#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
DOCK11	139818	broad.mit.edu	37	X	117700016	117700016	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:117700016T>A	ENST00000276202.7	+	8	805	c.742T>A	c.(742-744)Tat>Aat	p.Y248N	DOCK11_ENST00000276204.6_Missense_Mutation_p.Y248N	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	248	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GTTAGATAAATATAGCCATTA	0.378																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(742-744)Tat>Aat		dedicator of cytokinesis 11							132.0	131.0	132.0					X																	117700016		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117700016T>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.742T>A	X.37:g.117700016T>A	ENSP00000276202:p.Tyr248Asn					DOCK11_ENST00000276202.7_Missense_Mutation_p.Y248N	p.Y248N			Q5JSL3	DOC11_HUMAN			8	816	+			248			PH.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.742T>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.371112	0.42003	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.73681	-0.77;-0.77	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.73377	0.3579	L	0.34521	1.04	0.48975	D	0.999736	P;P	0.51933	0.949;0.949	P;P	0.53146	0.719;0.719	T	0.71540	-0.4562	10	0.29301	T	0.29	-10.1344	14.3048	0.66377	0.0:0.0:0.0:1.0	.	248;248	A6NIW2;Q5JSL3	.;DOC11_HUMAN	N	248	ENSP00000276204:Y248N;ENSP00000276202:Y248N	ENSP00000276202:Y248N	Y	+	1	0	DOCK11	117584044	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.460000	0.45031	1.837000	0.53436	0.345000	0.21793	TAT		0.378	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		5	192	0	0	0	1	0	5	192				
PDILT	204474	broad.mit.edu	37	16	20396116	20396116	+	Missense_Mutation	SNP	T	T	C	rs534001534		TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr16:20396116T>C	ENST00000302451.4	-	3	508	c.260A>G	c.(259-261)gAg>gGg	p.E87G	RP11-429K17.1_ENST00000577173.1_RNA	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	87					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCCCATGATCTCCACAGCTTT	0.502																																						ENST00000302451.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						c.(259-261)gAg>gGg		protein disulfide isomerase-like, testis expressed							320.0	313.0	316.0					16																	20396116		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20396116T>C		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.260A>G	16.37:g.20396116T>C	ENSP00000305465:p.Glu87Gly						p.E87G	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN			3	508	-			87					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.260A>G	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.172728	0.57584	.	.	ENSG00000169340	ENST00000302451	T	0.03635	3.86	5.43	5.43	0.79202	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.710219	0.14203	N	0.334552	T	0.03783	0.0107	N	0.25957	0.775	0.29656	N	0.843602	B	0.21071	0.051	B	0.24541	0.054	T	0.28396	-1.0045	10	0.22109	T	0.4	.	11.7829	0.52026	0.0:0.0:0.0:1.0	.	87	Q8N807	PDILT_HUMAN	G	87	ENSP00000305465:E87G	ENSP00000305465:E87G	E	-	2	0	PDILT	20303617	0.866000	0.29940	0.518000	0.27811	0.602000	0.36980	1.535000	0.36061	2.279000	0.76181	0.533000	0.62120	GAG		0.502	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		175	292	0	0	0	1	0	175	292				
YTHDF2	51441	broad.mit.edu	37	1	29069475	29069475	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr1:29069475T>G	ENST00000373812.3	+	4	1055	c.693T>G	c.(691-693)atT>atG	p.I231M	YTHDF2_ENST00000541996.1_Missense_Mutation_p.I181M|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000542507.1_Missense_Mutation_p.I231M	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	231	Localization to mRNA processing bodies (P-bodies).				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCCACCATTGCTCCTCCAA	0.468																																						ENST00000373812.3																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(691-693)atT>atG		YTH domain family, member 2							110.0	109.0	109.0					1																	29069475		1954	4151	6105	SO:0001583	missense	51441				humoral immune response			g.chr1:29069475T>G	AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.693T>G	1.37:g.29069475T>G	ENSP00000362918:p.Ile231Met					YTHDF2_ENST00000542507.1_Missense_Mutation_p.I231M|YTHDF2_ENST00000541996.1_Missense_Mutation_p.I181M|YTHDF2_ENST00000478283.1_3'UTR	p.I231M	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	4	1055	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	231					A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	ENST00000373812.3	37	c.693T>G	CCDS41296.1	.	.	.	.	.	.	.	.	.	.	T	9.079	0.998812	0.19121	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996;ENST00000396232	T;T;T	0.38722	1.12;1.12;1.12	5.04	3.91	0.45181	.	0.106321	0.64402	D	0.000002	T	0.16981	0.0408	N	0.02247	-0.625	0.44247	D	0.997098	B;B	0.17268	0.021;0.021	B;B	0.16722	0.016;0.016	T	0.05903	-1.0857	9	.	.	.	-18.2643	10.0414	0.42160	0.0:0.0811:0.0:0.9189	.	231;231	B5BU99;Q9Y5A9	.;YTHD2_HUMAN	M	231;231;181;231	ENSP00000444660:I231M;ENSP00000362918:I231M;ENSP00000439394:I181M	.	I	+	3	3	YTHDF2	28942062	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.601000	0.36773	1.055000	0.40461	0.529000	0.55759	ATT		0.468	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1	NM_016258		4	167	0	0	0	1	0	4	167				
SHARPIN	81858	broad.mit.edu	37	8	145154909	145154909	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr8:145154909G>A	ENST00000398712.2	-	3	876	c.440C>T	c.(439-441)cCc>cTc	p.P147L	SHARPIN_ENST00000533948.1_5'UTR	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	147	Self-association. {ECO:0000250}.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCTTCCGGGGGACTGGGCAG	0.617																																						ENST00000398712.2																			0				breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7						c.(439-441)cCc>cTc		SHANK-associated RH domain interactor							169.0	177.0	174.0					8																	145154909		2134	4231	6365	SO:0001583	missense	81858				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding	g.chr8:145154909G>A	AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.440C>T	8.37:g.145154909G>A	ENSP00000381698:p.Pro147Leu					SHARPIN_ENST00000533948.1_5'UTR	p.P147L	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	876	-	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		147			Self-association (By similarity).		A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Missense_Mutation	SNP	ENST00000398712.2	37	c.440C>T	CCDS43777.1	.	.	.	.	.	.	.	.	.	.	G	9.459	1.092523	0.20471	.	.	ENSG00000179526	ENST00000398712;ENST00000359551	T;T	0.33654	1.87;1.4	3.63	0.75	0.18387	.	3.777120	0.00575	N	0.000314	T	0.42607	0.1210	L	0.60455	1.87	0.09310	N	1	P	0.48162	0.906	P	0.46585	0.521	T	0.25398	-1.0133	10	0.62326	D	0.03	.	6.1162	0.20127	0.3506:0.0:0.6494:0.0	.	147	Q9H0F6	SHRPN_HUMAN	L	147	ENSP00000381698:P147L;ENSP00000352551:P147L	ENSP00000352551:P147L	P	-	2	0	SHARPIN	145226897	0.009000	0.17119	0.009000	0.14445	0.132000	0.20833	0.178000	0.16820	0.033000	0.15463	0.462000	0.41574	CCC		0.617	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382901.1	NM_030974		9	142	0	0	0	1	0	9	142				
EDF1	8721	broad.mit.edu	37	9	139757897	139757897	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr9:139757897G>T	ENST00000224073.1	-	3	161	c.134C>A	c.(133-135)gCt>gAt	p.A45D	EDF1_ENST00000371648.4_Missense_Mutation_p.A45D|EDF1_ENST00000371649.1_Missense_Mutation_p.A45D	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	45	Interaction with NR5A2, PPARG and NR1H3.				endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTGGCCAGCAGCCCCTGGAGT	0.542																																						ENST00000371648.4																			0				lung(1)	1						c.(133-135)gCt>gAt		endothelial differentiation-related factor 1							82.0	67.0	72.0					9																	139757897		2203	4300	6503	SO:0001583	missense	8721				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity	g.chr9:139757897G>T	AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"""multiprotein bridging factor-1"""	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948	ENST00000224073.1:c.134C>A	9.37:g.139757897G>T	ENSP00000224073:p.Ala45Asp					EDF1_ENST00000224073.1_Missense_Mutation_p.A45D|EDF1_ENST00000371649.1_Missense_Mutation_p.A45D	p.A45D	NM_153200.1	NP_694880.1	O60869	EDF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)	3	141	-	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)	45			Interaction with NR5A2, PPARG and NR1H3.		Q5T5T2|Q9UIM1	Missense_Mutation	SNP	ENST00000224073.1	37	c.134C>A	CCDS7011.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975920	0.34848	.	.	ENSG00000107223	ENST00000371649;ENST00000224073;ENST00000371648	.	.	.	5.44	4.53	0.55603	Multiprotein bridging factor 1, N-terminal (1);	0.112660	0.64402	D	0.000011	T	0.59609	0.2206	L	0.41824	1.3	0.58432	D	0.999995	B;B	0.26672	0.156;0.146	B;B	0.36186	0.139;0.219	T	0.59118	-0.7514	9	0.48119	T	0.1	-14.3162	15.5088	0.75764	0.0:0.0:0.8603:0.1397	.	45;45	O60869-2;O60869	.;EDF1_HUMAN	D	45	.	ENSP00000224073:A45D	A	-	2	0	EDF1	138877718	1.000000	0.71417	0.992000	0.48379	0.780000	0.44128	9.247000	0.95444	1.282000	0.44496	-0.181000	0.13052	GCT		0.542	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055143.1			3	42	1	0	1	1	1	3	42				
SLCO6A1	133482	broad.mit.edu	37	5	101834424	101834424	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr5:101834424G>A	ENST00000506729.1	-	1	296	c.125C>T	c.(124-126)tCg>tTg	p.S42L	SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.S42L|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.S42L|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.S42L|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.S42L			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCCGGGCTTCGAGGACTTCGG	0.577																																						ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(124-126)tCg>tTg		solute carrier organic anion transporter family, member 6A1							125.0	142.0	136.0					5																	101834424		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834424G>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.125C>T	5.37:g.101834424G>A	ENSP00000421339:p.Ser42Leu					SLCO6A1_ENST00000379807.3_Missense_Mutation_p.S42L|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.S42L|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.S42L|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.S42L	p.S42L			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	296	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	42					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.125C>T	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	G	0.692	-0.794056	0.02862	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.47177	0.91;0.91;0.93;0.85;0.85	1.58	-3.17	0.05202	.	28.779800	0.00166	N	0.000000	T	0.26231	0.0640	N	0.14661	0.345	0.09310	N	1	B;B;B	0.31040	0.305;0.13;0.203	B;B;B	0.16722	0.012;0.003;0.016	T	0.15263	-1.0443	10	0.21540	T	0.41	.	5.5293	0.16974	0.0:0.2292:0.4287:0.342	.	42;42;42	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	L	42	ENSP00000421339:S42L;ENSP00000369135:S42L;ENSP00000373671:S42L;ENSP00000421990:S42L;ENSP00000369138:S42L	ENSP00000369135:S42L	S	-	2	0	SLCO6A1	101862323	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.008000	0.00649	-3.279000	0.00197	-1.395000	0.01148	TCG		0.577	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		46	175	0	0	0	1	0	46	175				
