#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CUL9	23113	broad.mit.edu	37	6	43164458	43164458	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr6:43164458G>T	ENST00000252050.4	+	11	2745	c.2661G>T	c.(2659-2661)caG>caT	p.Q887H	CUL9_ENST00000372647.2_Missense_Mutation_p.Q887H|CUL9_ENST00000354495.3_Missense_Mutation_p.Q777H	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	887					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGGGAGACCAGATTATAACCC	0.517																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(2659-2661)caG>caT		cullin 9							199.0	178.0	185.0					6																	43164458		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43164458G>T	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2661G>T	6.37:g.43164458G>T	ENSP00000252050:p.Gln887His					CUL9_ENST00000372647.2_Missense_Mutation_p.Q887H|CUL9_ENST00000354495.3_Missense_Mutation_p.Q777H	p.Q887H	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			11	2745	+			887					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.2661G>T	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383816	0.42308	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.78126	-1.15;-1.15;-1.07	5.61	3.56	0.40772	Armadillo-type fold (1);	0.060739	0.64402	N	0.000003	T	0.52645	0.1747	L	0.46157	1.445	0.40296	D	0.978553	B;B;B	0.20671	0.047;0.001;0.001	B;B;B	0.19946	0.027;0.001;0.001	T	0.59679	-0.7409	10	0.62326	D	0.03	-3.9384	3.9431	0.09336	0.1358:0.0:0.6262:0.238	.	777;887;887	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	H	887;777;887	ENSP00000252050:Q887H;ENSP00000346490:Q777H;ENSP00000361730:Q887H	ENSP00000252050:Q887H	Q	+	3	2	CUL9	43272436	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.042000	0.41222	1.370000	0.46153	0.655000	0.94253	CAG		0.517	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		4	99	1	0	0.150653	1	0.150653	4	99				
FAM160A2	84067	broad.mit.edu	37	11	6236077	6236077	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:6236077G>T	ENST00000449352.2	-	10	2543	c.2280C>A	c.(2278-2280)aaC>aaA	p.N760K	FAM160A2_ENST00000265978.4_Missense_Mutation_p.N774K|FAM160A2_ENST00000529360.1_5'UTR			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	760					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCAGCAGGAAGTTGACATAGA	0.597																																						ENST00000265978.4																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2320-2322)aaC>aaA		family with sequence similarity 160, member A2							56.0	46.0	49.0					11																	6236077		2201	4296	6497	SO:0001583	missense	84067				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	g.chr11:6236077G>T		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2280C>A	11.37:g.6236077G>T	ENSP00000416918:p.Asn760Lys					FAM160A2_ENST00000449352.2_Missense_Mutation_p.N760K|FAM160A2_ENST00000529360.1_5'UTR	p.N774K	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN			10	2680	-			760					Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	c.2322C>A	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	g	23.3	4.402590	0.83230	.	.	ENSG00000051009	ENST00000449352;ENST00000265978	T;T	0.33438	1.47;1.41	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	M	0.80847	2.515	0.80722	D	1	D;D	0.64830	0.989;0.994	P;P	0.60345	0.749;0.873	T	0.62765	-0.6785	10	0.87932	D	0	-9.9884	16.8551	0.86004	0.0:0.0:1.0:0.0	.	760;774	Q8N612;Q8N612-2	F16A2_HUMAN;.	K	760;774	ENSP00000416918:N760K;ENSP00000265978:N774K	ENSP00000265978:N774K	N	-	3	2	FAM160A2	6192653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.586000	0.82596	2.462000	0.83206	0.550000	0.68814	AAC		0.597	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127		21	1	1	0	1.50039e-11	1	1.64232e-11	21	1				
ZNF296	162979	broad.mit.edu	37	19	45575175	45575175	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr19:45575175G>C	ENST00000303809.2	-	3	1326	c.1112C>G	c.(1111-1113)cCc>cGc	p.P371R		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	371					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CATCTTTTTGGGTGATGCCTT	0.612																																						ENST00000303809.2																			0				breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						c.(1111-1113)cCc>cGc		zinc finger protein 296							89.0	90.0	90.0					19																	45575175		2203	4300	6503	SO:0001583	missense	162979				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:45575175G>C	BC019352	CCDS12653.1	19q13.32	2013-01-08	2008-06-24	2008-06-24		ENSG00000170684		"""Zinc fingers, C2H2-type"""	15981	protein-coding gene	gene with protein product		613226	"""zinc finger protein 342"""	ZNF342		11063263, 14633674	Standard	NM_145288		Approved		uc002pao.3	Q8WUU4		ENST00000303809.2:c.1112C>G	19.37:g.45575175G>C	ENSP00000302770:p.Pro371Arg						p.P371R	NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN			3	1326	-			371						Missense_Mutation	SNP	ENST00000303809.2	37	c.1112C>G	CCDS12653.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887009	0.33348	.	.	ENSG00000170684	ENST00000303809;ENST00000545481	T	0.06218	3.33	5.11	2.87	0.33458	.	0.297383	0.24722	N	0.036138	T	0.12561	0.0305	L	0.29908	0.895	0.24219	N	0.995444	D	0.89917	1.0	D	0.85130	0.997	T	0.03761	-1.1006	10	0.49607	T	0.09	-14.7647	9.2868	0.37762	0.0871:0.1508:0.7622:0.0	.	371	Q8WUU4	ZN296_HUMAN	R	371;347	ENSP00000302770:P371R	ENSP00000302770:P371R	P	-	2	0	ZNF296	50267015	0.007000	0.16637	0.488000	0.27440	0.181000	0.23173	0.146000	0.16180	1.232000	0.43678	0.563000	0.77884	CCC		0.612	ZNF296-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457529.1	NM_145288		5	217	0	0	0	1	0	5	217				
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R	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	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)	GCAGCGCTCATGGTGGGGGCA	0.642		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)	ENST00000420246.2		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"""		217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(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						c.(535-537)cAt>cGt	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578394		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578394T>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.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	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_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	668	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.536A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	18	0	0	0	1	0	22	18				
USH2A	7399	broad.mit.edu	37	1	216246463	216246463	+	Missense_Mutation	SNP	C	C	T	rs529355834		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:216246463C>T	ENST00000307340.3	-	28	6138	c.5752G>A	c.(5752-5754)Gag>Aag	p.E1918K	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.E1918K|RP11-22M7.2_ENST00000445619.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1918	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGACCACCCTCGTAAACACTC	0.478										HNSCC(13;0.011)			C|||	1	0.000199681	0.0	0.0	5008	,	,		17998	0.0		0.0	False		,,,				2504	0.001					ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(5752-5754)Gag>Aag		Usher syndrome 2A (autosomal recessive, mild)							84.0	76.0	79.0					1																	216246463		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216246463C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5752G>A	1.37:g.216246463C>T	ENSP00000305941:p.Glu1918Lys	HNSCC(13;0.011)				RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.E1918K|RP11-22M7.2_ENST00000446411.1_RNA	p.E1918K			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	28	6138	-			1918			Fibronectin type-III 5.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5752G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885996	0.91814	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.39056	1.1;1.1	5.76	5.76	0.90799	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.146825	0.30850	N	0.008749	T	0.39172	0.1068	L	0.57536	1.79	0.53005	D	0.999968	P	0.48640	0.913	B	0.34038	0.174	T	0.37911	-0.9685	10	0.36615	T	0.2	.	19.9857	0.97347	0.0:1.0:0.0:0.0	.	1918	O75445	USH2A_HUMAN	K	1918	ENSP00000305941:E1918K;ENSP00000355910:E1918K	ENSP00000305941:E1918K	E	-	1	0	USH2A	214313086	1.000000	0.71417	0.123000	0.21794	0.901000	0.52897	5.233000	0.65337	2.706000	0.92434	0.655000	0.94253	GAG		0.478	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		14	16	0	0	0	1	0	14	16				
PPL	5493	broad.mit.edu	37	16	4949275	4949275	+	Silent	SNP	G	G	A	rs140083031		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr16:4949275G>A	ENST00000345988.2	-	7	806	c.717C>T	c.(715-717)taC>taT	p.Y239Y	PPL_ENST00000590782.2_Silent_p.Y237Y	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	239					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CACTCCAGTCGTACTGCATGC	0.657													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15491	0.0		0.0	False		,,,				2504	0.0					ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(715-717)taC>taT		periplakin		G		4,4390	8.1+/-20.4	0,4,2193	56.0	45.0	49.0		717	-5.8	0.9	16	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous	PPL	NM_002705.4		0,4,6493	AA,AG,GG		0.0,0.091,0.0308		239/1757	4949275	4,12990	2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4949275G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.717C>T	16.37:g.4949275G>A						PPL_ENST00000590782.2_Silent_p.Y237Y	p.Y239Y	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			7	806	-			239					O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.717C>T	CCDS10526.1																																																																																				0.657	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		15	32	0	0	0	1	0	15	32				
ABCA9	10350	broad.mit.edu	37	17	67008130	67008130	+	Missense_Mutation	SNP	A	A	G	rs144122311	byFrequency	TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:67008130A>G	ENST00000340001.4	-	23	3345	c.3134T>C	c.(3133-3135)aTt>aCt	p.I1045T	ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000453985.2_Missense_Mutation_p.I1045T|ABCA9_ENST00000370732.2_Missense_Mutation_p.I1045T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1045					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GTAGTCACCAATGCTGCTCAT	0.403													A|||	2	0.000399361	0.0	0.0014	5008	,	,		21085	0.0		0.0	False		,,,				2504	0.001					ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(3133-3135)aTt>aCt		ATP-binding cassette, sub-family A (ABC1), member 9		A	THR/ILE	2,4404	4.2+/-10.8	0,2,2201	126.0	106.0	113.0		3134	4.0	0.4	17	dbSNP_134	113	2,8598	2.2+/-6.3	0,2,4298	no	missense	ABCA9	NM_080283.3	89	0,4,6499	GG,GA,AA		0.0233,0.0454,0.0308	benign	1045/1625	67008130	4,13002	2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67008130A>G	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.3134T>C	17.37:g.67008130A>G	ENSP00000342216:p.Ile1045Thr					ABCA9-AS1_ENST00000458677.1_RNA|ABCA9_ENST00000370732.2_Missense_Mutation_p.I1045T|ABCA9_ENST00000453985.2_Missense_Mutation_p.I1045T	p.I1045T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			23	3345	-	Breast(10;1.47e-12)		1045					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.3134T>C	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	A	10.18	1.280593	0.23392	4.54E-4	2.33E-4	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.88201	-2.35;-2.35	5.05	3.97	0.46021	.	0.145632	0.30593	N	0.009294	D	0.88735	0.6517	L	0.53617	1.68	0.28704	N	0.903906	P;B	0.43633	0.813;0.035	P;B	0.51453	0.67;0.144	T	0.83170	-0.0094	10	0.52906	T	0.07	.	6.9208	0.24387	0.8177:0.0:0.1823:0.0	.	1045;1045	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	T	1045;1028;1045;1040	ENSP00000342216:I1045T;ENSP00000359767:I1045T	ENSP00000342216:I1045T	I	-	2	0	ABCA9	64519725	0.976000	0.34144	0.414000	0.26521	0.130000	0.20726	2.844000	0.48246	0.875000	0.35847	-0.274000	0.10170	ATT		0.403	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		21	16	0	0	0	1	0	21	16				
OR2W1	26692	broad.mit.edu	37	6	29012269	29012269	+	Silent	SNP	C	C	T	rs144276666		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr6:29012269C>T	ENST00000377175.1	-	1	748	c.684G>A	c.(682-684)acG>acA	p.T228T		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T228T(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CTTTTGACTTCGTTCTCAGCA	0.393																																						ENST00000377175.1																			1	Substitution - coding silent(1)	p.T228T(1)	skin(1)	endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						c.(682-684)acG>acA		olfactory receptor, family 2, subfamily W, member 1							140.0	137.0	138.0					6																	29012269		1511	2709	4220	SO:0001819	synonymous_variant	26692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29012269C>T	AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.684G>A	6.37:g.29012269C>T							p.T228T	NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN			1	748	-			228					B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Silent	SNP	ENST00000377175.1	37	c.684G>A	CCDS4656.1																																																																																				0.393	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			26	63	0	0	0	1	0	26	63				
GM2A	2760	broad.mit.edu	37	5	150646988	150646988	+	Silent	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr5:150646988C>T	ENST00000357164.3	+	4	883	c.558C>T	c.(556-558)atC>atT	p.I186I		NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	GM2 ganglioside activator	186					ganglioside catabolic process (GO:0006689)|glycosphingolipid metabolic process (GO:0006687)|learning or memory (GO:0007611)|lipid storage (GO:0019915)|neuromuscular process controlling balance (GO:0050885)|oligosaccharide catabolic process (GO:0009313)|positive regulation of hydrolase activity (GO:0051345)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	apical cortex (GO:0045179)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|mitochondrion (GO:0005739)	beta-N-acetylhexosaminidase activity (GO:0004563)|lipid transporter activity (GO:0005319)|phospholipase activator activity (GO:0016004)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCATCAAGATCGCTGCCTCTC	0.557																																						ENST00000357164.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8						c.(556-558)atC>atT		GM2 ganglioside activator							96.0	91.0	93.0					5																	150646988		2203	4300	6503	SO:0001819	synonymous_variant	2760					lysosome|nucleolus	sphingolipid activator protein activity	g.chr5:150646988C>T		CCDS4313.1	5q33.1	2010-03-17	2004-05-20		ENSG00000196743	ENSG00000196743			4367	protein-coding gene	gene with protein product	"""cerebroside sulfate activator protein"", ""sphingolipid activator protein 3"""	613109	"""GM2 ganglioside activator protein"""			115863, 1915857	Standard	NM_000405		Approved	SAP-3	uc003ltr.4	P17900	OTTHUMG00000130124	ENST00000357164.3:c.558C>T	5.37:g.150646988C>T							p.I186I	NM_000405.4|NM_001167607.1	NP_000396.2|NP_001161079.1	P17900	SAP3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	883	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	186					B2R699|D3DQH6|Q14426|Q14428|Q6LBL5	Silent	SNP	ENST00000357164.3	37	c.558C>T	CCDS4313.1																																																																																				0.557	GM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252432.1	NM_000405		8	34	0	0	0	1	0	8	34				
TINF2	26277	broad.mit.edu	37	14	24709663	24709663	+	Silent	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr14:24709663C>T	ENST00000267415.7	-	6	1364	c.1023G>A	c.(1021-1023)aaG>aaA	p.K341K	TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000558510.1_5'Flank|TINF2_ENST00000399423.4_Silent_p.K341K|TINF2_ENST00000538777.1_Silent_p.K127K|TINF2_ENST00000540705.1_Silent_p.K306K	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	341					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CTGGGTTCTCCTTCAGAGCCC	0.532									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																													ENST00000399423.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7						c.(1021-1023)aaG>aaA		TERF1 (TRF1)-interacting nuclear factor 2							65.0	65.0	65.0					14																	24709663		1975	4163	6138	SO:0001819	synonymous_variant	26277	Congenital Dyskeratosis;Ataxia Pancytopenia syndrome	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding	g.chr14:24709663C>T	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.1023G>A	14.37:g.24709663C>T						TINF2_ENST00000538777.1_Silent_p.K127K|TINF2_ENST00000540705.1_Silent_p.K306K|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000267415.7_Silent_p.K341K	p.K341K	NM_012461.2	NP_036593.2	Q9BSI4	TINF2_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	6	1353	-			341					B3W5Q7|Q9H904|Q9UHC2	Silent	SNP	ENST00000267415.7	37	c.1023G>A	CCDS41936.1																																																																																				0.532	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2			16	14	0	0	0	1	0	16	14				
