		G	CYS/ARG	0,4406		0,0,2203	146.0	114.0	125.0		1309	5.1	1.0	17	dbSNP_134	125	3,8597	3.0+/-9.4	0,3,4297	yes	missense	TEKT3	NM_031898.2	180	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	437/491	15207417	3,13003	2203	4300	6503	SO:0001583	missense	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15207417G>A	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.1309C>T	17.37:g.15207417G>A	ENSP00000379263:p.Arg437Cys						p.R437C	NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	9	1496	-			437			Potential.		B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	c.1309C>T	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	G	11.68	1.709952	0.30322	0.0	3.49E-4	ENSG00000125409	ENST00000395930;ENST00000338696	T;T	0.02682	4.2;4.2	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.06872	0.0175	M	0.88906	2.99	0.51767	D	0.999931	B	0.22276	0.067	B	0.20955	0.032	T	0.03364	-1.1044	10	0.54805	T	0.06	-5.2036	7.9702	0.30124	0.0764:0.0:0.6523:0.2713	.	437	Q9BXF9	TEKT3_HUMAN	C	437	ENSP00000379263:R437C;ENSP00000343995:R437C	ENSP00000343995:R437C	R	-	1	0	TEKT3	15148142	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.020000	0.49643	2.563000	0.86464	0.561000	0.74099	CGC		0.542	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		6	53	0	0	0	0.00308	0	6	53				
SMCR8	140775	broad.mit.edu	37	17	18219416	18219416	+	Missense_Mutation	SNP	G	G	A	rs375580851		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr17:18219416G>A	ENST00000406438.3	+	1	793	c.313G>A	c.(313-315)Ggc>Agc	p.G105S	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	105						nucleus (GO:0005634)		p.G105S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTCCTTCGTGGGCCATCCTCC	0.517																																							uc002gsy.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(313-315)GGC>AGC		Smith-Magenis syndrome chromosome region,							153.0	147.0	149.0					17																	18219416		2203	4299	6502	SO:0001583	missense	140775							g.chr17:18219416G>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.313G>A	17.37:g.18219416G>A	ENSP00000385025:p.Gly105Ser						p.G105S	NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN			1	823	+			105					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.313G>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675778	0.88445	.	.	ENSG00000176994	ENST00000406438	T	0.26067	1.76	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.40701	-0.9549	10	0.56958	D	0.05	-21.4121	19.6713	0.95912	0.0:0.0:1.0:0.0	.	105	Q8TEV9	SMCR8_HUMAN	S	105	ENSP00000385025:G105S	ENSP00000385025:G105S	G	+	1	0	SMCR8	18160141	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	8.685000	0.91246	2.648000	0.89879	0.655000	0.94253	GGC		0.517	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		28	171	0	0	0	0.00632	0	28	171				
KRT23	25984	broad.mit.edu	37	17	39092763	39092763	+	Silent	SNP	A	A	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr17:39092763A>G	ENST00000209718.3	-	2	517	c.93T>C	c.(91-93)gcT>gcC	p.A31A	KRT23_ENST00000436344.3_Intron|KRT23_ENST00000582283.1_5'Flank|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	31	Head.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.A31A(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GGACGGTGGGAGCCCTGGGGA	0.692																																							uc002hvm.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(91-93)GCT>GCC		keratin 23							21.0	28.0	25.0					17																	39092763		2196	4284	6480	SO:0001819	synonymous_variant	25984					intermediate filament	structural molecule activity	g.chr17:39092763A>G	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.93T>C	17.37:g.39092763A>G						KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.2_Silent_p.A31A|KRT23_uc002hvn.1_Silent_p.A31A	p.A31A	NM_015515	NP_056330	Q9C075	K1C23_HUMAN			2	682	-		Breast(137;0.000301)|Ovarian(249;0.15)	31			Head.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Silent	SNP	ENST00000209718.3	37	c.93T>C	CCDS11380.1																																																																																				0.692	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1			5	43	0	0	0	0.014758	0	5	43				
MED13	9969	broad.mit.edu	37	17	60039133	60039133	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr17:60039133G>A	ENST00000397786.2	-	22	5148	c.5072C>T	c.(5071-5073)cCt>cTt	p.P1691L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1691					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.P1691L(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTACTGACAAGGAATAATCTA	0.373																																							uc002izo.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(5071-5073)CCT>CTT		mediator complex subunit 13							105.0	104.0	104.0					17																	60039133		1810	4063	5873	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60039133G>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5072C>T	17.37:g.60039133G>A	ENSP00000380888:p.Pro1691Leu						p.P1691L	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			22	5149	-			1691					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.5072C>T	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640769	0.87859	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.87571	-2.27	5.3	5.3	0.74995	.	0.109062	0.64402	D	0.000005	D	0.93462	0.7914	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94016	0.7288	10	0.87932	D	0	-20.7385	18.9646	0.92691	0.0:0.0:1.0:0.0	.	1691	Q9UHV7	MED13_HUMAN	L	1691;1690	ENSP00000380888:P1691L	ENSP00000262436:P1690L	P	-	2	0	MED13	57393915	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.416000	0.97383	2.486000	0.83907	0.591000	0.81541	CCT		0.373	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		9	122	0	0	0	0.004482	0	9	122				
ACE	1636	broad.mit.edu	37	17	61559918	61559918	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr17:61559918C>G	ENST00000290866.4	+	8	1234	c.1210C>G	c.(1210-1212)Ctg>Gtg	p.L404V	ACE_ENST00000490216.2_5'Flank|ACE_ENST00000538928.1_Missense_Mutation_p.L404V|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.L404V|ACE_ENST00000421982.2_5'Flank|ACE_ENST00000290863.6_5'Flank|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000413513.3_5'Flank	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	404	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)	p.L404V(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GTACAAGGATCTGCCCGTCTC	0.597																																							uc002jau.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(1210-1212)CTG>GTG		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						126.0	99.0	108.0					17																	61559918		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61559918C>G	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1210C>G	17.37:g.61559918C>G	ENSP00000290866:p.Leu404Val					ACE_uc010wpi.1_Missense_Mutation_p.L404V|ACE_uc010ddu.1_Missense_Mutation_p.L221V|ACE_uc002jav.1_5'Flank|ACE_uc010ddv.1_5'Flank|ACE_uc010wpj.1_5'Flank|ACE_uc002jaw.1_5'Flank|ACE_uc010wpk.1_5'Flank	p.L404V	NM_000789	NP_000780	P12821	ACE_HUMAN			8	1232	+			404			Extracellular (Potential).|Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.1210C>G	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273905	0.59649	.	.	ENSG00000159640	ENST00000538928;ENST00000290866;ENST00000428043	T;T;T	0.36699	1.24;1.24;1.24	4.55	4.55	0.56014	.	0.130152	0.53938	D	0.000060	T	0.44286	0.1286	M	0.71296	2.17	0.80722	D	1	B;B;B	0.20988	0.017;0.008;0.05	B;B;B	0.30179	0.023;0.009;0.112	T	0.46830	-0.9163	10	0.51188	T	0.08	-14.395	17.5001	0.87728	0.0:1.0:0.0:0.0	.	404;404;404	F5H1K1;P12821-2;P12821	.;.;ACE_HUMAN	V	404	ENSP00000439591:L404V;ENSP00000290866:L404V;ENSP00000397593:L404V	ENSP00000290866:L404V	L	+	1	2	ACE	58913650	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.858000	0.69532	2.346000	0.79739	0.561000	0.74099	CTG		0.597	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			7	97	0	0	0	0.00308	0	7	97				
DSG2	1829	broad.mit.edu	37	18	29104409	29104409	+	Splice_Site	SNP	A	A	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr18:29104409A>G	ENST00000261590.8	+	7	899		c.e7-1			NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2						apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ATTGCTCTGCAGGAACACAGC	0.398																																							uc002kwu.3		NA																	1	Unknown(1)		lung(1)	central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9						c.e7-2		desmoglein 2 preproprotein							83.0	75.0	78.0					18																	29104409		1914	4147	6061	SO:0001630	splice_region_variant	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29104409A>G	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.691-1A>G	18.37:g.29104409A>G							p.E231_splice	NM_001943	NP_001934	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		7	879	+								Q4KKU6	Splice_Site	SNP	ENST00000261590.8	37	c.691_splice	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243881	0.79912	.	.	ENSG00000046604	ENST00000261590	.	.	.	5.58	5.58	0.84498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0365	0.80635	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DSG2	27358407	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.819000	0.86621	2.250000	0.74265	0.533000	0.62120	.		0.398	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943	Intron	8	31	0	0	0	0.00308	0	8	31				
TNPO2	30000	broad.mit.edu	37	19	12813730	12813730	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr19:12813730C>T	ENST00000592287.1	-	20	2320	c.2212G>A	c.(2212-2214)Gca>Aca	p.A738T	TNPO2_ENST00000450764.2_Missense_Mutation_p.A738T|TNPO2_ENST00000588216.1_Missense_Mutation_p.A738T|TNPO2_ENST00000425528.1_Missense_Mutation_p.A738T|TNPO2_ENST00000356861.5_Missense_Mutation_p.A738T|TNPO2_ENST00000441499.1_Missense_Mutation_p.A738T	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	738					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)	p.A738T(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCATCTCTGCCCCTGGGGGA	0.612																																							uc002muo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2212-2214)GCA>ACA		transportin 2 (importin 3, karyopherin beta 2b)							171.0	180.0	177.0					19																	12813730		2008	4178	6186	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12813730C>T	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.2212G>A	19.37:g.12813730C>T	ENSP00000468434:p.Ala738Thr					TNPO2_uc002mup.2_Missense_Mutation_p.A830T|TNPO2_uc002muq.2_Missense_Mutation_p.A738T|TNPO2_uc002mur.2_Missense_Mutation_p.A738T	p.A738T	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN			20	2397	-			738			HEAT 12.		O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.2212G>A	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774514	0.49786	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000546320	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.91	5.91	0.95273	Armadillo-like helical (1);Armadillo-type fold (1);	0.156997	0.56097	D	0.000025	T	0.32041	0.0816	L	0.54323	1.7	0.47183	D	0.999347	B;B	0.13594	0.008;0.0	B;B	0.09377	0.004;0.002	T	0.09574	-1.0668	10	0.16896	T	0.51	-16.652	19.0772	0.93168	0.0:1.0:0.0:0.0	.	902;738	Q4LE60;O14787	.;TNPO2_HUMAN	T	902;738;738;738;738;738	ENSP00000407182:A738T;ENSP00000389648:A738T;ENSP00000397379:A738T;ENSP00000349321:A738T	ENSP00000349321:A738T	A	-	1	0	TNPO2	12674730	0.845000	0.29573	1.000000	0.80357	0.951000	0.60555	3.036000	0.49767	2.791000	0.96007	0.655000	0.94253	GCA		0.612	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		27	140	0	0	0	0.005443	0	27	140				
LPHN1	22859	broad.mit.edu	37	19	14262269	14262269	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr19:14262269C>T	ENST00000340736.6	-	24	4138	c.3841G>A	c.(3841-3843)Gag>Aag	p.E1281K	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.E1276K	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1281					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.E1281K(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATCATCTTCTCAAAGGCCGCC	0.652																																							uc010xnn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(1)	5						c.(3841-3843)GAG>AAG		latrophilin 1 isoform 1 precursor							20.0	25.0	23.0					19																	14262269		2202	4294	6496	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14262269C>T	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.3841G>A	19.37:g.14262269C>T	ENSP00000340688:p.Glu1281Lys					LPHN1_uc010xno.1_Missense_Mutation_p.E1276K|uc002myf.2_Intron	p.E1281K	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			24	4137	-			1281			Cytoplasmic (Potential).		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.3841G>A	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966176	0.53507	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	D;D	0.85171	-1.95;-1.94	4.48	3.42	0.39159	GPCR, family 2, latrophilin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90892	0.7138	M	0.73962	2.25	0.48341	D	0.999633	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90883	0.4755	10	0.87932	D	0	.	11.484	0.50342	0.1813:0.8187:0.0:0.0	.	1276;1281	O94910-2;O94910	.;LPHN1_HUMAN	K	1281;1276	ENSP00000340688:E1281K;ENSP00000355328:E1276K	ENSP00000340688:E1281K	E	-	1	0	LPHN1	14123269	1.000000	0.71417	0.985000	0.45067	0.354000	0.29330	7.416000	0.80143	0.844000	0.35094	0.313000	0.20887	GAG		0.652	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		5	36	0	0	0	0.014758	0	5	36				
RFXANK	8625	broad.mit.edu	37	19	19312474	19312474	+	Silent	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr19:19312474G>A	ENST00000303088.4	+	10	1203	c.729G>A	c.(727-729)gaG>gaA	p.E243E	NR2C2AP_ENST00000331552.7_3'UTR|RFXANK_ENST00000392324.4_Silent_p.E220E|NR2C2AP_ENST00000544883.1_3'UTR|RFXANK_ENST00000407360.3_Silent_p.E243E|RFXANK_ENST00000353145.1_Silent_p.E220E|RFXANK_ENST00000456252.3_Silent_p.E221E|NR2C2AP_ENST00000420605.3_Intron	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	243					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.E243E(1)		NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			AGGTGATCGAGAACCACATCC	0.597																																							uc002nls.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(727-729)GAG>GAA		regulatory factor X-associated							135.0	114.0	121.0					19																	19312474		2203	4300	6503	SO:0001819	synonymous_variant	8625					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:19312474G>A	AF094760	CCDS12395.1, CCDS12396.1, CCDS62611.1	19p12	2014-09-17			ENSG00000064490	ENSG00000064490		"""Ankyrin repeat domain containing"""	9987	protein-coding gene	gene with protein product	"""ankyrin repeat-containing regulatory factor X-associated protein"", ""regulatory factor X subunit B"", ""RFX-Bdelta4"", ""DNA-binding protein RFXANK"""	603200				9806546, 10072068	Standard	NM_003721		Approved	BLS, RFX-B, ANKRA1, F14150_1, MGC138628	uc002nls.3	O14593	OTTHUMG00000169224	ENST00000303088.4:c.729G>A	19.37:g.19312474G>A						RFXANK_uc002nlt.2_Silent_p.E220E|RFXANK_uc002nlu.2_Silent_p.E221E|RFXANK_uc002nlv.2_Silent_p.E243E|RFXANK_uc002nlw.2_Silent_p.E242E|NR2C2AP_uc010xqq.1_Intron|NR2C2AP_uc002nlx.2_3'UTR|NR2C2AP_uc002nly.2_3'UTR	p.E243E	NM_003721	NP_003712	O14593	RFXK_HUMAN	Epithelial(12;0.00228)		10	1234	+			243			ANK 5.		O95839|Q24JQ1|Q6FGA8	Silent	SNP	ENST00000303088.4	37	c.729G>A	CCDS12395.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.428975	0.25726	.	.	ENSG00000064490	ENST00000536253	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	T	0.71970	0.3403	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70085	-0.4969	4	.	.	.	-33.319	16.2602	0.82536	0.0:0.0:1.0:0.0	.	.	.	.	K	58	.	.	R	+	2	0	RFXANK	19173474	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.110000	0.41873	2.709000	0.92574	0.561000	0.74099	AGA		0.597	RFXANK-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402923.2	NM_003721		6	111	0	0	0	0.001168	0	6	111				
IFNL1	282618	broad.mit.edu	37	19	39789087	39789087	+	Silent	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr19:39789087G>A	ENST00000333625.2	+	5	631	c.534G>A	c.(532-534)acG>acA	p.T178T		NM_172140.1	NP_742152.1	Q8IU54	IFNL1_HUMAN	interferon, lambda 1	178					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of cell proliferation (GO:0008285)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of memory T cell differentiation (GO:0043381)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of immune response (GO:0050778)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-28 receptor complex (GO:0032002)	interleukin-28 receptor binding (GO:0032003)|receptor binding (GO:0005102)	p.T178T(1)									GCCTCCTCACGCGAGACCTCA	0.602																																							uc002okv.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(532-534)ACG>ACA		interleukin 29 precursor							136.0	134.0	135.0					19																	39789087		2203	4300	6503	SO:0001819	synonymous_variant	282618				defense response to virus|negative regulation of cell proliferation|negative regulation of interleukin-13 production|negative regulation of interleukin-5 production|negative regulation of memory T cell differentiation|negative regulation of transcription, DNA-dependent|negative regulation of type 2 immune response|positive regulation of immune response|positive regulation of interferon-gamma production|positive regulation of MHC class I biosynthetic process|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein	extracellular space|interleukin-28 receptor complex	cytokine activity|interleukin-28 receptor binding	g.chr19:39789087G>A	AY129150	CCDS12531.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000182393	ENSG00000182393		"""Interferons"""	18363	protein-coding gene	gene with protein product		607403	"""interleukin 29"", ""interleukin 29 (interferon, lambda 1)"""	IL29			Standard	NM_172140		Approved	IL-29	uc002okv.3	Q8IU54		ENST00000333625.2:c.534G>A	19.37:g.39789087G>A							p.T178T	NM_172140	NP_742152	Q8IU54	IL29_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		5	631	+	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		178					A0AV25|Q17R34	Silent	SNP	ENST00000333625.2	37	c.534G>A	CCDS12531.1																																																																																				0.602	IFNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463834.1	NM_172140		5	121	0	0	0	0.014758	0	5	121				
ZNF428	126299	broad.mit.edu	37	19	44112203	44112203	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr19:44112203C>T	ENST00000300811.3	-	3	579	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	SRRM5_ENST00000607544.1_Intron|SRRM5_ENST00000526798.1_Intron	NM_182498.3	NP_872304.2	Q96B54	ZN428_HUMAN	zinc finger protein 428	45	Glu-rich.						metal ion binding (GO:0046872)	p.E45K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	5		Prostate(69;0.0153)				tcatcttcttcctcttcGGAG	0.577																																							uc002oxa.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(133-135)GAA>AAA		zinc finger protein 428							34.0	30.0	31.0					19																	44112203		2171	4237	6408	SO:0001583	missense	126299					intracellular	zinc ion binding	g.chr19:44112203C>T	AY257197	CCDS12626.1	19q13.31	2008-05-02	2006-07-04	2006-07-04				"""Zinc fingers, C2H2-type"""	20804	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 37"""	C19orf37			Standard	NM_182498		Approved	MGC51082, Zfp428	uc002oxa.3	Q96B54		ENST00000300811.3:c.133G>A	19.37:g.44112203C>T	ENSP00000300811:p.Glu45Lys					SRRM5_uc002oxb.2_Intron	p.E45K	NM_182498	NP_872304	Q96B54	ZN428_HUMAN			3	568	-		Prostate(69;0.0153)	45			Glu-rich.		O95054|Q6X3Y3	Missense_Mutation	SNP	ENST00000300811.3	37	c.133G>A	CCDS12626.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349903	0.82132	.	.	ENSG00000131116	ENST00000300811;ENST00000391964	.	.	.	4.77	4.77	0.60923	.	0.259729	0.27451	N	0.019312	T	0.43787	0.1263	N	0.19112	0.55	0.35725	D	0.817461	B	0.18610	0.029	B	0.20767	0.031	T	0.53641	-0.8410	9	0.66056	D	0.02	2.5654	13.1514	0.59492	0.0:1.0:0.0:0.0	.	45	Q96B54	ZN428_HUMAN	K	45	.	ENSP00000300811:E45K	E	-	1	0	ZNF428	48804043	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.130000	0.50508	2.483000	0.83821	0.563000	0.77884	GAA		0.577	ZNF428-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463349.1	NM_182498		13	39	0	0	0	0.016723	0	13	39				