FAM47C	442444	broad.mit.edu	37	X	37029041	37029041	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:37029041G>A	ENST00000358047.3	+	1	2610	c.2558G>A	c.(2557-2559)cGt>cAt	p.R853H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	853										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGAAAACTCCGTGACTTCAAG	0.458																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(2557-2559)cGt>cAt		family with sequence similarity 47, member C							113.0	106.0	108.0					X																	37029041		2202	4297	6499	SO:0001583	missense	442444							g.chrX:37029041G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2558G>A	X.37:g.37029041G>A	ENSP00000367913:p.Arg853His						p.R853H	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	2610	+			853					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2558G>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	2.697	-0.271920	0.05716	.	.	ENSG00000198173	ENST00000358047	T	0.42900	0.96	0.217	-0.433	0.12287	.	.	.	.	.	T	0.25195	0.0612	L	0.43152	1.355	0.09310	N	1	B	0.32800	0.385	B	0.25291	0.059	T	0.14337	-1.0476	8	0.41790	T	0.15	.	.	.	.	.	853	Q5HY64	FA47C_HUMAN	H	853	ENSP00000367913:R853H	ENSP00000367913:R853H	R	+	2	0	FAM47C	36938962	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.129000	0.10515	-2.348000	0.00619	-2.371000	0.00235	CGT		0.458	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		10	130	0	0	0	1	0	10	130				
PAPD7	11044	broad.mit.edu	37	5	6738842	6738842	+	Splice_Site	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr5:6738842G>A	ENST00000230859.6	+	3	266	c.137G>A	c.(136-138)aGc>aAc	p.S46N		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	276	Ala-rich.				double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTTCCAACTAGGTGAGTACCA	0.433																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.e3+1		PAP associated domain containing 7							193.0	203.0	199.0					5																	6738842		2203	4300	6503	SO:0001630	splice_region_variant	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6738842G>A	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.137+1G>A	5.37:g.6738842G>A							p.S46_splice	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			3	266	+			46					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Splice_Site	SNP	ENST00000230859.6	37	c.137_splice	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969240	0.92855	.	.	ENSG00000112941	ENST00000230859	T	0.72394	-0.65	4.58	4.58	0.56647	Nucleotidyl transferase domain (1);	0.000000	0.85682	D	0.000000	D	0.89911	0.6852	H	0.98068	4.14	0.80722	D	1	D;D	0.56287	0.975;0.975	D;D	0.67103	0.949;0.949	D	0.94011	0.7284	10	0.87932	D	0	-9.4882	17.7373	0.88397	0.0:0.0:1.0:0.0	.	46;46	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	N	46	ENSP00000230859:S46N	ENSP00000230859:S46N	S	+	2	0	PAPD7	6791842	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	8.772000	0.91757	2.237000	0.73441	0.563000	0.77884	AGC		0.433	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999	Missense_Mutation	30	115	0	0	0	1	0	30	115				
ABCG2	9429	broad.mit.edu	37	4	89060981	89060981	+	Missense_Mutation	SNP	C	C	T	rs543249891		TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr4:89060981C>T	ENST00000237612.3	-	2	712	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	ABCG2_ENST00000515655.1_Missense_Mutation_p.R56Q	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	56	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	AACTGGTTTTCGACAAGGTAG	0.358													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20590	0.0		0.0	False		,,,				2504	0.0					ENST00000237612.3																			0				breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(166-168)cGa>cAa		ATP-binding cassette, sub-family G (WHITE), member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						68.0	64.0	65.0					4																	89060981		2203	4300	6503	SO:0001583	missense	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89060981C>T	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.167G>A	4.37:g.89060981C>T	ENSP00000237612:p.Arg56Gln					ABCG2_ENST00000515655.1_Missense_Mutation_p.R56Q	p.R56Q	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	2	712	-		Hepatocellular(203;0.114)	56			ABC transporter.		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	c.167G>A	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104760	0.37145	.	.	ENSG00000118777	ENST00000515655;ENST00000237612;ENST00000505480;ENST00000503830	D;D;T;T	0.86865	-2.18;-2.05;-0.29;-0.32	5.02	4.18	0.49190	ABC transporter-like (1);	0.289804	0.36932	N	0.002334	T	0.78426	0.4281	L	0.28504	0.86	0.41859	D	0.990213	B;B	0.26363	0.147;0.035	B;B	0.20767	0.031;0.01	T	0.72161	-0.4374	10	0.23302	T	0.38	0.0635	12.1259	0.53917	0.0:0.9154:0.0:0.0846	.	56;56	Q9UNQ0-2;Q9UNQ0	.;ABCG2_HUMAN	Q	56;56;94;74	ENSP00000426917:R56Q;ENSP00000237612:R56Q;ENSP00000426916:R94Q;ENSP00000426934:R74Q	ENSP00000237612:R56Q	R	-	2	0	ABCG2	89280005	0.145000	0.22656	0.492000	0.27490	0.585000	0.36419	0.655000	0.24933	1.099000	0.41499	0.655000	0.94253	CGA		0.358	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		6	23	0	0	0	1	0	6	23				
F8	2157	broad.mit.edu	37	X	154132781	154132781	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:154132781C>A	ENST00000360256.4	-	17	5805	c.5605G>T	c.(5605-5607)Ggc>Tgc	p.G1869C		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1869	F5/8 type A 3.|Plastocyanin-like 5.		G -> D (in HEMA; severe). {ECO:0000269|PubMed:11857744}.|G -> V (in HEMA; severe). {ECO:0000269|PubMed:10612839, ECO:0000269|PubMed:12614369}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCAATCAGGCCTGAGTGCACA	0.453																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(5605-5607)Ggc>Tgc		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						147.0	121.0	130.0					X																	154132781		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154132781C>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5605G>T	X.37:g.154132781C>A	ENSP00000353393:p.Gly1869Cys						p.G1869C	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			17	5805	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1869		G -> D (in HEMA; severe).|G -> V (in HEMA; severe).	F5/8 type A 3.|Plastocyanin-like 5.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.5605G>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154935	0.57259	.	.	ENSG00000185010	ENST00000360256	D	0.99962	-9.48	4.51	3.62	0.41486	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99964	0.9986	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95553	0.8622	10	0.87932	D	0	-14.0611	12.9095	0.58173	0.0:0.8385:0.1615:0.0	.	1869	P00451	FA8_HUMAN	C	1869	ENSP00000353393:G1869C	ENSP00000353393:G1869C	G	-	1	0	F8	153785975	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.340000	0.79292	0.964000	0.38108	0.523000	0.50628	GGC		0.453	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			4	105	1	0	0.150653	1	0.152936	4	105				
OR4C15	81309	broad.mit.edu	37	11	55322005	55322005	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr11:55322005G>A	ENST00000314644.2	+	1	223	c.223G>A	c.(223-225)Gtt>Att	p.V75I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GAATCCAAATGTTCAGGAAAT	0.408										HNSCC(20;0.049)																												ENST00000314644.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						c.(223-225)Gtt>Att		olfactory receptor, family 4, subfamily C, member 15							122.0	123.0	122.0					11																	55322005		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322005G>A	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.223G>A	11.37:g.55322005G>A	ENSP00000324958:p.Val75Ile	HNSCC(20;0.049)					p.V75I	NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN			1	223	+			21					Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.223G>A	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	G	6.697	0.497152	0.12762	.	.	ENSG00000181939	ENST00000314644	T	0.01359	4.98	5.12	-1.63	0.08345	.	.	.	.	.	T	0.01124	0.0037	N	0.25789	0.76	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.46456	-0.9190	9	0.29301	T	0.29	.	4.7506	0.13059	0.5251:0.0:0.3195:0.1554	.	21	Q8NGM1	OR4CF_HUMAN	I	75	ENSP00000324958:V75I	ENSP00000324958:V75I	V	+	1	0	OR4C15	55078581	0.000000	0.05858	0.001000	0.08648	0.411000	0.31082	-4.686000	0.00198	-0.141000	0.11374	0.385000	0.25706	GTT		0.408	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		6	128	0	0	0	1	0	6	128				
IFNA14	3448	broad.mit.edu	37	9	21239548	21239548	+	Silent	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr9:21239548C>T	ENST00000380222.2	-	1	430	c.387G>A	c.(385-387)gtG>gtA	p.V129V		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	129					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAGTCTCTTCCACCCCAACCT	0.453																																						ENST00000380222.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11						c.(385-387)gtG>gtA		interferon, alpha 14							180.0	184.0	183.0					9																	21239548		2203	4300	6503	SO:0001819	synonymous_variant	3448				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21239548C>T		CCDS6501.1	9p22	2010-08-24			ENSG00000228083	ENSG00000228083		"""Interferons"""	5420	protein-coding gene	gene with protein product		147579				1385305	Standard	NM_002172		Approved	LEIF2H, IFN-alphaH	uc010mis.3	P01570	OTTHUMG00000019665	ENST00000380222.2:c.387G>A	9.37:g.21239548C>T							p.V129V	NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	430	-			129					Q5VZ56|Q7M4S1	Silent	SNP	ENST00000380222.2	37	c.387G>A	CCDS6501.1																																																																																				0.453	IFNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051894.1	NM_002172		87	179	0	0	0	1	0	87	179				
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	C	rs587780070		TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr17:7578395G>C	ENST00000269305.4	-	5	724	c.535C>G	c.(535-537)Cat>Gat	p.H179D	TP53_ENST00000359597.4_Missense_Mutation_p.H179D|TP53_ENST00000413465.2_Missense_Mutation_p.H179D|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.H179D|TP53_ENST00000445888.2_Missense_Mutation_p.H179D|TP53_ENST00000455263.2_Missense_Mutation_p.H179D	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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(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.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(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)	CAGCGCTCATGGTGGGGGCAG	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"""		197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(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.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(1)|prostate(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	CM067054	TP53	M		c.(535-537)Cat>Gat	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578395		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.chr17:7578395G>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.535C>G	17.37:g.7578395G>C	ENSP00000269305:p.His179Asp	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_ENST00000445888.2_Missense_Mutation_p.H179D|TP53_ENST00000455263.2_Missense_Mutation_p.H179D|TP53_ENST00000269305.4_Missense_Mutation_p.H179D|TP53_ENST00000413465.2_Missense_Mutation_p.H179D|TP53_ENST00000359597.4_Missense_Mutation_p.H179D|TP53_ENST00000574684.1_5'UTR	p.H179D	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	667	-		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.535C>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013188	0.93346	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99907	-7.78;-7.78;-7.78;-7.78;-7.78;-7.78;-7.78;-7.78	5.59	5.59	0.84812	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	0.99904	0.9954	M	0.83118	2.625	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.97;1.0;0.993;1.0;0.994;1.0;0.998	D;D;D;D;D;D;D	0.97110	0.955;0.998;0.972;1.0;0.991;0.998;0.98	D	0.96140	0.9099	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	D	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179D;ENSP00000352610:H179D;ENSP00000269305:H179D;ENSP00000398846:H179D;ENSP00000391127:H179D;ENSP00000391478:H179D;ENSP00000425104:H47D;ENSP00000423862:H86D	ENSP00000269305:H179D	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		46	25	0	0	0	1	0	46	25				