MT-CO1	4512	broad.mit.edu	37	M	5979	5979	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chrM:5979G>A	ENST00000361624.2	+	1	76	c.76G>A	c.(76-78)Gct>Act	p.A26T	MT-TQ_ENST00000387372.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-CO2_ENST00000361739.1_5'Flank			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	26					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TCGGCGCATGAGCTGGAGTCC	0.502																																						ENST00000361624.2																			0				breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						c.(76-78)Gct>Act		mitochondrially encoded cytochrome c oxidase I																																				SO:0001583	missense	4512							g.chrM:5979G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.76G>A	M.37:g.5979G>A	ENSP00000354499:p.Ala26Thr						p.26_26insT							1	76	+								Q34770	Missense_Mutation	SNP	ENST00000361624.2	37	c.76G>A																																																																																					0.502	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		19	71	0	0	0	1	0	19	71				
PCDHB2	56133	broad.mit.edu	37	5	140475626	140475626	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr5:140475626G>A	ENST00000194155.4	+	1	1400	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	418	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACCAGATCCGAATACAACAT	0.517																																						ENST00000194155.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1252-1254)Gaa>Aaa									135.0	125.0	128.0					5																	140475626		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475626G>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1252G>A	5.37:g.140475626G>A	ENSP00000194155:p.Glu418Lys						p.E418K	NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1400	+			418			Cadherin 4.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1252G>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	9.118	1.008182	0.19199	.	.	ENSG00000112852	ENST00000194155	T	0.01705	4.68	5.11	2.22	0.28083	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02688	0.0081	M	0.66378	2.025	0.24947	N	0.991818	P	0.35656	0.514	B	0.34931	0.192	T	0.39035	-0.9633	9	0.59425	D	0.04	.	5.2867	0.15706	0.0746:0.2754:0.5155:0.1345	.	418	Q9Y5E7	PCDB2_HUMAN	K	418	ENSP00000194155:E418K	ENSP00000194155:E418K	E	+	1	0	PCDHB2	140455810	0.000000	0.05858	0.165000	0.22776	0.025000	0.11179	0.146000	0.16180	0.223000	0.20920	0.650000	0.86243	GAA		0.517	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		20	68	0	0	0	1	0	20	68				
USP48	84196	broad.mit.edu	37	1	22073590	22073590	+	Silent	SNP	A	A	G	rs370510874		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:22073590A>G	ENST00000308271.9	-	8	1609	c.961T>C	c.(961-963)Ttg>Ctg	p.L321L	USP48_ENST00000421625.2_Silent_p.L321L|USP48_ENST00000400301.1_Silent_p.L321L|USP48_ENST00000529637.1_Silent_p.L321L	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	321	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TCCATATCCAAAATTTCTGAG	0.328																																						ENST00000308271.9																			0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(961-963)Ttg>Ctg		ubiquitin specific peptidase 48							84.0	83.0	83.0					1																	22073590		2203	4300	6503	SO:0001819	synonymous_variant	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22073590A>G	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.961T>C	1.37:g.22073590A>G						USP48_ENST00000421625.2_Silent_p.L321L|USP48_ENST00000529637.1_Silent_p.L321L|USP48_ENST00000400301.1_Silent_p.L321L	p.L321L	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	8	1609	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	321					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Silent	SNP	ENST00000308271.9	37	c.961T>C	CCDS30623.1																																																																																				0.328	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	NM_032236		4	12	0	0	0	1	0	4	12				
AHNAK	79026	broad.mit.edu	37	11	62300151	62300151	+	Missense_Mutation	SNP	C	C	T	rs138061218		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:62300151C>T	ENST00000378024.4	-	5	2012	c.1738G>A	c.(1738-1740)Gca>Aca	p.A580T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	580					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACTTTAGGTGCGGCCACATTT	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		18311	0.0		0.001	False		,,,				2504	0.0					ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(1738-1740)Gca>Aca		AHNAK nucleoprotein		C	THR/ALA,	0,4404		0,0,2202	68.0	70.0	69.0		1738,	3.7	0.0	11	dbSNP_134	69	1,8597	1.2+/-3.3	0,1,4298	no	missense,intron	AHNAK	NM_001620.1,NM_024060.2	58,	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign,	580/5891,	62300151	1,13001	2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62300151C>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1738G>A	11.37:g.62300151C>T	ENSP00000367263:p.Ala580Thr					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.A580T	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	2012	-		Melanoma(852;0.155)	580					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.1738G>A	CCDS31584.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	2.021	-0.424712	0.04734	0.0	1.16E-4	ENSG00000124942	ENST00000378024	T	0.00737	5.76	5.52	3.65	0.41850	.	1.004800	0.08030	N	0.993358	T	0.01222	0.0040	L	0.52126	1.63	0.09310	N	1	B	0.18310	0.027	B	0.19666	0.026	T	0.53788	-0.8389	10	0.13470	T	0.59	-10.4798	12.4296	0.55567	0.0:0.8497:0.0:0.1503	.	580	Q09666	AHNK_HUMAN	T	580	ENSP00000367263:A580T	ENSP00000367263:A580T	A	-	1	0	AHNAK	62056727	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	0.876000	0.28092	0.309000	0.22966	-1.164000	0.01763	GCA		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		30	4	0	0	0	1	0	30	4				
AEBP2	121536	broad.mit.edu	37	12	19615449	19615449	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr12:19615449G>A	ENST00000398864.3	+	2	703	c.677G>A	c.(676-678)aGc>aAc	p.S226N	AEBP2_ENST00000541908.1_5'UTR|AEBP2_ENST00000266508.9_Missense_Mutation_p.S226N|AEBP2_ENST00000360995.4_Missense_Mutation_p.S10N	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	226	Interaction with RBBP4.|Ser-rich.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					TGTAGCATAAGCAGTACTATA	0.333																																						ENST00000266508.9																			0				ovary(1)	1						c.(676-678)aGc>aAc		AE binding protein 2							49.0	43.0	45.0					12																	19615449		1862	4102	5964	SO:0001583	missense	121536				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding	g.chr12:19615449G>A		CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.677G>A	12.37:g.19615449G>A	ENSP00000381840:p.Ser226Asn					AEBP2_ENST00000541908.1_5'UTR|AEBP2_ENST00000360995.4_Missense_Mutation_p.S10N|AEBP2_ENST00000398864.3_Missense_Mutation_p.S226N	p.S226N	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN			2	678	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)		226			Interaction with RBBP4.|Ser-rich.		Q59FS5|Q6ZN62|Q96BG3	Missense_Mutation	SNP	ENST00000398864.3	37	c.677G>A	CCDS44841.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900116	0.52227	.	.	ENSG00000139154	ENST00000398864;ENST00000435841;ENST00000266508;ENST00000360995	D;D;T	0.91740	-2.9;-2.9;-0.32	5.55	5.55	0.83447	.	.	.	.	.	D	0.86707	0.5997	L	0.27053	0.805	0.53688	D	0.999972	B	0.29188	0.236	B	0.20767	0.031	T	0.82508	-0.0422	9	0.22706	T	0.39	-1.7625	19.6941	0.96016	0.0:0.0:1.0:0.0	.	226	Q6ZN18	AEBP2_HUMAN	N	226;160;226;10	ENSP00000381840:S226N;ENSP00000266508:S226N;ENSP00000354267:S10N	ENSP00000266508:S226N	S	+	2	0	AEBP2	19506716	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.409000	0.80053	2.885000	0.99019	0.655000	0.94253	AGC		0.333	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401575.1	NM_153207		7	11	0	0	0	1	0	7	11				
TTLL4	9654	broad.mit.edu	37	2	219612366	219612366	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr2:219612366C>T	ENST00000392102.1	+	11	2636	c.2296C>T	c.(2296-2298)Cgg>Tgg	p.R766W	TTLL4_ENST00000258398.4_Missense_Mutation_p.R766W|TTLL4_ENST00000442769.1_Missense_Mutation_p.R702W|TTLL4_ENST00000457313.1_Missense_Mutation_p.R601W	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	766	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GTTTGACCTGCGGATCTATGT	0.498																																					GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(2296-2298)Cgg>Tgg		tubulin tyrosine ligase-like family, member 4							162.0	145.0	151.0					2																	219612366		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219612366C>T		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.2296C>T	2.37:g.219612366C>T	ENSP00000375951:p.Arg766Trp					TTLL4_ENST00000258398.4_Missense_Mutation_p.R766W|TTLL4_ENST00000442769.1_Missense_Mutation_p.R702W|TTLL4_ENST00000457313.1_Missense_Mutation_p.R601W	p.R766W	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	11	2636	+		Renal(207;0.0915)	766			TTL.		A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.2296C>T	CCDS2422.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528634	0.85706	.	.	ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.73009	0.3532	H	0.99487	4.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83954	0.0318	10	0.87932	D	0	.	13.5799	0.61896	0.1654:0.8346:0.0:0.0	.	601;702;766	E9PH58;E7EX20;Q14679	.;.;TTLL4_HUMAN	W	601;766;702;766	ENSP00000393332:R601W;ENSP00000375951:R766W;ENSP00000396555:R702W;ENSP00000258398:R766W	ENSP00000258398:R766W	R	+	1	2	TTLL4	219320610	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.053000	0.41326	2.746000	0.94184	0.655000	0.94253	CGG		0.498	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		19	73	0	0	0	1	0	19	73				
ZNF286B	729288	broad.mit.edu	37	17	18565523	18565523	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:18565523A>C	ENST00000545289.1	-	5	1546	c.1296T>G	c.(1294-1296)atT>atG	p.I432M	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	432					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)			endometrium(1)|lung(1)	2						CTCCAGTGTGAATTCTCTGAT	0.388																																						ENST00000545289.1																			0				endometrium(1)|lung(1)	2						c.(1294-1296)atT>atG		zinc finger protein 286B							70.0	76.0	74.0					17																	18565523		692	1591	2283	SO:0001583	missense	729288				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:18565523A>C		CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"""Zinc fingers, C2H2-type"""	33241	protein-coding gene	gene with protein product	"""zinc finger protein 590"""		"""zinc finger protein 286-like"", ""zinc finger 286C pseudogene"""	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.1296T>G	17.37:g.18565523A>C	ENSP00000461413:p.Ile432Met						p.I432M	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN			5	1546	-			432						Missense_Mutation	SNP	ENST00000545289.1	37	c.1296T>G	CCDS58523.1																																																																																				0.388	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_001723047		19	24	0	0	0	1	0	19	24				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	rs121913529		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr12:25398284C>G	ENST00000256078.4	-	2	98	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000311936.3_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gCt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>C	12.37:g.25398284C>G	ENSP00000256078:p.Gly12Ala	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A|KRAS_ENST00000557334.1_Missense_Mutation_p.G12A	p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.996285	0.93167	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85643	0.5744	M	0.74546	2.27	0.80722	D	1	P;P	0.52842	0.898;0.956	P;P	0.55303	0.658;0.773	D	0.87064	0.2155	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	A	12	ENSP00000308495:G12A;ENSP00000452512:G12A;ENSP00000256078:G12A;ENSP00000451856:G12A	ENSP00000256078:G12A	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		9	1	0	0	0	1	0	9	1				
ADAMTSL1	92949	broad.mit.edu	37	9	18635979	18635979	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr9:18635979C>A	ENST00000380548.4	+	6	979	c.640C>A	c.(640-642)Cat>Aat	p.H214N	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.H214N|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.H214N|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.H214N	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	214						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGGAAGTAGACATATTCGCCT	0.348																																						ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(640-642)Cat>Aat		ADAMTS-like 1							238.0	221.0	227.0					9																	18635979		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18635979C>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.640C>A	9.37:g.18635979C>A	ENSP00000369921:p.His214Asn					ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.H214N|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.H214N|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.H214N	p.H214N	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	6	979	+			214					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.640C>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285885	0.59867	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	T;T;T;T	0.61158	0.13;0.73;0.73;0.73	6.08	6.08	0.98989	.	.	.	.	.	T	0.39036	0.1063	N	0.13235	0.315	0.80722	D	1	P;B	0.38922	0.651;0.008	B;B	0.30401	0.115;0.02	T	0.30327	-0.9982	9	0.12103	T	0.63	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	214;214	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	N	214	ENSP00000369921:H214N;ENSP00000327887:H214N;ENSP00000369940:H214N;ENSP00000276935:H214N	ENSP00000276935:H214N	H	+	1	0	ADAMTSL1	18625979	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	5.099000	0.64554	2.894000	0.99253	0.655000	0.94253	CAT		0.348	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			28	20	1	0	1.32181e-22	1	1.48704e-22	28	20				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000564451.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000567960.1_RNA								0	1279	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	2	0	0	0	1	0	3	2				
KIF11	3832	broad.mit.edu	37	10	94369210	94369210	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr10:94369210A>C	ENST00000260731.3	+	6	732	c.642A>C	c.(640-642)ttA>ttC	p.L214F		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	214	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCAAATTTTAGAAAAGGGGG	0.373																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(640-642)ttA>ttC		kinesin family member 11							203.0	226.0	218.0					10																	94369210		2203	4300	6503	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94369210A>C	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.642A>C	10.37:g.94369210A>C	ENSP00000260731:p.Leu214Phe						p.L214F	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			6	732	+			214			Kinesin-motor.		A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.642A>C	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.713105	0.68730	.	.	ENSG00000138160	ENST00000260731	T	0.80909	-1.43	5.54	1.6	0.23607	Kinesin, motor domain (4);	0.000000	0.64402	D	0.000001	D	0.86961	0.6059	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85176	0.1001	10	0.87932	D	0	.	9.2024	0.37268	0.3652:0.0:0.6348:0.0	.	214	P52732	KIF11_HUMAN	F	214	ENSP00000260731:L214F	ENSP00000260731:L214F	L	+	3	2	KIF11	94359190	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.240000	0.32731	0.131000	0.18576	-0.248000	0.11899	TTA		0.373	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		16	185	0	0	0	1	0	16	185				
OR5M8	219484	broad.mit.edu	37	11	56258788	56258788	+	Missense_Mutation	SNP	C	C	T	rs574852072	byFrequency	TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:56258788C>T	ENST00000327216.2	-	1	83	c.59G>A	c.(58-60)cGg>cAg	p.R20Q		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TTGTAATTCCCGGCGACTGGT	0.483													C|||	4	0.000798722	0.0	0.0014	5008	,	,		19178	0.0		0.0	False		,,,				2504	0.0031					ENST00000327216.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(58-60)cGg>cAg		olfactory receptor, family 5, subfamily M, member 8							80.0	85.0	83.0					11																	56258788		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258788C>T	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.59G>A	11.37:g.56258788C>T	ENSP00000323354:p.Arg20Gln						p.R20Q	NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN			1	83	-	Esophageal squamous(21;0.00352)		20					B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.59G>A	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	C	8.855	0.945463	0.18356	.	.	ENSG00000181371	ENST00000327216	T	0.00433	7.43	4.13	-7.18	0.01505	.	1.292630	0.06259	U	0.693636	T	0.00144	0.0004	N	0.03154	-0.405	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.36915	-0.9728	10	0.39692	T	0.17	0.1659	3.5083	0.07699	0.209:0.2522:0.4222:0.1166	.	20	Q8NGP6	OR5M8_HUMAN	Q	20	ENSP00000323354:R20Q	ENSP00000323354:R20Q	R	-	2	0	OR5M8	56015364	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.691000	0.00198	-1.486000	0.01851	-1.292000	0.01352	CGG		0.483	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		58	5	0	0	0	1	0	58	5				