ZNF226	7769	broad.mit.edu	37	19	44681620	44681620	+	Silent	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr19:44681620C>T	ENST00000590089.1	+	7	2572	c.2205C>T	c.(2203-2205)gtC>gtT	p.V735V	ZNF226_ENST00000454662.2_Silent_p.V735V|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Silent_p.V735V			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	735					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.V735V(1)					Prostate(69;0.0352)|all_neural(266;0.202)				GTGGTAAAGTCTTCAGTCGGT	0.448																																					Pancreas(115;581 1665 13228 19278 50070)	Pancreas(115;581 1665 13228 19278 50070)	uc002oyp.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2203-2205)GTC>GTT		zinc finger protein 226 isoform a							149.0	157.0	154.0					19																	44681620		2195	4299	6494	SO:0001819	synonymous_variant	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44681620C>T	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.2205C>T	19.37:g.44681620C>T						ZNF226_uc002oyq.2_Silent_p.V618V|ZNF226_uc002oyr.2_Silent_p.V618V|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Silent_p.V735V|ZNF226_uc002oyt.2_Silent_p.V735V	p.V735V	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN			6	2349	+		Prostate(69;0.0352)|all_neural(266;0.202)	735			C2H2-type 18.		Q8WWE6|Q96TE6|Q9NS44	Silent	SNP	ENST00000590089.1	37	c.2205C>T	CCDS46102.1																																																																																				0.448	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			13	142	0	0	0	0.016723	0	13	142				
KCNA7	3743	broad.mit.edu	37	19	49575293	49575293	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr19:49575293C>T	ENST00000221444.1	-	1	905	c.550G>A	c.(550-552)Ggc>Agc	p.G184S		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	184					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.G184S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	CTCACCGGGCCGGCTGCGGCT	0.706																																					Colon(74;686 1235 3793 23366 48562)	Colon(74;686 1235 3793 23366 48562)	uc002pmg.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(550-552)GGC>AGC		potassium voltage-gated channel, shaker-related							6.0	7.0	7.0					19																	49575293		1817	3669	5486	SO:0001583	missense	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49575293C>T	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.550G>A	19.37:g.49575293C>T	ENSP00000221444:p.Gly184Ser						p.G184S	NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	1	906	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	184					A1KYX7|Q9BYS4	Missense_Mutation	SNP	ENST00000221444.1	37	c.550G>A	CCDS12755.1	.	.	.	.	.	.	.	.	.	.	C	7.057	0.565694	0.13560	.	.	ENSG00000104848	ENST00000221444	D	0.97620	-4.46	4.57	3.44	0.39384	.	2.196060	0.02132	N	0.056500	D	0.93556	0.7943	L	0.29908	0.895	0.26918	N	0.966732	B	0.23650	0.089	B	0.08055	0.003	T	0.81355	-0.0970	10	0.06757	T	0.87	.	12.0898	0.53719	0.0:0.8244:0.1756:0.0	.	184	Q96RP8	KCNA7_HUMAN	S	184	ENSP00000221444:G184S	ENSP00000221444:G184S	G	-	1	0	KCNA7	54267105	0.965000	0.33210	0.832000	0.32986	0.015000	0.08874	3.415000	0.52700	2.273000	0.75805	0.485000	0.47835	GGC		0.706	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886		7	5	0	0	0	0.00308	0	7	5				
ZNF473	25888	broad.mit.edu	37	19	50548237	50548237	+	Silent	SNP	A	A	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr19:50548237A>T	ENST00000595661.1	+	6	1032	c.537A>T	c.(535-537)acA>acT	p.T179T	ZNF473_ENST00000445728.3_Silent_p.T167T|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000270617.3_Silent_p.T179T|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Silent_p.T179T|CTD-2126E3.3_ENST00000599914.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	179					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T179T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGACCCTCACACCAGCTAAGT	0.458																																							uc002prn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(535-537)ACA>ACT		zinc finger protein 473							62.0	62.0	62.0					19																	50548237		2203	4300	6503	SO:0001819	synonymous_variant	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50548237A>T	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.537A>T	19.37:g.50548237A>T						ZNF473_uc002prm.2_Silent_p.T179T|ZNF473_uc010ybo.1_Silent_p.T167T	p.T179T	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	5	774	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	179					A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	c.537A>T	CCDS33077.1																																																																																				0.458	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		13	69	0	0	0	0.003163	0	13	69				
NLRP5	126206	broad.mit.edu	37	19	56539579	56539579	+	Silent	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr19:56539579G>C	ENST00000390649.3	+	7	1980	c.1980G>C	c.(1978-1980)ggG>ggC	p.G660G		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	660					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.G660G(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTCCCCTGGGGGTGAAGCAGA	0.577																																							uc002qmj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(1978-1980)GGG>GGC		NACHT, LRR and PYD containing protein 5							64.0	67.0	66.0					19																	56539579		1972	4156	6128	SO:0001819	synonymous_variant	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539579G>C	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1980G>C	19.37:g.56539579G>C						NLRP5_uc002qmi.2_Silent_p.G641G	p.G660G	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1980	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	660					A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	c.1980G>C	CCDS12938.1																																																																																				0.577	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		11	89	0	0	0	0.013537	0	11	89				
ZNF304	57343	broad.mit.edu	37	19	57869098	57869098	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr19:57869098G>C	ENST00000282286.5	+	3	2034	c.1861G>C	c.(1861-1863)Ggg>Cgg	p.G621R	ZNF304_ENST00000391705.3_Missense_Mutation_p.G621R|ZNF304_ENST00000598744.1_Missense_Mutation_p.G579R|ZNF304_ENST00000443917.2_Missense_Mutation_p.G668R			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	621					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.G621R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CAGCGAATGTGGGAAAGCCTA	0.502																																							uc010ygw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1861-1863)GGG>CGG		zinc finger protein 304							106.0	107.0	106.0					19																	57869098		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57869098G>C	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1861G>C	19.37:g.57869098G>C	ENSP00000282286:p.Gly621Arg					ZNF304_uc010etw.2_Missense_Mutation_p.G668R|ZNF304_uc010etx.2_Missense_Mutation_p.G579R	p.G621R	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	2249	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	621			C2H2-type 16.			Missense_Mutation	SNP	ENST00000282286.5	37	c.1861G>C	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773748	0.69992	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.22743	1.94;1.94;1.94	3.82	3.82	0.43975	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48295	0.1492	M	0.81112	2.525	0.36109	D	0.844671	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.61143	-0.7122	9	0.49607	T	0.09	.	15.6665	0.77234	0.0:0.0:1.0:0.0	.	621;668	Q9HCX3;E7EQD3	ZN304_HUMAN;.	R	621;621;668	ENSP00000282286:G621R;ENSP00000375586:G621R;ENSP00000401642:G668R	ENSP00000282286:G621R	G	+	1	0	ZNF304	62560910	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	4.159000	0.58157	2.425000	0.82216	0.650000	0.86243	GGG		0.502	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			23	114	0	0	0	0.012319	0	23	114				
DNMT3A	1788	broad.mit.edu	37	2	25470495	25470495	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr2:25470495A>C	ENST00000264709.3	-	8	1316	c.979T>G	c.(979-981)Tgg>Ggg	p.W327G	DNMT3A_ENST00000402667.1_Missense_Mutation_p.W104G|DNMT3A_ENST00000380746.4_Missense_Mutation_p.W138G|DNMT3A_ENST00000321117.5_Missense_Mutation_p.W327G	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	327	Interaction with DNMT1 and DNMT3B.|PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.W138G(1)|p.W327G(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACATGACCCAGCGGGTGCCT	0.622			"""Mis, F, N, S"""		AML																																		uc002rgc.2		NA		Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(979-981)TGG>GGG		DNA cytosine methyltransferase 3 alpha isoform							130.0	139.0	136.0					2																	25470495		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25470495A>C		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.979T>G	2.37:g.25470495A>C	ENSP00000264709:p.Trp327Gly					DNMT3A_uc002rgd.2_Missense_Mutation_p.W327G|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.W138G	p.W327G	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			8	1236	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		327			Interaction with DNMT1 and DNMT3B.|PWWP.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.979T>G	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.090314	0.76756	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	4.97	4.97	0.65823	PWWP (3);	0.000000	0.85682	D	0.000000	D	0.83885	0.5351	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86192	0.1613	10	0.72032	D	0.01	-7.0978	13.6031	0.62031	1.0:0.0:0.0:0.0	.	327;138	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	G	138;327;327;104	ENSP00000370122:W138G;ENSP00000324375:W327G;ENSP00000264709:W327G;ENSP00000384237:W104G	ENSP00000264709:W327G	W	-	1	0	DNMT3A	25323999	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.231000	0.78106	2.088000	0.63022	0.379000	0.24179	TGG		0.622	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		16	53	0	0	0	0.00499	0	16	53				
DNAH6	1768	broad.mit.edu	37	2	84804447	84804447	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr2:84804447G>C	ENST00000237449.6	+	12	1999	c.1991G>C	c.(1990-1992)aGa>aCa	p.R664T	DNAH6_ENST00000398278.2_Missense_Mutation_p.R664T|DNAH6_ENST00000389394.3_Missense_Mutation_p.R664T			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	664	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R243I(1)|p.R664T(1)|p.R243T(1)|p.R664I(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GTAGCGCTCAGACCCACCAGA	0.343																																							uc010fgb.2		NA																	4	Substitution - Missense(4)		lung(4)	central_nervous_system(1)	1						c.(1990-1992)AGA>ACA		dynein, axonemal, heavy polypeptide 6							68.0	64.0	65.0					2																	84804447		2203	4300	6503	SO:0001583	missense	1768				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr2:84804447G>C	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1991G>C	2.37:g.84804447G>C	ENSP00000237449:p.Arg664Thr					DNAH6_uc002soo.2_Missense_Mutation_p.R243T|DNAH6_uc002sop.2_Missense_Mutation_p.R243T	p.R664T	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN			13	2128	+			664			Stem (By similarity).		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	c.1991G>C	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	G	7.524	0.657376	0.14580	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.24151	1.87;2.0;1.87	5.07	0.0347	0.14185	.	0.219311	0.32028	N	0.006695	T	0.13329	0.0323	L	0.34521	1.04	0.20403	N	0.999907	B;B	0.14438	0.001;0.01	B;B	0.09377	0.004;0.003	T	0.32134	-0.9918	10	0.10636	T	0.68	.	5.9857	0.19432	0.3574:0.1268:0.5158:0.0	.	664;243	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	T	664	ENSP00000374045:R664T;ENSP00000381326:R664T;ENSP00000237449:R664T	ENSP00000237449:R664T	R	+	2	0	DNAH6	84657958	0.262000	0.24073	0.360000	0.25837	0.942000	0.58702	0.077000	0.14738	0.004000	0.14682	0.561000	0.74099	AGA		0.343	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370		12	40	0	0	0	0.016723	0	12	40				
WASH2P	375260	broad.mit.edu	37	2	114357557	114357557	+	RNA	SNP	A	A	G	rs377652994		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr2:114357557A>G	ENST00000538033.2	+	0	2800							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										GCCTACTTCTAGTGAAACTGG	0.567																																							uc010yxx.1		NA																	0					0						c.(382-384)TAG>CAG		SubName: Full=DEAD/H box polypeptide 11 like 2;																																						84771							g.chr2:114357557A>G			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114357557A>G							p.*128Q							3	709	-									Nonstop_Mutation	SNP	ENST00000538033.2	37	c.382T>C																																																																																					0.567	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943		3	25	0	0	0	0.004672	0	3	25				
GLI2	2736	broad.mit.edu	37	2	121708991	121708991	+	De_novo_Start_OutOfFrame	SNP	T	T	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr2:121708991T>A	ENST00000314490.11	+	0	457				GLI2_ENST00000361492.4_Missense_Mutation_p.S143T|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000452319.1_Missense_Mutation_p.S143T					GLI family zinc finger 2									p.S143T(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTCCATGATCTCTGCAGCCAG	0.677																																							uc010flp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(427-429)TCT>ACT		GLI-Kruppel family member GLI2							43.0	43.0	43.0					2																	121708991		2203	4300	6503			2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121708991T>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000314490.11:c.-558T>A	2.37:g.121708991T>A						GLI2_uc010yyu.1_Missense_Mutation_p.S143T|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Intron|GLI2_uc002tmu.3_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_Missense_Mutation_p.S18T|GLI2_uc002tmw.1_Missense_Mutation_p.S143T	p.S143T	NM_005270	NP_005261	P10070	GLI2_HUMAN			3	457	+	Renal(3;0.0496)	Prostate(154;0.0623)	143						Missense_Mutation	SNP	ENST00000314490.11	37	c.427T>A		.	.	.	.	.	.	.	.	.	.	T	25.1	4.598510	0.87055	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.70749	-0.51;-0.51	5.18	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.81795	0.4898	M	0.77103	2.36	0.80722	D	1	D;P;P	0.71674	0.998;0.953;0.615	D;P;B	0.66979	0.948;0.857;0.219	T	0.82639	-0.0358	10	0.59425	D	0.04	.	11.5035	0.50451	0.1345:0.0:0.0:0.8655	.	143;143;143	B4DT63;P10070;Q0VGA0	.;GLI2_HUMAN;.	T	143	ENSP00000390436:S143T;ENSP00000354586:S143T	ENSP00000354586:S143T	S	+	1	0	GLI2	121425461	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.140000	0.71738	0.979000	0.38497	0.454000	0.30748	TCT		0.677	GLI2-201	KNOWN	basic	protein_coding	protein_coding		NM_005270		11	42	0	0	0	0.008291	0	11	42				
LRP1B	53353	broad.mit.edu	37	2	141526893	141526893	+	Missense_Mutation	SNP	A	A	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr2:141526893A>G	ENST00000389484.3	-	35	6618	c.5647T>C	c.(5647-5649)Tac>Cac	p.Y1883H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1883					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.Y1883H(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGAACAGAGTACATAAGAAAT	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(5647-5649)TAC>CAC		low density lipoprotein-related protein 1B							67.0	66.0	67.0					2																	141526893		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141526893A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5647T>C	2.37:g.141526893A>G	ENSP00000374135:p.Tyr1883His	TSP Lung(27;0.18)					p.Y1883H	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	35	6619	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1883			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5647T>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.643560	0.87859	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91351	-2.83	5.59	5.59	0.84812	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.95974	0.8689	M	0.89214	3.015	0.54753	D	0.999981	D	0.76494	0.999	D	0.83275	0.996	D	0.96645	0.9477	10	0.72032	D	0.01	.	15.7677	0.78141	1.0:0.0:0.0:0.0	.	1883	Q9NZR2	LRP1B_HUMAN	H	1883;1821	ENSP00000374135:Y1883H	ENSP00000374135:Y1883H	Y	-	1	0	LRP1B	141243363	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.121000	0.94375	2.129000	0.65627	0.533000	0.62120	TAC		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		11	32	0	0	0	0.016723	0	11	32				
CDCA7	83879	broad.mit.edu	37	2	174229553	174229553	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr2:174229553C>T	ENST00000347703.3	+	5	637	c.493C>T	c.(493-495)Ccg>Tcg	p.P165S	CDCA7_ENST00000306721.3_Missense_Mutation_p.P244S|CDCA7_ENST00000392567.2_Missense_Mutation_p.P165S|CDCA7_ENST00000410019.3_Missense_Mutation_p.P123S|CDCA7_ENST00000410101.3_Missense_Mutation_p.P200S	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	165	Arg-rich.|Interaction with MYC.				apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P244S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GCGTACATTCCCGGGTGTTGC	0.498																																							uc002uid.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(493-495)CCG>TCG		cell division cycle associated 7 isoform 2							82.0	83.0	83.0					2																	174229553		2203	4300	6503	SO:0001583	missense	83879				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:174229553C>T	BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.493C>T	2.37:g.174229553C>T	ENSP00000272789:p.Pro165Ser					CDCA7_uc002uic.1_Missense_Mutation_p.P244S|CDCA7_uc010zej.1_Missense_Mutation_p.P200S|CDCA7_uc010zek.1_Missense_Mutation_p.P123S	p.P165S	NM_145810	NP_665809	Q9BWT1	CDCA7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.116)		5	624	+			165			Arg-rich.		B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Missense_Mutation	SNP	ENST00000347703.3	37	c.493C>T	CCDS2253.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321732	0.23994	.	.	ENSG00000144354	ENST00000347703;ENST00000392567;ENST00000306721;ENST00000410101;ENST00000410019	T;T;T;T;T	0.42900	1.0;0.96;0.99;0.99;1.0	5.63	4.75	0.60458	.	0.310366	0.35407	N	0.003237	T	0.33789	0.0875	L	0.39245	1.2	0.39958	D	0.97462	B;B;B;B	0.33883	0.43;0.43;0.126;0.335	B;B;B;B	0.34824	0.077;0.124;0.052;0.19	T	0.12604	-1.0541	10	0.19590	T	0.45	-7.121	12.5926	0.56451	0.0:0.9234:0.0:0.0766	.	123;200;165;244	B4DLP8;B4DV66;Q9BWT1;Q9BWT1-2	.;.;CDCA7_HUMAN;.	S	165;165;244;200;123	ENSP00000272789:P165S;ENSP00000376348:P165S;ENSP00000306968:P244S;ENSP00000386656:P200S;ENSP00000386833:P123S	ENSP00000306968:P244S	P	+	1	0	CDCA7	173937799	1.000000	0.71417	0.985000	0.45067	0.120000	0.20174	2.248000	0.43160	1.372000	0.46190	0.563000	0.77884	CCG		0.498	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255400.1	NM_031942		16	65	0	0	0	0.007413	0	16	65				
TTN	7273	broad.mit.edu	37	2	179446303	179446303	+	Missense_Mutation	SNP	C	C	G	rs200971254	byFrequency	TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr2:179446303C>G	ENST00000591111.1	-	266	61993	c.61769G>C	c.(61768-61770)cGt>cCt	p.R20590P	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R22231P|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13291P|TTN_ENST00000460472.2_Missense_Mutation_p.R13166P|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13358P|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19663P			Q8WZ42	TITIN_HUMAN	titin	20590	Fibronectin type-III 49. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R19661P(1)|p.R13291P(1)|p.R13166P(1)|p.R13358P(1)|p.R19663P(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCATACACACGGAATTGATA	0.453																																							uc010zfg.1		NA																	5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(58987-58989)CGT>CCT		titin isoform N2-A							114.0	108.0	110.0					2																	179446303		1964	4141	6105	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179446303C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.61769G>C	2.37:g.179446303C>G	ENSP00000465570:p.Arg20590Pro					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R13358P|TTN_uc010zfi.1_Missense_Mutation_p.R13291P|TTN_uc010zfj.1_Missense_Mutation_p.R13166P	p.R19663P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		265	59212	-			20590					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.58988G>C		.	.	.	.	.	.	.	.	.	.	C	15.94	2.979960	0.53827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.41	5.41	0.78517	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87549	0.6205	H	0.99454	4.575	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.92591	0.6083	9	0.87932	D	0	.	19.3887	0.94570	0.0:1.0:0.0:0.0	.	13166;13291;13358;20590	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	19663;13166;13358;13291;13164	ENSP00000343764:R19663P;ENSP00000434586:R13166P;ENSP00000340554:R13358P;ENSP00000352154:R13291P	ENSP00000340554:R13358P	R	-	2	0	TTN	179154549	1.000000	0.71417	0.977000	0.42913	0.881000	0.50899	7.604000	0.82830	2.826000	0.97356	0.655000	0.94253	CGT		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	52	0	0	0	0.016723	0	13	52				