ARHGEF6	9459	broad.mit.edu	37	X	135750295	135750295	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:135750295C>T	ENST00000250617.6	-	22	3429	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K	ARHGEF6_ENST00000535227.1_Missense_Mutation_p.E615K|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.E588K|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.E588K	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	742					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GATTTCAGTTCTTCTTCCAGG	0.458																																						ENST00000250617.6																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(2224-2226)Gaa>Aaa		Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6							241.0	196.0	212.0					X																	135750295		2203	4300	6503	SO:0001583	missense	9459				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135750295C>T	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.2224G>A	X.37:g.135750295C>T	ENSP00000250617:p.Glu742Lys					ARHGEF6_ENST00000535227.1_Missense_Mutation_p.E615K|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.E588K|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.E588K	p.E742K	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN			22	3429	-	Acute lymphoblastic leukemia(192;0.000127)		742					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.2224G>A	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586511	0.86851	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.80824	-1.21;-1.02;-1.02;-1.42	5.49	5.49	0.81192	.	0.097992	0.64402	D	0.000001	D	0.84329	0.5448	M	0.80746	2.51	0.80722	D	1	B;B	0.31790	0.265;0.34	B;B	0.37480	0.2;0.251	D	0.85369	0.1112	10	0.87932	D	0	.	17.267	0.87089	0.0:1.0:0.0:0.0	.	615;742	B7Z3C7;Q15052	.;ARHG6_HUMAN	K	742;588;588;588;615	ENSP00000250617:E742K;ENSP00000359654:E588K;ENSP00000359656:E588K;ENSP00000439483:E615K	ENSP00000250617:E742K	E	-	1	0	ARHGEF6	135577961	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	7.063000	0.76714	2.288000	0.76882	0.513000	0.50165	GAA		0.458	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		5	118	0	0	0	1	0	5	118				
SLCO1B3	28234	broad.mit.edu	37	12	21054391	21054391	+	Missense_Mutation	SNP	G	G	A	rs202234562	byFrequency	TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr12:21054391G>A	ENST00000381545.3	+	15	2074	c.1855G>A	c.(1855-1857)Gta>Ata	p.V619I	LST3_ENST00000540229.1_Missense_Mutation_p.V619I|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.V619I|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.V619I|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	619					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	ATATAATTCCGTATTTTTTGG	0.338													G|||	3	0.000599042	0.0015	0.0	5008	,	,		17497	0.0		0.001	False		,,,				2504	0.0					ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(1855-1857)Gta>Ata		solute carrier organic anion transporter family, member 1B3		G	ILE/VAL	1,4405		0,1,2202	152.0	148.0	149.0		1855	-9.1	0.0	12		149	3,8597		0,3,4297	yes	missense	SLCO1B3	NM_019844.2	29	0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308	benign	619/703	21054391	4,13002	2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21054391G>A		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1855G>A	12.37:g.21054391G>A	ENSP00000370956:p.Val619Ile					LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.V619I|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.V619I|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.V619I	p.V619I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			15	2074	+	Esophageal squamous(101;0.149)		619					E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.1855G>A	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	8.849	0.944058	0.18281	2.27E-4	3.49E-4	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T	0.80393	1.11;1.11;-1.37;1.11;-1.37	4.53	-9.07	0.00724	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.209180	0.01756	N	0.030248	T	0.58850	0.2151	N	0.12182	0.205	0.09310	N	1	B;B;B	0.25904	0.137;0.001;0.001	B;B;B	0.12837	0.008;0.007;0.007	T	0.50591	-0.8810	10	0.35671	T	0.21	.	6.9253	0.24412	0.2664:0.0:0.5158:0.2178	.	619;619;619	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	I	619;619;619;443;619	ENSP00000261196:V619I;ENSP00000370956:V619I;ENSP00000451758:V619I;ENSP00000443225:V443I;ENSP00000441269:V619I	ENSP00000441269:V619I	V	+	1	0	SLCO1B3;RP11-545J16.1	20945658	0.000000	0.05858	0.000000	0.03702	0.252000	0.25951	-0.899000	0.04101	-1.581000	0.01642	-0.657000	0.03884	GTA		0.338	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		5	80	0	0	0	1	0	5	80				
TCIRG1	10312	broad.mit.edu	37	11	67816592	67816592	+	Missense_Mutation	SNP	A	A	G	rs576389893	byFrequency	TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr11:67816592A>G	ENST00000265686.3	+	15	1826	c.1718A>G	c.(1717-1719)gAg>gGg	p.E573G	RP11-802E16.3_ENST00000526897.1_RNA|TCIRG1_ENST00000532635.1_Missense_Mutation_p.E357G|RP11-802E16.3_ENST00000529934.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	573					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						ACGCTGCCGGAGCTCACCTTC	0.662													A|||	5	0.000998403	0.0	0.0	5008	,	,		15878	0.0		0.001	False		,,,				2504	0.0041					ENST00000265686.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						c.(1717-1719)gAg>gGg		T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3							103.0	94.0	97.0					11																	67816592		2200	4294	6494	SO:0001583	missense	10312				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67816592A>G	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.1718A>G	11.37:g.67816592A>G	ENSP00000265686:p.Glu573Gly					TCIRG1_ENST00000532635.1_Missense_Mutation_p.E357G	p.E573G	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN			15	1826	+			573					O75877|Q8WVC5	Missense_Mutation	SNP	ENST00000265686.3	37	c.1718A>G	CCDS8177.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.693773	0.88735	.	.	ENSG00000110719	ENST00000265686;ENST00000532635	D;D	0.85773	-2.03;-2.03	4.53	4.53	0.55603	.	0.054616	0.64402	D	0.000001	D	0.87261	0.6133	L	0.37850	1.14	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.85299	0.1072	10	0.29301	T	0.29	-23.7346	12.8543	0.57876	1.0:0.0:0.0:0.0	.	573	Q13488	VPP3_HUMAN	G	573;357	ENSP00000265686:E573G;ENSP00000434407:E357G	ENSP00000265686:E573G	E	+	2	0	TCIRG1	67573168	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	9.041000	0.93788	1.904000	0.55121	0.454000	0.30748	GAG		0.662	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019		10	171	0	0	0	1	0	10	171				
DPPA3P2	400206	broad.mit.edu	37	14	36841171	36841171	+	RNA	SNP	A	A	G			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr14:36841171A>G	ENST00000557188.1	+	0	802									developmental pluripotency associated 3 pseudogene 2																		CTATGCTAGTATAGACTATAC	0.323																																						ENST00000557188.1																			0																																																			0							g.chr14:36841171A>G			14q13.3	2012-07-04			ENSG00000188831	ENSG00000188831			20417	pseudogene	pseudogene							Standard	NG_023379		Approved	STELLAR			OTTHUMG00000170728		14.37:g.36841171A>G														0	802	+									RNA	SNP	ENST00000557188.1	37																																																																																						0.323	DPPA3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000410122.1			4	20	0	0	0	1	0	4	20				
RERE	473	broad.mit.edu	37	1	8424286	8424286	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr1:8424286C>T	ENST00000337907.3	-	16	2204	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K	RERE_ENST00000377464.1_Missense_Mutation_p.E256K|RERE_ENST00000460659.1_5'Flank|RERE_ENST00000400908.2_Missense_Mutation_p.E524K|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	524					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGGATGTTCTCCCGGCCTCCG	0.592																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1570-1572)Gag>Aag		arginine-glutamic acid dipeptide (RE) repeats							86.0	93.0	90.0					1																	8424286		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8424286C>T	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1570G>A	1.37:g.8424286C>T	ENSP00000338629:p.Glu524Lys					RERE_ENST00000377464.1_Missense_Mutation_p.E256K|RERE_ENST00000400908.2_Missense_Mutation_p.E524K|RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400907.2_Intron	p.E524K	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	16	2204	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	524					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.1570G>A	CCDS95.1	.	.	.	.	.	.	.	.	.	.	C	36	5.739648	0.96873	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000400908	D;D;D	0.99462	-5.94;-5.94;-5.94	5.2	5.2	0.72013	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (2);	.	.	.	.	D	0.98969	0.9649	L	0.34521	1.04	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.67103	0.949;0.949	D	0.98991	1.0808	9	0.24483	T	0.36	-24.7531	17.9071	0.88921	0.0:1.0:0.0:0.0	.	256;524	B1AKN3;Q9P2R6	.;RERE_HUMAN	K	524;256;524	ENSP00000338629:E524K;ENSP00000366684:E256K;ENSP00000383700:E524K	ENSP00000338629:E524K	E	-	1	0	RERE	8346873	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.313000	0.78978	2.711000	0.92665	0.561000	0.74099	GAG		0.592	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			6	111	0	0	0	1	0	6	111				
CSHL1	1444	broad.mit.edu	37	17	61988150	61988150	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr17:61988150G>C	ENST00000309894.5	-	2	144	c.145C>G	c.(145-147)Ctg>Gtg	p.L49V	CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000392824.4_Missense_Mutation_p.L49V|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000450719.3_Intron	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	49						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						TCAATGGCCAGCTGGTGTGCG	0.572																																						ENST00000392824.4																			0				endometrium(3)|lung(6)	9						c.(145-147)Ctg>Gtg		chorionic somatomammotropin hormone-like 1							100.0	106.0	104.0					17																	61988150		2203	4300	6503	SO:0001583	missense	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61988150G>C	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.145C>G	17.37:g.61988150G>C	ENSP00000309524:p.Leu49Val					CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000309894.5_Missense_Mutation_p.L49V|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000561003.1_Intron	p.L49V			Q14406	CSHL_HUMAN			2	206	-			49					D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	ENST00000309894.5	37	c.145C>G	CCDS11652.1	.	.	.	.	.	.	.	.	.	.	g	9.921	1.212196	0.22289	.	.	ENSG00000204414	ENST00000309894;ENST00000259003;ENST00000450719;ENST00000392824	D;D;D	0.92299	-3.01;-2.64;-2.73	2.84	1.84	0.25277	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.074386	0.56097	D	0.000031	D	0.93197	0.7833	L	0.60845	1.875	0.36101	D	0.844112	D;B;D	0.71674	0.979;0.442;0.998	D;B;D	0.85130	0.982;0.343;0.997	D	0.92039	0.5639	10	0.56958	D	0.05	.	5.6291	0.17499	0.1614:0.0:0.8386:0.0	.	49;49;49	B7Z6E9;Q14406;Q14406-2	.;CSHL_HUMAN;.	V	49	ENSP00000309524:L49V;ENSP00000259003:L49V;ENSP00000376569:L49V	ENSP00000259003:L49V	L	-	1	2	GH1	59341882	1.000000	0.71417	0.986000	0.45419	0.010000	0.07245	3.155000	0.50700	0.512000	0.28257	0.305000	0.20034	CTG		0.572	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		79	129	0	0	0	1	0	79	129				
FLVCR1	28982	broad.mit.edu	37	1	213032327	213032327	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr1:213032327T>A	ENST00000366971.4	+	1	731	c.533T>A	c.(532-534)cTg>cAg	p.L178Q	FLVCR1-AS1_ENST00000356684.3_lincRNA	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	178					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CTCACCGCCCTGCTGGGCTCC	0.642																																					Esophageal Squamous(199;2235 2952 19233 26256)	ENST00000366971.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12						c.(532-534)cTg>cAg		feline leukemia virus subgroup C cellular receptor 1							57.0	54.0	55.0					1																	213032327		2203	4300	6503	SO:0001583	missense	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213032327T>A	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.533T>A	1.37:g.213032327T>A	ENSP00000355938:p.Leu178Gln						p.L178Q	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	1	731	+			178					Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	ENST00000366971.4	37	c.533T>A	CCDS1510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	31|31	5.090386|5.090386	0.94149|0.94149	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000419102|ENST00000366971	.|T	.|0.61742	.|0.08	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.134270	.|0.51477	.|D	.|0.000089	T|T	0.80154|0.80154	0.4571|0.4571	M|M	0.90814|0.90814	3.15|3.15	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.83275	.|0.996	D|D	0.84034|0.84034	0.0361|0.0361	5|10	.|0.59425	.|D	.|0.04	-18.1225|-18.1225	14.7855|14.7855	0.69800|0.69800	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|178	.|Q9Y5Y0	.|FLVC1_HUMAN	S|Q	24|178	.|ENSP00000355938:L178Q	.|ENSP00000355938:L178Q	C|L	+|+	1|2	0|0	FLVCR1|FLVCR1	211098950|211098950	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.953000|0.953000	0.61014|0.61014	7.494000|7.494000	0.81503|0.81503	2.087000|2.087000	0.62958|0.62958	0.533000|0.533000	0.62120|0.62120	TGC|CTG		0.642	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053		26	56	0	0	0	1	0	26	56				