FAT4	79633	broad.mit.edu	37	4	126329626	126329626	+	Missense_Mutation	SNP	C	C	T	rs141773516		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr4:126329626C>T	ENST00000394329.3	+	4	5610	c.5597C>T	c.(5596-5598)aCg>aTg	p.T1866M	FAT4_ENST00000335110.5_Missense_Mutation_p.T164M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1866	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATTTTAGCCACGGATGATGAC	0.328													C|||	1	0.000199681	0.0	0.0	5008	,	,		15360	0.0		0.001	False		,,,				2504	0.0					ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(5596-5598)aCg>aTg		FAT atypical cadherin 4		C	MET/THR	4,4400	8.1+/-20.4	0,4,2198	102.0	105.0	104.0		5597	5.0	1.0	4	dbSNP_134	104	0,8600		0,0,4300	yes	missense	FAT4	NM_024582.4	81	0,4,6498	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging	1866/4982	126329626	4,13000	2202	4300	6502	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126329626C>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.5597C>T	4.37:g.126329626C>T	ENSP00000377862:p.Thr1866Met					FAT4_ENST00000335110.5_Missense_Mutation_p.T164M	p.T1866M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			4	5610	+			1866			Cadherin 18.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.5597C>T	CCDS3732.3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	17.97	3.518816	0.64634	9.08E-4	0.0	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.02552	4.25;4.25	5.03	5.03	0.67393	Cadherin (4);Cadherin-like (1);	0.000000	0.35262	U	0.003333	T	0.23330	0.0564	M	0.93763	3.455	0.49582	D	0.999809	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.977	T	0.18808	-1.0325	10	0.51188	T	0.08	.	18.3766	0.90437	0.0:1.0:0.0:0.0	.	164;1866	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	M	1866;164	ENSP00000377862:T1866M;ENSP00000335169:T164M	ENSP00000335169:T164M	T	+	2	0	FAT4	126549076	0.997000	0.39634	0.998000	0.56505	0.893000	0.52053	3.018000	0.49625	2.337000	0.79520	0.591000	0.81541	ACG		0.328	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		21	42	0	0	0	1	0	21	42				
MYH8	4626	broad.mit.edu	37	17	10304252	10304252	+	Silent	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:10304252C>T	ENST00000403437.2	-	26	3373	c.3279G>A	c.(3277-3279)ttG>ttA	p.L1093L	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1093					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTTGCTTATCAAATTGCTGA	0.333									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(3277-3279)ttG>ttA		myosin, heavy chain 8, skeletal muscle, perinatal							70.0	67.0	68.0					17																	10304252		2203	4300	6503	SO:0001819	synonymous_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10304252C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3279G>A	17.37:g.10304252C>T						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.L1093L	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			26	3373	-			1093					Q14910	Silent	SNP	ENST00000403437.2	37	c.3279G>A	CCDS11153.1																																																																																				0.333	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		5	15	0	0	0	1	0	5	15				
EXOC7	23265	broad.mit.edu	37	17	74079821	74079821	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:74079821C>T	ENST00000335146.7	-	20	2169	c.2116G>A	c.(2116-2118)Gtg>Atg	p.V706M	EXOC7_ENST00000607838.1_Missense_Mutation_p.V678M|EXOC7_ENST00000591724.1_5'Flank|EXOC7_ENST00000405575.4_Missense_Mutation_p.V664M|EXOC7_ENST00000589210.1_Missense_Mutation_p.V655M|EXOC7_ENST00000332065.5_Missense_Mutation_p.V624M|EXOC7_ENST00000411744.2_Missense_Mutation_p.V647M|EXOC7_ENST00000467929.2_Missense_Mutation_p.V627M			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	706					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GTGAAGGGCACGCTGCCAAAC	0.612																																						ENST00000607838.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14						c.(2032-2034)Gtg>Atg		exocyst complex component 7							119.0	92.0	101.0					17																	74079821		2203	4300	6503	SO:0001583	missense	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74079821C>T	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.2116G>A	17.37:g.74079821C>T	ENSP00000334100:p.Val706Met					EXOC7_ENST00000411744.2_Missense_Mutation_p.V647M|EXOC7_ENST00000467929.2_Missense_Mutation_p.V627M|EXOC7_ENST00000332065.5_Missense_Mutation_p.V624M|EXOC7_ENST00000405575.4_Missense_Mutation_p.V664M|EXOC7_ENST00000589210.1_Missense_Mutation_p.V655M|EXOC7_ENST00000335146.7_Missense_Mutation_p.V706M	p.V678M	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		20	2126	-			706					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	37	c.2032G>A	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	c	11.03	1.518467	0.27211	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744	.	.	.	4.67	4.67	0.58626	Cullin repeat-like-containing domain (1);	0.064517	0.64402	D	0.000009	T	0.73273	0.3566	L	0.46741	1.465	0.80722	D	1	P;P;D;B;P;P;P	0.67145	0.565;0.57;0.996;0.337;0.865;0.871;0.913	B;B;D;B;B;B;B	0.69479	0.132;0.099;0.964;0.067;0.155;0.31;0.303	T	0.74639	-0.3598	9	0.51188	T	0.08	-21.454	17.759	0.88459	0.0:1.0:0.0:0.0	.	647;678;627;592;706;624;655	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;EXOC7_HUMAN;.;.	M	624;544;678;706;655;592;647	.	ENSP00000333806:V624M	V	-	1	0	EXOC7	71591416	1.000000	0.71417	0.996000	0.52242	0.073000	0.16967	3.563000	0.53784	2.427000	0.82271	0.556000	0.70494	GTG		0.612	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		41	9	0	0	0	1	0	41	9				
CYP4Z1	199974	broad.mit.edu	37	1	47533227	47533227	+	Missense_Mutation	SNP	T	T	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:47533227T>A	ENST00000334194.3	+	1	68	c.65T>A	c.(64-66)aTg>aAg	p.M22K		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	22						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CTCCTCTGCATGTCTCTGCTG	0.552																																						ENST00000334194.3																			0				cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						c.(64-66)aTg>aAg		cytochrome P450, family 4, subfamily Z, polypeptide 1							73.0	67.0	69.0					1																	47533227		2203	4297	6500	SO:0001583	missense	199974					endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47533227T>A	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.65T>A	1.37:g.47533227T>A	ENSP00000334246:p.Met22Lys						p.M22K	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN			1	68	+			22					Q5VVE4	Missense_Mutation	SNP	ENST00000334194.3	37	c.65T>A	CCDS545.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326672	0.24080	.	.	ENSG00000186160	ENST00000334194	T	0.69685	-0.42	3.29	2.08	0.27032	.	0.261397	0.24463	U	0.038313	T	0.36799	0.0980	N	0.08118	0	0.09310	N	1	P	0.37061	0.58	B	0.29524	0.103	T	0.32824	-0.9892	10	0.66056	D	0.02	.	5.3635	0.16101	0.0:0.1455:0.0:0.8545	.	22	Q86W10	CP4Z1_HUMAN	K	22	ENSP00000334246:M22K	ENSP00000334246:M22K	M	+	2	0	CYP4Z1	47305814	0.016000	0.18221	0.152000	0.22495	0.074000	0.17049	2.259000	0.43259	1.348000	0.45733	0.378000	0.23410	ATG		0.552	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134		21	19	0	0	0	1	0	21	19				
ARHGAP30	257106	broad.mit.edu	37	1	161017791	161017791	+	Missense_Mutation	SNP	C	C	T	rs140467510		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:161017791C>T	ENST00000368013.3	-	12	3340	c.3020G>A	c.(3019-3021)cGc>cAc	p.R1007H	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R830H|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R796H|USF1_ENST00000435396.1_5'Flank|USF1_ENST00000368021.3_5'Flank	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	1007					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGTCCTTTGGCGGTCCCGGGC	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18109	0.0		0.0	False		,,,				2504	0.0					ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(3019-3021)cGc>cAc		Rho GTPase activating protein 30		C	HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	64.0	69.0	67.0		3020,2387	5.0	1.0	1	dbSNP_134	67	0,8600		0,0,4300	yes	missense,missense	ARHGAP30	NM_001025598.1,NM_181720.2	29,29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging,probably-damaging	1007/1102,796/891	161017791	3,13003	2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161017791C>T	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.3020G>A	1.37:g.161017791C>T	ENSP00000356992:p.Arg1007His					ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R796H|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R830H	p.R1007H	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		12	3340	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		1007					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.3020G>A	CCDS30918.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.4	4.141414	0.77775	6.81E-4	0.0	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368015	T;T;T	0.54279	1.9;2.05;0.58	4.96	4.96	0.65561	.	0.000000	0.41001	D	0.000974	T	0.64972	0.2647	M	0.69823	2.125	0.33200	D	0.551982	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.70475	-0.4861	10	0.87932	D	0	.	15.6999	0.77535	0.0:1.0:0.0:0.0	.	1007;796	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	H	796;1007;830	ENSP00000356995:R796H;ENSP00000356992:R1007H;ENSP00000356994:R830H	ENSP00000356992:R1007H	R	-	2	0	ARHGAP30	159284415	0.991000	0.36638	1.000000	0.80357	0.991000	0.79684	2.980000	0.49321	2.284000	0.76573	0.455000	0.32223	CGC		0.582	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		4	105	0	0	0	1	0	4	105				
GAPDH	2597	broad.mit.edu	37	12	6646101	6646101	+	Missense_Mutation	SNP	A	A	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr12:6646101A>C	ENST00000229239.5	+	5	918	c.252A>C	c.(250-252)aaA>aaC	p.K84N	GAPDH_ENST00000396861.1_Missense_Mutation_p.K84N|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396859.1_Missense_Mutation_p.K84N|GAPDH_ENST00000396858.1_Missense_Mutation_p.K42N|GAPDH_ENST00000396856.1_Missense_Mutation_p.K9N	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	84	Interaction with WARS.				carbohydrate metabolic process (GO:0005975)|cellular response to interferon-gamma (GO:0071346)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of translation (GO:0017148)|neuron apoptotic process (GO:0051402)|peptidyl-cysteine S-trans-nitrosylation (GO:0035606)|protein stabilization (GO:0050821)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GAIT complex (GO:0097452)|lipid particle (GO:0005811)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|identical protein binding (GO:0042802)|microtubule binding (GO:0008017)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|peptidyl-cysteine S-nitrosylase activity (GO:0035605)			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						ATCCCTCCAAAATCAAGTGGG	0.607																																						ENST00000229239.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7						c.(250-252)aaA>aaC		glyceraldehyde-3-phosphate dehydrogenase	NADH(DB00157)						109.0	120.0	116.0					12																	6646101		2203	4300	6503	SO:0001583	missense	2597				gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	g.chr12:6646101A>C	AF261085	CCDS8549.1, CCDS58201.1	12p13.31	2012-10-02		2005-05-06	ENSG00000111640	ENSG00000111640	1.2.1.12		4141	protein-coding gene	gene with protein product		138400		GAPD		3170585	Standard	NM_002046		Approved		uc001qop.2	P04406	OTTHUMG00000137379	ENST00000229239.5:c.252A>C	12.37:g.6646101A>C	ENSP00000229239:p.Lys84Asn					GAPDH_ENST00000396858.1_Missense_Mutation_p.K42N|GAPDH_ENST00000396856.1_Missense_Mutation_p.K9N|GAPDH_ENST00000396859.1_Missense_Mutation_p.K84N|GAPDH_ENST00000396861.1_Missense_Mutation_p.K84N	p.K84N	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN			5	918	+			84			Interaction with WARS.		E7EUT4|P00354|Q53X65	Missense_Mutation	SNP	ENST00000229239.5	37	c.252A>C	CCDS8549.1	.	.	.	.	.	.	.	.	.	.	A	6.319	0.426944	0.11987	.	.	ENSG00000111640	ENST00000229239;ENST00000450282;ENST00000396856;ENST00000396861;ENST00000396859;ENST00000396858	T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14	4.55	2.61	0.31194	Glyceraldehyde 3-phosphate dehydrogenase, NAD(P) binding domain (2);NAD(P)-binding domain (1);	0.166361	0.51477	N	0.000086	T	0.13756	0.0333	N	0.01410	-0.885	0.38711	D	0.953212	D;D;D;B;B	0.54207	0.965;0.965;0.965;0.0;0.0	P;P;P;B;B	0.49047	0.599;0.599;0.599;0.001;0.001	T	0.20874	-1.0262	10	0.02654	T	1	.	8.9296	0.35661	0.1615:0.7574:0.0:0.0811	.	42;59;84;9;84	E7EUT4;Q0QET7;Q2TSD0;E7EUT5;P04406	.;.;.;.;G3P_HUMAN	N	84;84;9;84;84;42	ENSP00000229239:K84N;ENSP00000380065:K9N;ENSP00000380070:K84N;ENSP00000380068:K84N;ENSP00000380067:K42N	ENSP00000229239:K84N	K	+	3	2	GAPDH	6516362	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.104000	0.50306	1.067000	0.40740	0.459000	0.35465	AAA		0.607	GAPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268059.1	NM_002046		148	161	0	0	0	1	0	148	161				
KCNIP4	80333	broad.mit.edu	37	4	20760463	20760463	+	Silent	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr4:20760463C>T	ENST00000382152.2	-	4	506	c.339G>A	c.(337-339)tcG>tcA	p.S113S	KCNIP4_ENST00000382148.3_Silent_p.S88S|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382150.4_Silent_p.S92S|KCNIP4_ENST00000447367.2_Silent_p.S79S|KCNIP4_ENST00000509207.1_Silent_p.S51S|KCNIP4_ENST00000359001.5_Silent_p.S51S	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	113	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				GAAAGAACTGCGAGTAAATCT	0.378																																						ENST00000382148.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(262-264)tcG>tcA		Kv channel interacting protein 4							120.0	121.0	121.0					4																	20760463		2203	4300	6503	SO:0001819	synonymous_variant	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:20760463C>T	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.339G>A	4.37:g.20760463C>T						KCNIP4_ENST00000447367.2_Silent_p.S79S|KCNIP4_ENST00000359001.5_Silent_p.S51S|KCNIP4_ENST00000509207.1_Silent_p.S51S|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382150.4_Silent_p.S92S|KCNIP4_ENST00000382152.2_Silent_p.S113S	p.S88S	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN			3	600	-		Breast(46;0.134)	113			EF-hand 1; degenerate.		Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Silent	SNP	ENST00000382152.2	37	c.264G>A	CCDS43216.1																																																																																				0.378	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		9	35	0	0	0	1	0	9	35				
SLCO5A1	81796	broad.mit.edu	37	8	70744166	70744166	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr8:70744166G>A	ENST00000260126.4	-	2	1449	c.743C>T	c.(742-744)cCt>cTt	p.P248L	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P248L|RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000528800.2_RNA|RP11-159H10.3_ENST00000501104.2_RNA|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P248L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ACAGGCCGGAGGCTCCAAAGT	0.572																																						ENST00000260126.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(742-744)cCt>cTt		solute carrier organic anion transporter family, member 5A1							48.0	54.0	52.0					8																	70744166		2203	4300	6503	SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744166G>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.743C>T	8.37:g.70744166G>A	ENSP00000260126:p.Pro248Leu					SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.P248L|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.P248L	p.P248L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	1449	-	Breast(64;0.0654)		248					A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.743C>T	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	G	9.704	1.155308	0.21454	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.40476	1.03;1.03;1.03	5.61	5.61	0.85477	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	11.650000	0.01656	N	0.024855	T	0.41003	0.1140	N	0.21240	0.645	0.21220	N	0.999757	B;B;B;B	0.32365	0.367;0.171;0.367;0.317	B;B;B;B	0.33568	0.166;0.035;0.119;0.104	T	0.52578	-0.8557	10	0.17832	T	0.49	.	19.6355	0.95731	0.0:0.0:1.0:0.0	.	248;248;248;248	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	L	248	ENSP00000260126:P248L;ENSP00000434422:P248L;ENSP00000431611:P248L	ENSP00000260126:P248L	P	-	2	0	SLCO5A1	70906720	0.998000	0.40836	0.547000	0.28179	0.293000	0.27360	5.921000	0.70028	2.646000	0.89796	0.561000	0.74099	CCT		0.572	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		29	15	0	0	0	1	0	29	15				