ABCA12	26154	broad.mit.edu	37	2	215884116	215884116	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr2:215884116G>C	ENST00000272895.7	-	13	1820	c.1601C>G	c.(1600-1602)cCg>cGg	p.P534R	ABCA12_ENST00000389661.4_Missense_Mutation_p.P216R|AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	534					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.P534R(1)|p.P534L(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCTATGATCGGTATTAACTG	0.358																																					Ovarian(66;664 1488 5121 34295)	Ovarian(66;664 1488 5121 34295)	uc002vew.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(1600-1602)CCG>CGG		ATP-binding cassette, sub-family A, member 12							114.0	111.0	112.0					2																	215884116		2202	4300	6502	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215884116G>C	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1601C>G	2.37:g.215884116G>C	ENSP00000272895:p.Pro534Arg					ABCA12_uc002vev.2_Missense_Mutation_p.P216R|ABCA12_uc010zjn.1_5'UTR	p.P534R	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	13	1821	-		Renal(323;0.127)	534					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.1601C>G	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	g	6.815	0.519477	0.13005	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.51817	0.69;0.69	5.93	3.2	0.36748	.	0.271882	0.32503	N	0.006012	T	0.40423	0.1116	N	0.24115	0.695	0.23304	N	0.997947	P;P	0.50943	0.94;0.94	P;P	0.49332	0.607;0.533	T	0.24368	-1.0162	10	0.72032	D	0.01	.	9.9297	0.41514	0.2126:0.0:0.7874:0.0	.	534;216	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	R	534;216	ENSP00000272895:P534R;ENSP00000374312:P216R	ENSP00000272895:P534R	P	-	2	0	ABCA12	215592361	0.957000	0.32711	0.026000	0.17262	0.045000	0.14185	1.525000	0.35953	0.423000	0.26033	-0.735000	0.03563	CCG		0.358	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		12	59	0	0	0	0.013537	0	12	59				
GMEB2	26205	broad.mit.edu	37	20	62234350	62234350	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr20:62234350C>G	ENST00000266068.1	-	3	803	c.325G>C	c.(325-327)Gtg>Ctg	p.V109L	GMEB2_ENST00000370077.1_Missense_Mutation_p.V109L|GMEB2_ENST00000370069.1_Missense_Mutation_p.V58L			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	109	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)	p.V109L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CCGGGACACACAAACTTCCTC	0.547																																							uc002yfp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(325-327)GTG>CTG		glucocorticoid modulatory element binding							179.0	154.0	163.0					20																	62234350		2203	4300	6503	SO:0001583	missense	26205				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62234350C>G	AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.325G>C	20.37:g.62234350C>G	ENSP00000266068:p.Val109Leu					GMEB2_uc002yfo.1_Missense_Mutation_p.V31L|GMEB2_uc002yfq.1_Missense_Mutation_p.V109L	p.V109L	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		3	804	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		109			SAND.		E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Missense_Mutation	SNP	ENST00000266068.1	37	c.325G>C	CCDS13528.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.917472	0.92249	.	.	ENSG00000101216	ENST00000370069;ENST00000370077;ENST00000266068	T;T;T	0.73258	-0.73;-0.73;-0.73	4.84	4.84	0.62591	SAND domain-like (2);SAND domain (3);	0.000000	0.85682	D	0.000000	T	0.77336	0.4115	L	0.33293	1	0.58432	D	0.999995	D	0.89917	1.0	D	0.85130	0.997	T	0.76011	-0.3115	10	0.33141	T	0.24	-3.4376	17.9643	0.89096	0.0:1.0:0.0:0.0	.	109	Q9UKD1	GMEB2_HUMAN	L	58;109;109	ENSP00000359086:V58L;ENSP00000359094:V109L;ENSP00000266068:V109L	ENSP00000266068:V109L	V	-	1	0	GMEB2	61704794	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.621000	0.83083	2.216000	0.71823	0.655000	0.94253	GTG		0.547	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1	NM_012384		4	116	0	0	0	0.014758	0	4	116				
ZGPAT	84619	broad.mit.edu	37	20	62364617	62364617	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr20:62364617C>T	ENST00000328969.5	+	3	758	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	ZGPAT_ENST00000478385.1_3'UTR|RP4-583P15.15_ENST00000490623.2_Silent_p.S116S|ZGPAT_ENST00000357119.4_Nonsense_Mutation_p.Q211*|ZGPAT_ENST00000355969.6_Nonsense_Mutation_p.Q211*|ZGPAT_ENST00000369967.3_Nonsense_Mutation_p.Q211*|ZGPAT_ENST00000448100.2_Nonsense_Mutation_p.Q211*	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	211					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q211*(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCGCCCCTTCCAGGACCCAGA	0.667																																							uc002ygk.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(631-633)CAG>TAG		zinc finger, CCCH-type with G patch domain							44.0	41.0	42.0					20																	62364617		2203	4300	6503	SO:0001587	stop_gained	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62364617C>T	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.631C>T	20.37:g.62364617C>T	ENSP00000332013:p.Gln211*					ZGPAT_uc002ygi.2_Nonsense_Mutation_p.Q211*|ZGPAT_uc002ygj.2_Nonsense_Mutation_p.Q211*|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Nonsense_Mutation_p.Q211*|ZGPAT_uc002ygm.2_Nonsense_Mutation_p.Q211*|ZGPAT_uc002ygn.3_RNA|LIME1_uc011abi.1_5'Flank	p.Q211*	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN			3	809	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		211					E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Nonsense_Mutation	SNP	ENST00000328969.5	37	c.631C>T	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	C	38	6.737045	0.97801	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000369967;ENST00000328969	.	.	.	5.53	4.56	0.56223	.	0.128175	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-4.0E-4	10.4321	0.44413	0.1509:0.7038:0.1453:0.0	.	.	.	.	X	211	.	ENSP00000332013:Q211X	Q	+	1	0	ZGPAT	61835061	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.613000	0.54152	1.287000	0.44583	0.591000	0.81541	CAG		0.667	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		4	45	0	0	0	0.014758	0	4	45				
NRIP1	8204	broad.mit.edu	37	21	16338607	16338607	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr21:16338607T>C	ENST00000400202.1	-	3	2619	c.1907A>G	c.(1906-1908)cAa>cGa	p.Q636R	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_Missense_Mutation_p.Q636R|NRIP1_ENST00000318948.4_Missense_Mutation_p.Q636R			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	636	Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.Q636R(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		CATTCCACATTGTGCTAAATT	0.428																																							uc002yjx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1906-1908)CAA>CGA		nuclear receptor interacting protein 1							162.0	163.0	163.0					21																	16338607		2203	4300	6503	SO:0001583	missense	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16338607T>C	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1907A>G	21.37:g.16338607T>C	ENSP00000383063:p.Gln636Arg						p.Q636R	NM_003489	NP_003480	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	4	2505	-			636			Repression domain 2.		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	c.1907A>G	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624098	0.66901	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.23754	1.89;1.89;1.89	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	T	0.47783	0.1464	L	0.55481	1.735	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.42799	-0.9430	10	0.62326	D	0.03	-23.5379	16.2703	0.82612	0.0:0.0:0.0:1.0	.	636	P48552	NRIP1_HUMAN	R	636	ENSP00000383060:Q636R;ENSP00000383063:Q636R;ENSP00000327213:Q636R	ENSP00000327213:Q636R	Q	-	2	0	NRIP1	15260478	1.000000	0.71417	0.697000	0.30258	0.923000	0.55619	7.500000	0.81588	2.311000	0.77944	0.533000	0.62120	CAA		0.428	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		8	130	0	0	0	0.004482	0	8	130				
GTPBP1	9567	broad.mit.edu	37	22	39112766	39112766	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr22:39112766C>T	ENST00000216044.5	+	4	828	c.595C>T	c.(595-597)Cac>Tac	p.H199Y		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	199	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.H199Y(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					ACTCTTCCGCCACAAACATGA	0.562																																							uc003awg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(595-597)CAC>TAC		GTP binding protein 1							74.0	69.0	70.0					22																	39112766		2203	4300	6503	SO:0001583	missense	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39112766C>T	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.595C>T	22.37:g.39112766C>T	ENSP00000216044:p.His199Tyr						p.H199Y	NM_004286	NP_004277	O00178	GTPB1_HUMAN			4	749	+	Melanoma(58;0.04)		199					Q6IC67	Missense_Mutation	SNP	ENST00000216044.5	37	c.595C>T	CCDS13977.2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000774	0.74818	.	.	ENSG00000100226	ENST00000216044;ENST00000484657	T;T	0.70749	0.99;-0.51	5.13	5.13	0.70059	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.83626	0.5295	M	0.70842	2.15	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.84571	0.0655	10	0.52906	T	0.07	.	18.5873	0.91194	0.0:1.0:0.0:0.0	.	199	O00178	GTPB1_HUMAN	Y	199;118	ENSP00000216044:H199Y;ENSP00000442881:H118Y	ENSP00000216044:H199Y	H	+	1	0	GTPBP1	37442712	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.724000	0.84798	2.363000	0.80096	0.551000	0.68910	CAC		0.562	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		12	58	0	0	0	0.016723	0	12	58				
TUBGCP6	85378	broad.mit.edu	37	22	50660468	50660468	+	Missense_Mutation	SNP	C	C	A	rs143355923		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr22:50660468C>A	ENST00000248846.5	-	15	2577	c.2473G>T	c.(2473-2475)Gtg>Ttg	p.V825L	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.V825L			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	825					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.V825L(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGGGGGTGCACGCTCAAGAGG	0.607																																							uc003bkb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(2473-2475)GTG>TTG		tubulin, gamma complex associated protein 6							64.0	68.0	67.0					22																	50660468		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50660468C>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.2473G>T	22.37:g.50660468C>A	ENSP00000248846:p.Val825Leu					TUBGCP6_uc003bka.1_5'Flank|TUBGCP6_uc010har.1_Missense_Mutation_p.V817L|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hat.1_Missense_Mutation_p.V21L	p.V825L	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	15	2985	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	825					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.2473G>T	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372936	0.24857	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.12774	3.07;2.65	3.98	-2.49	0.06403	.	14.609800	0.00166	N	0.000007	T	0.06826	0.0174	N	0.19112	0.55	0.09310	N	1	B;B	0.20550	0.046;0.0	B;B	0.20955	0.032;0.002	T	0.16600	-1.0397	10	0.07644	T	0.81	.	0.6776	0.00869	0.1696:0.3427:0.1661:0.3216	.	817;825	B2RWN4;Q96RT7	.;GCP6_HUMAN	L	825	ENSP00000248846:V825L;ENSP00000397387:V825L	ENSP00000248846:V825L	V	-	1	0	TUBGCP6	49002595	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.143000	0.10296	-0.461000	0.06993	-0.264000	0.10439	GTG		0.607	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		10	63	1	0	3.27435e-08	0.020292	4.01045e-08	10	63				
LIMD1	8994	broad.mit.edu	37	3	45637520	45637520	+	Silent	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr3:45637520C>G	ENST00000273317.4	+	1	1170	c.1149C>G	c.(1147-1149)ctC>ctG	p.L383L	LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Silent_p.L383L	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	383					cell migration (GO:0016477)|cytoplasmic mRNA processing body assembly (GO:0033962)|cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of hippo signaling (GO:0035331)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|phosphorylation (GO:0016310)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|RISC complex (GO:0016442)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L383L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GTCCCAAGCTCAGCCCCACCA	0.617																																							uc003coq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1147-1149)CTC>CTG		LIM domains containing 1							77.0	74.0	75.0					3																	45637520		2203	4300	6503	SO:0001819	synonymous_variant	8994				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding	g.chr3:45637520C>G	AJ132408	CCDS2729.1	3p21.31	2008-02-01			ENSG00000144791	ENSG00000144791			6612	protein-coding gene	gene with protein product		604543				10647888	Standard	NM_014240		Approved		uc003coq.3	Q9UGP4	OTTHUMG00000133453	ENST00000273317.4:c.1149C>G	3.37:g.45637520C>G							p.L383L	NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)	1	1198	+			383					Q17RQ1|Q9BQQ9|Q9NQ47	Silent	SNP	ENST00000273317.4	37	c.1149C>G	CCDS2729.1																																																																																				0.617	LIMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257327.1	NM_014240		4	27	0	0	0	0.009096	0	4	27				
ROBO1	6091	broad.mit.edu	37	3	78649390	78649390	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr3:78649390C>T	ENST00000464233.1	-	30	4927	c.4814G>A	c.(4813-4815)aGc>aAc	p.S1605N	ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000495273.1_Missense_Mutation_p.S1560N|ROBO1_ENST00000467549.1_Missense_Mutation_p.S1505N|ROBO1_ENST00000436010.2_Missense_Mutation_p.S1566N	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1605					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.S1605N(1)|p.S1560N(1)|p.S1609N(1)|p.S1582N(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGACATTGAGCTTGAGGAACT	0.378																																							uc003dqe.2		NA																	4	Substitution - Missense(4)		lung(4)	large_intestine(2)	2						c.(4813-4815)AGC>AAC		roundabout 1 isoform a							163.0	151.0	155.0					3																	78649390		1883	4105	5988	SO:0001583	missense	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78649390C>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4814G>A	3.37:g.78649390C>T	ENSP00000420321:p.Ser1605Asn					ROBO1_uc003dqb.2_Missense_Mutation_p.S1566N|ROBO1_uc003dqc.2_Missense_Mutation_p.S1505N|ROBO1_uc003dqd.2_Missense_Mutation_p.S1560N|ROBO1_uc010hoh.2_Missense_Mutation_p.S797N	p.S1605N	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	30	5022	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1605			Cytoplasmic (Potential).		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	c.4814G>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081918	0.76528	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.63580	0.05;0.02;0.02;-0.05	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.68302	0.2986	L	0.27053	0.805	0.58432	D	0.999997	P;D;P;D	0.57899	0.956;0.967;0.918;0.981	B;P;B;D	0.63597	0.275;0.827;0.351;0.916	T	0.65067	-0.6258	9	.	.	.	.	19.6398	0.95753	0.0:1.0:0.0:0.0	.	1605;1560;1505;1566	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	N	1566;1560;1605;1560;1505;1609	ENSP00000406043:S1566N;ENSP00000420321:S1605N;ENSP00000420637:S1560N;ENSP00000417992:S1505N	.	S	-	2	0	ROBO1	78732080	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.457000	0.73505	2.652000	0.90054	0.555000	0.69702	AGC		0.378	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		8	81	0	0	0	0.004482	0	8	81				
TOMM70A	9868	broad.mit.edu	37	3	100093992	100093992	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr3:100093992C>T	ENST00000284320.5	-	7	1545	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	366					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)	p.R366L(1)|p.R366Q(1)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						AGCATTTGCTCGAAGCTATAT	0.398																																							uc003dtw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1096-1098)CGA>CAA		translocase of outer mitochondrial membrane 70							120.0	119.0	120.0					3																	100093992		2203	4300	6503	SO:0001583	missense	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100093992C>T	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.1097G>A	3.37:g.100093992C>T	ENSP00000284320:p.Arg366Gln						p.R366Q	NM_014820	NP_055635	O94826	TOM70_HUMAN			7	1529	-			366			Cytoplasmic (Potential).		D3DN48	Missense_Mutation	SNP	ENST00000284320.5	37	c.1097G>A	CCDS33807.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506431	0.85282	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.59502	0.26	5.76	4.88	0.63580	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.234702	0.44097	N	0.000492	T	0.72581	0.3478	M	0.73372	2.23	0.58432	D	0.999999	D	0.76494	0.999	D	0.65684	0.937	T	0.73036	-0.4109	10	0.38643	T	0.18	-3.8615	14.8892	0.70594	0.0:0.9311:0.0:0.0689	.	366	O94826	TOM70_HUMAN	Q	366;259	ENSP00000284320:R366Q	ENSP00000284320:R366Q	R	-	2	0	TOMM70A	101576682	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	3.076000	0.50081	1.436000	0.47453	0.561000	0.74099	CGA		0.398	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2			7	142	0	0	0	0.001984	0	7	142				
PLSCR2	57047	broad.mit.edu	37	3	146166994	146166994	+	Splice_Site	SNP	A	A	G	rs550593565		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr3:146166994A>G	ENST00000497985.1	-	8	1302	c.863T>C	c.(862-864)aTt>aCt	p.I288T	PLSCR2_ENST00000336685.2_Splice_Site_p.I215T	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	288					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)	p.I288T(1)|p.I215T(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TAGACTTACAATGAGGAAACA	0.353													A|||	1	0.000199681	0.0	0.0	5008	,	,		15577	0.0		0.0	False		,,,				2504	0.001						uc003evv.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(643-645)ATT>ACT		phospholipid scramblase 2							161.0	157.0	158.0					3																	146166994		2203	4300	6503	SO:0001630	splice_region_variant	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146166994A>G		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.864+1T>C	3.37:g.146166994A>G						PLSCR2_uc003evw.1_Missense_Mutation_p.I284T	p.I215T	NM_020359	NP_065092	Q9NRY7	PLS2_HUMAN			7	977	-			215			Helical; (Potential).		B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	ENST00000497985.1	37	c.644T>C	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	.	17.14	3.313527	0.60414	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985	T;T	0.37752	1.18;1.18	3.44	3.44	0.39384	.	0.159187	0.21782	U	0.069183	T	0.67477	0.2897	H	0.94734	3.575	0.45822	D	0.998698	D;D	0.67145	0.992;0.996	D;D	0.70487	0.969;0.942	T	0.77091	-0.2716	10	0.87932	D	0	.	12.3742	0.55271	1.0:0.0:0.0:0.0	.	308;215	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	T	215;307;288	ENSP00000338707:I215T;ENSP00000420132:I288T	ENSP00000338707:I215T	I	-	2	0	PLSCR2	147649684	0.998000	0.40836	0.997000	0.53966	0.769000	0.43574	8.593000	0.90832	1.547000	0.49401	0.460000	0.39030	ATT		0.353	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359	Missense_Mutation	8	93	0	0	0	0.004482	0	8	93				
PLSCR2	57047	broad.mit.edu	37	3	146167007	146167007	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr3:146167007C>G	ENST00000497985.1	-	8	1289	c.850G>C	c.(850-852)Gcc>Ccc	p.A284P	PLSCR2_ENST00000336685.2_Missense_Mutation_p.A211P	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	284					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)	p.A284P(1)|p.A211P(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						AGGAAACAGGCACCAATCATC	0.368																																							uc003evv.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(631-633)GCC>CCC		phospholipid scramblase 2							167.0	164.0	165.0					3																	146167007		2203	4300	6503	SO:0001583	missense	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146167007C>G		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.850G>C	3.37:g.146167007C>G	ENSP00000420132:p.Ala284Pro					PLSCR2_uc003evw.1_Missense_Mutation_p.A280P	p.A211P	NM_020359	NP_065092	Q9NRY7	PLS2_HUMAN			7	964	-			211			Helical; (Potential).		B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	ENST00000497985.1	37	c.631G>C	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	.	15.73	2.921078	0.52653	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985	T;T	0.26373	1.74;1.74	3.44	1.39	0.22231	.	0.165226	0.21213	U	0.078280	T	0.58750	0.2144	H	0.97051	3.93	0.37622	D	0.921326	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.63065	-0.6720	10	0.87932	D	0	.	6.7146	0.23296	0.1697:0.7258:0.0:0.1045	.	304;211	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	P	211;303;284	ENSP00000338707:A211P;ENSP00000420132:A284P	ENSP00000338707:A211P	A	-	1	0	PLSCR2	147649697	0.991000	0.36638	0.009000	0.14445	0.812000	0.45895	2.886000	0.48578	0.169000	0.19679	0.563000	0.77884	GCC		0.368	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359		11	106	0	0	0	0.008291	0	11	106				