NLRP11	204801	broad.mit.edu	37	19	56303709	56303709	+	Missense_Mutation	SNP	G	G	A	rs374529395		TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr19:56303709G>A	ENST00000589093.1	-	7	2564	c.2471C>T	c.(2470-2472)aCg>aTg	p.T824M	NLRP11_ENST00000443188.1_Missense_Mutation_p.T824M|NLRP11_ENST00000589824.2_Missense_Mutation_p.T770M|NLRP11_ENST00000592953.1_Missense_Mutation_p.T725M|NLRP11_ENST00000360133.3_Missense_Mutation_p.T770M			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	824							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.T824M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAAGGGAAACGTCACATGCAA	0.488																																						ENST00000443188.1																			1	Substitution - Missense(1)	p.T824M(1)	ovary(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.(2470-2472)aCg>aTg		NLR family, pyrin domain containing 11		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	200.0	176.0	184.0		2471	-4.4	0.0	19		184	0,8600		0,0,4300	no	missense	NLRP11	NM_145007.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	824/1034	56303709	1,13005	2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56303709G>A	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2471C>T	19.37:g.56303709G>A	ENSP00000466285:p.Thr824Met					NLRP11_ENST00000592953.1_Missense_Mutation_p.T725M|NLRP11_ENST00000360133.3_Missense_Mutation_p.T770M|NLRP11_ENST00000589824.2_Missense_Mutation_p.T770M|NLRP11_ENST00000589093.1_Missense_Mutation_p.T824M	p.T824M	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	9	3181	-		Colorectal(82;0.0002)	824					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.2471C>T	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	G	4.126	0.021719	0.08006	2.27E-4	0.0	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.53640	0.61;0.61	2.18	-4.36	0.03645	.	.	.	.	.	T	0.31327	0.0793	L	0.43152	1.355	0.09310	N	1	P;P	0.42993	0.695;0.797	B;B	0.37601	0.129;0.254	T	0.13926	-1.0491	9	0.72032	D	0.01	.	4.3745	0.11263	0.4516:0.3414:0.207:0.0	.	824;770	P59045;P59045-2	NAL11_HUMAN;.	M	824;770	ENSP00000409898:T824M;ENSP00000353251:T770M	ENSP00000353251:T770M	T	-	2	0	NLRP11	60995521	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.565000	0.05929	-1.536000	0.01738	-0.909000	0.02823	ACG		0.488	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		4	113	0	0	0	1	0	4	113				
AGRP	181	broad.mit.edu	37	16	67517001	67517001	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr16:67517001C>A	ENST00000290953.2	-	3	442	c.143G>T	c.(142-144)cGg>cTg	p.R48L	RP11-297D21.4_ENST00000602596.1_RNA|ATP6V0D1_ENST00000540149.1_5'Flank|ATP6V0D1_ENST00000290949.3_5'Flank	NM_001138.1	NP_001129.1	O00253	AGRP_HUMAN	agouti related neuropeptide	48					adult feeding behavior (GO:0008343)|eating behavior (GO:0042755)|feeding behavior (GO:0007631)|hormone-mediated signaling pathway (GO:0009755)|maternal process involved in female pregnancy (GO:0060135)|neuropeptide signaling pathway (GO:0007218)|photoperiodism (GO:0009648)|positive regulation of feeding behavior (GO:2000253)|regulation of feeding behavior (GO:0060259)|response to insulin (GO:0032868)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|neuronal cell body (GO:0043025)	neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			endometrium(1)	1		Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16)		CAGTGGGGCCCGCAGGCCCAG	0.592																																						ENST00000290953.2																			0				endometrium(1)	1						c.(142-144)cGg>cTg		agouti related protein homolog (mouse)							61.0	66.0	65.0					16																	67517001		2198	4300	6498	SO:0001583	missense	181				hormone-mediated signaling pathway|neuropeptide signaling pathway|regulation of feeding behavior	extracellular space|Golgi lumen	neuropeptide hormone activity	g.chr16:67517001C>A	U88063	CCDS10839.1	16q22	2014-07-15	2014-07-15		ENSG00000159723	ENSG00000159723		"""Endogenous ligands"""	330	protein-coding gene	gene with protein product		602311	"""agouti (mouse) related protein"", ""agouti related protein homolog (mouse)"""			9119224, 9311920	Standard	NM_001138		Approved	Agrt, ART, ASIP2	uc002etg.1	O00253	OTTHUMG00000137509	ENST00000290953.2:c.143G>T	16.37:g.67517001C>A	ENSP00000290953:p.Arg48Leu					RP11-297D21.4_ENST00000602596.1_RNA	p.R48L	NM_001138.1	NP_001129.1	O00253	AGRP_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16)	3	442	-		Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563)	48					O15459|Q2TBD9	Missense_Mutation	SNP	ENST00000290953.2	37	c.143G>T	CCDS10839.1	.	.	.	.	.	.	.	.	.	.	C	9.390	1.075255	0.20227	.	.	ENSG00000159723	ENST00000290953	T	0.30182	1.54	5.49	-11.0	0.00169	.	3.694360	0.00447	N	0.000085	T	0.18087	0.0434	N	0.19112	0.55	0.09310	N	1	B	0.24963	0.115	B	0.23716	0.048	T	0.20273	-1.0280	10	0.46703	T	0.11	.	10.0308	0.42099	0.0:0.4084:0.3338:0.2578	.	48	O00253	AGRP_HUMAN	L	48	ENSP00000290953:R48L	ENSP00000290953:R48L	R	-	2	0	AGRP	66074502	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.021000	0.03615	-3.748000	0.00112	-2.435000	0.00213	CGG		0.592	AGRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268828.1			4	99	1	0	0.0215528	1	0.022563	4	99				
OR10G3	26533	broad.mit.edu	37	14	22038354	22038354	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr14:22038354C>A	ENST00000303532.1	-	1	521	c.522G>T	c.(520-522)caG>caT	p.Q174H		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		AGTAATCCACCTGATTGGGCC	0.572																																						ENST00000303532.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15						c.(520-522)caG>caT		olfactory receptor, family 10, subfamily G, member 3							167.0	156.0	159.0					14																	22038354		2203	4300	6503	SO:0001583	missense	26533				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22038354C>A		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"""GPCR / Class A : Olfactory receptors"""	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.522G>T	14.37:g.22038354C>A	ENSP00000302437:p.Gln174His						p.Q174H	NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN		GBM - Glioblastoma multiforme(265;0.0139)	1	521	-	all_cancers(95;0.000987)		174					Q6IET7|Q96R77	Missense_Mutation	SNP	ENST00000303532.1	37	c.522G>T	CCDS32046.1	.	.	.	.	.	.	.	.	.	.	C	6.919	0.539183	0.13250	.	.	ENSG00000169208	ENST00000303532	T	0.00107	8.72	4.59	-0.759	0.11045	GPCR, rhodopsin-like superfamily (1);	0.133015	0.34133	N	0.004222	T	0.00073	0.0002	N	0.20881	0.62	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.45745	-0.9240	10	0.54805	T	0.06	-9.6543	1.0613	0.01601	0.1528:0.3091:0.1497:0.3884	.	174	Q8NGC4	O10G3_HUMAN	H	174	ENSP00000302437:Q174H	ENSP00000302437:Q174H	Q	-	3	2	OR10G3	21108194	0.000000	0.05858	0.985000	0.45067	0.911000	0.54048	-3.082000	0.00613	-0.251000	0.09542	-0.234000	0.12200	CAG		0.572	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			4	196	1	0	2.56e-06	1	2.85867e-06	4	196				
OR52N1	79473	broad.mit.edu	37	11	5809859	5809859	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr11:5809859A>T	ENST00000317078.1	-	1	187	c.188T>A	c.(187-189)gTc>gAc	p.V63D	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGCAAGGAAGACATACATAGG	0.448																																						ENST00000317078.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31						c.(187-189)gTc>gAc		olfactory receptor, family 52, subfamily N, member 1							153.0	129.0	137.0					11																	5809859		2201	4296	6497	SO:0001583	missense	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809859A>T	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.188T>A	11.37:g.5809859A>T	ENSP00000322823:p.Val63Asp					TRIM5_ENST00000380027.1_Intron	p.V63D	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	187	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	63					Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	c.188T>A	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.367757	0.24771	.	.	ENSG00000181001	ENST00000317078	T	0.03301	3.98	4.59	0.78	0.18556	GPCR, rhodopsin-like superfamily (1);	0.443402	0.19271	N	0.118416	T	0.03871	0.0109	L	0.47716	1.5	0.32173	N	0.581359	B	0.09022	0.002	B	0.06405	0.002	T	0.10451	-1.0629	10	0.87932	D	0	.	5.9752	0.19375	0.586:0.0:0.0744:0.3396	.	63	Q8NH53	O52N1_HUMAN	D	63	ENSP00000322823:V63D	ENSP00000322823:V63D	V	-	2	0	OR52N1	5766435	0.000000	0.05858	0.811000	0.32455	0.867000	0.49689	-1.432000	0.02430	-0.206000	0.10203	-1.186000	0.01703	GTC		0.448	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		17	50	0	0	0	1	0	17	50				
AP1B1	162	broad.mit.edu	37	22	29727519	29727519	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr22:29727519C>G	ENST00000405198.1	-	18	2474	c.2443G>C	c.(2443-2445)Gcc>Ccc	p.A815P	AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000402502.1_Missense_Mutation_p.A808P|AP1B1_ENST00000357586.2_Missense_Mutation_p.A815P|AP1B1_ENST00000415447.1_Missense_Mutation_p.A808P|SNORD125_ENST00000459538.1_RNA|AP1B1_ENST00000356015.2_Missense_Mutation_p.A808P|AP1B1_ENST00000432560.2_Missense_Mutation_p.A808P|AP1B1_ENST00000317368.7_Missense_Mutation_p.A788P			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	815					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTCTTCACGGCCACCTAGGCA	0.577																																						ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(2443-2445)Gcc>Ccc		adaptor-related protein complex 1, beta 1 subunit							128.0	121.0	123.0					22																	29727519		2203	4300	6503	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29727519C>G	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2443G>C	22.37:g.29727519C>G	ENSP00000384194:p.Ala815Pro					AP1B1_ENST00000356015.2_Missense_Mutation_p.A808P|AP1B1_ENST00000432560.2_Missense_Mutation_p.A808P|AP1B1_ENST00000415447.1_Missense_Mutation_p.A808P|AP1B1_ENST00000317368.7_Missense_Mutation_p.A788P|AP1B1_ENST00000402502.1_Missense_Mutation_p.A808P|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000405198.1_Missense_Mutation_p.A815P	p.A815P	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			19	2629	-			815					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.2443G>C	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103402	0.76983	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447	T;T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	4.37	4.37	0.52481	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);Clathrin adaptor, beta-adaptin, appendage, Ig-like subdomain (1);	0.048772	0.85682	D	0.000000	D	0.87985	0.6316	M	0.94021	3.485	0.80722	D	1	D;D;D;D;P;D	0.89917	1.0;0.993;0.993;0.994;0.935;1.0	D;D;P;D;P;D	0.83275	0.99;0.926;0.901;0.956;0.716;0.996	D	0.91558	0.5262	10	0.87932	D	0	-5.7229	16.6837	0.85299	0.0:1.0:0.0:0.0	.	368;788;808;815;808;12	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3;Q7Z3M8	.;.;.;AP1B1_HUMAN;.;.	P	815;808;808;815;788;808;808	ENSP00000350199:A815P;ENSP00000348297:A808P;ENSP00000400065:A808P;ENSP00000384194:A815P;ENSP00000319361:A788P;ENSP00000386071:A808P;ENSP00000387612:A808P	ENSP00000319361:A788P	A	-	1	0	AP1B1	28057519	1.000000	0.71417	0.997000	0.53966	0.232000	0.25224	7.598000	0.82745	2.258000	0.74832	0.455000	0.32223	GCC		0.577	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		10	155	0	0	0	1	0	10	155				