FKBP6	8468	broad.mit.edu	37	7	72744195	72744195	+	Missense_Mutation	SNP	G	G	A	rs3950376		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr7:72744195G>A	ENST00000252037.4	+	4	377	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	FKBP6_ENST00000431982.2_Missense_Mutation_p.R98Q|TRIM50_ENST00000333149.2_5'Flank|FKBP6_ENST00000413573.2_Missense_Mutation_p.R73Q|TRIM50_ENST00000493498.1_5'Flank	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	103	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.			R -> Q (in Ref. 2; AAP97324). {ECO:0000305}.	cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|piRNA metabolic process (GO:0034587)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|synaptonemal complex (GO:0000795)	FK506 binding (GO:0005528)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R103Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGAGCATGCGGAGAGGAGAG	0.537																																						ENST00000252037.4																			1	Substitution - Missense(1)	p.R103Q(1)	lung(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16						c.(307-309)cGg>cAg		FK506 binding protein 6, 36kDa							131.0	112.0	118.0					7																	72744195		2203	4300	6503	SO:0001583	missense	8468				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:72744195G>A	AF038847	CCDS43595.1, CCDS47604.1, CCDS64670.1	7q11.23	2009-01-05	2002-08-29		ENSG00000077800	ENSG00000077800			3722	protein-coding gene	gene with protein product	"""FK506 binding protein 6 (36kD)"", ""peptidylprolyl cis-trans isomerase"", ""rotamase"", ""immunophilin FKBP36"""	604839	"""FK506-binding protein 6 (36kD)"""			9782077, 19001379	Standard	NM_003602		Approved	PPIase, FKBP36	uc003tya.2	O75344	OTTHUMG00000150520	ENST00000252037.4:c.308G>A	7.37:g.72744195G>A	ENSP00000252037:p.Arg103Gln					FKBP6_ENST00000431982.2_Missense_Mutation_p.R98Q|FKBP6_ENST00000413573.2_Missense_Mutation_p.R73Q	p.R103Q	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN			4	377	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	103			PPIase FKBP-type.		B4DXT7|G3V0I2|Q7Z4T4|Q9UDS0	Missense_Mutation	SNP	ENST00000252037.4	37	c.308G>A	CCDS43595.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538247	0.45176	.	.	ENSG00000077800	ENST00000431982;ENST00000442793;ENST00000413573;ENST00000252037	D;D;D;D	0.85556	-2.0;-2.0;-2.0;-2.0	4.52	4.52	0.55395	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.229081	0.39985	N	0.001216	T	0.64702	0.2622	N	0.12502	0.225	0.36640	D	0.876817	B;B	0.33073	0.396;0.023	B;B	0.16289	0.009;0.015	T	0.66512	-0.5905	10	0.19147	T	0.46	-20.1574	7.1478	0.25593	0.1919:0.0:0.8081:0.0	rs3950376	98;103	O75344-2;O75344	.;FKBP6_HUMAN	Q	98;98;73;103	ENSP00000416277:R98Q;ENSP00000402360:R98Q;ENSP00000394952:R73Q;ENSP00000252037:R103Q	ENSP00000252037:R103Q	R	+	2	0	FKBP6	72382131	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.794000	0.47853	2.101000	0.63845	0.485000	0.47835	CGG		0.537	FKBP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318723.1	NM_003602		3	27	0	0	0	1	0	3	27				
ALOX12	239	broad.mit.edu	37	17	6900279	6900279	+	Silent	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:6900279G>A	ENST00000251535.6	+	2	323	c.270G>A	c.(268-270)gcG>gcA	p.A90A	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.5_ENST00000573222.1_lincRNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	90	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						GAGCCTGCGCGGAGGTGGCCT	0.701																																						ENST00000251535.6																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						c.(268-270)gcG>gcA		arachidonate 12-lipoxygenase							32.0	24.0	27.0					17																	6900279		2200	4297	6497	SO:0001819	synonymous_variant	239				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr17:6900279G>A	M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.270G>A	17.37:g.6900279G>A						AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA	p.A90A	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN			2	323	+			90			PLAT.		O95569|Q6ISF8|Q9UQM4	Silent	SNP	ENST00000251535.6	37	c.270G>A	CCDS11084.1																																																																																				0.701	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2			5	11	0	0	0	1	0	5	11				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	75	0	0	0	1	0	4	75				
POTEF	728378	broad.mit.edu	37	2	130832627	130832627	+	Silent	SNP	G	G	A	rs566969052		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr2:130832627G>A	ENST00000409914.2	-	17	2817	c.2418C>T	c.(2416-2418)acC>acT	p.T806T	POTEF_ENST00000357462.5_Silent_p.T806T	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	806	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GGGTGGCCTCGGTCAGCAGGA	0.587													.|||	1	0.000199681	0.0	0.0	5008	,	,		21008	0.0		0.0	False		,,,				2504	0.001					ENST00000357462.5																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(2416-2418)acC>acT		POTE ankyrin domain family, member F							122.0	131.0	128.0					2																	130832627		2203	4300	6503	SO:0001819	synonymous_variant	728378					cell cortex	ATP binding	g.chr2:130832627G>A	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2418C>T	2.37:g.130832627G>A						POTEF_ENST00000409914.2_Silent_p.T806T	p.T806T			A5A3E0	POTEF_HUMAN			15	2511	-			806			Actin-like.		A6NC34	Silent	SNP	ENST00000409914.2	37	c.2418C>T	CCDS46409.1																																																																																				0.587	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		33	221	0	0	0	1	0	33	221				
PEG3	5178	broad.mit.edu	37	19	57326398	57326398	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr19:57326398G>A	ENST00000326441.9	-	10	3775	c.3412C>T	c.(3412-3414)Cgg>Tgg	p.R1138W	PEG3_ENST00000593695.1_Missense_Mutation_p.R1012W|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R1014W|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R1138W|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1138					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTGTACTCCCGACTGTCAACC	0.483																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(3412-3414)Cgg>Tgg		paternally expressed 3							170.0	152.0	158.0					19																	57326398		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326398G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3412C>T	19.37:g.57326398G>A	ENSP00000326581:p.Arg1138Trp					PEG3_ENST00000593695.1_Missense_Mutation_p.R1012W|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R1014W|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R1138W|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron	p.R1138W	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	3775	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1138					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.3412C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910985	0.52439	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02787	4.16;4.16	4.33	-1.8	0.07907	.	0.610593	0.15015	N	0.285325	T	0.04679	0.0127	L	0.27053	0.805	.	.	.	D;D;D	0.89917	0.997;0.999;1.0	P;P;D	0.66847	0.727;0.893;0.947	T	0.36114	-0.9761	9	0.72032	D	0.01	-9.5391	3.4377	0.07452	0.2604:0.0:0.2943:0.4453	.	1014;1138;1073	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	W	1138	ENSP00000326581:R1138W;ENSP00000403051:R1138W	ENSP00000326581:R1138W	R	-	1	2	ZIM2	62018210	0.000000	0.05858	0.000000	0.03702	0.981000	0.71138	-0.416000	0.07097	-0.153000	0.11137	0.655000	0.94253	CGG		0.483	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			44	66	0	0	0	1	0	44	66				
SLMAP	7871	broad.mit.edu	37	3	57882247	57882247	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr3:57882247C>G	ENST00000428312.1	+	14	1413	c.1319C>G	c.(1318-1320)aCa>aGa	p.T440R	SLMAP_ENST00000383718.3_Missense_Mutation_p.T436R|SLMAP_ENST00000494088.1_5'UTR|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000295951.3_Missense_Mutation_p.T423R|SLMAP_ENST00000449503.2_Missense_Mutation_p.T402R|SLMAP_ENST00000295952.3_Missense_Mutation_p.T423R|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000495364.1_5'UTR|SLMAP_ENST00000442599.2_5'UTR			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	440					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GAAAATCAGACAAGAGCAAAA	0.318																																						ENST00000383718.3																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18						c.(1306-1308)aCa>aGa		sarcolemma associated protein							45.0	48.0	47.0					3																	57882247		2203	4300	6503	SO:0001583	missense	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57882247C>G	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1319C>G	3.37:g.57882247C>G	ENSP00000398661:p.Thr440Arg					SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000449503.2_Missense_Mutation_p.T402R|SLMAP_ENST00000494088.1_5'UTR|SLMAP_ENST00000295951.3_Missense_Mutation_p.T423R|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000295952.3_Missense_Mutation_p.T423R|SLMAP_ENST00000495364.1_5'UTR|SLMAP_ENST00000442599.2_5'UTR|SLMAP_ENST00000428312.1_Missense_Mutation_p.T440R	p.T436R			Q14BN4	SLMAP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	14	1405	+			440					Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	ENST00000428312.1	37	c.1307C>G		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	11.94|11.94|11.94	1.788336|1.788336|1.788336	0.31593|0.31593|0.31593	.|.|.	.|.|.	ENSG00000163681|ENSG00000163681|ENSG00000163681	ENST00000416658;ENST00000438794|ENST00000417128|ENST00000295951;ENST00000295952;ENST00000383718;ENST00000428312;ENST00000449503;ENST00000537224;ENST00000465203	.|.|T;T;T;T;T	.|.|0.43688	.|.|1.54;1.54;0.94;1.55;1.53	6.08|6.08|6.08	6.08|6.08|6.08	0.98989|0.98989|0.98989	.|.|.	.|.|0.370103	.|.|0.33916	.|.|N	.|.|0.004432	T|T|T	0.36193|0.36193|0.36193	0.0958|0.0958|0.0958	N|N|N	0.22421|0.22421|0.22421	0.69|0.69|0.69	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|B;B;B;B;B	.|.|0.31383	.|.|0.127;0.041;0.042;0.321;0.178	.|.|B;B;B;B;B	.|.|0.37015	.|.|0.239;0.043;0.037;0.124;0.162	T|T|T	0.08006|0.08006|0.08006	-1.0743|-1.0743|-1.0743	5|5|10	.|.|0.13108	.|.|T	.|.|0.6	-2.5233|-2.5233|-2.5233	20.6721|20.6721|20.6721	0.99693|0.99693|0.99693	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|34;402;440;423;436	.|.|Q14BN4-4;Q14BN4-2;Q14BN4;Q14BN4-3;Q14BN4-6	.|.|.;.;SLMAP_HUMAN;.;.	E|E|R	47;18|24|423;423;436;440;402;34;147	.|.|ENSP00000295951:T423R;ENSP00000295952:T423R;ENSP00000373224:T436R;ENSP00000398661:T440R;ENSP00000412945:T402R	.|.|ENSP00000295951:T423R	D|Q|T	+|+|+	3|1|2	2|0|0	SLMAP|SLMAP|SLMAP	57857287|57857287|57857287	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.926000|0.926000|0.926000	0.56050|0.56050|0.56050	4.358000|4.358000|4.358000	0.59442|0.59442|0.59442	2.894000|2.894000|2.894000	0.99253|0.99253|0.99253	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAC|CAA|ACA		0.318	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		2	2	0	0	0	1	0	2	2				
NOP2	4839	broad.mit.edu	37	12	6666174	6666174	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr12:6666174C>G	ENST00000322166.5	-	16	2545	c.2424G>C	c.(2422-2424)caG>caC	p.Q808H	IFFO1_ENST00000356896.4_5'Flank|NOP2_ENST00000541778.1_Missense_Mutation_p.Q804H|NOP2_ENST00000542015.1_5'Flank|NOP2_ENST00000382421.3_Missense_Mutation_p.Q841H|IFFO1_ENST00000396840.2_5'Flank|NOP2_ENST00000545200.1_3'UTR|IFFO1_ENST00000336604.4_5'Flank|NOP2_ENST00000537442.1_Missense_Mutation_p.Q808H|NOP2_ENST00000399466.2_Missense_Mutation_p.Q804H	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	808					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						ATAGCAGCAGCTGGCTGTTGC	0.567																																						ENST00000541778.1																			0				breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(2410-2412)caG>caC		NOP2 nucleolar protein							49.0	51.0	50.0					12																	6666174		1922	4133	6055	SO:0001583	missense	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6666174C>G		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.2424G>C	12.37:g.6666174C>G	ENSP00000313272:p.Gln808His					NOP2_ENST00000399466.2_Missense_Mutation_p.Q804H|NOP2_ENST00000322166.5_Missense_Mutation_p.Q808H|NOP2_ENST00000537442.1_Missense_Mutation_p.Q808H|NOP2_ENST00000382421.3_Missense_Mutation_p.Q841H|NOP2_ENST00000545200.1_3'UTR	p.Q804H			P46087	NOP2_HUMAN			16	2900	-			808					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	c.2412G>C	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	C	9.210	1.030672	0.19512	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000399466;ENST00000322166;ENST00000541778	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	4.0	2.12	0.27331	.	.	.	.	.	T	0.15869	0.0382	L	0.59436	1.845	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.10450	0.001;0.005	T	0.23797	-1.0178	9	0.41790	T	0.15	.	4.7279	0.12950	0.2308:0.6568:0.0:0.1123	.	808;804	P46087;P46087-2	NOP2_HUMAN;.	H	808;841;804;808;804	ENSP00000444437:Q808H;ENSP00000371858:Q841H;ENSP00000382392:Q804H;ENSP00000313272:Q808H;ENSP00000443150:Q804H	ENSP00000313272:Q808H	Q	-	3	2	NOP2	6536435	0.000000	0.05858	0.014000	0.15608	0.011000	0.07611	-0.421000	0.07053	0.611000	0.30052	0.561000	0.74099	CAG		0.567	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170		37	35	0	0	0	1	0	37	35				
DENND3	22898	broad.mit.edu	37	8	142175305	142175305	+	Silent	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr8:142175305C>T	ENST00000262585.2	+	11	1508	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	DENND3_ENST00000519811.1_Silent_p.F490F|DENND3_ENST00000424248.1_Silent_p.F358F	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	410	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTACATGTTCCATTCTTTTC	0.567																																						ENST00000519811.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55						c.(1468-1470)ttC>ttT		DENN/MADD domain containing 3							166.0	164.0	165.0					8																	142175305		2203	4300	6503	SO:0001819	synonymous_variant	22898							g.chr8:142175305C>T	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.1230C>T	8.37:g.142175305C>T						DENND3_ENST00000262585.2_Silent_p.F410F|DENND3_ENST00000424248.1_Silent_p.F358F	p.F490F			A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		11	1540	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		410					B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Silent	SNP	ENST00000262585.2	37	c.1470C>T	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	C	8.447	0.852204	0.17106	.	.	ENSG00000105339	ENST00000518668	.	.	.	5.42	0.127	0.14727	.	.	.	.	.	T	0.57548	0.2061	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52155	-0.8613	4	.	.	.	-23.4166	9.9694	0.41745	0.0:0.4647:0.0:0.5353	.	.	.	.	S	415	.	.	P	+	1	0	DENND3	142244487	0.993000	0.37304	0.987000	0.45799	0.726000	0.41606	0.247000	0.18179	0.103000	0.17682	-0.367000	0.07326	CCA		0.567	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_014957		44	51	0	0	0	1	0	44	51				
HUS1	3364	broad.mit.edu	37	7	48016344	48016344	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr7:48016344C>A	ENST00000258774.5	-	4	471	c.448G>T	c.(448-450)Gtg>Ttg	p.V150L	HUS1_ENST00000432325.1_Missense_Mutation_p.V129L	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	150					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				TCTGGGACCACCGGTTCTTGT	0.458								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)	ENST00000258774.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13						c.(448-450)Gtg>Ttg	Direct reversal of damage;Other conserved DNA damage response genes	HUS1 checkpoint homolog (S. pombe)							188.0	172.0	177.0					7																	48016344		2203	4300	6503	SO:0001583	missense	3364				DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding	g.chr7:48016344C>A	Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"""hus1+-like protein"""	603760	"""HUS1 (S. pombe) checkpoint homolog"""			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.448G>T	7.37:g.48016344C>A	ENSP00000258774:p.Val150Leu					HUS1_ENST00000432325.1_Missense_Mutation_p.V129L	p.V150L	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN			4	471	-		Breast(660;0.00139)	150					B4DFI9	Missense_Mutation	SNP	ENST00000258774.5	37	c.448G>T	CCDS34635.1	.	.	.	.	.	.	.	.	.	.	C	9.430	1.085202	0.20390	.	.	ENSG00000136273	ENST00000258774;ENST00000432325;ENST00000432627;ENST00000446009	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.03	-3.0	0.05480	.	0.813112	0.11078	N	0.602118	T	0.05868	0.0153	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.39078	-0.9631	10	0.27785	T	0.31	-9.1903	6.2572	0.20879	0.1437:0.1815:0.0:0.6748	.	150	O60921	HUS1_HUMAN	L	150;129;129;129	ENSP00000258774:V150L;ENSP00000416588:V129L;ENSP00000404855:V129L;ENSP00000398806:V129L	ENSP00000258774:V150L	V	-	1	0	HUS1	47982869	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.354000	0.20146	-0.717000	0.04955	-0.254000	0.11334	GTG		0.458	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	NM_004507		24	50	1	0	8.24728e-16	1	9.1511e-16	24	50				
IVNS1ABP	10625	broad.mit.edu	37	1	185268857	185268857	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:185268857C>T	ENST00000367498.3	-	14	2282	c.1660G>A	c.(1660-1662)Gtg>Atg	p.V554M	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.V336M	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	554					negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						AGAACAGCCACTCCAGCTCCT	0.418																																						ENST00000367498.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						c.(1660-1662)Gtg>Atg		influenza virus NS1A binding protein							125.0	127.0	126.0					1																	185268857		2203	4300	6503	SO:0001583	missense	10625				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		g.chr1:185268857C>T	AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.1660G>A	1.37:g.185268857C>T	ENSP00000356468:p.Val554Met					IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.V336M	p.V554M	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN			14	2282	-			554					A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	Missense_Mutation	SNP	ENST00000367498.3	37	c.1660G>A	CCDS1368.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649822	0.67358	.	.	ENSG00000116679	ENST00000367498;ENST00000392007	T;T	0.79033	-1.23;-1.23	5.5	5.5	0.81552	Galactose oxidase, beta-propeller (1);	0.053641	0.64402	D	0.000001	D	0.85418	0.5692	L	0.56769	1.78	0.80722	D	1	P;D;P	0.58268	0.696;0.982;0.908	B;P;P	0.60012	0.214;0.867;0.676	D	0.86232	0.1638	10	0.87932	D	0	.	19.7622	0.96325	0.0:1.0:0.0:0.0	.	336;255;554	A8MVR0;Q6MZF3;Q9Y6Y0	.;.;NS1BP_HUMAN	M	554;336	ENSP00000356468:V554M;ENSP00000375864:V336M	ENSP00000356468:V554M	V	-	1	0	IVNS1ABP	183535480	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	5.694000	0.68272	2.732000	0.93576	0.650000	0.86243	GTG		0.418	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085774.1	NM_006469		25	99	0	0	0	1	0	25	99				