PHC3	80012	broad.mit.edu	37	3	169840403	169840403	+	Missense_Mutation	SNP	A	A	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr3:169840403A>C	ENST00000494943.1	-	9	1950	c.1882T>G	c.(1882-1884)Ttg>Gtg	p.L628V	PHC3_ENST00000467570.1_Missense_Mutation_p.L587V|PHC3_ENST00000495893.2_Missense_Mutation_p.L640V			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	628	Pro-rich.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L640V(1)|p.L609V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TCAGAAGTCAAATCTTCTCCT	0.388																																							uc010hws.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1882-1884)TTG>GTG		polyhomeotic like 3							120.0	114.0	116.0					3																	169840403		1870	4106	5976	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169840403A>C		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.1882T>G	3.37:g.169840403A>C	ENSP00000420271:p.Leu628Val					PHC3_uc003fgl.2_Missense_Mutation_p.L640V|PHC3_uc011bpq.1_Missense_Mutation_p.L587V	p.L628V	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		9	1946	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		628			Pro-rich.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.1882T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.42|15.42	2.827552|2.827552	0.50845|0.50845	.|.	.|.	ENSG00000173889|ENSG00000173889	ENST00000486042|ENST00000494943;ENST00000495893;ENST00000467570	.|T;T	.|0.32023	.|1.48;1.47	6.02|6.02	-6.6|-6.6	0.01824|0.01824	.|.	.|0.120691	.|0.32578	.|N	.|0.005911	T|T	0.16342|0.16342	0.0393|0.0393	L|L	0.34521|0.34521	1.04|1.04	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B;B	.|0.15930	.|0.015;0.009;0.015	.|B;B;B	.|0.20184	.|0.028;0.007;0.016	T|T	0.04723|0.04723	-1.0931|-1.0931	5|10	.|0.25751	.|T	.|0.34	-0.9692|-0.9692	9.1762|9.1762	0.37114|0.37114	0.149:0.1118:0.6289:0.1103|0.149:0.1118:0.6289:0.1103	.|.	.|587;628;640	.|E7EX82;Q8NDX5;Q8NDX5-7	.|.;PHC3_HUMAN;.	C|V	101|628;640;587	.|ENSP00000420271:L628V;ENSP00000420294:L640V	.|ENSP00000419089:L587V	F|L	-|-	2|1	0|2	PHC3|PHC3	171323097|171323097	0.008000|0.008000	0.16893|0.16893	0.139000|0.139000	0.22197|0.22197	0.801000|0.801000	0.45260|0.45260	-0.043000|-0.043000	0.12043|0.12043	-1.255000|-1.255000	0.02481|0.02481	-0.256000|-0.256000	0.11100|0.11100	TTT|TTG		0.388	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		15	80	0	0	0	0.006122	0	15	80				
TTC14	151613	broad.mit.edu	37	3	180327734	180327734	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr3:180327734G>A	ENST00000296015.4	+	12	1849	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K	TTC14_ENST00000382584.4_Missense_Mutation_p.E573K|TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	573							RNA binding (GO:0003723)	p.E573K(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACAGATAAAAGAGAAAGATAG	0.373																																							uc003fkk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1717-1719)GAG>AAG		tetratricopeptide repeat domain 14 isoform a							138.0	159.0	152.0					3																	180327734		2203	4297	6500	SO:0001583	missense	151613						RNA binding	g.chr3:180327734G>A	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.1717G>A	3.37:g.180327734G>A	ENSP00000296015:p.Glu573Lys					TTC14_uc003fkl.2_3'UTR|TTC14_uc003fkm.2_Missense_Mutation_p.E573K	p.E573K	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		12	1849	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		573					G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.1717G>A	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721743	0.48728	.	.	ENSG00000163728	ENST00000296015;ENST00000382584	T;T	0.51325	0.71;0.71	5.92	5.92	0.95590	.	0.349980	0.32852	N	0.005573	T	0.46639	0.1403	L	0.32530	0.975	0.80722	D	1	P;D	0.59357	0.775;0.985	B;P	0.53518	0.306;0.728	T	0.25328	-1.0135	10	0.29301	T	0.29	-18.073	10.6369	0.45571	0.1417:0.0:0.8583:0.0	.	573;573	Q96N46-2;Q96N46	.;TTC14_HUMAN	K	573	ENSP00000296015:E573K;ENSP00000372027:E573K	ENSP00000296015:E573K	E	+	1	0	TTC14	181810428	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	4.574000	0.60900	2.795000	0.96236	0.655000	0.94253	GAG		0.373	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462		31	265	0	0	0	0.015359	0	31	265				
POLR2H	5437	broad.mit.edu	37	3	184081293	184081293	+	Silent	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr3:184081293C>T	ENST00000456318.1	+	2	1062	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	CLCN2_ENST00000265593.4_5'Flank|CLCN2_ENST00000434054.2_5'Flank|POLR2H_ENST00000430783.1_Silent_p.L5L|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_5'Flank|CLCN2_ENST00000344937.7_5'Flank|CLCN2_ENST00000423355.2_5'Flank|POLR2H_ENST00000443489.1_5'UTR|POLR2H_ENST00000296223.3_Silent_p.L5L|POLR2H_ENST00000452961.1_5'UTR|POLR2H_ENST00000438240.1_Intron|POLR2H_ENST00000429568.1_Silent_p.L5L	NM_001278699.1	NP_001265628.1	P52434	RPAB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide H	5					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.L5L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCGGGCATCCTGTTTGAGGA	0.572											OREG0015950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003fok.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(13-15)CTG>TTG		RNA polymerase II, polypeptide H							81.0	74.0	76.0					3																	184081293		2203	4300	6503	SO:0001819	synonymous_variant	5437				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr3:184081293C>T		CCDS3264.1, CCDS63861.1, CCDS63862.1, CCDS63859.1, CCDS63860.1	3q28	2013-01-21			ENSG00000163882	ENSG00000163882		"""RNA polymerase subunits"""	9195	protein-coding gene	gene with protein product		606023					Standard	NM_001278698		Approved	RPB8	uc003fok.2	P52434	OTTHUMG00000156746	ENST00000456318.1:c.13C>T	3.37:g.184081293C>T			OREG0015950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1989	CLCN2_uc003foi.2_5'Flank|CLCN2_uc010hya.1_5'Flank|CLCN2_uc011brl.1_5'Flank|CLCN2_uc011brm.1_5'Flank|CLCN2_uc011brn.1_5'Flank|POLR2H_uc003foj.1_RNA	p.L5L	NM_006232	NP_006223	P52434	RPAB3_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		1	100	+	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		5					C9J413|C9JBJ6|C9JCU7|C9JUA8|P53802|Q969R0	Silent	SNP	ENST00000456318.1	37	c.13C>T	CCDS3264.1																																																																																				0.572	POLR2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345558.1	NM_006232		14	91	0	0	0	0.003163	0	14	91				
ACOX3	8310	broad.mit.edu	37	4	8407736	8407736	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr4:8407736C>T	ENST00000356406.5	-	7	799	c.722G>A	c.(721-723)gGa>gAa	p.G241E	ACOX3_ENST00000413009.2_Missense_Mutation_p.G241E|ACOX3_ENST00000503233.1_Missense_Mutation_p.G241E	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	241					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.G241E(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AACCATCACTCCAGGCATGGG	0.498																																							uc010idk.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(721-723)GGA>GAA		acyl-Coenzyme A oxidase 3 isoform a							174.0	170.0	171.0					4																	8407736		2203	4300	6503	SO:0001583	missense	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8407736C>T	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.722G>A	4.37:g.8407736C>T	ENSP00000348775:p.Gly241Glu					ACOX3_uc003glc.3_Missense_Mutation_p.G241E|ACOX3_uc003gld.3_Missense_Mutation_p.G241E|ACOX3_uc003gle.1_Missense_Mutation_p.G146E	p.G241E	NM_003501	NP_003492	O15254	ACOX3_HUMAN			7	867	-			241					Q96AJ8	Missense_Mutation	SNP	ENST00000356406.5	37	c.722G>A	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.563272	0.65538	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	T;T;T	0.75477	-0.94;-0.94;-0.94	4.5	4.5	0.54988	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.91593	0.7344	H	0.98507	4.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	D	0.94779	0.7952	10	0.87932	D	0	-36.7756	16.4745	0.84128	0.0:1.0:0.0:0.0	.	241;241;241	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	E	241	ENSP00000413994:G241E;ENSP00000348775:G241E;ENSP00000421625:G241E	ENSP00000348775:G241E	G	-	2	0	ACOX3	8458636	1.000000	0.71417	0.976000	0.42696	0.285000	0.27093	6.619000	0.74219	2.489000	0.83994	0.467000	0.42956	GGA		0.498	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			32	280	0	0	0	0.019004	0	32	280				
GRXCR1	389207	broad.mit.edu	37	4	42895466	42895466	+	Silent	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr4:42895466G>A	ENST00000399770.2	+	1	183	c.183G>A	c.(181-183)caG>caA	p.Q61Q	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	61					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CCGATGGACAGCAGAATGGCC	0.483																																							uc003gwt.2		NA																	0				ovary(1)	1						c.(181-183)CAG>CAA		glutaredoxin, cysteine rich 1							175.0	181.0	179.0					4																	42895466		2033	4205	6238	SO:0001819	synonymous_variant	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42895466G>A		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.183G>A	4.37:g.42895466G>A							p.Q61Q	NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN			1	183	+			61						Silent	SNP	ENST00000399770.2	37	c.183G>A	CCDS43225.1																																																																																				0.483	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		5	284	0	0	0	0.014758	0	5	284				
LRRC66	339977	broad.mit.edu	37	4	52860582	52860582	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr4:52860582G>T	ENST00000343457.3	-	4	2612	c.2606C>A	c.(2605-2607)gCt>gAt	p.A869D		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	869						integral component of membrane (GO:0016021)		p.A869D(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATGGAAGGCAGCCTTATCAGG	0.373																																							uc003gzi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2605-2607)GCT>GAT		leucine rich repeat containing 66							83.0	77.0	79.0					4																	52860582		1854	4096	5950	SO:0001583	missense	339977					integral to membrane		g.chr4:52860582G>T	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2606C>A	4.37:g.52860582G>T	ENSP00000341944:p.Ala869Asp						p.A869D	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	2619	-			869						Missense_Mutation	SNP	ENST00000343457.3	37	c.2606C>A	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	G	6.216	0.407914	0.11754	.	.	ENSG00000188993	ENST00000343457	T	0.27557	1.66	3.9	-1.01	0.10169	.	1.794670	0.02447	N	0.085166	T	0.18882	0.0453	N	0.14661	0.345	0.09310	N	1	B	0.24317	0.101	B	0.17722	0.019	T	0.21552	-1.0242	10	0.48119	T	0.1	3.5083	6.1341	0.20221	0.0:0.311:0.4914:0.1977	.	869	Q68CR7	LRC66_HUMAN	D	869	ENSP00000341944:A869D	ENSP00000341944:A869D	A	-	2	0	LRRC66	52555339	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.315000	0.08081	-0.267000	0.09325	-0.165000	0.13383	GCT		0.373	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		4	57	1	0	1.23904e-05	0.014758	1.45014e-05	4	57				
TMPRSS11D	9407	broad.mit.edu	37	4	68691511	68691511	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr4:68691511C>T	ENST00000283916.6	-	9	1132	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.G228E	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	345	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.G345E(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CAAGATGGCTCCATTATAACT	0.438																																							uc003hdq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1033-1035)GGA>GAA		transmembrane protease, serine 11D							177.0	149.0	158.0					4																	68691511		2203	4300	6503	SO:0001583	missense	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68691511C>T	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.1034G>A	4.37:g.68691511C>T	ENSP00000283916:p.Gly345Glu					LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_Missense_Mutation_p.G126E|TMPRSS11D_uc011caj.1_Missense_Mutation_p.G228E	p.G345E	NM_004262	NP_004253	O60235	TM11D_HUMAN			9	1099	-			345			Peptidase S1.|Extracellular (Potential).		Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	c.1034G>A	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872553	0.72180	.	.	ENSG00000153802	ENST00000283916;ENST00000545541	D;D	0.88975	-2.45;-2.45	5.78	5.78	0.91487	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	D	0.000021	D	0.91321	0.7263	L	0.43554	1.36	0.44207	D	0.997031	D	0.89917	1.0	D	0.83275	0.996	D	0.91030	0.4863	10	0.62326	D	0.03	.	10.8733	0.46896	0.0:0.915:0.0:0.085	.	345	O60235	TM11D_HUMAN	E	345;228	ENSP00000283916:G345E;ENSP00000442045:G228E	ENSP00000283916:G345E	G	-	2	0	TMPRSS11D	68374106	0.949000	0.32298	0.580000	0.28601	0.029000	0.11900	3.088000	0.50175	2.732000	0.93576	0.555000	0.69702	GGA		0.438	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		4	70	0	0	0	0.009096	0	4	70				
ETNPPL	64850	broad.mit.edu	37	4	109665008	109665008	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr4:109665008T>A	ENST00000296486.3	-	12	1462	c.1308A>T	c.(1306-1308)ttA>ttT	p.L436F	ETNPPL_ENST00000510706.1_Missense_Mutation_p.L396F|ETNPPL_ENST00000512646.1_Missense_Mutation_p.L378F|ETNPPL_ENST00000411864.2_Missense_Mutation_p.L430F	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	436						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.L436F(1)									TAGCTTCTTCTAAAACTGAAT	0.338																																							uc003hzc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1306-1308)TTA>TTT		alanine-glyoxylate aminotransferase 2-like 1							84.0	86.0	85.0					4																	109665008		2203	4300	6503	SO:0001583	missense	64850				cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr4:109665008T>A	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1308A>T	4.37:g.109665008T>A	ENSP00000296486:p.Leu436Phe					AGXT2L1_uc010imc.2_Missense_Mutation_p.L430F|AGXT2L1_uc011cfm.1_Missense_Mutation_p.L396F|AGXT2L1_uc011cfn.1_Missense_Mutation_p.L363F|AGXT2L1_uc011cfo.1_Missense_Mutation_p.L378F	p.L436F	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000281)	12	1489	-			436					B7Z1Y0|E9PBY0|Q9H174	Missense_Mutation	SNP	ENST00000296486.3	37	c.1308A>T	CCDS3682.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.175261	0.38413	.	.	ENSG00000164089	ENST00000296486;ENST00000411864;ENST00000512646;ENST00000510706	D;T;D;D	0.87103	-1.86;-1.4;-2.21;-1.8	5.65	3.23	0.37069	Pyridoxal phosphate-dependent transferase, major domain (1);	0.412765	0.23768	N	0.044757	D	0.82472	0.5044	L	0.55017	1.72	0.41280	D	0.986908	B;B;B	0.28233	0.107;0.172;0.204	B;B;B	0.32289	0.03;0.143;0.062	T	0.73655	-0.3914	9	.	.	.	-2.4687	7.901	0.29734	0.0:0.1646:0.0:0.8354	.	378;430;436	E9PBY0;Q8TBG4-2;Q8TBG4	.;.;AT2L1_HUMAN	F	436;430;378;396	ENSP00000296486:L436F;ENSP00000392269:L430F;ENSP00000427065:L378F;ENSP00000423240:L396F	.	L	-	3	2	AGXT2L1	109884457	0.999000	0.42202	0.967000	0.41034	0.743000	0.42351	0.177000	0.16801	0.434000	0.26340	0.533000	0.62120	TTA		0.338	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		6	57	0	0	0	0.001984	0	6	57				
ZNF827	152485	broad.mit.edu	37	4	146791527	146791527	+	Silent	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr4:146791527G>A	ENST00000508784.1	-	5	2078	c.1851C>T	c.(1849-1851)ttC>ttT	p.F617F	ZNF827_ENST00000379448.4_Silent_p.F617F|ZNF827_ENST00000511534.1_5'UTR|ZNF827_ENST00000513320.1_Silent_p.F267F			Q17R98	ZN827_HUMAN	zinc finger protein 827	617					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.F617F(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ATTCCGGGCTGAACACATAGC	0.522																																							uc003ikn.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1849-1851)TTC>TTT		zinc finger protein 827							101.0	101.0	101.0					4																	146791527		2203	4300	6503	SO:0001819	synonymous_variant	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146791527G>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1851C>T	4.37:g.146791527G>A						ZNF827_uc003ikm.2_Silent_p.F617F|ZNF827_uc010iox.2_Silent_p.F267F	p.F617F	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			5	1899	-	all_hematologic(180;0.151)		617					B7ZL52|Q7Z4S7|Q8N279	Silent	SNP	ENST00000508784.1	37	c.1851C>T																																																																																					0.522	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		7	104	0	0	0	0.004482	0	7	104				
ARHGAP10	79658	broad.mit.edu	37	4	148796218	148796218	+	Missense_Mutation	SNP	T	T	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr4:148796218T>C	ENST00000336498.3	+	8	988	c.749T>C	c.(748-750)aTg>aCg	p.M250T		NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.M250T(1)		autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GAAGAGCTCATGAACAAAATC	0.418																																							uc003ilf.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|pancreas(1)|lung(1)	4						c.(748-750)ATG>ACG		Rho GTPase activating protein 10							108.0	103.0	105.0					4																	148796218		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148796218T>C	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.749T>C	4.37:g.148796218T>C	ENSP00000336923:p.Met250Thr						p.M250T	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	8	749	+	all_hematologic(180;0.151)	Renal(17;0.0166)	250			BAR.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.749T>C	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.587423	0.46110	.	.	ENSG00000071205	ENST00000336498	T	0.04234	3.67	4.85	3.64	0.41730	.	0.121554	0.85682	D	0.000000	T	0.07683	0.0193	M	0.80422	2.495	0.80722	D	1	P	0.42827	0.791	B	0.32677	0.15	T	0.09662	-1.0664	10	0.87932	D	0	.	11.5965	0.50977	0.0:0.0:0.1495:0.8504	.	250	A1A4S6	RHG10_HUMAN	T	250	ENSP00000336923:M250T	ENSP00000336923:M250T	M	+	2	0	ARHGAP10	149015668	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	7.390000	0.79816	0.770000	0.33336	0.528000	0.53228	ATG		0.418	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		3	31	0	0	0	0.004672	0	3	31				
FRG1	2483	broad.mit.edu	37	4	190878596	190878596	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr4:190878596G>A	ENST00000226798.4	+	6	698	c.476G>A	c.(475-477)tGc>tAc	p.C159Y	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	159					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.C159Y(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TTTATTAGATGCAATGAAGCA	0.368																																							uc003izs.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(475-477)TGC>TAC		FSHD region gene 1							24.0	26.0	25.0					4																	190878596		2173	4277	6450	SO:0001583	missense	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878596G>A	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.476G>A	4.37:g.190878596G>A	ENSP00000226798:p.Cys159Tyr						p.C159Y	NM_004477	NP_004468	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	667	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	159					A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	c.476G>A	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	9.077	0.998266	0.19043	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	T;T	0.42900	2.03;0.96	4.19	4.19	0.49359	Actin cross-linking (1);	0.048605	0.85682	D	0.000000	T	0.32912	0.0845	N	0.13140	0.3	0.44745	D	0.997744	P	0.42357	0.777	P	0.46850	0.529	T	0.07501	-1.0769	10	0.22706	T	0.39	-19.1697	14.4711	0.67517	0.0:0.0:1.0:0.0	.	159	Q14331	FRG1_HUMAN	Y	159;31;96	ENSP00000226798:C159Y;ENSP00000435943:C96Y	ENSP00000226798:C159Y	C	+	2	0	FRG1	191115590	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	6.069000	0.71209	2.063000	0.61619	0.454000	0.30748	TGC		0.368	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		3	21	0	0	0	0.014758	0	3	21				