BCOR	54880	broad.mit.edu	37	X	39933903	39933903	+	Silent	SNP	C	C	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:39933903C>A	ENST00000378444.4	-	4	924	c.696G>T	c.(694-696)ccG>ccT	p.P232P	BCOR_ENST00000397354.3_Silent_p.P232P|BCOR_ENST00000342274.4_Silent_p.P232P|BCOR_ENST00000378455.4_Silent_p.P232P	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	232					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GAGAATACAGCGGCTGGGCCA	0.562			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															ENST00000342274.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(694-696)ccG>ccT		BCL6 corepressor							87.0	63.0	71.0					X																	39933903		2202	4300	6502	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39933903C>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.696G>T	X.37:g.39933903C>A						BCOR_ENST00000378455.4_Silent_p.P232P|BCOR_ENST00000397354.3_Silent_p.P232P|BCOR_ENST00000378444.4_Silent_p.P232P	p.P232P	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN			4	1058	-			232					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.696G>T	CCDS48093.1																																																																																				0.562	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		4	79	1	0	0.000602214	1	0.00064045	4	79				
F8	2157	broad.mit.edu	37	X	154132780	154132780	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:154132780C>A	ENST00000360256.4	-	17	5806	c.5606G>T	c.(5605-5607)gGc>gTc	p.G1869V		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1869	F5/8 type A 3.|Plastocyanin-like 5.		G -> D (in HEMA; severe). {ECO:0000269|PubMed:11857744}.|G -> V (in HEMA; severe). {ECO:0000269|PubMed:10612839, ECO:0000269|PubMed:12614369}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCAATCAGGCCTGAGTGCAC	0.448																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM020428|CM980705	F8	M		c.(5605-5607)gGc>gTc		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						149.0	123.0	132.0					X																	154132780		2203	4300	6503	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154132780C>A	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5606G>T	X.37:g.154132780C>A	ENSP00000353393:p.Gly1869Val						p.G1869V	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			17	5806	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1869		G -> D (in HEMA; severe).|G -> V (in HEMA; severe).	F5/8 type A 3.|Plastocyanin-like 5.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.5606G>T	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589344	0.66105	.	.	ENSG00000185010	ENST00000360256	D	0.99962	-9.48	4.51	4.51	0.55191	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.99967	0.9988	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95594	0.8657	10	0.87932	D	0	-14.0611	15.6443	0.77036	0.0:1.0:0.0:0.0	.	1869	P00451	FA8_HUMAN	V	1869	ENSP00000353393:G1869V	ENSP00000353393:G1869V	G	-	2	0	F8	153785974	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.340000	0.79292	2.187000	0.69744	0.523000	0.50628	GGC		0.448	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			4	106	1	0	0.150653	1	0.152936	4	106				
ITGB2	3689	broad.mit.edu	37	21	46326937	46326937	+	Missense_Mutation	SNP	G	G	A	rs201354221		TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr21:46326937G>A	ENST00000397850.2	-	5	673	c.221C>T	c.(220-222)gCg>gTg	p.A74V	ITGB2_ENST00000397857.1_Missense_Mutation_p.A74V|ITGB2_ENST00000397854.3_Missense_Mutation_p.A74V|ITGB2_ENST00000302347.5_Missense_Mutation_p.A74V|ITGB2_ENST00000355153.4_Missense_Mutation_p.A74V|ITGB2_ENST00000397852.1_Missense_Mutation_p.A74V|ITGB2_ENST00000523126.1_5'Flank			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	74					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GTCGTCAGCCGCACAGCCCCT	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16070	0.0		0.0	False		,,,				2504	0.0					ENST00000397850.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(220-222)gCg>gTg		integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	Simvastatin(DB00641)						93.0	87.0	89.0					21																	46326937		2203	4300	6503	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46326937G>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.221C>T	21.37:g.46326937G>A	ENSP00000380948:p.Ala74Val					ITGB2_ENST00000397852.1_Missense_Mutation_p.A74V|ITGB2_ENST00000397857.1_Missense_Mutation_p.A74V|ITGB2_ENST00000355153.4_Missense_Mutation_p.A74V|ITGB2_ENST00000397854.3_Missense_Mutation_p.A74V|ITGB2_ENST00000302347.5_Missense_Mutation_p.A74V	p.A74V			P05107	ITB2_HUMAN		Colorectal(79;0.0669)	5	673	-			74					B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.221C>T	CCDS13716.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.738	0.700591	0.15106	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000545414;ENST00000320216;ENST00000523663;ENST00000522931;ENST00000517563;ENST00000522688;ENST00000524251	D;D;D;D;D;D;D;D;D;D;D;D	0.92805	-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11;-3.11	4.66	-4.16	0.03869	Integrin beta subunit, N-terminal (2);	.	.	.	.	D	0.86908	0.6046	M	0.70595	2.14	0.09310	N	1	B;B	0.19445	0.036;0.024	B;B	0.11329	0.003;0.006	T	0.73148	-0.4074	9	0.42905	T	0.14	.	1.2441	0.01969	0.2322:0.1111:0.2097:0.447	.	74;74	A8MYE6;P05107	.;ITB2_HUMAN	V	74;74;74;74;74;74;74;65;74;74;74;5;5	ENSP00000380950:A74V;ENSP00000380955:A74V;ENSP00000380952:A74V;ENSP00000347279:A74V;ENSP00000380948:A74V;ENSP00000303242:A74V;ENSP00000317697:A65V;ENSP00000428503:A74V;ENSP00000428979:A74V;ENSP00000428413:A74V;ENSP00000428125:A5V;ENSP00000430901:A5V	ENSP00000303242:A74V	A	-	2	0	ITGB2	45151365	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.385000	0.07379	-0.662000	0.05338	-0.416000	0.06073	GCG		0.617	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		4	127	0	0	0	1	0	4	127				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			26	42	0	0	0	1	0	26	42				
SLITRK2	84631	broad.mit.edu	37	X	144905825	144905825	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:144905825G>T	ENST00000370490.1	+	1	6137	c.1882G>T	c.(1882-1884)Gtt>Ttt	p.V628F	SLITRK2_ENST00000428560.2_Missense_Mutation_p.V628F|SLITRK2_ENST00000434188.2_Missense_Mutation_p.V628F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.V628F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.V628F			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	628					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.V628L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGCTTGTTGTTTTCATCTT	0.453																																						ENST00000370490.1																			1	Substitution - Missense(1)	p.V628L(1)	stomach(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(1882-1884)Gtt>Ttt		SLIT and NTRK-like family, member 2							116.0	86.0	96.0					X																	144905825		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144905825G>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1882G>T	X.37:g.144905825G>T	ENSP00000359521:p.Val628Phe					SLITRK2_ENST00000434188.2_Missense_Mutation_p.V628F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.V628F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V628F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.V628F	p.V628F			Q9H156	SLIK2_HUMAN			1	6137	+	Acute lymphoblastic leukemia(192;6.56e-05)		628					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.1882G>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173194	0.78452	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.59502	0.35;0.26;0.26;0.26;0.26;0.26	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.66602	0.945	T	0.68473	-0.5399	10	0.87932	D	0	-8.7499	15.922	0.79583	0.0:0.0:1.0:0.0	.	628	Q9H156	SLIK2_HUMAN	F	628	ENSP00000334374:V628F;ENSP00000411681:V628F;ENSP00000359521:V628F;ENSP00000397015:V628F;ENSP00000407347:V628F;ENSP00000412010:V628F	ENSP00000334374:V628F	V	+	1	0	SLITRK2	144713517	1.000000	0.71417	0.923000	0.36655	0.985000	0.73830	7.912000	0.87465	2.358000	0.79984	0.600000	0.82982	GTT		0.453	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		6	94	1	0	3.59834e-05	1	3.95227e-05	6	94				
PIK3CB	5291	broad.mit.edu	37	3	138474713	138474713	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr3:138474713C>G	ENST00000477593.1	-	3	353	c.280G>C	c.(280-282)Gat>Cat	p.D94H	PIK3CB_ENST00000289153.2_Missense_Mutation_p.D94H			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	94	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	CGTGTTTCATCTTCAAGCTCC	0.393																																						ENST00000477593.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(280-282)Gat>Cat		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							126.0	123.0	124.0					3																	138474713		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138474713C>G		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.280G>C	3.37:g.138474713C>G	ENSP00000418143:p.Asp94His					PIK3CB_ENST00000289153.2_Missense_Mutation_p.D94H	p.D94H			P42338	PK3CB_HUMAN			3	353	-			94			PI3K-ABD.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.280G>C	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951075	0.92660	.	.	ENSG00000051382	ENST00000477593;ENST00000289153;ENST00000483968;ENST00000461451	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.92987	0.7768	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93500	0.6843	10	0.87932	D	0	-21.0809	19.442	0.94824	0.0:1.0:0.0:0.0	.	94	P42338	PK3CB_HUMAN	H	94	ENSP00000418143:D94H;ENSP00000289153:D94H;ENSP00000419857:D94H;ENSP00000420399:D94H	ENSP00000289153:D94H	D	-	1	0	PIK3CB	139957403	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.400000	0.79949	2.591000	0.87537	0.585000	0.79938	GAT		0.393	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			4	89	0	0	0	1	0	4	89				
ZNF827	152485	broad.mit.edu	37	4	146823889	146823889	+	Silent	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr4:146823889G>A	ENST00000508784.1	-	2	749	c.522C>T	c.(520-522)gcC>gcT	p.A174A	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Silent_p.A174A			Q17R98	ZN827_HUMAN	zinc finger protein 827	174					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CCTGCTTCTCGGCCAACTTCC	0.532																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(520-522)gcC>gcT		zinc finger protein 827							86.0	78.0	80.0					4																	146823889		2203	4300	6503	SO:0001819	synonymous_variant	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146823889G>A	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.522C>T	4.37:g.146823889G>A						ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Silent_p.A174A	p.A174A			Q17R98	ZN827_HUMAN			2	749	-	all_hematologic(180;0.151)		174					B7ZL52|Q7Z4S7|Q8N279	Silent	SNP	ENST00000508784.1	37	c.522C>T																																																																																					0.532	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		24	31	0	0	0	1	0	24	31				
AKAP6	9472	broad.mit.edu	37	14	33291625	33291625	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr14:33291625A>G	ENST00000280979.4	+	13	4776	c.4606A>G	c.(4606-4608)Atg>Gtg	p.M1536V	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1536					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATCTCATGAAATGGATCGCAT	0.358																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(4606-4608)Atg>Gtg		A kinase (PRKA) anchor protein 6							101.0	105.0	104.0					14																	33291625		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33291625A>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4606A>G	14.37:g.33291625A>G	ENSP00000280979:p.Met1536Val					AKAP6_ENST00000557272.1_Intron	p.M1536V	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	4776	+	Breast(36;0.0388)|Prostate(35;0.15)		1536					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.4606A>G	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	A	7.721	0.697122	0.15106	.	.	ENSG00000151320	ENST00000280979	T	0.04654	3.58	5.79	4.62	0.57501	.	0.336402	0.32987	N	0.005402	T	0.06962	0.0177	L	0.60455	1.87	0.80722	D	1	B	0.22480	0.07	B	0.16722	0.016	T	0.09509	-1.0671	10	0.72032	D	0.01	-6.152	9.7491	0.40464	0.7083:0.0:0.0:0.2917	.	1536	Q13023	AKAP6_HUMAN	V	1536	ENSP00000280979:M1536V	ENSP00000280979:M1536V	M	+	1	0	AKAP6	32361376	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.366000	0.34193	0.980000	0.38523	0.528000	0.53228	ATG		0.358	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		6	101	0	0	0	1	0	6	101				