JAKMIP1	152789	broad.mit.edu	37	4	6064099	6064099	+	Silent	SNP	G	G	A	rs149678000		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr4:6064099G>A	ENST00000282924.5	-	10	1985	c.1500C>T	c.(1498-1500)cgC>cgT	p.R500R	JAKMIP1_ENST00000409021.3_Silent_p.R500R|JAKMIP1_ENST00000409831.1_Silent_p.R500R|JAKMIP1_ENST00000457227.2_5'Flank|JAKMIP1_ENST00000409371.3_Silent_p.R315R|JAKMIP1_ENST00000410077.2_Silent_p.R335R	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	500	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGCGTAGGCGCGTTGCAGGG	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		14934	0.0		0.001	False		,,,				2504	0.0					ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1498-1500)cgC>cgT		janus kinase and microtubule interacting protein 1		G	,	1,4399		0,1,2199	40.0	46.0	44.0		1500,1500	-4.8	0.9	4	dbSNP_134	44	2,8588		0,2,4293	no	coding-synonymous,coding-synonymous	JAKMIP1	NM_001099433.1,NM_144720.3	,	0,3,6492	AA,AG,GG		0.0233,0.0227,0.0231	,	500/832,500/627	6064099	3,12987	2200	4295	6495	SO:0001819	synonymous_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6064099G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1500C>T	4.37:g.6064099G>A						JAKMIP1_ENST00000409831.1_Silent_p.R500R|JAKMIP1_ENST00000409371.3_Silent_p.R315R|JAKMIP1_ENST00000282924.5_Silent_p.R500R|JAKMIP1_ENST00000410077.2_Silent_p.R335R	p.R500R	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			10	1949	-			500			Mediates interaction with TYK2 and GABBR1.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000282924.5	37	c.1500C>T	CCDS3385.1																																																																																				0.642	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		20	22	0	0	0	1	0	20	22				
OR4K2	390431	broad.mit.edu	37	14	20344723	20344723	+	Silent	SNP	C	C	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr14:20344723C>A	ENST00000298642.2	+	1	333	c.297C>A	c.(295-297)acC>acA	p.T99T		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTGCCTTACCCAGATATTCT	0.413																																						ENST00000298642.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(295-297)acC>acA		olfactory receptor, family 4, subfamily K, member 2							198.0	203.0	201.0					14																	20344723		2203	4300	6503	SO:0001819	synonymous_variant	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344723C>A		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.297C>A	14.37:g.20344723C>A							p.T99T	NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	333	+	all_cancers(95;0.00108)		99					B2RNK8|Q6IFA5	Silent	SNP	ENST00000298642.2	37	c.297C>A	CCDS32023.1																																																																																				0.413	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			6	152	1	0	3.59834e-05	1	3.83507e-05	6	152				
PCDH9	5101	broad.mit.edu	37	13	67802394	67802394	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr13:67802394G>A	ENST00000377865.2	-	1	313	c.179C>T	c.(178-180)gCc>gTc	p.A60V	PCDH9_ENST00000456367.1_Missense_Mutation_p.A60V|PCDH9_ENST00000544246.1_Missense_Mutation_p.A60V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A60V|PCDH9_ENST00000377861.3_Missense_Mutation_p.A60V			Q9HC56	PCDH9_HUMAN	protocadherin 9	60	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GACAAGGCTGGCGCTGGTCCC	0.458																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(178-180)gCc>gTc		protocadherin 9							78.0	77.0	77.0					13																	67802394		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802394G>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.179C>T	13.37:g.67802394G>A	ENSP00000367096:p.Ala60Val					PCDH9_ENST00000456367.1_Missense_Mutation_p.A60V|PCDH9_ENST00000377861.3_Missense_Mutation_p.A60V|PCDH9_ENST00000377865.2_Missense_Mutation_p.A60V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A60V	p.A60V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	870	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	60			Cadherin 1.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.179C>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.602487	0.28534	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	5.82	5.82	0.92795	Cadherin, N-terminal (1);Cadherin (3);	0.207220	0.51477	D	0.000089	T	0.21022	0.0506	L	0.39245	1.2	0.41096	D	0.985637	B;B;B;B	0.20368	0.018;0.044;0.004;0.018	B;B;B;B	0.25987	0.027;0.039;0.023;0.065	T	0.02774	-1.1112	10	0.66056	D	0.02	.	20.1012	0.97876	0.0:0.0:1.0:0.0	.	60;60;60;60	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	V	60	ENSP00000442186:A60V;ENSP00000367096:A60V;ENSP00000401699:A60V;ENSP00000332060:A60V;ENSP00000367092:A60V	ENSP00000332060:A60V	A	-	2	0	PCDH9	66700395	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	5.659000	0.68010	2.754000	0.94517	0.650000	0.86243	GCC		0.458	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		18	51	0	0	0	1	0	18	51				
CAND2	23066	broad.mit.edu	37	3	12858734	12858734	+	Missense_Mutation	SNP	G	G	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr3:12858734G>C	ENST00000456430.2	+	10	2344	c.2303G>C	c.(2302-2304)cGt>cCt	p.R768P	CAND2_ENST00000295989.5_Missense_Mutation_p.R675P	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	768					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTAGGGACCCGTCCCCCGTGT	0.637																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2302-2304)cGt>cCt		cullin-associated and neddylation-dissociated 2 (putative)							38.0	42.0	41.0					3																	12858734		2049	4189	6238	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12858734G>C		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2303G>C	3.37:g.12858734G>C	ENSP00000387641:p.Arg768Pro					CAND2_ENST00000295989.5_Missense_Mutation_p.R675P	p.R768P	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			10	2344	+			768					B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.2303G>C	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	7.789	0.711073	0.15239	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.50277	0.75;0.75	4.67	3.79	0.43588	Armadillo-like helical (1);Armadillo-type fold (1);	0.321794	0.28376	N	0.015575	T	0.37461	0.1004	L	0.40543	1.245	0.20403	N	0.999909	B;P	0.35456	0.0;0.502	B;B	0.38921	0.001;0.285	T	0.17561	-1.0365	10	0.30854	T	0.27	-18.2514	7.375	0.26823	0.2016:0.0:0.7984:0.0	.	768;675	O75155;O75155-2	CAND2_HUMAN;.	P	675;768	ENSP00000295989:R675P;ENSP00000387641:R768P	ENSP00000295989:R675P	R	+	2	0	CAND2	12833734	0.000000	0.05858	0.788000	0.31933	0.953000	0.61014	0.898000	0.28404	1.068000	0.40764	0.511000	0.50034	CGT		0.637	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		16	26	0	0	0	1	0	16	26				
MUC4	4585	broad.mit.edu	37	3	195515483	195515483	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr3:195515483T>C	ENST00000463781.3	-	2	3427	c.2968A>G	c.(2968-2970)Acc>Gcc	p.T990A	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T990A	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	995	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T990A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGTGTGACCTGTG	0.577																																						ENST00000463781.3																			1	Substitution - Missense(1)	p.T990A(1)	lung(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2968-2970)Acc>Gcc		mucin 4, cell surface associated							65.0	57.0	60.0					3																	195515483		2197	4276	6473	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515483T>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2968A>G	3.37:g.195515483T>C	ENSP00000417498:p.Thr990Ala					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T990A	p.T990A	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3427	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	995			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.2968A>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	t	8.699	0.909304	0.17833	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.27104	1.7;1.69	1.43	1.43	0.22495	.	.	.	.	.	T	0.11324	0.0276	N	0.19112	0.55	0.09310	N	1	P	0.46912	0.886	B	0.34138	0.176	T	0.13710	-1.0499	8	.	.	.	.	5.1164	0.14836	0.0:0.0:0.0:1.0	.	990	E7ESK3	.	A	990	ENSP00000417498:T990A;ENSP00000420243:T990A	.	T	-	1	0	MUC4	196999878	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.705000	0.05052	0.932000	0.37266	0.305000	0.20034	ACC		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	13	0	0	0	1	0	3	13				
TSG101	7251	broad.mit.edu	37	11	18503375	18503375	+	Missense_Mutation	SNP	A	A	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:18503375A>T	ENST00000251968.3	-	9	1300	c.885T>A	c.(883-885)gaT>gaA	p.D295E	TSG101_ENST00000357193.3_Missense_Mutation_p.D190E|TSG101_ENST00000536719.1_Missense_Mutation_p.D295E	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	295					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						TGAGTTCTTCATCCTTCTTTT	0.363																																					GBM(99;1348 1396 8611 26475 50572)	ENST00000536719.1																			0				kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						c.(883-885)gaT>gaA		tumor susceptibility 101							116.0	115.0	115.0					11																	18503375		2199	4293	6492	SO:0001583	missense	7251				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	g.chr11:18503375A>T	U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.885T>A	11.37:g.18503375A>T	ENSP00000251968:p.Asp295Glu					TSG101_ENST00000251968.3_Missense_Mutation_p.D295E|TSG101_ENST00000357193.3_Missense_Mutation_p.D190E	p.D295E			Q99816	TS101_HUMAN			9	1019	-			295					Q9BUM5	Missense_Mutation	SNP	ENST00000251968.3	37	c.885T>A	CCDS7842.1	.	.	.	.	.	.	.	.	.	.	A	4.988	0.183522	0.09495	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	T;T;T	0.20200	2.09;2.09;2.09	5.97	2.47	0.30058	.	0.000000	0.85682	D	0.000000	T	0.11410	0.0278	L	0.31157	0.91	0.44685	D	0.997674	B	0.06786	0.001	B	0.06405	0.002	T	0.18085	-1.0348	10	0.02654	T	1	-6.8777	8.9239	0.35628	0.7218:0.0:0.2781:0.0	.	295	Q99816	TS101_HUMAN	E	295;295;190	ENSP00000438471:D295E;ENSP00000251968:D295E;ENSP00000349721:D190E	ENSP00000251968:D295E	D	-	3	2	TSG101	18459951	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.085000	0.30840	0.511000	0.28236	-0.250000	0.11733	GAT		0.363	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395906.1	NM_006292		10	8	0	0	0	1	0	10	8				
SLC26A7	115111	broad.mit.edu	37	8	92346559	92346559	+	Silent	SNP	C	C	A	rs200934477		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr8:92346559C>A	ENST00000276609.3	+	6	918	c.679C>A	c.(679-681)Cga>Aga	p.R227R	SLC26A7_ENST00000523719.1_Silent_p.R227R|SLC26A7_ENST00000309536.2_Silent_p.R227R	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											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)			CAAGTCTGTGCGACTGGAAGC	0.328													C|||	1	0.000199681	0.0	0.0	5008	,	,		18693	0.0		0.001	False		,,,				2504	0.0					ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(679-681)Cga>Aga		solute carrier family 26 (anion exchanger), member 7							155.0	145.0	148.0					8																	92346559		2202	4300	6502	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.chr8:92346559C>A	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.679C>A	8.37:g.92346559C>A						SLC26A7_ENST00000523719.1_Silent_p.R227R|SLC26A7_ENST00000309536.2_Silent_p.R227R	p.R227R	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		6	918	+			227						Silent	SNP	ENST00000276609.3	37	c.679C>A	CCDS6254.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	5.329	0.246038	0.10077	.	.	ENSG00000147606	ENST00000520818	.	.	.	5.58	2.74	0.32292	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6212	0.68584	0.5057:0.4943:0.0:0.0	.	.	.	.	X	94	.	.	C	+	3	2	SLC26A7	92415735	0.001000	0.12720	0.037000	0.18230	0.976000	0.68499	0.857000	0.27831	0.358000	0.24211	-0.152000	0.13540	TGC		0.328	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			7	22	1	0	0.000274275	1	0.000288523	7	22				
SMC1A	8243	broad.mit.edu	37	X	53432289	53432289	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chrX:53432289G>A	ENST00000322213.4	-	12	2073	c.1946C>T	c.(1945-1947)tCa>tTa	p.S649L	SMC1A_ENST00000375340.6_Missense_Mutation_p.S415L	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	649	Flexible hinge.				DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GATCACTCCTGACTTCTGGAA	0.532																																						ENST00000322213.4																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(1945-1947)tCa>tTa		structural maintenance of chromosomes 1A							48.0	41.0	44.0					X																	53432289		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53432289G>A	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1946C>T	X.37:g.53432289G>A	ENSP00000323421:p.Ser649Leu					SMC1A_ENST00000375340.6_Missense_Mutation_p.S415L	p.S649L	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN			12	2073	-			649			Flexible hinge.		O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.1946C>T	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.758257	0.89843	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	D;D	0.87650	-2.28;-2.28	4.74	4.74	0.60224	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.94870	0.8342	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.993;0.995;0.999	D	0.96026	0.9013	10	0.87932	D	0	.	15.8863	0.79251	0.0:0.0:1.0:0.0	.	415;627;649	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	L	649;415	ENSP00000323421:S649L;ENSP00000364489:S415L	ENSP00000323421:S649L	S	-	2	0	SMC1A	53449014	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.349000	0.97066	2.353000	0.79882	0.529000	0.55759	TCA		0.532	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306		3	0	0	0	0	1	0	3	0				
DHX16	8449	broad.mit.edu	37	6	30639046	30639046	+	Silent	SNP	T	T	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr6:30639046T>C	ENST00000376442.3	-	2	408	c.213A>G	c.(211-213)ccA>ccG	p.P71P		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	71					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						CTGCCTTTCGTGGTACCTGTC	0.512																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(211-213)ccA>ccG		DEAH (Asp-Glu-Ala-His) box polypeptide 16							197.0	243.0	226.0					6																	30639046		1510	2707	4217	SO:0001819	synonymous_variant	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30639046T>C	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.213A>G	6.37:g.30639046T>C							p.P71P	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			2	408	-			71					O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP	ENST00000376442.3	37	c.213A>G	CCDS4685.1																																																																																				0.512	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		8	243	0	0	0	1	0	8	243				
AARS2	57505	broad.mit.edu	37	6	44272877	44272877	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr6:44272877G>A	ENST00000244571.4	-	11	1495	c.1493C>T	c.(1492-1494)gCg>gTg	p.A498V	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTCCCCAAGCGCATGGACATC	0.607											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(1492-1494)gCg>gTg		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						93.0	79.0	84.0					6																	44272877		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44272877G>A	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1493C>T	6.37:g.44272877G>A	ENSP00000244571:p.Ala498Val		OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	TMEM151B_ENST00000438774.2_Intron	p.A498V	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	1495	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		498						Missense_Mutation	SNP	ENST00000244571.4	37	c.1493C>T	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.451372	0.43531	.	.	ENSG00000124608	ENST00000244571	T	0.72942	-0.7	5.01	5.01	0.66863	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.303789	0.35555	N	0.003127	T	0.52725	0.1752	L	0.34521	1.04	0.32636	N	0.521373	P	0.46912	0.886	B	0.41412	0.356	T	0.62530	-0.6835	10	0.62326	D	0.03	-23.862	18.3304	0.90267	0.0:0.0:1.0:0.0	.	498	Q5JTZ9	SYAM_HUMAN	V	498	ENSP00000244571:A498V	ENSP00000244571:A498V	A	-	2	0	AARS2	44380855	0.938000	0.31826	0.197000	0.23402	0.193000	0.23685	3.770000	0.55310	2.329000	0.79093	0.609000	0.83330	GCG		0.607	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		25	71	0	0	0	1	0	25	71				