PARP8	79668	broad.mit.edu	37	5	50111358	50111358	+	Splice_Site	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr5:50111358G>A	ENST00000281631.5	+	15	1826	c.1668G>A	c.(1666-1668)caG>caA	p.Q556Q	PARP8_ENST00000503750.2_Splice_Site_p.Q556Q|PARP8_ENST00000505554.1_Splice_Site_p.Q535Q|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Splice_Site_p.Q556Q|PARP8_ENST00000514067.2_Splice_Site_p.Q556Q|PARP8_ENST00000514342.2_Splice_Site_p.Q309Q	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	556						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.Q556Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CTGGAGCTCAGGTAGTAACAC	0.378																																							uc003jon.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(3)|large_intestine(1)|ovary(1)	5						c.(1666-1668)CAG>CAA		poly (ADP-ribose) polymerase family, member 8							98.0	88.0	92.0					5																	50111358		2203	4300	6503	SO:0001630	splice_region_variant	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50111358G>A	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.1668+1G>A	5.37:g.50111358G>A						PARP8_uc011cpz.1_Silent_p.Q448Q|PARP8_uc003joo.2_Silent_p.Q556Q|PARP8_uc003jop.2_Silent_p.Q556Q	p.Q556Q	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN			16	1850	+		Lung NSC(810;0.0305)|Breast(144;0.222)	556					Q3KRB7|Q6DHZ1|Q9H754	Silent	SNP	ENST00000281631.5	37	c.1668G>A	CCDS3954.1																																																																																				0.378	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3	NM_024615	Silent	3	37	0	0	0	0.004672	0	3	37				
ACSL6	23305	broad.mit.edu	37	5	131309043	131309043	+	Silent	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr5:131309043G>A	ENST00000379240.1	-	12	1197	c.1044C>T	c.(1042-1044)atC>atT	p.I348I	ACSL6_ENST00000379244.1_Silent_p.I348I|ACSL6_ENST00000379255.1_Silent_p.I273I|ACSL6_ENST00000296869.4_Silent_p.I373I|ACSL6_ENST00000379249.3_Silent_p.I348I|ACSL6_ENST00000379264.2_Silent_p.I373I|ACSL6_ENST00000431707.1_Silent_p.I328I|ACSL6_ENST00000379246.1_Silent_p.I359I|ACSL6_ENST00000357096.1_Silent_p.I273I|ACSL6_ENST00000379272.2_Silent_p.I363I|ACSL6_ENST00000543479.1_Silent_p.I348I|ACSL6_ENST00000544770.1_Silent_p.I257I			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	348					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)	p.I373I(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGAGAAGGCGGATATCTCCCT	0.547																																							uc010jdo.1		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1042-1044)ATC>ATT		acyl-CoA synthetase long-chain family member 6							108.0	92.0	98.0					5																	131309043		2203	4300	6503	SO:0001819	synonymous_variant	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131309043G>A	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1044C>T	5.37:g.131309043G>A						ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Silent_p.I373I|ACSL6_uc003kvy.1_Silent_p.I373I|ACSL6_uc003kwb.2_Silent_p.I338I|ACSL6_uc003kvz.1_Silent_p.I273I|ACSL6_uc003kwa.1_Silent_p.I359I|ACSL6_uc003kvw.1_5'UTR|ACSL6_uc010jdn.1_Silent_p.I363I|ACSL6_uc010jdp.1_RNA	p.I348I	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	1127	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	348			Cytoplasmic (Potential).		J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Silent	SNP	ENST00000379240.1	37	c.1044C>T																																																																																					0.547	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		6	35	0	0	0	0.001984	0	6	35				
PCDHA6	56142	broad.mit.edu	37	5	140208743	140208743	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr5:140208743C>T	ENST00000529310.1	+	1	1181	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.S356F|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	356	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S356F(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTCCTTATCCTTGCCTGTA	0.498																																							uc003lho.2		NA																	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(1066-1068)TCC>TTC		protocadherin alpha 6 isoform 1 precursor							103.0	101.0	101.0					5																	140208743		2202	4280	6482	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140208743C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1067C>T	5.37:g.140208743C>T	ENSP00000433378:p.Ser356Phe					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.S356F|PCDHA6_uc011dab.1_Missense_Mutation_p.S356F	p.S356F	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1094	+			356			Cadherin 4.|Extracellular (Potential).		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1067C>T	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	1.040	-0.679041	0.03378	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.02709	4.19;4.19	3.7	2.81	0.32909	Cadherin (2);Cadherin-like (1);	0.000000	0.36101	U	0.002794	T	0.04861	0.0131	M	0.68317	2.08	0.09310	N	1	B;B;P	0.42296	0.332;0.136;0.775	B;B;B	0.42827	0.232;0.262;0.399	T	0.28839	-1.0031	10	0.31617	T	0.26	.	8.6754	0.34176	0.1722:0.6614:0.1665:0.0	.	356;356;356	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	F	356	ENSP00000433378:S356F;ENSP00000434113:S356F	ENSP00000434113:S356F	S	+	2	0	PCDHA6	140188927	0.000000	0.05858	0.049000	0.19019	0.129000	0.20672	0.871000	0.28023	0.861000	0.35504	0.313000	0.20887	TCC		0.498	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		9	150	0	0	0	0.020292	0	9	150				
HIST1H1E	3008	broad.mit.edu	37	6	26156807	26156807	+	Silent	SNP	G	G	A	rs535188796		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr6:26156807G>A	ENST00000304218.3	+	1	249	c.189G>A	c.(187-189)aaG>aaA	p.K63K	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	63	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.K63K(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CCGCTCTCAAGAAAGCGCTGG	0.617													G|||	0	0.0	0.0	0.0	5008	,	,		14738	0.0		0.0	False		,,,				2504	0.0						uc003ngq.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(187-189)AAG>AAA		histone cluster 1, H1e							33.0	36.0	35.0					6																	26156807		2203	4300	6503	SO:0001819	synonymous_variant	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156807G>A	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.189G>A	6.37:g.26156807G>A						HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	p.K63K	NM_005321	NP_005312	P10412	H14_HUMAN			1	249	+			63			H15.		Q4VB25	Silent	SNP	ENST00000304218.3	37	c.189G>A	CCDS4586.1																																																																																				0.617	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		7	59	0	0	0	0.001984	0	7	59				
C6orf136	221545	broad.mit.edu	37	6	30619243	30619243	+	Splice_Site	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr6:30619243G>A	ENST00000376473.5	+	4	923	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	C6orf136_ENST00000376471.4_Splice_Site_p.R121Q|C6orf136_ENST00000528347.2_Splice_Site_p.R112Q|AL662800.2_ENST00000583820.1_RNA|C6orf136_ENST00000293604.6_Splice_Site_p.R436Q	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	255						mitochondrion (GO:0005739)		p.R112Q(1)|p.R436Q(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GAGCATTACCGGTAAGAGAGA	0.502																																							uc003nqw.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(763-765)CGG>CAG		hypothetical protein LOC221545 isoform 1							86.0	100.0	95.0					6																	30619243		2203	4300	6503	SO:0001630	splice_region_variant	221545							g.chr6:30619243G>A	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.764+1G>A	6.37:g.30619243G>A						C6orf136_uc003nqx.3_Missense_Mutation_p.R436Q|C6orf136_uc011dmn.1_Missense_Mutation_p.R121Q	p.R255Q	NM_001109938	NP_001103408	Q5SQH8	CF136_HUMAN			4	957	+			255					A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	ENST00000376473.5	37	c.764G>A	CCDS43443.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.168299|4.168299	0.78339|0.78339	.|.	.|.	ENSG00000204564|ENSG00000204564	ENST00000468785|ENST00000293604;ENST00000376473;ENST00000376471;ENST00000446773;ENST00000528347;ENST00000465699;ENST00000467801	.|.	.|.	.|.	4.9|4.9	4.03|4.03	0.46877|0.46877	.|.	0.112986|0.112986	0.56097|0.56097	D|N	0.000025|0.000025	T|T	0.60051|0.60051	0.2239|0.2239	M|M	0.63843|0.63843	1.955|1.955	0.41843|0.41843	D|D	0.990138|0.990138	.|D;P;D	.|0.89917	.|0.996;0.862;1.0	.|P;B;D	.|0.71184	.|0.878;0.242;0.972	T|T	0.60209|0.60209	-0.7308|-0.7308	7|9	0.87932|0.33141	D|T	0|0.24	-13.3412|-13.3412	10.9639|10.9639	0.47401|0.47401	0.0888:0.0:0.9112:0.0|0.0888:0.0:0.9112:0.0	.|.	.|121;436;255	.|A9R9P9;F8VX15;Q5SQH8	.|.;.;CF136_HUMAN	H|Q	28|436;255;121;373;112;77;68	.|.	ENSP00000419460:R28H|ENSP00000293604:R436Q	R|R	+|+	2|2	0|0	C6orf136|C6orf136	30727222|30727222	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.980000|0.980000	0.70556|0.70556	3.554000|3.554000	0.53720|0.53720	1.418000|1.418000	0.47098|0.47098	0.655000|0.655000	0.94253|0.94253	CGC|CGG		0.502	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	NM_145029	Missense_Mutation	4	198	0	0	0	0.009096	0	4	198				
GSTA1	2938	broad.mit.edu	37	6	52657701	52657701	+	Missense_Mutation	SNP	C	C	T	rs201803852		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr6:52657701C>T	ENST00000334575.5	-	6	654	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	167	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.V167I(1)		large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	AGCTCCTCGACGTAGTAGAGA	0.532																																							uc003paz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(499-501)GTC>ATC		glutathione S-transferase alpha 1	Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	C	ILE/VAL	0,4406		0,0,2203	172.0	155.0	161.0		499	0.5	0.0	6		161	1,8599		0,1,4299	no	missense	GSTA1	NM_145740.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	167/223	52657701	1,13005	2203	4300	6503	SO:0001583	missense	2938				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52657701C>T		CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4626	protein-coding gene	gene with protein product		138359	"""glutathione S-transferase A1"""			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.499G>A	6.37:g.52657701C>T	ENSP00000335620:p.Val167Ile						p.V167I	NM_145740	NP_665683	P08263	GSTA1_HUMAN			6	611	-	Lung NSC(77;0.118)		167			GST C-terminal.		Q14750|Q5GHF8|Q5SZC1	Missense_Mutation	SNP	ENST00000334575.5	37	c.499G>A	CCDS4945.1	.	.	.	.	.	.	.	.	.	.	.	7.711	0.695219	0.15039	0.0	1.16E-4	ENSG00000243955	ENST00000334575	T	0.02140	4.43	2.43	0.457	0.16661	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.482604	0.20383	N	0.093409	T	0.01029	0.0034	M	0.63428	1.95	0.09310	N	1	B	0.16396	0.017	B	0.23419	0.046	T	0.43196	-0.9406	10	0.48119	T	0.1	.	6.6631	0.23024	0.0:0.4007:0.0:0.5993	.	167	P08263	GSTA1_HUMAN	I	167	ENSP00000335620:V167I	ENSP00000335620:V167I	V	-	1	0	GSTA1	52765660	0.000000	0.05858	0.007000	0.13788	0.098000	0.18820	-0.433000	0.06948	-0.250000	0.09555	0.195000	0.17529	GTC		0.532	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1			13	211	0	0	0	0.013537	0	13	211				
CEP85L	387119	broad.mit.edu	37	6	118887202	118887202	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr6:118887202C>A	ENST00000368491.3	-	3	1131	c.510G>T	c.(508-510)caG>caT	p.Q170H	CEP85L_ENST00000392500.3_Missense_Mutation_p.Q173H|CEP85L_ENST00000419517.2_Missense_Mutation_p.Q170H|CEP85L_ENST00000472713.1_5'UTR|CEP85L_ENST00000368488.5_Missense_Mutation_p.Q173H|CEP85L_ENST00000360290.3_Missense_Mutation_p.Q68H	NM_001042475.2	NP_001035940.1	Q5SZL2	CE85L_HUMAN	centrosomal protein 85kDa-like	170						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.Q170H(1)									CAGTGCCACCCTGGCCACAGT	0.507																																							uc003pxz.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(508-510)CAG>CAT		chromosome 6 open reading frame 204 isoform a							134.0	124.0	127.0					6																	118887202		2203	4300	6503	SO:0001583	missense	387119					centrosome		g.chr6:118887202C>A	AF308284	CCDS5119.2, CCDS43498.1, CCDS55052.1	6q22.31	2011-11-25	2011-11-25	2011-11-25	ENSG00000111860	ENSG00000111860			21638	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 204"""	C6orf204			Standard	NM_206921		Approved	NY-BR-15, bA57K17.2	uc003pya.2	Q5SZL2	OTTHUMG00000015465	ENST00000368491.3:c.510G>T	6.37:g.118887202C>A	ENSP00000357477:p.Gln170His					C6orf204_uc003pya.1_Missense_Mutation_p.Q173H|C6orf204_uc003pyb.2_Missense_Mutation_p.Q170H|C6orf204_uc011ebj.1_Missense_Mutation_p.Q68H|C6orf204_uc003pyc.2_Missense_Mutation_p.Q173H|C6orf204_uc011ebl.1_Missense_Mutation_p.Q68H	p.Q170H	NM_001042475	NP_001035940	Q5SZL2	CF204_HUMAN		GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618)	3	1098	-		all_cancers(87;0.0814)|all_epithelial(87;0.115)	170					A1A4E1|A2A3P2|A2IDE5|F8W6J2|G3V0H3|Q2TAM2|Q5T323|Q7Z5K7|Q9H289	Missense_Mutation	SNP	ENST00000368491.3	37	c.510G>T	CCDS43498.1	.	.	.	.	.	.	.	.	.	.	C	6.246	0.413506	0.11812	.	.	ENSG00000111860	ENST00000368491;ENST00000368488;ENST00000434604;ENST00000392500;ENST00000360290;ENST00000419517	T;T;T;T;T;T	0.25085	3.03;3.03;2.44;2.15;1.82;2.16	5.86	-1.51	0.08664	.	0.421727	0.24012	N	0.042366	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.16166	0.016;0.004;0.001;0.001;0.001	B;B;B;B;B	0.14023	0.01;0.005;0.005;0.003;0.002	T	0.37220	-0.9715	10	0.54805	T	0.06	-0.159	6.8756	0.24145	0.0:0.4028:0.195:0.4022	.	68;173;170;173;170	B4DYT2;Q5SZL2-2;G3V0H3;F8W6J2;Q5SZL2	.;.;.;.;CF204_HUMAN	H	170;173;173;173;68;170	ENSP00000357477:Q170H;ENSP00000357474:Q173H;ENSP00000392131:Q173H;ENSP00000376288:Q173H;ENSP00000353434:Q68H;ENSP00000393317:Q170H	ENSP00000353434:Q68H	Q	-	3	2	C6orf204	118993895	0.031000	0.19500	0.000000	0.03702	0.128000	0.20619	0.238000	0.18004	-0.342000	0.08363	0.655000	0.94253	CAG		0.507	CEP85L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041996.2	NM_001042475		10	77	1	0	3.86212e-05	0.008291	4.42185e-05	10	77				
NCOA7	135112	broad.mit.edu	37	6	126249904	126249904	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr6:126249904G>C	ENST00000368357.3	+	17	3168	c.2816G>C	c.(2815-2817)tGg>tCg	p.W939S	NCOA7_ENST00000229634.9_Missense_Mutation_p.W824S|NCOA7_ENST00000392477.2_Missense_Mutation_p.W939S	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	939	TLD.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)	p.V233V(1)|p.W939S(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CTGGAGGTGTGGGCATTTGAT	0.418																																							uc010kes.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	lung(2)|ovary(1)	3						c.(2815-2817)TGG>TCG		nuclear receptor coactivator 7 isoform 1							81.0	84.0	83.0					6																	126249904		2203	4300	6503	SO:0001583	missense	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126249904G>C	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.2816G>C	6.37:g.126249904G>C	ENSP00000357341:p.Trp939Ser					NCOA7_uc003qae.3_Missense_Mutation_p.W939S|NCOA7_uc003qah.2_Missense_Mutation_p.W928S|NCOA7_uc003qai.2_Missense_Mutation_p.W939S|NCOA7_uc010ket.2_Missense_Mutation_p.W824S|NCOA7_uc003qak.2_Missense_Mutation_p.W216S	p.W939S	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	18	3265	+			939			TLD.		B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	c.2816G>C	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183417	0.78677	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634	T;T;T	0.69435	-0.4;-0.4;-0.4	6.17	6.17	0.99709	TLDc (2);	0.000000	0.85682	D	0.000000	D	0.86489	0.5945	M	0.93594	3.435	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;0.999;0.999;0.979	D	0.88150	0.2850	10	0.87932	D	0	-6.3054	20.8794	0.99867	0.0:0.0:1.0:0.0	.	928;233;928;939	B3KXK4;Q5JVL0;Q8NI08-2;Q8NI08	.;.;.;NCOA7_HUMAN	S	939;939;824	ENSP00000357341:W939S;ENSP00000376269:W939S;ENSP00000229634:W824S	ENSP00000229634:W824S	W	+	2	0	NCOA7	126291597	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGG		0.418	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		17	64	0	0	0	0.006122	0	17	64				
GRM1	2911	broad.mit.edu	37	6	146755808	146755808	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr6:146755808C>T	ENST00000282753.1	+	8	3696	c.3461C>T	c.(3460-3462)tCg>tTg	p.S1154L	GRM1_ENST00000361719.2_Missense_Mutation_p.S1154L|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000355289.4_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1154	Ser-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.S1154L(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TTCCGCGACTCGGTGGCCTCG	0.657																																							uc010khw.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(3460-3462)TCG>TTG		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						37.0	40.0	39.0					6																	146755808		2203	4299	6502	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755808C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3461C>T	6.37:g.146755808C>T	ENSP00000282753:p.Ser1154Leu					GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	p.S1154L	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3931	+		Ovarian(120;0.0387)	1154			Ser-rich.|Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.3461C>T	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	31	5.085365	0.94100	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.90900	-2.75;-2.75	5.82	5.82	0.92795	Metabotropic glutamate receptor, Homer-binding domain (1);	0.243493	0.42548	D	0.000696	D	0.85195	0.5641	L	0.47190	1.495	0.80722	D	1	B	0.25719	0.132	B	0.18871	0.023	T	0.82494	-0.0429	10	0.87932	D	0	.	20.1054	0.97890	0.0:1.0:0.0:0.0	.	1154	Q13255	GRM1_HUMAN	L	1154	ENSP00000354896:S1154L;ENSP00000282753:S1154L	ENSP00000282753:S1154L	S	+	2	0	GRM1	146797501	0.994000	0.37717	1.000000	0.80357	0.979000	0.70002	4.635000	0.61332	2.757000	0.94681	0.655000	0.94253	TCG		0.657	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		8	61	0	0	0	0.004482	0	8	61				
AKAP12	9590	broad.mit.edu	37	6	151670666	151670666	+	Silent	SNP	C	C	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr6:151670666C>A	ENST00000253332.1	+	3	1329	c.1140C>A	c.(1138-1140)ccC>ccA	p.P380P	AKAP12_ENST00000402676.2_Silent_p.P380P|snoU13_ENST00000458767.1_RNA|AKAP12_ENST00000359755.5_Silent_p.P275P|AKAP12_ENST00000354675.6_Silent_p.P282P			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	380	Involved in PKC-binding. {ECO:0000305}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.P380P(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TTGAGCTGCCCTCAGAGGAGC	0.552																																					Melanoma(141;1616 1805 10049 24534 51979)	Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(1138-1140)CCC>CCA		A kinase (PRKA) anchor protein 12 isoform 1							39.0	46.0	44.0					6																	151670666		2203	4300	6503	SO:0001819	synonymous_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151670666C>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1140C>A	6.37:g.151670666C>A						AKAP12_uc003qoe.2_Silent_p.P380P|AKAP12_uc003qof.2_Silent_p.P282P|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.P275P	p.P380P	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	1380	+		Ovarian(120;0.125)	380			Involved in PKC-binding (Probable).		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	c.1140C>A	CCDS5229.1																																																																																				0.552	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			4	57	1	0	0.000602214	0.014758	0.000660763	4	57				
CCR6	1235	broad.mit.edu	37	6	167550481	167550481	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr6:167550481G>C	ENST00000341935.5	+	3	1315	c.763G>C	c.(763-765)Gta>Cta	p.V255L	CCR6_ENST00000349984.4_Missense_Mutation_p.V255L|CCR6_ENST00000400926.2_Missense_Mutation_p.V255L|RP11-517H2.6_ENST00000609590.1_RNA	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	255					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)	p.V255L(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		AGCCATCCGTGTAATCATAGC	0.418																																							uc003qvl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(763-765)GTA>CTA		chemokine (C-C motif) receptor 6							151.0	148.0	149.0					6																	167550481		2203	4300	6503	SO:0001583	missense	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167550481G>C	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.763G>C	6.37:g.167550481G>C	ENSP00000343952:p.Val255Leu					CCR6_uc010kkm.2_Missense_Mutation_p.V255L|CCR6_uc003qvn.3_Missense_Mutation_p.V255L|CCR6_uc003qvm.3_Missense_Mutation_p.V255L	p.V255L	NM_031409	NP_113597	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	13	3239	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	255			Helical; Name=6; (Potential).		E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	c.763G>C	CCDS5298.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176841	0.57692	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.35048	1.33;1.33;1.33	4.79	4.79	0.61399	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000006	T	0.34658	0.0905	L	0.41356	1.27	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	T	0.06570	-1.0819	10	0.09590	T	0.72	.	17.1784	0.86848	0.0:0.0:1.0:0.0	.	255	P51684	CCR6_HUMAN	L	255	ENSP00000383715:V255L;ENSP00000343952:V255L;ENSP00000339393:V255L	ENSP00000343952:V255L	V	+	1	0	CCR6	167470471	1.000000	0.71417	0.091000	0.20842	0.048000	0.14542	6.940000	0.75917	2.345000	0.79718	0.655000	0.94253	GTA		0.418	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1			5	71	0	0	0	0.014758	0	5	71				