PLK2	10769	broad.mit.edu	37	5	57751226	57751226	+	Silent	SNP	G	G	A	rs200158376	byFrequency	TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr5:57751226G>A	ENST00000274289.3	-	12	1941	c.1641C>T	c.(1639-1641)taC>taT	p.Y547Y	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	547	POLO box 1. {ECO:0000255|PROSITE- ProRule:PRU00154}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CAAGCTCTGCGTAATAGTGAA	0.378													G|||	2	0.000399361	0.0	0.0	5008	,	,		21517	0.001		0.001	False		,,,				2504	0.0					ENST00000274289.3																			0				endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26						c.(1639-1641)taC>taT		polo-like kinase 2							69.0	69.0	69.0					5																	57751226		2203	4300	6503	SO:0001819	synonymous_variant	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57751226G>A		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1641C>T	5.37:g.57751226G>A						PLK2_ENST00000502671.1_Intron	p.Y547Y	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	12	1941	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	547			POLO box 1.		O60679|Q96CV7|Q9UE61	Silent	SNP	ENST00000274289.3	37	c.1641C>T	CCDS3974.1																																																																																				0.378	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		6	51	0	0	0	1	0	6	51				
SLC12A3	6559	broad.mit.edu	37	16	56913501	56913501	+	Silent	SNP	C	C	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr16:56913501C>A	ENST00000563236.1	+	11	1408	c.1383C>A	c.(1381-1383)atC>atA	p.I461I	SLC12A3_ENST00000438926.2_Silent_p.I461I|SLC12A3_ENST00000262502.5_Silent_p.I460I|SLC12A3_ENST00000566786.1_Silent_p.I460I			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	461					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CGGCTGGCATCTTCGGGGCCA	0.657																																						ENST00000438926.2																			0				breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1381-1383)atC>atA		solute carrier family 12 (sodium/chloride transporter), member 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						62.0	52.0	56.0					16																	56913501		2198	4300	6498	SO:0001819	synonymous_variant	0				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56913501C>A		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1383C>A	16.37:g.56913501C>A						SLC12A3_ENST00000566786.1_Silent_p.I460I|SLC12A3_ENST00000563236.1_Silent_p.I461I|SLC12A3_ENST00000262502.5_Silent_p.I460I	p.I461I	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN			11	1412	+			461					A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.1383C>A	CCDS58464.1																																																																																				0.657	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			9	58	1	0	0.000442599	1	0.000478293	9	58				
PDGFRL	5157	broad.mit.edu	37	8	17486008	17486008	+	Missense_Mutation	SNP	T	T	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr8:17486008T>A	ENST00000541323.1	+	5	963	c.518T>A	c.(517-519)cTc>cAc	p.L173H	PDGFRL_ENST00000251630.6_Missense_Mutation_p.L173H|PDGFRL_ENST00000398074.3_Missense_Mutation_p.L173H	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	173					G-protein coupled receptor signaling pathway (GO:0007186)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)	extracellular region (GO:0005576)	platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AAAGGAGAACTCTTTGTACCT	0.498																																						ENST00000541323.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9						c.(517-519)cTc>cAc		platelet-derived growth factor receptor-like							118.0	118.0	118.0					8																	17486008		2203	4300	6503	SO:0001583	missense	5157					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity	g.chr8:17486008T>A	D37965	CCDS6003.1	8p22-p21.3	2013-01-29			ENSG00000104213	ENSG00000104213		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8805	protein-coding gene	gene with protein product		604584					Standard	NM_006207		Approved	PRLTS	uc003wxr.3	Q15198	OTTHUMG00000130818	ENST00000541323.1:c.518T>A	8.37:g.17486008T>A	ENSP00000444211:p.Leu173His					PDGFRL_ENST00000251630.6_Missense_Mutation_p.L173H|PDGFRL_ENST00000398074.3_Missense_Mutation_p.L173H	p.L173H	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN		Colorectal(111;0.0752)	5	963	+			173					A8K085|Q6FH04	Missense_Mutation	SNP	ENST00000541323.1	37	c.518T>A	CCDS6003.1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.476324	0.63737	.	.	ENSG00000104213	ENST00000251630;ENST00000541323;ENST00000398074	T;T;T	0.29655	1.56;1.56;1.56	5.44	5.44	0.79542	Immunoglobulin-like fold (1);	0.189837	0.46758	D	0.000272	T	0.57242	0.2040	M	0.77103	2.36	0.58432	D	0.999994	D	0.89917	1.0	D	0.74023	0.982	T	0.62378	-0.6867	10	0.72032	D	0.01	-17.4094	15.8052	0.78501	0.0:0.0:0.0:1.0	.	173	Q15198	PGFRL_HUMAN	H	173	ENSP00000251630:L173H;ENSP00000444211:L173H;ENSP00000381149:L173H	ENSP00000251630:L173H	L	+	2	0	PDGFRL	17530288	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	7.698000	0.84413	2.206000	0.71126	0.533000	0.62120	CTC		0.498	PDGFRL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253366.3	NM_006207		7	98	0	0	0	1	0	7	98				
PLA2G15	23659	broad.mit.edu	37	16	68288858	68288858	+	Silent	SNP	T	T	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr16:68288858T>C	ENST00000219345.5	+	3	404	c.321T>C	c.(319-321)ttT>ttC	p.F107F	PLA2G15_ENST00000566188.1_Silent_p.F107F|PLA2G15_ENST00000444212.2_Intron|RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000413021.2_Missense_Mutation_p.F55S|RP11-96D1.7_ENST00000569843.1_RNA	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	107					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CCACCCAGTTTCCTGATGGTG	0.542																																						ENST00000413021.2																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						c.(163-165)tTc>tCc		phospholipase A2, group XV							126.0	123.0	124.0					16																	68288858		2198	4300	6498	SO:0001819	synonymous_variant	23659				fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	g.chr16:68288858T>C	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.321T>C	16.37:g.68288858T>C						PLA2G15_ENST00000566188.1_Silent_p.F107F|PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000219345.5_Silent_p.F107F	p.F55S			Q8NCC3	PAG15_HUMAN			2	287	+			0					B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Missense_Mutation	SNP	ENST00000219345.5	37	c.164T>C	CCDS10864.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.897915	0.33535	.	.	ENSG00000103066	ENST00000413021	D	0.96830	-4.14	5.62	-2.27	0.06846	.	0.344701	0.35151	N	0.003411	D	0.91841	0.7418	.	.	.	0.50039	D	0.999846	B	0.02656	0.0	B	0.01281	0.0	T	0.80446	-0.1379	9	0.87932	D	0	-47.8043	7.2502	0.26146	0.127:0.3857:0.0:0.4873	.	55	B4DUD1	.	S	55	ENSP00000394197:F55S	ENSP00000394197:F55S	F	+	2	0	PLA2G15	66846359	0.230000	0.23740	0.957000	0.39632	0.980000	0.70556	0.091000	0.15046	-0.404000	0.07610	0.533000	0.62120	TTC		0.542	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		4	88	0	0	0	1	0	4	88				
NCKAP1L	3071	broad.mit.edu	37	12	54925286	54925286	+	Silent	SNP	G	G	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr12:54925286G>T	ENST00000293373.6	+	24	2695	c.2616G>T	c.(2614-2616)gtG>gtT	p.V872V	NCKAP1L_ENST00000545638.2_Silent_p.V822V	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	872					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGCTGGTGGTGGAAAACATGG	0.498																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(2614-2616)gtG>gtT		NCK-associated protein 1-like							140.0	134.0	136.0					12																	54925286		2203	4300	6503	SO:0001819	synonymous_variant	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54925286G>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2616G>T	12.37:g.54925286G>T						NCKAP1L_ENST00000545638.2_Silent_p.V822V	p.V872V	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			24	2695	+			872					B4DUT5|Q52LW0	Silent	SNP	ENST00000293373.6	37	c.2616G>T	CCDS31813.1																																																																																				0.498	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		49	88	1	0	2.43277e-16	1	2.76264e-16	49	88				
TRIM41	90933	broad.mit.edu	37	5	180651273	180651273	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr5:180651273G>A	ENST00000315073.5	+	1	984	c.274G>A	c.(274-276)Gag>Aag	p.E92K	TRIM41_ENST00000351937.5_Missense_Mutation_p.E92K|MIR4638_ENST00000581158.1_RNA|CTC-338M12.7_ENST00000499096.2_RNA	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	92	Glu-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAAGACTACGAGGGTGACAT	0.617																																						ENST00000315073.5																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(274-276)Gag>Aag		tripartite motif containing 41							135.0	138.0	137.0					5																	180651273		2203	4300	6503	SO:0001583	missense	90933					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	g.chr5:180651273G>A	AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.274G>A	5.37:g.180651273G>A	ENSP00000320869:p.Glu92Lys					TRIM41_ENST00000351937.5_Missense_Mutation_p.E92K	p.E92K	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	984	+	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	92			Glu-rich.		B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Missense_Mutation	SNP	ENST00000315073.5	37	c.274G>A	CCDS4466.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083582	0.76642	.	.	ENSG00000146063	ENST00000351937;ENST00000315073	T;T	0.53206	1.01;0.63	4.47	4.47	0.54385	Zinc finger, RING-type (1);	0.000000	0.38058	N	0.001821	T	0.29945	0.0749	N	0.14661	0.345	0.29705	N	0.839847	B;B;B	0.33198	0.279;0.401;0.401	B;B;B	0.26693	0.033;0.072;0.072	T	0.33189	-0.9878	10	0.49607	T	0.09	.	14.6989	0.69142	0.0:0.0:1.0:0.0	.	92;92;92	Q8WV44;Q8WV44-2;Q8WV44-4	TRI41_HUMAN;.;.	K	92	ENSP00000336749:E92K;ENSP00000320869:E92K	ENSP00000320869:E92K	E	+	1	0	TRIM41	180583879	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	3.678000	0.54627	2.314000	0.78098	0.313000	0.20887	GAG		0.617	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3	NM_201627		9	175	0	0	0	1	0	9	175				
PDE3A	5139	broad.mit.edu	37	12	20801759	20801759	+	Silent	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr12:20801759C>T	ENST00000359062.3	+	13	2743	c.2703C>T	c.(2701-2703)gtC>gtT	p.V901V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	901	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GTTTCCTTGTCATTGAAGCAA	0.398																																						ENST00000359062.3																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(2701-2703)gtC>gtT		phosphodiesterase 3A, cGMP-inhibited	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						123.0	113.0	117.0					12																	20801759		2203	4300	6503	SO:0001819	synonymous_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20801759C>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2703C>T	12.37:g.20801759C>T						PDE3A_ENST00000544307.1_3'UTR	p.V901V	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN			13	2743	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	901			Catalytic (By similarity).		O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	c.2703C>T	CCDS31754.1																																																																																				0.398	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			17	37	0	0	0	1	0	17	37				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	52	0	0	0	1	0	4	52				