ARAP3	64411	broad.mit.edu	37	5	141052393	141052393	+	Missense_Mutation	SNP	G	G	A	rs189760075	byFrequency	TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr5:141052393G>A	ENST00000239440.4	-	8	1258	c.1193C>T	c.(1192-1194)aCg>aTg	p.T398M	ARAP3_ENST00000508305.1_Missense_Mutation_p.T320M|ARAP3_ENST00000513878.1_Missense_Mutation_p.T60M	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	398	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CAGCATGCCCGTGCGGAGGGG	0.672													G|||	2	0.000399361	0.0008	0.0	5008	,	,		10522	0.0		0.001	False		,,,				2504	0.0					ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(1192-1194)aCg>aTg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3		G	MET/THR	1,4391		0,1,2195	25.0	25.0	25.0		1193	4.3	0.9	5		25	2,8588		0,2,4293	yes	missense	ARAP3	NM_022481.5	81	0,3,6488	AA,AG,GG		0.0233,0.0228,0.0231	probably-damaging	398/1545	141052393	3,12979	2196	4295	6491	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141052393G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1193C>T	5.37:g.141052393G>A	ENSP00000239440:p.Thr398Met					ARAP3_ENST00000508305.1_Missense_Mutation_p.T320M|ARAP3_ENST00000513878.1_Missense_Mutation_p.T60M	p.T398M	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			8	1258	-			398			PH 2.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.1193C>T	CCDS4266.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.05	2.717011	0.48622	2.28E-4	2.33E-4	ENSG00000120318	ENST00000522690;ENST00000508305;ENST00000239440;ENST00000513878;ENST00000504448	T;T;T;T	0.14640	2.49;3.18;3.03;2.7	4.35	4.35	0.52113	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.524808	0.21057	N	0.080884	T	0.17450	0.0419	N	0.22421	0.69	0.32816	D	0.502129	D;D;D	0.76494	0.998;0.999;0.998	P;P;P	0.60117	0.835;0.869;0.743	T	0.06643	-1.0815	10	0.34782	T	0.22	.	9.5746	0.39450	0.0995:0.0:0.9005:0.0	.	60;320;398	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	M	317;320;398;60;398	ENSP00000421826:T320M;ENSP00000239440:T398M;ENSP00000421468:T60M;ENSP00000421148:T398M	ENSP00000239440:T398M	T	-	2	0	ARAP3	141032577	0.998000	0.40836	0.931000	0.37212	0.810000	0.45777	2.841000	0.48223	2.247000	0.74100	0.462000	0.41574	ACG		0.672	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		15	12	0	0	0	1	0	15	12				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	28	0	0	0	1	0	3	28				
SDK2	54549	broad.mit.edu	37	17	71346393	71346393	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:71346393C>G	ENST00000392650.3	-	43	6021	c.6021G>C	c.(6019-6021)aaG>aaC	p.K2007N	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.K1988N	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2007					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACAGGCCGTTCTTTCGGCAGA	0.612																																						ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(6019-6021)aaG>aaC		sidekick cell adhesion molecule 2							57.0	46.0	50.0					17																	71346393		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71346393C>G	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.6021G>C	17.37:g.71346393C>G	ENSP00000376421:p.Lys2007Asn					SDK2_ENST00000388726.3_Missense_Mutation_p.K1988N|SDK2_ENST00000410094.1_5'UTR	p.K2007N	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			43	6021	-			2007					A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.6021G>C	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336478	0.60963	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.61980	0.08;0.06;1.32	5.53	3.55	0.40652	.	0.000000	0.85682	D	0.000000	T	0.70011	0.3175	L	0.53249	1.67	0.46564	D	0.999103	D;P	0.71674	0.998;0.729	D;B	0.65233	0.933;0.32	T	0.69946	-0.5007	10	0.72032	D	0.01	.	8.9789	0.35953	0.0:0.7732:0.0:0.2268	.	2007;1988	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	N	1631;2007;1988;1164;2007;348	ENSP00000376421:K2007N;ENSP00000373378:K1988N;ENSP00000407098:K1164N	ENSP00000324967:K2007N	K	-	3	2	SDK2	68857988	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	1.124000	0.31320	0.713000	0.32060	0.650000	0.86243	AAG		0.612	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		4	10	0	0	0	1	0	4	10				
DOK7	285489	broad.mit.edu	37	4	3475359	3475359	+	Silent	SNP	C	C	T	rs377367035		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr4:3475359C>T	ENST00000340083.5	+	3	392	c.327C>T	c.(325-327)ggC>ggT	p.G109G	DOK7_ENST00000389653.2_Silent_p.G109G|DOK7_ENST00000507039.1_Silent_p.G109G	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	109	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.		G -> C (in LGM; results in a significant reduction of AChR clusters). {ECO:0000269|PubMed:22661499}.		neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ATGCGCTCGGCGAGGGTGAGT	0.706																																						ENST00000340083.5																			0				kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5						c.(325-327)ggC>ggT		docking protein 7		C	,	0,3918		0,0,1959	14.0	15.0	15.0		327,327	-1.8	0.8	4		15	1,8229		0,1,4114	no	coding-synonymous,coding-synonymous	DOK7	NM_001164673.1,NM_173660.4	,	0,1,6073	TT,TC,CC		0.0122,0.0,0.0082	,	109/256,109/505	3475359	1,12147	1959	4115	6074	SO:0001819	synonymous_variant	285489				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding	g.chr4:3475359C>T	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"""chromosome 4 open reading frame 25"""	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.327C>T	4.37:g.3475359C>T						DOK7_ENST00000389653.2_Silent_p.G109G|DOK7_ENST00000507039.1_Silent_p.G109G	p.G109G	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	3	392	+			109			IRS-type PTB.|PH.		A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Silent	SNP	ENST00000340083.5	37	c.327C>T	CCDS3370.2																																																																																				0.706	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1	NM_173660		4	4	0	0	0	1	0	4	4				
DNLZ	728489	broad.mit.edu	37	9	139257510	139257510	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr9:139257510C>T	ENST00000371738.3	-	2	373	c.299G>A	c.(298-300)tGc>tAc	p.C100Y	CARD9_ENST00000460290.1_5'Flank|DNLZ_ENST00000371739.3_Intron	NM_001080849.1	NP_001074318.1	Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger	100						mitochondrion (GO:0005739)	zinc ion binding (GO:0008270)			central_nervous_system(1)|prostate(1)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)		GCAGCCGGGGCAGGTCACAAT	0.617																																						ENST00000371738.3																			0				central_nervous_system(1)|prostate(1)	2						c.(298-300)tGc>tAc		DNL-type zinc finger							128.0	109.0	115.0					9																	139257510		2203	4300	6503	SO:0001583	missense	728489						metal ion binding	g.chr9:139257510C>T	AL592301	CCDS35179.1	9q34.3	2013-01-10	2007-12-18	2007-12-18	ENSG00000213221	ENSG00000213221		"""Zinc fingers"""	33879	protein-coding gene	gene with protein product	"""translocase of inner mitochondrial membrane 15 homolog (yeast)"", ""HSP70 escort protein"""		"""chromosome 9 open reading frame 151"""	C9orf151		21530495, 22162012	Standard	NM_001080849		Approved	RP11-413M3.2, ZIM17, bA413M3.2, TIMM15, HEP	uc004chf.2	Q5SXM8	OTTHUMG00000020931	ENST00000371738.3:c.299G>A	9.37:g.139257510C>T	ENSP00000360803:p.Cys100Tyr					DNLZ_ENST00000371739.3_Intron	p.C100Y	NM_001080849.1	NP_001074318.1	Q5SXM8	DNLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)	2	373	-		Myeloproliferative disorder(178;0.0821)	100					B2RUX5|B9EJE1	Missense_Mutation	SNP	ENST00000371738.3	37	c.299G>A	CCDS35179.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258733	0.59321	.	.	ENSG00000213221	ENST00000371738	T	0.73789	-0.78	5.06	4.15	0.48705	Zinc finger, DNL-type (2);	0.000000	0.85682	U	0.000000	D	0.90769	0.7102	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93651	0.6973	10	0.87932	D	0	-19.0794	14.6504	0.68792	0.0:0.8537:0.1463:0.0	.	100	Q5SXM8	DNLZ_HUMAN	Y	100	ENSP00000360803:C100Y	ENSP00000360803:C100Y	C	-	2	0	DNLZ	138377331	1.000000	0.71417	0.965000	0.40720	0.214000	0.24535	7.353000	0.79414	1.113000	0.41760	0.462000	0.41574	TGC		0.617	DNLZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055075.2	NM_001080849		32	56	0	0	0	1	0	32	56				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	27	0	0	0	1	0	3	27				
PPP2R1A	5518	broad.mit.edu	37	19	52715971	52715971	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr19:52715971C>G	ENST00000322088.6	+	5	594	c.536C>G	c.(535-537)cCc>cGc	p.P179R	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R|PPP2R1A_ENST00000462990.1_5'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	179	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.P179R(21)|p.P179L(5)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GATGACACCCCCATGGTGCGG	0.612			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		26	Substitution - Missense(26)	p.P179R(21)|p.P179L(5)	endometrium(25)|ovary(1)	NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(535-537)cCc>cGc		protein phosphatase 2, regulatory subunit A, alpha							61.0	52.0	55.0					19																	52715971		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52715971C>G		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.536C>G	19.37:g.52715971C>G	ENSP00000324804:p.Pro179Arg					PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.P124R	p.P179R	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	594	+			179			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.536C>G	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457832	0.84317	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.16597	2.33;2.33	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.092820	0.45867	D	0.000326	T	0.55226	0.1907	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.995;0.995	T	0.70695	-0.4801	10	0.87932	D	0	-22.0504	15.1189	0.72426	0.0:1.0:0.0:0.0	.	124;179;179	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	R	169;99;179;124	ENSP00000324804:P179R;ENSP00000415067:P124R	ENSP00000324804:P179R	P	+	2	0	PPP2R1A	57407783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.760000	0.74939	2.503000	0.84419	0.655000	0.94253	CCC		0.612	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		19	34	0	0	0	1	0	19	34				
ARHGAP30	257106	broad.mit.edu	37	1	161019440	161019440	+	Missense_Mutation	SNP	G	G	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:161019440G>T	ENST00000368013.3	-	11	1780	c.1460C>A	c.(1459-1461)gCa>gAa	p.A487E	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.A310E|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.A487E	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	487					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCCTGAGTCTGCCAGGGGACT	0.557																																						ENST00000368013.3																			0				breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1459-1461)gCa>gAa		Rho GTPase activating protein 30							65.0	68.0	67.0					1																	161019440		2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161019440G>T	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.1460C>A	1.37:g.161019440G>T	ENSP00000356992:p.Ala487Glu					ARHGAP30_ENST00000368016.3_Missense_Mutation_p.A487E|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.A310E	p.A487E	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		11	1780	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		487					Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.1460C>A	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	G	8.999	0.979744	0.18812	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	T;T;T	0.30182	3.09;3.07;1.54	4.88	1.81	0.25067	.	0.403399	0.21256	N	0.077543	T	0.05318	0.0141	L	0.46157	1.445	0.25170	N	0.990289	B;B	0.32829	0.022;0.386	B;B	0.28011	0.006;0.085	T	0.39396	-0.9616	10	0.02654	T	1	.	3.9637	0.09421	0.2773:0.0:0.5412:0.1815	.	487;487	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	E	487;487;339;310	ENSP00000356995:A487E;ENSP00000356992:A487E;ENSP00000356994:A310E	ENSP00000356992:A487E	A	-	2	0	ARHGAP30	159286064	0.502000	0.26107	0.993000	0.49108	0.620000	0.37586	0.336000	0.19823	0.533000	0.28675	0.555000	0.69702	GCA		0.557	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720		18	83	1	0	1.33834e-09	1	1.4454e-09	18	83				
TP53	7157	broad.mit.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:7578203C>A	ENST00000269305.4	-	6	835	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.V216L|TP53_ENST00000445888.2_Missense_Mutation_p.V216L|TP53_ENST00000455263.2_Missense_Mutation_p.V216L|TP53_ENST00000413465.2_Missense_Mutation_p.V216L|TP53_ENST00000420246.2_Missense_Mutation_p.V216L	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	216	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(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)	GGCACCACCACACTATGTCGA	0.537		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)	ENST00000420246.2		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"""		113	Substitution - Missense(74)|Deletion - In frame(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Complex - deletion inframe(2)|Insertion - In frame(1)	p.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(1)	breast(17)|lung(14)|haematopoietic_and_lymphoid_tissue(12)|ovary(12)|upper_aerodigestive_tract(10)|large_intestine(9)|oesophagus(9)|biliary_tract(5)|central_nervous_system(5)|bone(5)|stomach(4)|liver(4)|pancreas(3)|soft_tissue(2)|urinary_tract(1)|skin(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	GRCh37	CX952222	TP53	X		c.(646-648)Gtg>Ttg	Other conserved DNA damage response genes	tumor protein p53							123.0	111.0	115.0					17																	7578203		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578203C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.646G>T	17.37:g.7578203C>A	ENSP00000269305:p.Val216Leu	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_ENST00000455263.2_Missense_Mutation_p.V216L|TP53_ENST00000359597.4_Missense_Mutation_p.V216L|TP53_ENST00000413465.2_Missense_Mutation_p.V216L|TP53_ENST00000445888.2_Missense_Mutation_p.V216L|TP53_ENST00000269305.4_Missense_Mutation_p.V216L|TP53_ENST00000574684.1_Intron	p.V216L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	778	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	216		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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.646G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221273	0.95139	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99853	-7.18;-7.18;-7.18;-7.18;-7.18;-7.18;-7.18;-7.18	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99846	0.9929	M	0.79926	2.475	0.80722	D	1	D;D;P;D;D;D;D	0.89917	0.999;0.996;0.539;0.999;0.997;0.997;1.0	D;D;P;D;D;D;D	0.91635	0.997;0.999;0.574;0.998;0.999;0.998;0.996	D	0.96590	0.9437	10	0.87932	D	0	-12.2832	16.7921	0.85592	0.0:1.0:0.0:0.0	.	177;216;216;123;216;216;216	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	216;216;216;216;216;216;205;123;84;123;84	ENSP00000410739:V216L;ENSP00000352610:V216L;ENSP00000269305:V216L;ENSP00000398846:V216L;ENSP00000391127:V216L;ENSP00000391478:V216L;ENSP00000425104:V84L;ENSP00000423862:V123L	ENSP00000269305:V216L	V	-	1	0	TP53	7518928	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GTG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		17	30	1	0	0.00074312	1	0.000771702	17	30				
UBBP4	23666	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron					ubiquitin B pseudogene 4									p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547																																						ENST00000584755.1																			3	Substitution - Missense(3)	p.I191T(3)	kidney(2)|endometrium(1)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(571-573)aTc>aCc																																						SO:0001583	missense	0							g.chr17:21731270T>C	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.572T>C	17.37:g.21731270T>C	ENSP00000463647:p.Ile191Thr					UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron	p.I191T							2	969	+									Missense_Mutation	SNP	ENST00000584755.1	37	c.572T>C																																																																																					0.547	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			4	80	0	0	0	1	0	4	80				
GEM	2669	broad.mit.edu	37	8	95262747	95262747	+	Missense_Mutation	SNP	C	C	T	rs370285889		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr8:95262747C>T	ENST00000297596.2	-	5	946	c.682G>A	c.(682-684)Gtg>Atg	p.V228M	GEM_ENST00000396194.2_Missense_Mutation_p.V228M	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	228					cell surface receptor signaling pathway (GO:0007166)|chromosome organization (GO:0051276)|immune response (GO:0006955)|metaphase plate congression (GO:0051310)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic side of plasma membrane (GO:0009898)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle midzone (GO:0051233)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			AGCTCCTTCACGTTGTGCTGG	0.562																																					GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)	ENST00000297596.2																			0				endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(682-684)Gtg>Atg		GTP binding protein overexpressed in skeletal muscle		C	MET/VAL,MET/VAL	0,4406		0,0,2203	62.0	56.0	58.0		682,682	5.6	1.0	8		58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GEM	NM_005261.3,NM_181702.2	21,21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	228/297,228/297	95262747	1,13005	2203	4300	6503	SO:0001583	missense	2669				cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding	g.chr8:95262747C>T		CCDS6261.1	8q13-q21	2014-05-09	2001-11-28		ENSG00000164949	ENSG00000164949			4234	protein-coding gene	gene with protein product	"""kinase-inducible Ras-like protein"""	600164	"""GTP-binding protein overexpressed in skeletal muscle"""			7912851, 11956230	Standard	NM_005261		Approved	KIR	uc003ygj.3	P55040	OTTHUMG00000164392	ENST00000297596.2:c.682G>A	8.37:g.95262747C>T	ENSP00000297596:p.Val228Met					GEM_ENST00000396194.2_Missense_Mutation_p.V228M	p.V228M	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		5	946	-	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	228					B2RA31	Missense_Mutation	SNP	ENST00000297596.2	37	c.682G>A	CCDS6261.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868896	0.51588	0.0	1.16E-4	ENSG00000164949	ENST00000396194;ENST00000297596	D;D	0.82344	-1.6;-1.6	5.6	5.6	0.85130	Small GTP-binding protein domain (1);	0.058600	0.64402	D	0.000002	D	0.95595	0.8568	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97136	0.9821	10	0.87932	D	0	.	19.9659	0.97266	0.0:1.0:0.0:0.0	.	228	P55040	GEM_HUMAN	M	228	ENSP00000379497:V228M;ENSP00000297596:V228M	ENSP00000297596:V228M	V	-	1	0	GEM	95331923	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	5.730000	0.68546	2.802000	0.96397	0.650000	0.86243	GTG		0.562	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702		8	36	0	0	0	1	0	8	36				