NME8	51314	broad.mit.edu	37	7	37916489	37916489	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr7:37916489G>A	ENST00000199447.4	+	12	1246	c.874G>A	c.(874-876)Gat>Aat	p.D292N	NME8_ENST00000440017.1_Missense_Mutation_p.D292N|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	292					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)	p.D292N(1)									CATTGAAGAGGATGCAGCTAA	0.323																																						Ovarian(108;903 1537 27096 29907 47400)	uc003tfn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(874-876)GAT>AAT		thioredoxin domain containing 3							72.0	74.0	74.0					7																	37916489		2203	4300	6503	SO:0001583	missense	51314	Kartagener_syndrome			cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37916489G>A	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.874G>A	7.37:g.37916489G>A	ENSP00000199447:p.Asp292Asn						p.D292N	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			12	1246	+			292					Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.874G>A	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.713064	0.00094	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.40225	1.04;1.04	3.91	-6.63	0.01807	.	0.919904	0.09100	N	0.848670	T	0.14787	0.0357	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.39461	-0.9613	10	0.02654	T	1	-6.6401	9.6215	0.39723	0.1982:0.0:0.66:0.1417	.	292	Q8N427	TXND3_HUMAN	N	292	ENSP00000199447:D292N;ENSP00000397063:D292N	ENSP00000199447:D292N	D	+	1	0	TXNDC3	37883014	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.123000	0.03263	-1.377000	0.02123	-1.937000	0.00501	GAT		0.323	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		3	36	0	0	0	0.004672	0	3	36				
EGFR	1956	broad.mit.edu	37	7	55241708	55241708	+	Missense_Mutation	SNP	G	G	C	rs121913428		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr7:55241708G>C	ENST00000275493.2	+	18	2333	c.2156G>C	c.(2155-2157)gGc>gCc	p.G719A	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.G674A|EGFR_ENST00000454757.2_Missense_Mutation_p.G666A	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	719	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> A (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.|G -> C (found in a lung cancer sample; dbSNP:rs28929495). {ECO:0000269|PubMed:15623594, ECO:0000269|PubMed:16533793}.|G -> D (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.|G -> S (found in a lung cancer sample; somatic mutation; strongly increased kinase activity; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type). {ECO:0000269|PubMed:15118125, ECO:0000269|PubMed:15623594, ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G719A(27)|p.G719D(4)|p.G719fs*29(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AAAGTGCTGGGCTCCGGTGCG	0.582		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		32	Substitution - Missense(31)|Deletion - Frameshift(1)	p.G719S(61)|p.G719A(52)|p.G719C(31)|p.G719?(9)|p.G719D(6)|p.G719V(1)|p.G719fs*29(1)	lung(30)|oesophagus(1)|central_nervous_system(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2155-2157)GGC>GCC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						68.0	70.0	69.0					7																	55241708		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55241708G>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2156G>C	7.37:g.55241708G>C	ENSP00000275493:p.Gly719Ala	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.G674A|EGFR_uc011kco.1_Missense_Mutation_p.G666A	p.G719A	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		18	2402	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		719		G -> A (found in a lung cancer sample).|G -> D (found in a lung cancer sample).|G -> S (found in a lung cancer sample; somatic mutation; strongly increased kinase activity).	Cytoplasmic (Potential).|Protein kinase.|ATP.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2156G>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	19.12	3.766389	0.69878	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.78364	-1.17;-1.17;-1.17	5.5	5.5	0.81552	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90376	0.6988	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.972;0.995	D	0.92105	0.5691	10	0.87932	D	0	.	17.9478	0.89044	0.0:0.0:1.0:0.0	.	674;719	Q504U8;P00533	.;EGFR_HUMAN	A	674;589;719;666	ENSP00000415559:G674A;ENSP00000275493:G719A;ENSP00000395243:G666A	ENSP00000275493:G719A	G	+	2	0	EGFR	55209202	1.000000	0.71417	0.996000	0.52242	0.044000	0.14063	9.772000	0.98984	2.562000	0.86427	0.563000	0.77884	GGC		0.582	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		25	60	0	0	0	0.01892	0	25	60				
EGFR	1956	broad.mit.edu	37	7	55249005	55249005	+	Missense_Mutation	SNP	G	G	T	rs146024686|rs121913465|rs397517108		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr7:55249005G>T	ENST00000275493.2	+	20	2480	c.2303G>T	c.(2302-2304)aGc>aTc	p.S768I	EGFR_ENST00000442591.1_Intron|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Missense_Mutation_p.S723I|EGFR_ENST00000454757.2_Missense_Mutation_p.S715I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	768	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> I (found in a lung cancer sample; constitutively activated kinase with higher levels of basal autophosphorylation; more sensitive to gefitinib than wild-type; dbSNP:rs121913465). {ECO:0000269|PubMed:15623594}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.S768I(24)|p.S768N(1)|p.S768_V769insVAS(1)|p.S768_V769>IL(1)|p.S768T(1)|p.A767_S768insTLA(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGATGGCCAGCGTGGACAAC	0.637		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		29	Substitution - Missense(26)|Insertion - In frame(2)|Complex - compound substitution(1)	p.S768I(53)|p.S768_V769insAWT(1)|p.S768N(1)|p.S752_V769del(1)|p.S768_V769insVAS(1)|p.S768C(1)|p.S768_V769>IL(1)|p.A767_S768insTLA(1)	lung(25)|oesophagus(2)|large_intestine(1)|central_nervous_system(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2302-2304)AGC>ATC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						102.0	94.0	97.0					7																	55249005		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55249005G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2303G>T	7.37:g.55249005G>T	ENSP00000275493:p.Ser768Ile	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Missense_Mutation_p.S723I|EGFR_uc011kco.1_Missense_Mutation_p.S715I|uc003tqo.2_RNA	p.S768I	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		20	2549	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		768			Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.2303G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151428	0.94645	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.83250	-1.7;-1.7;-1.7	5.85	5.85	0.93711	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90349	0.6980	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	P;D	0.91635	0.69;0.999	D	0.90589	0.4535	10	0.87932	D	0	.	18.7267	0.91716	0.0:0.0:1.0:0.0	.	723;768	Q504U8;P00533	.;EGFR_HUMAN	I	723;638;768;715	ENSP00000415559:S723I;ENSP00000275493:S768I;ENSP00000395243:S715I	ENSP00000275493:S768I	S	+	2	0	EGFR	55216499	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.830000	0.99415	2.760000	0.94817	0.655000	0.94253	AGC		0.637	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		36	105	1	0	1.58521e-26	0.005524	2.03628e-26	36	105				
GTF2IRD1	9569	broad.mit.edu	37	7	73973268	73973268	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr7:73973268G>A	ENST00000265755.3	+	21	2623	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.E761K|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.E729K|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.E729K	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	744					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E744K(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CGTGATCATCGAGGGGCTGCC	0.597																																							uc003uaq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2230-2232)GAG>AAG		GTF2I repeat domain containing 1 isoform 1							81.0	76.0	78.0					7																	73973268		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73973268G>A	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.2230G>A	7.37:g.73973268G>A	ENSP00000265755:p.Glu744Lys					GTF2IRD1_uc010lbq.2_Missense_Mutation_p.E761K|GTF2IRD1_uc003uap.2_Missense_Mutation_p.E729K|GTF2IRD1_uc003uar.1_Missense_Mutation_p.E729K	p.E744K	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN			21	2623	+			744			GTF2I-like 4.		O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.2230G>A	CCDS5571.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.942209|4.942209	0.92526|0.92526	.|.	.|.	ENSG00000006704|ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977|ENST00000470715	T;T;T;T|.	0.43688|.	0.94;0.94;0.94;0.94|.	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	0.175593|.	0.48767|.	D|.	0.000174|.	T|T	0.54303|0.54303	0.1850|0.1850	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999994|0.999994	D;B;B;P|.	0.71674|.	0.998;0.013;0.124;0.879|.	P;B;B;B|.	0.61201|.	0.885;0.014;0.072;0.358|.	T|T	0.51371|0.51371	-0.8714|-0.8714	10|5	0.48119|.	T|.	0.1|.	-25.3011|-25.3011	16.3608|16.3608	0.83267|0.83267	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	761;729;744;729|.	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2|.	.;.;GT2D1_HUMAN;.|.	K|Q	744;761;729;729|106	ENSP00000265755:E744K;ENSP00000397566:E761K;ENSP00000408477:E729K;ENSP00000418383:E729K|.	ENSP00000265755:E744K|.	E|R	+|+	1|2	0|0	GTF2IRD1|GTF2IRD1	73611204|73611204	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.886000|0.886000	0.51366|0.51366	7.266000|7.266000	0.78452|0.78452	2.096000|2.096000	0.63516|0.63516	0.555000|0.555000	0.69702|0.69702	GAG|CGA		0.597	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		4	60	0	0	0	0.009096	0	4	60				
ABCB4	5244	broad.mit.edu	37	7	87041236	87041236	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr7:87041236C>G	ENST00000265723.4	-	23	3008	c.2897G>C	c.(2896-2898)gGa>gCa	p.G966A	ABCB4_ENST00000359206.3_Missense_Mutation_p.G966A|ABCB4_ENST00000545634.1_Missense_Mutation_p.G966A|ABCB4_ENST00000453593.1_Intron|ABCB4_ENST00000358400.3_Intron	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	966	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.G966A(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GCGCATATGTCCATTCACAAT	0.318																																							uc003uiv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)|pancreas(1)	6						c.(2896-2898)GGA>GCA		ATP-binding cassette, subfamily B, member 4							64.0	60.0	61.0					7																	87041236		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87041236C>G	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2897G>C	7.37:g.87041236C>G	ENSP00000265723:p.Gly966Ala					ABCB4_uc003uiw.1_Missense_Mutation_p.G966A|ABCB4_uc003uix.1_Intron	p.G966A	NM_018849	NP_061337	P21439	MDR3_HUMAN			23	2973	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		966			Extracellular (By similarity).|ABC transmembrane type-1 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.2897G>C	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845288	0.51164	.	.	ENSG00000005471	ENST00000359206;ENST00000265723;ENST00000545634	D;D;D	0.86769	-2.17;-2.17;-2.17	5.48	5.48	0.80851	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.493943	0.11384	U	0.569544	D	0.89860	0.6837	M	0.85462	2.755	0.46542	D	0.99909	P;P	0.41848	0.721;0.763	B;P	0.46208	0.373;0.507	D	0.85547	0.1219	10	0.21540	T	0.41	-15.4572	10.8452	0.46739	0.0:0.8543:0.0:0.1457	.	966;966	P21439-2;P21439	.;MDR3_HUMAN	A	966	ENSP00000352135:G966A;ENSP00000265723:G966A;ENSP00000437465:G966A	ENSP00000265723:G966A	G	-	2	0	ABCB4	86879172	0.987000	0.35691	1.000000	0.80357	0.997000	0.91878	2.210000	0.42816	2.574000	0.86865	0.655000	0.94253	GGA		0.318	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		3	32	0	0	0	0.004672	0	3	32				
PRSS1	5644	broad.mit.edu	37	7	142459867	142459867	+	Missense_Mutation	SNP	C	C	A	rs386718744		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr7:142459867C>A	ENST00000311737.7	+	3	449	c.443C>A	c.(442-444)gCg>gAg	p.A148E	PRSS1_ENST00000486171.1_Missense_Mutation_p.A162E	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	148	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.A148E(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GGCAACACTGCGAGCTCTGGC	0.577																																							uc003wak.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(442-444)GCG>GAG		protease, serine, 1 preproprotein							67.0	68.0	67.0					7																	142459867		2203	4300	6503	SO:0001583	missense	5644	Hereditary_Pancreatitis			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142459867C>A	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.443C>A	7.37:g.142459867C>A	ENSP00000308720:p.Ala148Glu					uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.A88E	p.A148E	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		3	460	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	148			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.443C>A	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	C	1.419	-0.573289	0.03882	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.88277	-2.36;-2.36;-2.36	3.28	1.98	0.26296	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.368349	0.27971	N	0.017113	T	0.66963	0.2843	N	0.02169	-0.655	0.22354	N	0.99917	B;B	0.06786	0.001;0.0	B;B	0.12837	0.008;0.005	T	0.55952	-0.8059	10	0.12766	T	0.61	.	6.0608	0.19837	0.0:0.2308:0.0:0.7692	.	162;148	E7EQ64;P07477	.;TRY1_HUMAN	E	162;148;138;98	ENSP00000417854:A162E;ENSP00000308720:A148E;ENSP00000419912:A98E	ENSP00000308720:A148E	A	+	2	0	PRSS1	142139441	0.466000	0.25823	0.957000	0.39632	0.006000	0.05464	2.113000	0.41902	0.430000	0.26230	-0.745000	0.03516	GCG		0.577	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			4	106	1	0	0.00024832	0.009096	0.0002763	4	106				
SLC7A2	6542	broad.mit.edu	37	8	17421114	17421114	+	Silent	SNP	T	T	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr8:17421114T>C	ENST00000494857.1	+	12	1892	c.1674T>C	c.(1672-1674)gtT>gtC	p.V558V	SLC7A2_ENST00000398090.3_Silent_p.V597V|SLC7A2_ENST00000004531.10_Silent_p.V598V|SLC7A2_ENST00000522656.1_Silent_p.V558V|SLC7A2_ENST00000470360.1_Silent_p.V597V	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	558					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)	p.V597V(1)|p.V558V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CCCCTCAGGTTCCATTCTTAC	0.393																																							uc011kyc.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(1672-1674)GTT>GTC		solute carrier family 7, member 2 isoform 2	L-Lysine(DB00123)|L-Ornithine(DB00129)						228.0	216.0	220.0					8																	17421114		2203	4300	6503	SO:0001819	synonymous_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17421114T>C	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1674T>C	8.37:g.17421114T>C						SLC7A2_uc011kyd.1_Silent_p.V597V|SLC7A2_uc011kye.1_Silent_p.V598V|SLC7A2_uc011kyf.1_Silent_p.V558V	p.V558V	NM_001008539	NP_001008539	P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	11	1843	+			558			Helical; (Potential).		B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	c.1674T>C	CCDS34852.1																																																																																				0.393	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		6	117	0	0	0	0.001168	0	6	117				
ZBTB10	65986	broad.mit.edu	37	8	81426206	81426206	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr8:81426206G>T	ENST00000430430.1	+	4	2702	c.1923G>T	c.(1921-1923)ttG>ttT	p.L641F	ZBTB10_ENST00000426744.2_Missense_Mutation_p.L641F|ZBTB10_ENST00000379091.4_Missense_Mutation_p.L349F|ZBTB10_ENST00000455036.3_Missense_Mutation_p.L641F	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	641					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.L641F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			CAAATTTATTGGCTGAAGCTG	0.398																																							uc003ybx.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1921-1923)TTG>TTT		zinc finger and BTB domain containing 10 isoform							125.0	121.0	122.0					8																	81426206		1974	4152	6126	SO:0001583	missense	65986				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:81426206G>T	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1923G>T	8.37:g.81426206G>T	ENSP00000387462:p.Leu641Phe					ZBTB10_uc003ybv.3_Missense_Mutation_p.L349F|ZBTB10_uc003ybw.3_Missense_Mutation_p.L641F|ZBTB10_uc010lzt.2_Missense_Mutation_p.L639F	p.L641F	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)		3	2521	+	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		641					A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	ENST00000430430.1	37	c.1923G>T	CCDS47880.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224989	0.58668	.	.	ENSG00000205189	ENST00000379091;ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T;T	0.11604	2.8;2.77;2.77;2.76	5.26	3.46	0.39613	.	0.342627	0.24957	N	0.034242	T	0.11324	0.0276	N	0.19112	0.55	0.27644	N	0.947612	D;D;P;D	0.67145	0.996;0.989;0.815;0.989	P;P;B;P	0.57548	0.823;0.648;0.413;0.726	T	0.12967	-1.0527	10	0.14252	T	0.57	.	8.0246	0.30430	0.1882:0.0:0.8118:0.0	.	495;641;641;349	A8E4L4;Q96DT7;Q96DT7-2;Q96DT7-4	.;ZBT10_HUMAN;.;.	F	349;641;641;641;467	ENSP00000368384:L349F;ENSP00000387462:L641F;ENSP00000412036:L641F;ENSP00000416134:L641F	ENSP00000368384:L349F	L	+	3	2	ZBTB10	81588761	1.000000	0.71417	0.994000	0.49952	0.825000	0.46686	3.002000	0.49496	0.600000	0.29862	-0.291000	0.09656	TTG		0.398	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2	NM_023929		7	37	1	0	0.000157383	0.00308	0.000177618	7	37				
CA1	759	broad.mit.edu	37	8	86242016	86242016	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr8:86242016C>G	ENST00000523953.1	-	8	1617	c.571G>C	c.(571-573)Gat>Cat	p.D191H	CA1_ENST00000432364.2_Missense_Mutation_p.D191H|CA1_ENST00000522389.1_Missense_Mutation_p.D57H|CA1_ENST00000523022.1_Missense_Mutation_p.D191H|CA1_ENST00000256119.5_Missense_Mutation_p.D191H|CA1_ENST00000431316.1_Missense_Mutation_p.D191H|CA1_ENST00000542576.1_Missense_Mutation_p.D191H			P00915	CAH1_HUMAN	carbonic anhydrase I	191					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.D191H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	GTCCAGAAATCCAGGGATGAA	0.448																																							uc003ydh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(571-573)GAT>CAT		carbonic anhydrase I	Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)						69.0	61.0	64.0					8																	86242016		2203	4300	6503	SO:0001583	missense	759				one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding	g.chr8:86242016C>G	M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"""Carbonic anhydrases"""	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.571G>C	8.37:g.86242016C>G	ENSP00000430656:p.Asp191His					CA13_uc003ydf.1_Intron|CA1_uc010mae.1_Missense_Mutation_p.D191H|CA1_uc003ydi.2_Missense_Mutation_p.D191H	p.D191H	NM_001738	NP_001729	P00915	CAH1_HUMAN			8	771	-		all_lung(136;4.89e-06)	191						Missense_Mutation	SNP	ENST00000523953.1	37	c.571G>C	CCDS6237.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.91|14.91	2.675326|2.675326	0.47781|0.47781	.|.	.|.	ENSG00000133742|ENSG00000133742	ENST00000523953;ENST00000256119;ENST00000431316;ENST00000542576;ENST00000432364;ENST00000523022;ENST00000522389;ENST00000524324;ENST00000517618;ENST00000519991;ENST00000520663|ENST00000521679	T;T;T;T;T;T;T;T;T;T;T|.	0.69435|.	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4|.	4.5|4.5	1.7|1.7	0.24286|0.24286	Carbonic anhydrase, alpha-class, catalytic domain (4);|.	0.245290|.	0.45606|.	N|.	0.000345|.	T|T	0.56659|0.56659	0.2000|0.2000	L|L	0.58354|0.58354	1.805|1.805	0.53688|0.53688	D|D	0.999973|0.999973	B|.	0.30563|.	0.285|.	B|.	0.32022|.	0.139|.	T|T	0.48725|0.48725	-0.9010|-0.9010	10|5	0.54805|.	T|.	0.06|.	-15.8311|-15.8311	6.2382|6.2382	0.20774|0.20774	0.0:0.6695:0.1535:0.1771|0.0:0.6695:0.1535:0.1771	.|.	191|.	P00915|.	CAH1_HUMAN|.	H|A	191;191;191;191;191;191;57;125;191;78;78|127	ENSP00000430656:D191H;ENSP00000256119:D191H;ENSP00000392338:D191H;ENSP00000443517:D191H;ENSP00000401551:D191H;ENSP00000429798:D191H;ENSP00000427773:D57H;ENSP00000428923:D125H;ENSP00000430861:D191H;ENSP00000430543:D78H;ENSP00000430571:D78H|.	ENSP00000256119:D191H|.	D|G	-|-	1|2	0|0	CA1|CA1	86429268|86429268	0.997000|0.997000	0.39634|0.39634	0.969000|0.969000	0.41365|0.41365	0.989000|0.989000	0.77384|0.77384	1.842000|1.842000	0.39250|0.39250	0.240000|0.240000	0.21263|0.21263	-0.137000|-0.137000	0.14449|0.14449	GAT|GGA		0.448	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381067.1	NM_001738		3	14	0	0	0	0.004672	0	3	14				