LRRC55	219527	broad.mit.edu	37	11	56950115	56950115	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr11:56950115C>A	ENST00000497933.1	+	1	895	c.748C>A	c.(748-750)Ctg>Atg	p.L250M		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	220	LRRCT.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CATGGAACCCCTGCTGAAGTG	0.622																																						ENST00000497933.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						c.(748-750)Ctg>Atg		leucine rich repeat containing 55							89.0	84.0	86.0					11																	56950115		2201	4296	6497	SO:0001583	missense	219527					integral to membrane		g.chr11:56950115C>A		CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.748C>A	11.37:g.56950115C>A	ENSP00000419542:p.Leu250Met						p.L250M	NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN			1	895	+			220			LRRCT.		A7E2U7|B2RN81	Missense_Mutation	SNP	ENST00000497933.1	37	c.748C>A	CCDS31539.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361936	0.61403	.	.	ENSG00000183908	ENST00000497933	T	0.02837	4.14	5.77	0.689	0.18033	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.47093	D	0.000256	T	0.11580	0.0282	M	0.82056	2.57	0.36031	D	0.83942	D	0.61697	0.99	D	0.65443	0.935	T	0.02126	-1.1209	10	0.62326	D	0.03	.	9.3219	0.37968	0.0:0.5628:0.0:0.4372	.	220	Q6ZSA7	LRC55_HUMAN	M	250	ENSP00000419542:L250M	ENSP00000419542:L250M	L	+	1	2	LRRC55	56706691	0.453000	0.25721	0.968000	0.41197	0.883000	0.51084	1.044000	0.30329	-0.114000	0.11936	0.561000	0.74099	CTG		0.622	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354503.2	NM_001005210		58	100	1	0	2.02796e-37	1	2.34264e-37	58	100				
NBPF3	84224	broad.mit.edu	37	1	21795209	21795209	+	Silent	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr1:21795209C>T	ENST00000318249.5	+	3	512	c.162C>T	c.(160-162)aaC>aaT	p.N54N	NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000318220.6_5'UTR|NBPF3_ENST00000342104.5_Silent_p.N54N	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	54						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGCCACAAACGTCAGCATGG	0.512											OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318249.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(160-162)aaC>aaT		neuroblastoma breakpoint family, member 3							90.0	103.0	98.0					1																	21795209		2203	4299	6502	SO:0001819	synonymous_variant	84224					cytoplasm		g.chr1:21795209C>T	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.162C>T	1.37:g.21795209C>T			OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	751	NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000342104.5_Silent_p.N54N|NBPF3_ENST00000318220.6_5'UTR	p.N54N	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	512	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	54					A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	c.162C>T	CCDS216.1																																																																																				0.512	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		6	163	0	0	0	1	0	6	163				
USP26	83844	broad.mit.edu	37	X	132160726	132160726	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:132160726T>C	ENST00000511190.1	-	6	1992	c.1523A>G	c.(1522-1524)cAc>cGc	p.H508R	USP26_ENST00000406273.1_Missense_Mutation_p.H508R|USP26_ENST00000370832.1_Missense_Mutation_p.H508R	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	508	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ACTGAATGAGTGCACTCCAAC	0.383																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(1522-1524)cAc>cGc		ubiquitin specific peptidase 26							166.0	169.0	168.0					X																	132160726		2203	4299	6502	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132160726T>C	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1523A>G	X.37:g.132160726T>C	ENSP00000423390:p.His508Arg					USP26_ENST00000406273.1_Missense_Mutation_p.H508R|USP26_ENST00000370832.1_Missense_Mutation_p.H508R	p.H508R	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	1992	-	Acute lymphoblastic leukemia(192;0.000127)		508					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.1523A>G	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	T	13.59	2.282885	0.40394	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.31510	1.49;1.49;1.49	3.95	3.95	0.45737	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.386788	0.19077	N	0.123357	T	0.41305	0.1153	L	0.52126	1.63	0.09310	N	1	D	0.59357	0.985	P	0.57371	0.819	T	0.14531	-1.0469	10	0.52906	T	0.07	-2.3582	10.288	0.43579	0.0:0.0:0.0:1.0	.	508	Q9BXU7	UBP26_HUMAN	R	508	ENSP00000359869:H508R;ENSP00000423390:H508R;ENSP00000384360:H508R	ENSP00000359869:H508R	H	-	2	0	USP26	131988392	0.990000	0.36364	0.005000	0.12908	0.003000	0.03518	5.055000	0.64282	1.790000	0.52503	0.430000	0.28490	CAC		0.383	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		96	150	0	0	0	1	0	96	150				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	56	0	0	0	1	0	4	56				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		4	30	0	0	0	1	0	4	30				
LCOR	84458	broad.mit.edu	37	10	98715304	98715304	+	Silent	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr10:98715304C>T	ENST00000371097.4	+	8	1473	c.927C>T	c.(925-927)ccC>ccT	p.P309P	LCOR_ENST00000371103.3_Silent_p.P309P|LCOR_ENST00000356016.3_Silent_p.P309P|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000540664.1_Silent_p.P309P			Q96JN0	LCOR_HUMAN	ligand dependent nuclear receptor corepressor	309					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		ATGCTGGACCCGATTCTTGGG	0.478																																						ENST00000540664.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13						c.(925-927)ccC>ccT		ligand dependent nuclear receptor corepressor							43.0	45.0	44.0					10																	98715304		2203	4300	6503	SO:0001819	synonymous_variant	84458							g.chr10:98715304C>T		CCDS7451.1, CCDS53561.1	10q24	2006-06-28			ENSG00000196233	ENSG00000196233			29503	protein-coding gene	gene with protein product		607698				12535528, 15193453	Standard	NM_001170765		Approved	MLR2, FLJ38026, KIAA1795		Q96JN0	OTTHUMG00000018841	ENST00000371097.4:c.927C>T	10.37:g.98715304C>T						LCOR_ENST00000498444.1_Intron|LCOR_ENST00000356016.3_Silent_p.P309P|LCOR_ENST00000371097.4_Silent_p.P309P|LCOR_ENST00000371103.3_Silent_p.P309P	p.P309P	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1				Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)	8	1470	+		Colorectal(252;0.162)						D3DR47|Q5VW16|Q7Z723|Q86T32|Q86T33|Q8N3L6	Silent	SNP	ENST00000371097.4	37	c.927C>T	CCDS7451.1																																																																																				0.478	LCOR-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049628.2			4	52	0	0	0	1	0	4	52				
WDR92	116143	broad.mit.edu	37	2	68371826	68371826	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr2:68371826C>T	ENST00000295121.6	-	3	422	c.306G>A	c.(304-306)atG>atA	p.M102I	RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000406245.2_Start_Codon_SNP_p.M1I|WDR92_ENST00000409164.1_Missense_Mutation_p.M102I|WDR92_ENST00000492039.2_5'UTR	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	102					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						AATATACTGGCATCTCTGGAG	0.363																																						ENST00000295121.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						c.(304-306)atG>atA		WD repeat domain 92							86.0	89.0	88.0					2																	68371826		2203	4300	6503	SO:0001583	missense	116143				apoptosis|histone lysine methylation		methylated histone residue binding	g.chr2:68371826C>T	AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"""WD repeat domain containing"""	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.306G>A	2.37:g.68371826C>T	ENSP00000295121:p.Met102Ile					WDR92_ENST00000492039.2_5'UTR|WDR92_ENST00000406245.2_Start_Codon_SNP_p.M1I|WDR92_ENST00000409164.1_Missense_Mutation_p.M102I	p.M102I	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN			3	422	-			102					Q96CR6	Missense_Mutation	SNP	ENST00000295121.6	37	c.306G>A	CCDS1884.1	.	.	.	.	.	.	.	.	.	.	C	0.889	-0.726017	0.03158	.	.	ENSG00000243667	ENST00000295121;ENST00000406245;ENST00000409164	T;T;T	0.64991	1.63;1.11;-0.13	5.98	-3.56	0.04626	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.445050	0.04190	N	0.328142	T	0.32010	0.0815	N	0.04203	-0.255	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28870	-1.0030	10	0.17832	T	0.49	.	2.1767	0.03864	0.2027:0.1185:0.4046:0.2743	.	102	Q96MX6	WDR92_HUMAN	I	102;1;102	ENSP00000295121:M102I;ENSP00000384518:M1I;ENSP00000386746:M102I	ENSP00000295121:M102I	M	-	3	0	WDR92	68225330	0.964000	0.33143	0.020000	0.16555	0.969000	0.65631	-0.616000	0.05591	-0.620000	0.05641	-0.157000	0.13467	ATG		0.363	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2	NM_138458		6	90	0	0	0	1	0	6	90				
CUBN	8029	broad.mit.edu	37	10	16982104	16982104	+	Silent	SNP	T	T	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr10:16982104T>C	ENST00000377833.4	-	37	5540	c.5475A>G	c.(5473-5475)ggA>ggG	p.G1825G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1825	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAGGGTATGTCCAACGATGG	0.473																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(5473-5475)ggA>ggG		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						176.0	184.0	181.0					10																	16982104		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16982104T>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5475A>G	10.37:g.16982104T>C							p.G1825G	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			37	5540	-			1825			CUB 12.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.5475A>G	CCDS7113.1																																																																																				0.473	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		5	333	0	0	0	1	0	5	333				
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C	rs371325185	byFrequency	TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398													g|||	29	0.00579073	0.0008	0.0072	5008	,	,		22210	0.002		0.0109	False		,,,				2504	0.0102					ENST00000418868.1																			0																																																			0							g.chr3:197348739G>C																													3.37:g.197348739G>C								NR_003266.2						0	520	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.398	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	108	0	0	0	1	0	4	108				
DST	667	broad.mit.edu	37	6	56323949	56323949	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr6:56323949C>G	ENST00000361203.3	-	98	22247	c.22240G>C	c.(22240-22242)Gtg>Ctg	p.V7414L	DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.V5124L|DST_ENST00000421834.2_Missense_Mutation_p.V5410L|DST_ENST00000446842.2_Missense_Mutation_p.V7199L|DST_ENST00000370754.5_Missense_Mutation_p.V7703L|DST_ENST00000370788.2_Missense_Mutation_p.V5328L|DST_ENST00000370769.4_Missense_Mutation_p.V7525L			Q03001	DYST_HUMAN	dystonin	7523					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTGAGCACACGGACTGGATT	0.582																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(23107-23109)Gtg>Ctg		dystonin							72.0	75.0	74.0					6																	56323949		2016	4186	6202	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56323949C>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.22240G>C	6.37:g.56323949C>G	ENSP00000354508:p.Val7414Leu					DST_ENST00000244364.6_Missense_Mutation_p.V5124L|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.V5410L|DST_ENST00000370769.4_Missense_Mutation_p.V7525L|DST_ENST00000370788.2_Missense_Mutation_p.V5328L|DST_ENST00000446842.2_Missense_Mutation_p.V7199L|DST_ENST00000361203.3_Missense_Mutation_p.V7414L	p.V7703L			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		102	23106	-	Lung NSC(77;0.103)		7523					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.23107G>C		.	.	.	.	.	.	.	.	.	.	C	18.09	3.546717	0.65198	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.64803	0.69;-0.11;-0.12;0.13;0.83;0.14;-0.03	5.96	5.96	0.96718	.	0.000000	0.47455	D	0.000229	T	0.74943	0.3783	M	0.72118	2.19	0.30949	N	0.724981	B;D;D;B;P;D;D;P	0.76494	0.068;0.998;0.999;0.068;0.582;0.998;0.974;0.652	B;D;D;B;B;D;P;B	0.80764	0.022;0.994;0.992;0.022;0.411;0.988;0.857;0.324	T	0.68934	-0.5278	9	0.32370	T	0.25	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	5410;7525;7703;7523;5124;211;211;5328	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8;Q9BSP9;Q86T18;E7ERU0	.;.;.;DYST_HUMAN;.;.;.;.	L	5124;7703;7525;5410;7199;5328;7414	ENSP00000244364:V5124L;ENSP00000359790:V7703L;ENSP00000359805:V7525L;ENSP00000400883:V5410L;ENSP00000393645:V7199L;ENSP00000359824:V5328L;ENSP00000354508:V7414L	ENSP00000244364:V5124L	V	-	1	0	DST	56431908	1.000000	0.71417	0.978000	0.43139	0.992000	0.81027	5.999000	0.70665	2.826000	0.97356	0.655000	0.94253	GTG		0.582	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		3	51	0	0	0	1	0	3	51				