MUC4	4585	broad.mit.edu	37	3	195515435	195515435	+	Missense_Mutation	SNP	C	C	T	rs199540819	byFrequency	TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr3:195515435C>T	ENST00000463781.3	-	2	3475	c.3016G>A	c.(3016-3018)Gcc>Acc	p.A1006T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A1006T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	430	Repeat.|Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.A1006T(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGCGTGACCTGTG	0.582													.|||	29	0.00579073	0.0038	0.0202	5008	,	,		20547	0.002		0.006	False		,,,				2504	0.002					ENST00000463781.3																			2	Substitution - Missense(2)	p.A1006T(2)	endometrium(1)|kidney(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3016-3018)Gcc>Acc		mucin 4, cell surface associated							71.0	43.0	51.0					3																	195515435		692	1591	2283	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515435C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3016G>A	3.37:g.195515435C>T	ENSP00000417498:p.Ala1006Thr					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A1006T	p.A1006T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3475	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1008			Repeat.|Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.3016G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	T	9.628	1.135729	0.21123	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36699	1.25;1.24	1.24	-2.49	0.06403	.	.	.	.	.	T	0.15305	0.0369	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.01281	0.0	T	0.23154	-1.0196	8	.	.	.	.	2.3206	0.04209	0.2815:0.1916:0.0:0.5269	.	1006	E7ESK3	.	T	1006	ENSP00000417498:A1006T;ENSP00000420243:A1006T	.	A	-	1	0	MUC4	196999830	.	.	0.001000	0.08648	0.173000	0.22820	.	.	-0.641000	0.05487	0.064000	0.15345	GCC		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	5	0	0	0	1	0	3	5				
GPLD1	2822	broad.mit.edu	37	6	24473848	24473848	+	Splice_Site	SNP	A	A	G			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr6:24473848A>G	ENST00000230036.1	-	6	599	c.489T>C	c.(487-489)ttT>ttC	p.F163F	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	163					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AAACAGTACCAAAATCACCAG	0.353																																						ENST00000230036.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						c.e6+1		glycosylphosphatidylinositol specific phospholipase D1							68.0	67.0	68.0					6																	24473848		2203	4300	6503	SO:0001630	splice_region_variant	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24473848A>G	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.490+1T>C	6.37:g.24473848A>G						GPLD1_ENST00000474784.1_5'UTR	p.F163_splice	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN			6	599	-			163					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Splice_Site	SNP	ENST00000230036.1	37	c.490_splice	CCDS4553.1																																																																																				0.353	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1	NM_001503	Silent	13	17	0	0	0	1	0	13	17				
PIP5K1A	8394	broad.mit.edu	37	1	151205104	151205104	+	Silent	SNP	C	C	T	rs587724514		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:151205104C>T	ENST00000368888.4	+	7	986	c.564C>T	c.(562-564)gaC>gaT	p.D188D	PIP5K1A_ENST00000368890.4_Silent_p.D175D|PIP5K1A_ENST00000414290.2_5'Flank|PIP5K1A_ENST00000409426.1_Silent_p.D176D|PIP5K1A_ENST00000441902.2_Silent_p.D176D	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	188	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGTCCAGCGACGATGAGTTCA	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		19839	0.0		0.0	False		,,,				2504	0.001				Pancreas(80;36 1443 2325 16095 21302)	ENST00000409426.1																			0				breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5						c.(526-528)gaC>gaT		phosphatidylinositol-4-phosphate 5-kinase, type I, alpha							101.0	93.0	96.0					1																	151205104		2203	4300	6503	SO:0001819	synonymous_variant	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151205104C>T	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.564C>T	1.37:g.151205104C>T						PIP5K1A_ENST00000368890.4_Silent_p.D175D|PIP5K1A_ENST00000368888.4_Silent_p.D188D|PIP5K1A_ENST00000441902.2_Silent_p.D176D	p.D176D			Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		6	973	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		188			PIPK.		A8K4Q0|B4DIN0|Q99754|Q99756	Silent	SNP	ENST00000368888.4	37	c.528C>T	CCDS44219.1																																																																																				0.473	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		11	42	0	0	0	1	0	11	42				
OSBPL6	114880	broad.mit.edu	37	2	179213992	179213992	+	Silent	SNP	C	C	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr2:179213992C>A	ENST00000190611.4	+	12	1405	c.1029C>A	c.(1027-1029)tcC>tcA	p.S343S	OSBPL6_ENST00000409631.1_Silent_p.S343S|OSBPL6_ENST00000409045.3_Silent_p.S312S|OSBPL6_ENST00000392505.2_Silent_p.S368S|OSBPL6_ENST00000357080.4_Silent_p.S312S|OSBPL6_ENST00000315022.2_Silent_p.S347S|OSBPL6_ENST00000359685.3_Silent_p.S343S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	343					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GCTTGCATTCCTCCAACCCCA	0.438																																						ENST00000190611.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1027-1029)tcC>tcA		oxysterol binding protein-like 6							259.0	247.0	251.0					2																	179213992		2203	4300	6503	SO:0001819	synonymous_variant	114880				lipid transport		lipid binding	g.chr2:179213992C>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1029C>A	2.37:g.179213992C>A						OSBPL6_ENST00000409631.1_Silent_p.S343S|OSBPL6_ENST00000409045.3_Silent_p.S312S|OSBPL6_ENST00000392505.2_Silent_p.S368S|OSBPL6_ENST00000359685.3_Silent_p.S343S|OSBPL6_ENST00000357080.4_Silent_p.S312S|OSBPL6_ENST00000315022.2_Silent_p.S347S	p.S343S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		12	1405	+			343					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	c.1029C>A	CCDS2277.1																																																																																				0.438	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		70	82	1	0	2.47556e-37	1	2.82423e-37	70	82				
ARNTL	406	broad.mit.edu	37	11	13393792	13393792	+	Silent	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:13393792C>T	ENST00000403290.1	+	13	1258	c.903C>T	c.(901-903)gaC>gaT	p.D301D	ARNTL_ENST00000389707.4_Silent_p.D300D|ARNTL_ENST00000396441.3_Silent_p.D300D|ARNTL_ENST00000403482.3_Silent_p.D299D|ARNTL_ENST00000403510.3_Silent_p.D257D|ARNTL_ENST00000389708.3_Silent_p.D301D|ARNTL_ENST00000401424.1_Silent_p.D258D|ARNTL_ENST00000361003.4_Intron|ARNTL_ENST00000497429.1_3'UTR			O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	301					circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of cell cycle (GO:0051726)|regulation of cellular senescence (GO:2000772)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|nuclear body (GO:0016604)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|Hsp90 protein binding (GO:0051879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|signal transducer activity (GO:0004871)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		TGGATGAAGACAACGAACCAG	0.498																																						ENST00000389708.3																			0				breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20						c.(901-903)gaC>gaT		aryl hydrocarbon receptor nuclear translocator-like							100.0	87.0	91.0					11																	13393792		2200	4294	6494	SO:0001819	synonymous_variant	406				circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr11:13393792C>T	D89722	CCDS31430.1, CCDS44543.1, CCDS73259.1	11p15	2013-05-21			ENSG00000133794	ENSG00000133794		"""Basic helix-loop-helix proteins"""	701	protein-coding gene	gene with protein product		602550				9144434, 9079689	Standard	XM_005252930		Approved	MOP3, JAP3, BMAL1, PASD3, bHLHe5	uc001mkp.3	O00327	OTTHUMG00000150623	ENST00000403290.1:c.903C>T	11.37:g.13393792C>T						ARNTL_ENST00000401424.1_Silent_p.D258D|ARNTL_ENST00000396441.3_Silent_p.D300D|ARNTL_ENST00000403290.1_Silent_p.D301D|ARNTL_ENST00000403482.3_Silent_p.D299D|ARNTL_ENST00000361003.4_Intron|ARNTL_ENST00000403510.3_Silent_p.D257D|ARNTL_ENST00000497429.1_3'UTR|ARNTL_ENST00000389707.4_Silent_p.D300D	p.D301D			O00327	BMAL1_HUMAN		Epithelial(150;0.0243)	13	1258	+			301					A2I2N6|A8K645|B5ME11|B7WPG7|D3DQW6|O00313|O00314|O00315|O00316|O00317|Q4G136|Q8IUT4|Q99631|Q99649	Silent	SNP	ENST00000403290.1	37	c.903C>T																																																																																					0.498	ARNTL-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000319173.1	NM_001178		35	2	0	0	0	1	0	35	2				
MT-CO3	4514	broad.mit.edu	37	M	9380	9380	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chrM:9380G>A	ENST00000362079.2	+	1	174	c.174G>A	c.(172-174)tgG>tgA	p.W58*	MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-ND3_ENST00000361227.2_5'Flank			P00414	COX3_HUMAN	mitochondrially encoded cytochrome c oxidase III	58					aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						TACCAATGGTGGCGCGATGTA	0.473																																						ENST00000362079.2																			0				breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						c.(172-174)tgG>tgA		mitochondrially encoded cytochrome c oxidase III																																				SO:0001587	stop_gained	4514							g.chrM:9380G>A			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938		"""Mitochondrial respiratory chain complex / Complex IV"""	7422	protein-coding gene	gene with protein product		516050	"""cytochrome c oxidase III"""	MTCO3			Standard			Approved	COX3, COIII, CO3		P00414		ENST00000362079.2:c.174G>A	M.37:g.9380G>A	ENSP00000354982:p.Trp58*						p.58_58ins*							1	174	+								Q14Y83	Nonsense_Mutation	SNP	ENST00000362079.2	37	c.174G>A																																																																																					0.473	MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024032		20	115	0	0	0	1	0	20	115				
CYP4F3	4051	broad.mit.edu	37	19	15760898	15760898	+	Missense_Mutation	SNP	C	C	T	rs374257337		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr19:15760898C>T	ENST00000221307.8	+	7	870	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	CYP4F3_ENST00000585846.1_Missense_Mutation_p.R275C|CYP4F3_ENST00000591058.1_Missense_Mutation_p.R275C|CYP4F3_ENST00000586182.2_Missense_Mutation_p.R275C	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	275					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCAGGAGCGGCGCCGCACCCT	0.572																																						ENST00000221307.7																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(823-825)Cgc>Tgc		cytochrome P450, family 4, subfamily F, polypeptide 3		C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	106.0	96.0	99.0		823,823,823	4.0	0.6	19		99	1,8599		0,1,4299	no	missense,missense,missense	CYP4F3	NM_001199209.1,NM_001199208.1,NM_000896.2	180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	275/521,275/521,275/521	15760898	1,13005	2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15760898C>T	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.823C>T	19.37:g.15760898C>T	ENSP00000221307:p.Arg275Cys					CYP4F3_ENST00000585846.1_Missense_Mutation_p.R275C|CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000586182.1_Missense_Mutation_p.R275C|CYP4F3_ENST00000591058.1_Missense_Mutation_p.R275C	p.R275C	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			7	871	+			275					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.823C>T	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	13.01	2.109451	0.37242	0.0	1.16E-4	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.71698	-0.59	3.99	3.99	0.46301	.	0.411149	0.18055	U	0.153135	T	0.79458	0.4449	H	0.95187	3.635	0.30928	N	0.727244	B;B	0.31153	0.31;0.122	B;B	0.36418	0.224;0.224	T	0.82041	-0.0654	10	0.72032	D	0.01	.	9.1108	0.36725	0.2186:0.7813:0.0:0.0	.	275;275	B7Z8Z3;Q08477	.;CP4F3_HUMAN	C	202;275	ENSP00000221307:R275C	ENSP00000221307:R275C	R	+	1	0	CYP4F3	15621898	0.816000	0.29132	0.642000	0.29436	0.800000	0.45204	2.058000	0.41374	1.783000	0.52377	0.313000	0.20887	CGC		0.572	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		48	53	0	0	0	1	0	48	53				
B3GAT1	27087	broad.mit.edu	37	11	134253812	134253812	+	Missense_Mutation	SNP	G	G	A			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr11:134253812G>A	ENST00000524765.1	-	3	4927	c.383C>T	c.(382-384)cCg>cTg	p.P128L	B3GAT1_ENST00000537389.1_Missense_Mutation_p.P141L|B3GAT1_ENST00000312527.4_Missense_Mutation_p.P128L|B3GAT1_ENST00000392580.1_Missense_Mutation_p.P128L|B3GAT1_ENST00000531510.1_5'Flank			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	128					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|metal ion binding (GO:0046872)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		CGCGGTCAGCGGCGTCCGGCG	0.716																																						ENST00000524765.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(382-384)cCg>cTg		beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)							23.0	22.0	22.0					11																	134253812		2175	4210	6385	SO:0001583	missense	27087				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	g.chr11:134253812G>A	AB029396	CCDS8500.1	11q25	2014-07-08	2014-07-08		ENSG00000109956	ENSG00000109956	2.4.1.135	"""CD molecules"", ""Beta-1,3-glucuronyltransferases"""	921	protein-coding gene	gene with protein product	"""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1"", ""glucuronosyltransferase P"""	151290	"""CD57 antigen"""	CD57, LEU7			Standard	XM_005271506		Approved	GlcAT-P, HNK-1, NK-1	uc001qhq.3	Q9P2W7	OTTHUMG00000167180	ENST00000524765.1:c.383C>T	11.37:g.134253812G>A	ENSP00000433847:p.Pro128Leu					B3GAT1_ENST00000537389.1_Missense_Mutation_p.P141L|B3GAT1_ENST00000312527.4_Missense_Mutation_p.P128L|B3GAT1_ENST00000392580.1_Missense_Mutation_p.P128L	p.P128L			Q9P2W7	B3GA1_HUMAN		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)	3	4927	-	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)	128					Q96FS7	Missense_Mutation	SNP	ENST00000524765.1	37	c.383C>T	CCDS8500.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.188527	0.57909	.	.	ENSG00000109956	ENST00000392580;ENST00000312527;ENST00000524765;ENST00000537389	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.39	1.38	0.22167	.	0.153660	0.64402	N	0.000012	T	0.47985	0.1475	L	0.36672	1.1	0.80722	D	1	B;B	0.17268	0.017;0.021	B;B	0.26202	0.064;0.067	T	0.29640	-1.0005	10	0.40728	T	0.16	-15.2404	6.9611	0.24597	0.2103:0.1263:0.6633:0.0	.	141;128	F5H0S0;Q9P2W7	.;B3GA1_HUMAN	L	128;128;128;141	ENSP00000376359:P128L;ENSP00000307875:P128L;ENSP00000433847:P128L;ENSP00000445983:P141L	ENSP00000307875:P128L	P	-	2	0	B3GAT1	133759022	0.460000	0.25776	0.024000	0.17045	0.828000	0.46876	2.366000	0.44204	0.250000	0.21479	0.561000	0.74099	CCG		0.716	B3GAT1-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393639.1	NM_018644		8	4	0	0	0	1	0	8	4				
LGR6	59352	broad.mit.edu	37	1	202245457	202245457	+	Missense_Mutation	SNP	C	C	G			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:202245457C>G	ENST00000367278.3	+	5	541	c.452C>G	c.(451-453)tCc>tGc	p.S151C	LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Missense_Mutation_p.S99C|LGR6_ENST00000308543.3_3'UTR	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	151					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						AACCTCATCTCCCTGGTCCCG	0.617																																						ENST00000367278.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						c.(451-453)tCc>tGc		leucine-rich repeat containing G protein-coupled receptor 6							66.0	63.0	64.0					1																	202245457		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202245457C>G	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.452C>G	1.37:g.202245457C>G	ENSP00000356247:p.Ser151Cys					LGR6_ENST00000255432.7_Missense_Mutation_p.S99C|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Intron	p.S151C	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN			5	541	+			151					Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.452C>G	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926965	0.73327	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000367277;ENST00000423542	T;T;T	0.27256	3.43;3.43;1.68	5.07	5.07	0.68467	.	0.127040	0.56097	D	0.000033	T	0.51568	0.1682	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.976;0.992	T	0.54153	-0.8336	10	0.66056	D	0.02	.	14.2701	0.66147	0.0:0.8513:0.1487:0.0	.	99;151	Q9HBX8-2;Q9HBX8	.;LGR6_HUMAN	C	151;99;77;77	ENSP00000356247:S151C;ENSP00000255432:S99C;ENSP00000402284:S77C	ENSP00000255432:S99C	S	+	2	0	LGR6	200512080	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	3.006000	0.49529	2.632000	0.89209	0.637000	0.83480	TCC		0.617	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		12	47	0	0	0	1	0	12	47				