SLC26A7	115111	broad.mit.edu	37	8	92374658	92374658	+	Silent	SNP	C	C	T	rs527879455	byFrequency	TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr8:92374658C>T	ENST00000276609.3	+	12	1631	c.1392C>T	c.(1390-1392)acC>acT	p.T464T	SLC26A7_ENST00000309536.2_Silent_p.T464T|SLC26A7_ENST00000523719.1_Silent_p.T464T|SLC26A7_ENST00000520249.1_3'UTR	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.T464T(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTGTTTGTACCATAGCTATAG	0.393													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18524	0.0		0.0	False		,,,				2504	0.0						uc003yex.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1390-1392)ACC>ACT		solute carrier family 26, member 7 isoform a							340.0	283.0	303.0					8																	92374658		2203	4300	6503	SO:0001819	synonymous_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92374658C>T	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1392C>T	8.37:g.92374658C>T						SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.T464T|SLC26A7_uc003yfa.2_Silent_p.T464T	p.T464T	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		13	1670	+			464			Helical; (Potential).			Silent	SNP	ENST00000276609.3	37	c.1392C>T	CCDS6254.1																																																																																				0.393	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			6	148	0	0	0	0.001984	0	6	148				
TG	7038	broad.mit.edu	37	8	134042186	134042186	+	Missense_Mutation	SNP	G	G	A	rs144905796	byFrequency	TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr8:134042186G>A	ENST00000220616.4	+	41	7197	c.7157G>A	c.(7156-7158)cGt>cAt	p.R2386H	TG_ENST00000519543.1_Missense_Mutation_p.R519H|TG_ENST00000377869.1_Missense_Mutation_p.R2329H|TG_ENST00000542445.1_Missense_Mutation_p.R756H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2386					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R2386H(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCAGCAGACCGTGGCGGGGCT	0.642													G|||	3	0.000599042	0.0008	0.0	5008	,	,		12653	0.0		0.002	False		,,,				2504	0.0						uc003ytw.2		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(7156-7158)CGT>CAT		thyroglobulin precursor		G	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	59.0	60.0	60.0		7157	4.2	0.8	8	dbSNP_134	60	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TG	NM_003235.4	29	0,6,6497	AA,AG,GG		0.0233,0.0908,0.0461	probably-damaging	2386/2769	134042186	6,13000	2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:134042186G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7157G>A	8.37:g.134042186G>A	ENSP00000220616:p.Arg2386His					TG_uc010mdw.2_Missense_Mutation_p.R1145H|TG_uc011ljb.1_Missense_Mutation_p.R755H|TG_uc011ljc.1_Missense_Mutation_p.R519H	p.R2386H	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	41	7198	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	2386					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.7157G>A	CCDS34944.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	18.81	3.703448	0.68501	9.08E-4	2.33E-4	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.12	4.25	0.50352	Carboxylesterase, type B (1);	0.212698	0.40469	N	0.001083	T	0.52468	0.1736	M	0.75447	2.3	0.41665	D	0.989207	P;B;P	0.42518	0.782;0.247;0.557	B;B;B	0.38327	0.271;0.063;0.175	T	0.60835	-0.7184	10	0.87932	D	0	.	12.4001	0.55407	0.083:0.0:0.917:0.0	.	519;756;2386	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	H	2329;1192;2386;756;519	ENSP00000367100:R2329H;ENSP00000220616:R2386H;ENSP00000441693:R756H;ENSP00000430430:R519H	ENSP00000220616:R2386H	R	+	2	0	TG	134111368	1.000000	0.71417	0.813000	0.32504	0.941000	0.58515	4.947000	0.63583	1.170000	0.42753	0.479000	0.44913	CGT		0.642	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		5	60	0	0	0	0.001168	0	5	60				
TEX10	54881	broad.mit.edu	37	9	103108428	103108428	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr9:103108428C>T	ENST00000374902.4	-	4	1239	c.1063G>A	c.(1063-1065)Gtt>Att	p.V355I	TEX10_ENST00000535814.1_Missense_Mutation_p.V358I|TEX10_ENST00000537512.1_Missense_Mutation_p.V290I	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	355						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)		p.V355I(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGCTGCATAACCTGTAGAGGT	0.378																																							uc004bas.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1063-1065)GTT>ATT		testis expressed 10 isoform 1							94.0	92.0	93.0					9																	103108428		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103108428C>T	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1063G>A	9.37:g.103108428C>T	ENSP00000364037:p.Val355Ile					TEX10_uc011lvf.1_Missense_Mutation_p.V194I|TEX10_uc011lvg.1_Missense_Mutation_p.V358I|TEX10_uc011lvh.1_Missense_Mutation_p.V290I|TEX10_uc004bat.2_Missense_Mutation_p.V355I	p.V355I	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	4	1278	-		Acute lymphoblastic leukemia(62;0.0527)	355					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.1063G>A	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.646169	0.29246	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000537512	T;T;T	0.66815	-0.23;-0.23;-0.23	5.46	3.57	0.40892	Armadillo-like helical (1);Armadillo-type fold (1);	0.195716	0.44902	D	0.000412	T	0.45796	0.1360	L	0.29908	0.895	0.41713	D	0.989468	B;B;P;P;B	0.34462	0.172;0.451;0.454;0.454;0.329	B;B;B;B;B	0.30316	0.023;0.079;0.078;0.114;0.053	T	0.33007	-0.9885	10	0.10377	T	0.69	-7.2244	8.4292	0.32746	0.0:0.5325:0.371:0.0965	.	290;358;223;223;355	B7Z9D5;B4DYV2;E7ERG2;B4DQR0;Q9NXF1	.;.;.;.;TEX10_HUMAN	I	358;355;223;290	ENSP00000444555:V358I;ENSP00000364037:V355I;ENSP00000438120:V290I	ENSP00000364037:V355I	V	-	1	0	TEX10	102148249	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.412000	0.44609	1.304000	0.44892	0.561000	0.74099	GTT		0.378	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		19	39	0	0	0	0.007413	0	19	39				
TMEM246	84302	broad.mit.edu	37	9	104238192	104238192	+	Missense_Mutation	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr9:104238192G>A	ENST00000374851.1	-	4	2330	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	RP11-490D19.6_ENST00000424154.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.R395W|TMEM246_ENST00000374847.1_Missense_Mutation_p.R395W|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA			Q9BRR3	TM246_HUMAN	transmembrane protein 246	395						integral component of membrane (GO:0016021)		p.R395W(1)									AAGTTGTACCGGAGACTGGAG	0.488																																							uc004bbm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1183-1185)CGG>TGG		hypothetical protein LOC84302							101.0	102.0	102.0					9																	104238192		2203	4300	6503	SO:0001583	missense	84302					integral to membrane		g.chr9:104238192G>A	BC006115	CCDS6757.1	9q31.1	2012-04-02	2012-04-02	2012-04-02	ENSG00000165152	ENSG00000165152			28180	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 125"""	C9orf125		12477932	Standard	NM_032342		Approved	MGC12992	uc004bbm.3	Q9BRR3	OTTHUMG00000020381	ENST00000374851.1:c.1183C>T	9.37:g.104238192G>A	ENSP00000363984:p.Arg395Trp					uc004bbl.1_5'Flank	p.R395W	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN			2	1505	-		Acute lymphoblastic leukemia(62;0.0527)	395					Q49AQ4	Missense_Mutation	SNP	ENST00000374851.1	37	c.1183C>T	CCDS6757.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429854	0.62844	.	.	ENSG00000165152	ENST00000374848;ENST00000374847;ENST00000374851	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.77572	0.4150	M	0.69823	2.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.79356	-0.1837	9	0.87932	D	0	-23.603	13.7153	0.62693	0.0:0.0:0.8462:0.1538	.	395	Q9BRR3	CI125_HUMAN	W	395	.	ENSP00000363980:R395W	R	-	1	2	C9orf125	103278013	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.960000	0.40422	2.689000	0.91719	0.655000	0.94253	CGG		0.488	TMEM246-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053444.1	NM_032342		28	114	0	0	0	0.015359	0	28	114				
TLR4	7099	broad.mit.edu	37	9	120476638	120476638	+	Missense_Mutation	SNP	C	C	A	rs201587364		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr9:120476638C>A	ENST00000355622.6	+	3	2333	c.2232C>A	c.(2230-2232)agC>agA	p.S744R	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.S704R	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	744	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.S744R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TCATCCAGAGCCGCTGGTGTA	0.488																																							uc004bjz.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(2230-2232)AGC>AGA		toll-like receptor 4 precursor							74.0	76.0	76.0					9																	120476638		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476638C>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.2232C>A	9.37:g.120476638C>A	ENSP00000363089:p.Ser744Arg					TLR4_uc004bka.2_Missense_Mutation_p.S704R|TLR4_uc004bkb.2_Missense_Mutation_p.S544R	p.S744R	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	2523	+			744			Cytoplasmic (Potential).|TIR.		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.2232C>A	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678618	0.68042	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.05025	3.51;3.51	6.03	2.0	0.26442	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.85682	D	0.000000	T	0.25531	0.0621	M	0.87456	2.885	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	T	0.00754	-1.1580	10	0.87932	D	0	.	9.9022	0.41355	0.0:0.7161:0.0:0.2839	.	744	O00206	TLR4_HUMAN	R	704;744	ENSP00000377997:S704R;ENSP00000363089:S744R	ENSP00000363089:S744R	S	+	3	2	TLR4	119516459	0.998000	0.40836	0.999000	0.59377	0.949000	0.60115	0.899000	0.28417	0.095000	0.17434	-0.136000	0.14681	AGC		0.488	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		29	45	1	0	5.60225e-13	0.009535	7.08124e-13	29	45				
ODF2	4957	broad.mit.edu	37	9	131219701	131219701	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr9:131219701C>T	ENST00000434106.3	+	2	380	c.17C>T	c.(16-18)tCa>tTa	p.S6L	ODF2_ENST00000372814.3_Intron|ODF2_ENST00000393527.3_5'UTR|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000604420.1_Missense_Mutation_p.S6L|ODF2_ENST00000351030.3_Intron|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000372791.3_Missense_Mutation_p.S6L|ODF2_ENST00000546203.1_Intron	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	6					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.S6L(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GCCTCATCCTCAGGCGGCTCC	0.657																																							uc011mbd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(16-18)TCA>TTA		outer dense fiber of sperm tails 2 isoform 1							86.0	89.0	88.0					9																	131219701		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131219701C>T	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.17C>T	9.37:g.131219701C>T	ENSP00000403453:p.Ser6Leu					ODF2_uc011maz.1_Intron|ODF2_uc011mba.1_Intron|ODF2_uc010myb.2_Intron|ODF2_uc011mbb.1_Intron|ODF2_uc011mbc.1_Intron|ODF2_uc004bva.2_Intron|ODF2_uc004bvb.2_5'UTR|ODF2_uc011mbe.1_Intron|ODF2_uc004bvc.2_Intron|ODF2_uc010myc.2_Intron|ODF2_uc011mbf.1_Intron|ODF2_uc004bvd.3_Missense_Mutation_p.S6L|ODF2_uc004bve.2_Missense_Mutation_p.S6L	p.S6L	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN			2	328	+			6					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.17C>T	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502032	0.44455	.	.	ENSG00000136811	ENST00000372796;ENST00000434106;ENST00000446274;ENST00000432065;ENST00000372791	T;T;T	0.41758	1.8;1.8;0.99	3.84	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.42698	0.1214	L	0.27053	0.805	0.80722	D	1	P;P	0.51449	0.945;0.945	P;P	0.54965	0.765;0.765	T	0.40869	-0.9540	10	0.87932	D	0	-4.118	11.5487	0.50708	0.0:1.0:0.0:0.0	.	6;6	Q5BJF6-5;Q5BJF6	.;ODFP2_HUMAN	L	6	ENSP00000361882:S6L;ENSP00000403453:S6L;ENSP00000361877:S6L	ENSP00000361877:S6L	S	+	2	0	ODF2	130259522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.968000	0.49224	2.413000	0.81919	0.591000	0.81541	TCA		0.657	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			6	117	0	0	0	0.004482	0	6	117				
ODF2	4957	broad.mit.edu	37	9	131223324	131223324	+	Missense_Mutation	SNP	G	G	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr9:131223324G>T	ENST00000434106.3	+	4	590	c.227G>T	c.(226-228)cGg>cTg	p.R76L	ODF2_ENST00000372814.3_Missense_Mutation_p.R120L|ODF2_ENST00000393527.3_Intron|ODF2_ENST00000535026.1_Missense_Mutation_p.R71L|ODF2_ENST00000444119.2_Intron|ODF2_ENST00000372807.5_Missense_Mutation_p.R71L|ODF2_ENST00000604420.1_Missense_Mutation_p.R76L|ODF2_ENST00000351030.3_Missense_Mutation_p.R71L|ODF2_ENST00000393533.2_Missense_Mutation_p.R76L|ODF2_ENST00000448249.3_Intron|ODF2_ENST00000372791.3_Intron|ODF2_ENST00000546203.1_Intron	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	76					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.R120L(1)|p.R76L(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						TCATCTGCCCGGCCTGTGGGA	0.572																																							uc011mbd.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(226-228)CGG>CTG		outer dense fiber of sperm tails 2 isoform 1							54.0	52.0	53.0					9																	131223324		2203	4300	6503	SO:0001583	missense	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131223324G>T	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.227G>T	9.37:g.131223324G>T	ENSP00000403453:p.Arg76Leu					ODF2_uc011maz.1_Missense_Mutation_p.R76L|ODF2_uc011mba.1_5'UTR|ODF2_uc010myb.2_Intron|ODF2_uc011mbb.1_Intron|ODF2_uc011mbc.1_Intron|ODF2_uc004bva.2_Missense_Mutation_p.R29L|ODF2_uc004bvb.2_Intron|ODF2_uc011mbe.1_Missense_Mutation_p.R71L|ODF2_uc004bvc.2_Intron|ODF2_uc010myc.2_Missense_Mutation_p.R76L|ODF2_uc011mbf.1_Intron|ODF2_uc004bvd.3_Missense_Mutation_p.R76L|ODF2_uc004bve.2_Intron	p.R76L	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN			4	538	+			76					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	c.227G>T	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839540	0.51057	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000535026;ENST00000434106	T;T;T;T;T	0.41758	0.99;1.05;1.52;1.48;1.48	5.79	3.95	0.45737	.	0.114298	0.64402	D	0.000010	T	0.28200	0.0696	L	0.28115	0.83	0.44677	D	0.997667	B;B;B;B	0.32968	0.341;0.266;0.392;0.047	B;B;B;B	0.33620	0.103;0.067;0.167;0.027	T	0.09751	-1.0660	10	0.46703	T	0.11	-21.8778	7.5445	0.27759	0.1484:0.0:0.7177:0.134	.	71;76;120;76	Q5BJF6-4;B4DX73;Q5BJF6-7;Q5BJF6	.;.;.;ODFP2_HUMAN	L	76;120;71;76;71;76	ENSP00000377166:R76L;ENSP00000361901:R120L;ENSP00000342581:R71L;ENSP00000361882:R76L;ENSP00000403453:R76L	ENSP00000342581:R71L	R	+	2	0	ODF2	130263145	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.863000	0.48396	1.457000	0.47850	0.561000	0.74099	CGG		0.572	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			16	28	1	0	6.31663e-08	0.003163	7.61853e-08	16	28				
GPR34	2857	broad.mit.edu	37	X	41555240	41555240	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chrX:41555240C>G	ENST00000378142.4	+	3	638	c.354C>G	c.(352-354)aaC>aaG	p.N118K	CASK_ENST00000361962.4_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.N118K|CASK_ENST00000378158.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378154.1_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	118					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.N118K(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						TTAACCAAAACAAGTGGACAC	0.368																																							uc004dfp.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(352-354)AAC>AAG		G protein-coupled receptor 34							168.0	154.0	159.0					X																	41555240		2203	4300	6503	SO:0001583	missense	2857					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:41555240C>G	AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.354C>G	X.37:g.41555240C>G	ENSP00000367384:p.Asn118Lys					CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR34_uc004dfq.3_Missense_Mutation_p.N118K|GPR34_uc010nhg.2_Missense_Mutation_p.N118K|GPR34_uc004dfr.3_Missense_Mutation_p.N118K	p.N118K	NM_001097579	NP_001091048	Q9UPC5	GPR34_HUMAN			3	638	+			118			Extracellular (Potential).		O95853	Missense_Mutation	SNP	ENST00000378142.4	37	c.354C>G	CCDS14258.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174149	0.38413	.	.	ENSG00000171659	ENST00000378142;ENST00000378138;ENST00000535368	T;T	0.37058	1.22;1.22	5.96	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.205916	0.50627	N	0.000116	T	0.42517	0.1206	M	0.84585	2.705	0.51482	D	0.999925	B	0.18166	0.026	B	0.27076	0.076	T	0.38564	-0.9655	10	0.62326	D	0.03	-9.9323	7.9222	0.29852	0.1316:0.7266:0.0:0.1417	.	118	Q9UPC5	GPR34_HUMAN	K	118;118;71	ENSP00000367384:N118K;ENSP00000367378:N118K	ENSP00000367378:N118K	N	+	3	2	GPR34	41440184	0.324000	0.24652	0.938000	0.37757	0.998000	0.95712	0.991000	0.29654	0.596000	0.29794	0.594000	0.82650	AAC		0.368	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300		9	212	0	0	0	0.006214	0	9	212				
RP2	6102	broad.mit.edu	37	X	46713257	46713257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chrX:46713257G>A	ENST00000218340.3	+	2	610	c.449G>A	c.(448-450)tGg>tAg	p.W150*		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	150	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				cell morphogenesis (GO:0000902)|CTP biosynthetic process (GO:0006241)|cytoskeleton organization (GO:0007010)|GTP biosynthetic process (GO:0006183)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein transport (GO:0015031)|UTP biosynthetic process (GO:0006228)|visual perception (GO:0007601)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|periciliary membrane compartment (GO:1990075)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|nucleoside diphosphate kinase activity (GO:0004550)|unfolded protein binding (GO:0051082)	p.W150*(1)		NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						TGTTTTCAATGGTACTATCCT	0.388																																							uc004dgw.3		NA																	1	Substitution - Nonsense(1)		lung(1)		0	GRCh37	CM013031	RP2	M		c.(448-450)TGG>TAG		XRP2 protein							111.0	101.0	104.0					X																	46713257		2203	4300	6503	SO:0001587	stop_gained	6102				cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding	g.chrX:46713257G>A	AJ007590	CCDS14270.1	Xp11.3	2013-01-08			ENSG00000102218	ENSG00000102218			10274	protein-coding gene	gene with protein product		300757				6325945, 9697692, 19852809	Standard	NM_006915		Approved	TBCCD2, NME10, NM23-H10	uc004dgw.4	O75695	OTTHUMG00000021430	ENST00000218340.3:c.449G>A	X.37:g.46713257G>A	ENSP00000218340:p.Trp150*						p.W150*	NM_006915	NP_008846	O75695	XRP2_HUMAN			2	638	+			150			C-CAP/cofactor C-like.		Q86XJ7|Q9NU67	Nonsense_Mutation	SNP	ENST00000218340.3	37	c.449G>A	CCDS14270.1	.	.	.	.	.	.	.	.	.	.	G	36	5.824552	0.96989	.	.	ENSG00000102218	ENST00000218340	.	.	.	5.62	3.66	0.41972	.	0.437398	0.27640	N	0.018479	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-23.7323	0.4458	0.00493	0.2103:0.1679:0.3102:0.3116	.	.	.	.	X	150	.	ENSP00000218340:W150X	W	+	2	0	RP2	46598201	1.000000	0.71417	0.989000	0.46669	0.994000	0.84299	4.537000	0.60643	1.115000	0.41800	0.513000	0.50165	TGG		0.388	RP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056375.1	NM_006915		6	76	0	0	0	0.001168	0	6	76				
HUWE1	10075	broad.mit.edu	37	X	53672299	53672299	+	Missense_Mutation	SNP	C	C	G			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chrX:53672299C>G	ENST00000342160.3	-	6	925	c.468G>C	c.(466-468)agG>agC	p.R156S	HUWE1_ENST00000218328.8_Missense_Mutation_p.R156S|HUWE1_ENST00000262854.6_Missense_Mutation_p.R156S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	156					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.R156S(2)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GCAGCGGGGTCCTCTTGTCAG	0.473																																							uc004dsp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(466-468)AGG>AGC		HECT, UBA and WWE domain containing 1							82.0	69.0	74.0					X																	53672299		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53672299C>G	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.468G>C	X.37:g.53672299C>G	ENSP00000340648:p.Arg156Ser						p.R156S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			7	870	-			156					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.468G>C	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.363971	0.61513	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000432528	T;T;T	0.64803	-0.06;-0.06;-0.12	5.02	1.9	0.25705	Armadillo-like helical (1);E3 ubiquitin ligase, domain of unknown function DUF908 (1);Armadillo-type fold (1);	1.526930	0.04272	N	0.342259	T	0.74176	0.3682	M	0.68952	2.095	0.45239	D	0.998245	D	0.65815	0.995	P	0.60415	0.874	T	0.59451	-0.7452	10	0.87932	D	0	.	6.8197	0.23851	0.0:0.5119:0.0:0.4881	.	156	Q7Z6Z7	HUWE1_HUMAN	S	156	ENSP00000340648:R156S;ENSP00000262854:R156S;ENSP00000218328:R156S	ENSP00000218328:R156S	R	-	3	2	HUWE1	53689024	0.695000	0.27747	0.999000	0.59377	0.873000	0.50193	-0.230000	0.09083	0.215000	0.20761	0.600000	0.82982	AGG		0.473	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		4	82	0	0	0	0.009096	0	4	82				
TEX11	56159	broad.mit.edu	37	X	69960640	69960640	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chrX:69960640C>T	ENST00000395889.2	-	12	954	c.799G>A	c.(799-801)Gtt>Att	p.V267I	TEX11_ENST00000374333.2_Missense_Mutation_p.V252I|TEX11_ENST00000344304.3_Missense_Mutation_p.V267I	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	267					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.V252I(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGCCGTAGAACTTTAGCCTGT	0.383																																							uc004dyl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(799-801)GTT>ATT		testis expressed sequence 11 isoform 1							71.0	59.0	63.0					X																	69960640		2203	4299	6502	SO:0001583	missense	56159						protein binding	g.chrX:69960640C>T	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.799G>A	X.37:g.69960640C>T	ENSP00000379226:p.Val267Ile					TEX11_uc004dym.2_Missense_Mutation_p.V252I	p.V267I	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN			12	961	-	Renal(35;0.156)		267					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.799G>A	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	3.180	-0.168038	0.06461	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000344304	T;T;T	0.63255	-0.03;-0.03;-0.03	4.5	0.629	0.17687	Tetratricopeptide-like helical (1);	0.581333	0.16157	N	0.226977	T	0.48822	0.1521	L	0.46157	1.445	0.80722	D	1	B;B	0.20261	0.008;0.043	B;B	0.20955	0.019;0.032	T	0.20075	-1.0286	9	.	.	.	-1.3275	7.0526	0.25081	0.0:0.585:0.0:0.415	.	252;267	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	I	252;267;267	ENSP00000363453:V252I;ENSP00000379226:V267I;ENSP00000340995:V267I	.	V	-	1	0	TEX11	69877365	0.998000	0.40836	0.653000	0.29593	0.056000	0.15407	0.662000	0.25038	-0.206000	0.10203	-0.273000	0.10243	GTT		0.383	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			3	30	0	0	0	0.004672	0	3	30				
ATRX	546	broad.mit.edu	37	X	76937732	76937732	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chrX:76937732C>T	ENST00000373344.5	-	9	3230	c.3016G>A	c.(3016-3018)Gaa>Aaa	p.E1006K	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E968K	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1006					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.E1006K(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TACTGTTGTTCCATTTTAATT	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																uc004ecp.3		NA		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		3	Substitution - Missense(2)|Unknown(1)		lung(2)|bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(3016-3018)GAA>AAA		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						71.0	74.0	73.0					X																	76937732		2194	4277	6471	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76937732C>T	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3016G>A	X.37:g.76937732C>T	ENSP00000362441:p.Glu1006Lys					ATRX_uc004ecq.3_Missense_Mutation_p.E968K|ATRX_uc004eco.3_Missense_Mutation_p.E791K|ATRX_uc004ecr.2_Missense_Mutation_p.E938K|ATRX_uc010nlx.1_Missense_Mutation_p.E977K|ATRX_uc010nly.1_Missense_Mutation_p.E951K	p.E1006K	NM_000489	NP_000480	P46100	ATRX_HUMAN			9	3248	-			1006					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.3016G>A	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.328342	0.24080	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.93076	-3.14;-3.16	5.56	5.56	0.83823	.	0.693040	0.13964	N	0.350658	D	0.89619	0.6767	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.15473	0.0;0.013;0.0;0.0	B;B;B;B	0.12156	0.001;0.007;0.003;0.001	D	0.83886	0.0282	10	0.27785	T	0.31	-8.7893	17.1296	0.86723	0.0:1.0:0.0:0.0	.	1006;938;968;1006	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	K	1006;968;933	ENSP00000362441:E1006K;ENSP00000378967:E968K	ENSP00000362441:E1006K	E	-	1	0	ATRX	76824388	0.886000	0.30341	0.242000	0.24170	0.813000	0.45954	1.609000	0.36858	2.310000	0.77875	0.513000	0.50165	GAA		0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		5	154	0	0	0	0.001984	0	5	154				
DACH2	117154	broad.mit.edu	37	X	86067912	86067912	+	Missense_Mutation	SNP	C	C	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chrX:86067912C>A	ENST00000373125.4	+	8	1294	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M	DACH2_ENST00000510272.1_Missense_Mutation_p.L213M|DACH2_ENST00000373131.1_Missense_Mutation_p.L419M|DACH2_ENST00000508860.1_Missense_Mutation_p.L265M	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	432					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L432M(1)|p.L419M(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CAAGATACAGCTGACTCCTGG	0.448																																							uc004eew.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(1294-1296)CTG>ATG		dachshund 2 isoform a							67.0	61.0	63.0					X																	86067912		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:86067912C>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1294C>A	X.37:g.86067912C>A	ENSP00000362217:p.Leu432Met					DACH2_uc004eex.2_Missense_Mutation_p.L419M|DACH2_uc010nmq.2_Missense_Mutation_p.L298M|DACH2_uc011mra.1_Missense_Mutation_p.L265M|DACH2_uc010nmr.2_Missense_Mutation_p.L213M|DACH2_uc004eey.2_Missense_Mutation_p.L115M|DACH2_uc004eez.2_Missense_Mutation_p.L115M	p.L432M	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			8	1464	+			432					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1294C>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726383	0.48833	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.84370	-1.83;-1.84	4.75	0.915	0.19366	.	0.000000	0.51477	D	0.000092	D	0.88496	0.6452	L	0.61218	1.895	0.37144	D	0.90185	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.984;0.989;0.974;0.961	D	0.85618	0.1262	10	0.38643	T	0.18	.	8.9067	0.35528	0.0:0.5978:0.0:0.4022	.	298;432;419;432	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	M	432;419;432;265;213;265;87	ENSP00000362223:L419M;ENSP00000362217:L432M	ENSP00000345134:L432M	L	+	1	2	DACH2	85954568	0.766000	0.28496	0.786000	0.31890	0.952000	0.60782	1.263000	0.33004	-0.272000	0.09259	0.513000	0.50165	CTG		0.448	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		3	26	1	0	0.000602214	0.014758	0.000660763	3	26				
DACH2	117154	broad.mit.edu	37	X	86069769	86069769	+	Missense_Mutation	SNP	G	G	T	rs143491219		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chrX:86069769G>T	ENST00000373125.4	+	10	1616	c.1616G>T	c.(1615-1617)cGc>cTc	p.R539L	DACH2_ENST00000510272.1_Missense_Mutation_p.R320L|DACH2_ENST00000373131.1_Missense_Mutation_p.R526L|DACH2_ENST00000508860.1_Missense_Mutation_p.R372L	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	539					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R526L(1)|p.R539L(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GAATCAAAGCGCCGGGAGCAA	0.438																																							uc004eew.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(1615-1617)CGC>CTC		dachshund 2 isoform a							59.0	54.0	55.0					X																	86069769		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:86069769G>T	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1616G>T	X.37:g.86069769G>T	ENSP00000362217:p.Arg539Leu					DACH2_uc004eex.2_Missense_Mutation_p.R526L|DACH2_uc010nmq.2_Missense_Mutation_p.R405L|DACH2_uc011mra.1_Missense_Mutation_p.R372L|DACH2_uc010nmr.2_Missense_Mutation_p.R320L|DACH2_uc004eey.2_Missense_Mutation_p.R232L|DACH2_uc004eez.2_Missense_Mutation_p.R222L	p.R539L	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			10	1786	+			539			Potential.		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1616G>T	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.683007	0.68157	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.88124	-2.34;-2.28	4.76	3.88	0.44766	.	0.000000	0.64402	D	0.000011	D	0.89431	0.6713	L	0.61218	1.895	0.46954	D	0.999268	P;P;D;P	0.61697	0.722;0.938;0.99;0.744	B;P;P;B	0.56127	0.434;0.715;0.792;0.206	D	0.87010	0.2122	10	0.30854	T	0.27	.	13.5432	0.61686	0.0:0.0:0.8429:0.1571	.	405;539;526;539	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	L	539;526;539;372;320;372;204	ENSP00000362223:R526L;ENSP00000362217:R539L	ENSP00000345134:R539L	R	+	2	0	DACH2	85956425	1.000000	0.71417	0.375000	0.26029	0.909000	0.53808	7.400000	0.79949	0.767000	0.33267	0.415000	0.27848	CGC		0.438	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		5	56	1	0	5.9392e-07	0.001168	7.05559e-07	5	56				
COL4A5	1287	broad.mit.edu	37	X	107802324	107802324	+	Missense_Mutation	SNP	C	C	T	rs372805446		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chrX:107802324C>T	ENST00000361603.2	+	3	416	c.172C>T	c.(172-174)Cac>Tac	p.H58Y	COL4A5_ENST00000328300.6_Missense_Mutation_p.H58Y	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	58	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)	p.H58Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTGGAAGGACACCCAGGATT	0.468									Alport syndrome with Diffuse Leiomyomatosis																														uc004enz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(172-174)CAC>TAC		type IV collagen alpha 5 isoform 2 precursor		C	TYR/HIS,TYR/HIS	0,3835		0,0,0,1632,571	119.0	111.0	114.0		172,172	5.6	1.0	X		114	1,6727		0,0,1,2428,1871	no	missense,missense	COL4A5	NM_000495.3,NM_033380.1	83,83	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	possibly-damaging,possibly-damaging	58/1686,58/1692	107802324	1,10562	2203	4300	6503	SO:0001583	missense	1287	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107802324C>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.172C>T	X.37:g.107802324C>T	ENSP00000354505:p.His58Tyr					COL4A5_uc011mso.1_Missense_Mutation_p.H58Y	p.H58Y	NM_033380	NP_203699	P29400	CO4A5_HUMAN			3	374	+			58			Triple-helical region.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.172C>T	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017393	0.35606	0.0	1.49E-4	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.95171	-3.63;-3.63	5.6	5.6	0.85130	.	0.130370	0.53938	D	0.000046	D	0.88392	0.6424	N	0.05574	-0.02	0.42686	D	0.993566	P;P	0.43607	0.812;0.812	P;P	0.45753	0.492;0.492	D	0.87180	0.2227	10	0.02654	T	1	.	17.2787	0.87122	0.0:1.0:0.0:0.0	.	58;58	E7EVY4;P29400	.;CO4A5_HUMAN	Y	58	ENSP00000331902:H58Y;ENSP00000354505:H58Y	ENSP00000331902:H58Y	H	+	1	0	COL4A5	107688980	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	6.412000	0.73303	2.347000	0.79759	0.544000	0.68410	CAC		0.468	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			5	164	0	0	0	0.014758	0	5	164				
NKAP	79576	broad.mit.edu	37	X	119064115	119064115	+	Missense_Mutation	SNP	G	G	C			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chrX:119064115G>C	ENST00000371410.3	-	8	1103	c.937C>G	c.(937-939)Ctg>Gtg	p.L313V	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	313	Necessary for interaction with HDAC3 and transcriptional repression.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.L313V(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CCAGGTAACAGAGCATGGCCA	0.378																																							uc004esh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(937-939)CTG>GTG		NFKB activating protein							104.0	91.0	95.0					X																	119064115		2203	4300	6503	SO:0001583	missense	79576				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	g.chrX:119064115G>C	BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.937C>G	X.37:g.119064115G>C	ENSP00000360464:p.Leu313Val					NKAP_uc004esg.2_Missense_Mutation_p.L200V	p.L313V	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN			8	1104	-			313			Necessary for interaction with HDAC3 and transcriptional repression.		Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	37	c.937C>G	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631999	0.67015	.	.	ENSG00000101882	ENST00000371410	T	0.40476	1.03	5.42	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.70020	0.3176	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76898	-0.2789	10	0.87932	D	0	-6.6991	12.4	0.55407	0.0816:0.0:0.9184:0.0	.	313	Q8N5F7	NKAP_HUMAN	V	313	ENSP00000360464:L313V	ENSP00000360464:L313V	L	-	1	2	NKAP	118948143	1.000000	0.71417	0.992000	0.48379	0.965000	0.64279	4.578000	0.60929	1.282000	0.44496	-0.192000	0.12808	CTG		0.378	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528		4	100	0	0	0	0.009096	0	4	100				
CT47B1	643311	broad.mit.edu	37	X	120008753	120008753	+	Missense_Mutation	SNP	C	C	T			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chrX:120008753C>T	ENST00000371311.3	-	1	1026	c.772G>A	c.(772-774)Gag>Aag	p.E258K		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	258										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCCTTACCCTCGGGGGCCACG	0.687																																							uc011muc.1		NA																	0					0						c.(772-774)GAG>AAG		cancer/testis antigen family 147, member B1							28.0	26.0	26.0					X																	120008753		692	1590	2282	SO:0001583	missense	643311							g.chrX:120008753C>T		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.772G>A	X.37:g.120008753C>T	ENSP00000360360:p.Glu258Lys						p.E258K	NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN			1	1027	-			258					A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	c.772G>A	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	4.991	0.184124	0.09495	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.31	-1.03	0.10102	.	.	.	.	.	T	0.13030	0.0316	N	0.19112	0.55	0.09310	N	1	P	0.36065	0.535	B	0.20767	0.031	T	0.11743	-1.0575	8	0.48119	T	0.1	.	4.2046	0.10483	0.0:0.5161:0.0:0.4839	.	258	P0C2W7	CT47B_HUMAN	K	258	.	ENSP00000360360:E258K	E	-	1	0	CT47B1	119892781	0.002000	0.14202	0.000000	0.03702	0.014000	0.08584	0.141000	0.16076	-0.420000	0.07427	0.171000	0.16805	GAG		0.687	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		9	252	0	0	0	0.004482	0	9	252				
SLITRK4	139065	broad.mit.edu	37	X	142717050	142717050	+	Missense_Mutation	SNP	T	T	A			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chrX:142717050T>A	ENST00000381779.4	-	2	2100	c.1875A>T	c.(1873-1875)ttA>ttT	p.L625F	SLITRK4_ENST00000356928.1_Missense_Mutation_p.L625F|SLITRK4_ENST00000338017.4_Missense_Mutation_p.L625F	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	625						integral component of membrane (GO:0016021)		p.L625F(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGACCACTAAGATACTTA	0.483																																							uc004fbx.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(1873-1875)TTA>TTT		slit and trk like 4 protein precursor							77.0	78.0	78.0					X																	142717050		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142717050T>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1875A>T	X.37:g.142717050T>A	ENSP00000371198:p.Leu625Phe					SLITRK4_uc004fby.2_Missense_Mutation_p.L625F	p.L625F	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	2251	-	Acute lymphoblastic leukemia(192;6.56e-05)		625			Helical; (Potential).		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1875A>T	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.563877	0.45694	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.65549	-0.16;-0.16;-0.16	5.36	-3.24	0.05094	.	0.000000	0.64402	U	0.000010	T	0.70395	0.3219	M	0.65975	2.015	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.70306	-0.4908	10	0.87932	D	0	-4.5693	9.2327	0.37448	0.0:0.6366:0.1533:0.21	.	625	Q8IW52	SLIK4_HUMAN	F	625	ENSP00000371198:L625F;ENSP00000349400:L625F;ENSP00000336627:L625F	ENSP00000336627:L625F	L	-	3	2	SLITRK4	142544716	0.559000	0.26562	0.987000	0.45799	0.996000	0.88848	-0.254000	0.08781	-0.327000	0.08551	0.417000	0.27973	TTA		0.483	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		15	95	0	0	0	0.020292	0	15	95				
LDHA	3939	broad.mit.edu	37	11	18427087	18427087	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr11:18427087delA	ENST00000422447.3	+	7	1075	c.802delA	c.(802-804)aggfs	p.R269fs	LDHA_ENST00000396222.2_Intron|AC084117.3_ENST00000496975.2_RNA|LDHA_ENST00000379412.5_Frame_Shift_Del_p.R269fs|LDHA_ENST00000430553.2_Frame_Shift_Del_p.R211fs|LDHA_ENST00000542179.1_Frame_Shift_Del_p.R269fs|LDHA_ENST00000540430.1_Frame_Shift_Del_p.R298fs|LDHA_ENST00000227157.4_Intron	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	269					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						GAAGAATCTTAGGCGGGTGCA	0.413																																							uc001mok.3		NA																	0				central_nervous_system(3)	3						c.(802-804)AGGfs		lactate dehydrogenase A isoform 1	NADH(DB00157)						111.0	112.0	112.0					11																	18427087		2199	4293	6492	SO:0001589	frameshift_variant	3939				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding	g.chr11:18427087delA	X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.802delA	11.37:g.18427087delA	ENSP00000395337:p.Arg269fs					LDHA_uc010rdc.1_Frame_Shift_Del_p.R210fs|LDHA_uc009yhn.2_Frame_Shift_Del_p.R267fs|LDHA_uc009yho.2_Frame_Shift_Del_p.R95fs|LDHA_uc001mol.3_Intron|LDHA_uc010rdd.1_Frame_Shift_Del_p.R297fs	p.R268fs	NM_005566	NP_005557	P00338	LDHA_HUMAN			7	1074	+			268					B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Frame_Shift_Del	DEL	ENST00000422447.3	37	c.802delA	CCDS7839.1																																																																																				0.413	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566		11	127	NA	NA	NA	NA	NA	11	127	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21974763	21974763	+	Frame_Shift_Del	DEL	G	G	-	rs374921006		TCGA-50-6595-01A-12D-1855-08	TCGA-50-6595-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9913e506-fc98-467d-8601-89595d0475e8	fd324b71-23d4-4083-ae48-1d4151970714	g.chr9:21974763delG	ENST00000304494.5	-	1	334	c.64delC	c.(64-66)cggfs	p.R22fs	CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.R22fs|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.R22fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.R22fs|CDKN2A_ENST00000361570.3_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	22					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.0(1)|p.R22fs*14(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		ACCCGACCCCGGGCCGCGGCC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																													uc003zpk.2		17																	1341	Whole gene deletion(1316)|Unknown(23)|Deletion - Frameshift(2)	p.0?(1112)|p.?(23)|p.R22P(1)|p.R22fs*14(1)|p.S12fs*20(1)	haematopoietic_and_lymphoid_tissue(279)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(47)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678						c.(64-66)CGGfs		cyclin-dependent kinase inhibitor 2A isoform 1							14.0	19.0	17.0					9																	21974763		1863	3820	5683	SO:0001589	frameshift_variant	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21974763delG	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.64delC	9.37:g.21974763delG	ENSP00000307101:p.Arg22fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Frame_Shift_Del_p.R22fs|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	p.R22fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	276	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	22			ANK 1.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.64delC	CCDS6510.1																																																																																				0.736	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		12	56	NA	NA	NA	NA	NA	12	56	---	---	---	---