MYO16	23026	broad.mit.edu	37	13	109793236	109793236	+	Missense_Mutation	SNP	C	C	T			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr13:109793236C>T	ENST00000357550.2	+	31	4651	c.4610C>T	c.(4609-4611)cCg>cTg	p.P1537L	MYO16_ENST00000356711.2_Missense_Mutation_p.P1537L	NM_001198950.1	NP_001185879.1			myosin XVI											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)			GGGTCGAGCCCGCTGTCCCCG	0.716																																						ENST00000356711.2																			0				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						c.(4609-4611)cCg>cTg		myosin XVI							17.0	21.0	19.0					13																	109793236		2190	4288	6478	SO:0001583	missense	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.chr13:109793236C>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.4610C>T	13.37:g.109793236C>T	ENSP00000350160:p.Pro1537Leu					MYO16_ENST00000357550.2_Missense_Mutation_p.P1537L	p.P1537L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		32	4736	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1537			Pro-rich.			Missense_Mutation	SNP	ENST00000357550.2	37	c.4610C>T	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215180	0.58452	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	T;T	0.48836	0.8;0.8	4.8	4.8	0.61643	.	0.000000	0.40469	U	0.001095	T	0.66107	0.2756	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66333	-0.5950	9	.	.	.	.	16.8616	0.86020	0.0:1.0:0.0:0.0	.	1537	Q9Y6X6	MYO16_HUMAN	L	1537	ENSP00000349145:P1537L;ENSP00000350160:P1537L	.	P	+	2	0	MYO16	108591237	1.000000	0.71417	0.060000	0.19600	0.007000	0.05969	7.212000	0.77941	2.227000	0.72691	0.467000	0.42956	CCG		0.716	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		5	16	0	0	0	1	0	5	16				
LYPLA2	11313	broad.mit.edu	37	1	24119221	24119226	+	In_Frame_Del	DEL	GTGTCT	GTGTCT	-			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:24119221_24119226delGTGTCT	ENST00000374514.3	+	2	356_361	c.49_54delGTGTCT	c.(49-54)gtgtctdel	p.VS17del	LYPLA2_ENST00000374502.3_In_Frame_Del_p.VS17del|LYPLA2_ENST00000374501.1_5'Flank|LYPLA2_ENST00000374505.2_In_Frame_Del_p.VS17del|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000400061.1_In_Frame_Del_p.VS17del|LYPLA2_ENST00000374503.3_In_Frame_Del_p.VS17del	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	17					fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TGCTGCCACCGTGTCTGGAGCTGAGC	0.65																																						ENST00000374514.3																			0				endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(49-54)del		lysophospholipase II																																				SO:0001651	inframe_deletion	11313				fatty acid metabolic process	cytoplasm	hydrolase activity	g.chr1:24119221_24119226delGTGTCT	AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961	ENST00000374514.3:c.49_54delGTGTCT	1.37:g.24119221_24119226delGTGTCT	ENSP00000363638:p.Val17_Ser18del					LYPLA2_ENST00000400061.1_In_Frame_Del_p.VS17del|LYPLA2_ENST00000374502.3_In_Frame_Del_p.VS17del|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374503.3_In_Frame_Del_p.VS17del|LYPLA2_ENST00000374505.2_In_Frame_Del_p.VS17del	p.VS17del	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)	2	356_361	+		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	17					Q7Z4Z2	In_Frame_Del	DEL	ENST00000374514.3	37	c.49_54delGTGTCT	CCDS241.1																																																																																				0.650	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1			20	73						20	73	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	lincRNA	DEL	T	T	-	rs377003181		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:121116645delT	ENST00000437515.1	-	0	329					NR_104189.1																						CAAGCCCCCCTTTAAAAAAAA	0.393																																						ENST00000437515.1																			0																																																			0							g.chr1:121116645delT																													1.37:g.121116645delT														0	329	-									RNA	DEL	ENST00000437515.1	37																																																																																						0.393	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			7	35						7	35	---	---	---	---
RP11-423O2.5	0	broad.mit.edu	37	1	142803276	142803277	+	lincRNA	INS	-	-	GC	rs140309984|rs145869340		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:142803276_142803277insGC	ENST00000423385.1	-	0	1688_1689																											ACCAAACCAAaacaacaacaac	0.347																																						ENST00000423385.1																			0																																																			0							g.chr1:142803276_142803277insGC																													1.37:g.142803276_142803277insGC														0	1688_1689	-									RNA	INS	ENST00000423385.1	37																																																																																						0.347	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			3	6						3	6	---	---	---	---
SRGAP2B	647135	broad.mit.edu	37	1	144011819	144011820	+	RNA	INS	-	-	T	rs11459942|rs11411896	byFrequency	TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr1:144011819_144011820insT	ENST00000467933.1	+	0	915							P0DMP2	SRG2B_HUMAN	SLIT-ROBO Rho GTPase activating protein 2B						nervous system development (GO:0007399)												tgcctggctaatttttttttgt	0.554													?|TTTTTTTTT|TTTTTTTTTT|unsure	2209	0.441094	0.4569	0.438	5008	,	,		44514	0.4147		0.4384	False		,,,				2504	0.4519					ENST00000467933.1																			0																																																			0							g.chr1:144011819_144011820insT		CCDS72854.1	1q21.1	2014-07-10	2013-02-13	2012-05-08	ENSG00000196369	ENSG00000196369			35237	protein-coding gene	gene with protein product		614703	"""SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2"", ""SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)"""	SRGAP2P2		22559943, 22559944	Standard	NM_001271870		Approved		uc010oxm.1	P0DMP2	OTTHUMG00000041442		1.37:g.144011828_144011828dupT														0	915	+									RNA	INS	ENST00000467933.1	37																																																																																						0.554	SRGAP2B-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352915.1	NM_001271870		2	4						2	4	---	---	---	---
LOC728339	728339	broad.mit.edu	37	4	190767268	190767268	+	lincRNA	DEL	C	C	-	rs79051841|rs371312217		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr4:190767268delC	ENST00000511785.1	-	0	425																											ATTCTCCGTGCCGTGTCCCTC	0.627																																						ENST00000511785.1																			0																																																			0							g.chr4:190767268delC																													4.37:g.190767268delC														0	425	-									RNA	DEL	ENST00000511785.1	37																																																																																						0.627	AF146191.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000361301.1			2	4						2	4	---	---	---	---
AZGP1P1	646282	broad.mit.edu	37	7	99578706	99578706	+	RNA	DEL	A	A	-	rs199656890		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr7:99578706delA	ENST00000425474.1	+	0	87					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		cttagtttacagtgaaaacaa	0.522																																						ENST00000425474.1																			0																																																			0							g.chr7:99578706delA	AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99578706delA								NR_036679.1						0	87	+									RNA	DEL	ENST00000425474.1	37																																																																																						0.522	AZGP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344467.1			2	4						2	4	---	---	---	---
RP11-459E5.1	0	broad.mit.edu	37	8	22566479	22566481	+	RNA	DEL	ATC	ATC	-	rs200329455		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr8:22566479_22566481delATC	ENST00000523627.1	+	0	164																											catcaccatgatcatcatcacca	0.438																																						ENST00000523627.1																			0																																																			0							g.chr8:22566479_22566481delATC																													8.37:g.22566485_22566487delATC														0	164	+									RNA	DEL	ENST00000523627.1	37																																																																																						0.438	RP11-459E5.1-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000375190.1			3	5						3	5	---	---	---	---
LINC01410	103352539	broad.mit.edu	37	9	66466004	66466005	+	lincRNA	INS	-	-	A	rs57947559	byFrequency	TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr9:66466004_66466005insA	ENST00000424345.1	+	0	637_638																											GATTCTTCAGTAAAAAAAAGTA	0.307																																						ENST00000424345.1																			0																																																			0							g.chr9:66466004_66466005insA																													9.37:g.66466012_66466012dupA														0	637_638	+									RNA	INS	ENST00000424345.1	37																																																																																						0.307	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			4	9						4	9	---	---	---	---
LOC403323	403323	broad.mit.edu	37	9	66530005	66530007	+	lincRNA	DEL	AAT	AAT	-	rs199847323		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr9:66530005_66530007delAAT	ENST00000445604.2	-	0	669																											AAATACCTTGAATAATAACAGAT	0.493																																						ENST00000445604.2																			0																																																			0							g.chr9:66530005_66530007delAAT																													9.37:g.66530008_66530010delAAT														0	669	-									RNA	DEL	ENST00000445604.2	37																																																																																						0.493	RP11-262H14.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037074.2			2	4						2	4	---	---	---	---
PTPN6	5777	broad.mit.edu	37	12	7064144	7064145	+	In_Frame_Ins	INS	-	-	GGTCAT			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr12:7064144_7064145insGGTCAT	ENST00000318974.9	+	4	747_748	c.503_504insGGTCAT	c.(502-507)aaggtc>aaGGTCATggtc	p.169_170insMV	PTPN6_ENST00000456013.1_In_Frame_Ins_p.169_170insMV|PTPN6_ENST00000399448.1_In_Frame_Ins_p.171_172insMV|PTPN6_ENST00000447931.2_In_Frame_Ins_p.130_131insMV	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	169	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						ACCCACATCAAGGTCATGTGCG	0.653																																						ENST00000456013.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						c.(502-504)agt>aGGTCATgt		protein tyrosine phosphatase, non-receptor type 6																																				SO:0001652	inframe_insertion	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7064144_7064145insGGTCAT		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.504_509dupGGTCAT	12.37:g.7064145_7064150dupGGTCAT	ENSP00000326010:p.Val169_Met170insMetVal					PTPN6_ENST00000447931.2_In_Frame_Ins_p.129_129S>RSC|PTPN6_ENST00000399448.1_In_Frame_Ins_p.170_170S>RSC|PTPN6_ENST00000318974.9_In_Frame_Ins_p.168_168S>RSC	p.168_168S>RSC	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN			4	745_746	+			168			SH2 2.		A8K306|G3V0F8|Q969V8|Q9UK67	In_Frame_Ins	INS	ENST00000318974.9	37	c.503_504insGGTCAT	CCDS44820.1																																																																																				0.653	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		41	77						41	77	---	---	---	---
RP11-146E13.4	0	broad.mit.edu	37	14	19826354	19826354	+	lincRNA	DEL	C	C	-	rs140104454		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr14:19826354delC	ENST00000548109.1	+	0	72																											GATACCTAGGCCCCTAGTAAA	0.542																																						ENST00000548109.1																			0																																																			0							g.chr14:19826354delC																													14.37:g.19826354delC														0	72	+									RNA	DEL	ENST00000548109.1	37																																																																																						0.542	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			2	4						2	4	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72821810	72821810	+	Frame_Shift_Del	DEL	G	G	-	rs370543300		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr16:72821810delG	ENST00000268489.5	-	10	11037	c.10365delC	c.(10363-10365)cccfs	p.P3455fs	RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.P2541fs|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3455					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAACAATGAAGGGGTCGTAGA	0.582																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10363-10365)ccfs		zinc finger homeobox 3							89.0	90.0	90.0					16																	72821810		2198	4300	6498	SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821810delG	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10365delC	16.37:g.72821810delG	ENSP00000268489:p.Pro3455fs					ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.P2541fs	p.P3455fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11037	-		Ovarian(137;0.13)	3455					D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	ENST00000268489.5	37	c.10365delC	CCDS10908.1																																																																																				0.582	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		52	13						52	13	---	---	---	---
LINC01081	101154687	broad.mit.edu	37	16	86260245	86260245	+	lincRNA	DEL	C	C	-			TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr16:86260245delC	ENST00000597373.1	-	0	261					NR_104139.1				long intergenic non-protein coding RNA 1081																		TGTGAACTCACCAAGTGCATT	0.547																																						ENST00000597373.1																			0																																																			0							g.chr16:86260245delC	CR737045, HY035025		16q24.1	2014-05-21				ENSG00000268754		"""Long non-coding RNAs"""	49124	non-coding RNA	RNA, long non-coding		614977				24842713	Standard	NR_104139		Approved	TCONS_00024764					16.37:g.86260245delC														0	261	-									RNA	DEL	ENST00000597373.1	37																																																																																						0.547	LINC01081-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000467199.1	NR_104139		2	4						2	4	---	---	---	---
KDM4B	23030	broad.mit.edu	37	19	5119803	5119805	+	In_Frame_Del	DEL	GAG	GAG	-	rs147027017		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr19:5119803_5119805delGAG	ENST00000159111.4	+	11	1473_1475	c.1255_1257delGAG	c.(1255-1257)gagdel	p.E424del	KDM4B_ENST00000536461.1_In_Frame_Del_p.E458del	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	424					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGTTGACCCCGAGGAGGAGGAGG	0.709																																						ENST00000159111.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(1255-1257)del		lysine (K)-specific demethylase 4B				64,3356		3,58,1649						-8.8	0.3		dbSNP_134	10	119,6617		9,101,3258	no	coding	KDM4B	NM_015015.2		12,159,4907	A1A1,A1R,RR		1.7666,1.8713,1.8019				183,9973				SO:0001651	inframe_deletion	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5119803_5119805delGAG	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.1255_1257delGAG	19.37:g.5119812_5119814delGAG	ENSP00000159111:p.Glu424del					KDM4B_ENST00000536461.1_In_Frame_Del_p.E458del	p.E424del	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN			11	1473_1475	+			424					B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	In_Frame_Del	DEL	ENST00000159111.4	37	c.1255_1257delGAG	CCDS12138.1																																																																																				0.709	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		2	4						2	4	---	---	---	---
LINC01598	105379478	broad.mit.edu	37	20	29584135	29584136	+	RNA	INS	-	-	A	rs73621631|rs375796823		TCGA-N8-A4PL-01A-11D-A28R-08	TCGA-N8-A4PL-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84e0da33-7bb8-457f-a191-143ec728aa63	4ab249eb-a59b-4065-a5f4-ad07b0596c48	g.chr20:29584135_29584136insA	ENST00000432067.1	-	0	288																											gaccctatttcaaaaaaaTTAT	0.431																																						ENST00000432067.1																			0																																																			0							g.chr20:29584135_29584136insA																													20.37:g.29584142_29584142dupA														0	288	-									RNA	INS	ENST00000432067.1	37																																																																																						0.431	RP4-610C12.1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078489.3			4	9						4	9	---	---	---	---