IL1RL2	8808	broad.mit.edu	37	2	102805635	102805635	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr2:102805635G>A	ENST00000264257.2	+	3	284	c.158G>A	c.(157-159)aGt>aAt	p.S53N	IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.S53N	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	53	Ig-like C2-type 1.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GGGGAAGTCAGTGTAACATGG	0.388																																						ENST00000264257.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(157-159)aGt>aAt		interleukin 1 receptor-like 2							92.0	89.0	90.0					2																	102805635		2203	4300	6503	SO:0001583	missense	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102805635G>A	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.158G>A	2.37:g.102805635G>A	ENSP00000264257:p.Ser53Asn					IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.S53N	p.S53N	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN			3	284	+			53			Ig-like C2-type 1.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.158G>A	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	G	1.121	-0.655213	0.03480	.	.	ENSG00000115598	ENST00000264257;ENST00000421464;ENST00000539491	T;T;T	0.12672	2.66;2.66;2.66	5.86	-2.03	0.07365	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.330530	0.04577	N	0.394389	T	0.05318	0.0141	N	0.03253	-0.375	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38286	-0.9668	10	0.11794	T	0.64	.	6.2584	0.20887	0.418:0.1534:0.4286:0.0	.	53	Q9HB29	ILRL2_HUMAN	N	53	ENSP00000264257:S53N;ENSP00000387611:S53N;ENSP00000442184:S53N	ENSP00000264257:S53N	S	+	2	0	IL1RL2	102172067	0.000000	0.05858	0.000000	0.03702	0.132000	0.20833	0.436000	0.21526	-0.262000	0.09392	-0.312000	0.09012	AGT		0.388	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		3	57	0	0	0	1	0	3	57				
KIF5A	3798	broad.mit.edu	37	12	57960998	57960998	+	Splice_Site	SNP	T	T	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr12:57960998T>C	ENST00000455537.2	+	7	863		c.e7+2		KIF5A_ENST00000286452.5_Splice_Site	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTGTCACCAGTGAGTGAGGAT	0.522																																						ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.e7+2		kinesin family member 5A							141.0	132.0	135.0					12																	57960998		2203	4300	6503	SO:0001630	splice_region_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57960998T>C	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.589+2T>C	12.37:g.57960998T>C						KIF5A_ENST00000286452.5_Splice_Site		NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			7	863	+								A6H8M5|Q4LE26	Splice_Site	SNP	ENST00000455537.2	37		CCDS8945.1	.	.	.	.	.	.	.	.	.	.	T	18.45	3.626378	0.66901	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1836	0.59668	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF5A	56247265	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	7.226000	0.78060	2.008000	0.58898	0.372000	0.22366	.		0.522	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984	Intron	27	48	0	0	0	1	0	27	48				
DOCK5	80005	broad.mit.edu	37	8	25132947	25132947	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr8:25132947G>C	ENST00000276440.7	+	4	258	c.214G>C	c.(214-216)Gaa>Caa	p.E72Q	DOCK5_ENST00000481100.1_Missense_Mutation_p.E72Q	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	72					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGCAACTGTGGAAGACCTGGG	0.348																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(214-216)Gaa>Caa		dedicator of cytokinesis 5							72.0	73.0	72.0					8																	25132947		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25132947G>C		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.214G>C	8.37:g.25132947G>C	ENSP00000276440:p.Glu72Gln					DOCK5_ENST00000481100.1_Missense_Mutation_p.E72Q	p.E72Q	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	4	258	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	72					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.214G>C	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897417	0.33535	.	.	ENSG00000147459	ENST00000481100;ENST00000276440	T;T	0.34072	1.38;3.61	5.66	4.79	0.61399	Src homology-3 domain (1);	0.190968	0.45867	D	0.000324	T	0.32285	0.0824	L	0.42245	1.32	0.48288	D	0.999623	B	0.25206	0.12	B	0.26693	0.072	T	0.09465	-1.0673	10	0.46703	T	0.11	.	12.4425	0.55634	0.0813:0.0:0.9187:0.0	.	72	Q9H7D0	DOCK5_HUMAN	Q	72	ENSP00000429737:E72Q;ENSP00000276440:E72Q	ENSP00000276440:E72Q	E	+	1	0	DOCK5	25188864	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	5.159000	0.64923	1.408000	0.46895	-0.258000	0.10820	GAA		0.348	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		11	28	0	0	0	1	0	11	28				
COL19A1	1310	broad.mit.edu	37	6	70866564	70866564	+	Silent	SNP	A	A	G			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr6:70866564A>G	ENST00000322773.4	+	34	2343	c.2241A>G	c.(2239-2241)ggA>ggG	p.G747G	COL19A1_ENST00000393344.1_Silent_p.G369G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	747	Collagen-like 7.|Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTTTTTAGGGAAGCAAAGGAG	0.378																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(2239-2241)ggA>ggG		collagen, type XIX, alpha 1							77.0	80.0	79.0					6																	70866564		2203	4300	6503	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70866564A>G		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2241A>G	6.37:g.70866564A>G						COL19A1_ENST00000393344.1_Silent_p.G369G	p.G747G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			34	2343	+			747			Triple-helical region 4 (COL4).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.2241A>G	CCDS4970.1																																																																																				0.378	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			12	22	0	0	0	1	0	12	22				
SCN2A	6326	broad.mit.edu	37	2	166166923	166166923	+	Missense_Mutation	SNP	C	C	T	rs387906686		TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr2:166166923C>T	ENST00000375437.2	+	7	1078	c.788C>T	c.(787-789)gCg>gTg	p.A263V	SCN2A_ENST00000283256.6_Missense_Mutation_p.A263V|SCN2A_ENST00000375427.2_Missense_Mutation_p.A263V|SCN2A_ENST00000357398.3_Missense_Mutation_p.A263V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	263			A -> T (in EIEE11). {ECO:0000269|PubMed:23935176}.|A -> V (in EIEE11). {ECO:0000269|PubMed:20956790, ECO:0000269|PubMed:23550958}.		intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCGTGTTTGCGCTAATAGGA	0.418																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(787-789)gCg>gTg		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						223.0	215.0	217.0					2																	166166923		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166166923C>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.788C>T	2.37:g.166166923C>T	ENSP00000364586:p.Ala263Val					SCN2A_ENST00000283256.6_Missense_Mutation_p.A263V|SCN2A_ENST00000375427.2_Missense_Mutation_p.A263V|SCN2A_ENST00000357398.3_Missense_Mutation_p.A263V	p.A263V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			7	1078	+			263		A -> V (in EIEE11).			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.788C>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402726	0.83230	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95;-4.95	5.27	5.27	0.74061	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.99483	0.9816	H	0.98833	4.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97987	1.0352	10	0.87932	D	0	.	19.2407	0.93881	0.0:1.0:0.0:0.0	.	263;263	Q99250-2;Q99250	.;SCN2A_HUMAN	V	263	ENSP00000406454:A263V;ENSP00000364586:A263V;ENSP00000349973:A263V;ENSP00000283256:A263V;ENSP00000364576:A263V	ENSP00000283256:A263V	A	+	2	0	SCN2A	165875169	1.000000	0.71417	0.974000	0.42286	0.986000	0.74619	7.776000	0.85560	2.627000	0.88993	0.557000	0.71058	GCG		0.418	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		4	132	0	0	0	1	0	4	132				
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327																																						ENST00000565421.1																			0																																																			0							g.chr16:53404542_53404543insA																													16.37:g.53404545_53404545dupA														0	410	-									RNA	INS	ENST00000565421.1	37																																																																																						0.327	RP11-44F14.1-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000422364.2			7	31						7	31	---	---	---	---
CDH16	1014	broad.mit.edu	37	16	66943887	66943887	+	Splice_Site	DEL	A	A	-			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr16:66943887delA	ENST00000299752.4	-	16	2469		c.e16+1		CDH16_ENST00000568632.1_Splice_Site|CDH16_ENST00000565796.1_Splice_Site|CDH16_ENST00000570262.1_Splice_Site|CDH16_ENST00000394055.3_Splice_Site	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin						calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCCCAATCTCACCTCGAACCA	0.597																																						ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.e16+1		cadherin 16, KSP-cadherin							122.0	110.0	114.0					16																	66943887		2200	4300	6500	SO:0001630	splice_region_variant	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66943887delA	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.2275+1T>-	16.37:g.66943887delA						CDH16_ENST00000565796.1_Splice_Site|CDH16_ENST00000394055.3_Splice_Site|CDH16_ENST00000570262.1_Splice_Site|CDH16_ENST00000568632.1_Splice_Site		NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	16	2469	-		Ovarian(137;0.0563)						B4DPA8|H3BPD3|Q6UW93	Splice_Site	DEL	ENST00000299752.4	37		CCDS10823.1																																																																																				0.597	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062	Intron	47	151						47	151	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44650446	44650447	+	Frame_Shift_Ins	INS	-	-	C	rs141548269		TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr20:44650446_44650447insC	ENST00000454036.2	+	1	91_92	c.42_43insC	c.(43-45)cccfs	p.P15fs	RP11-465L10.10_ENST00000419897.1_RNA|RP11-465L10.10_ENST00000535913.1_RNA	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	15					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCCCCGCAGGGCCCGCCAGAAG	0.723																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(40-45)ggccgcfs		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)																																			SO:0001589	frameshift_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44650446_44650447insC	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.45dupC	20.37:g.44650449_44650449dupC	ENSP00000387694:p.Pro15fs					RP11-465L10.10_ENST00000535913.1_RNA	p.R15fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			1	118_119	+		Myeloproliferative disorder(115;0.0122)	15					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Frame_Shift_Ins	INS	ENST00000454036.2	37	c.42_43insC	CCDS46610.1																																																																																				0.723	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			2	4						2	4	---	---	---	---
ZFX	7543	broad.mit.edu	37	X	24228669	24228669	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:24228669delG	ENST00000379177.1	+	11	2021	c.1594delG	c.(1594-1596)gggfs	p.G532fs	ZFX_ENST00000540034.1_Frame_Shift_Del_p.G571fs|ZFX_ENST00000304543.5_Frame_Shift_Del_p.G532fs|ZFX_ENST00000338565.3_Frame_Shift_Del_p.G482fs|ZFX_ENST00000539115.1_Frame_Shift_Del_p.G303fs|ZFX_ENST00000379188.3_Frame_Shift_Del_p.G532fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	532					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|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)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AGCTGAACAAGGGTTATTGAA	0.438																																					Esophageal Squamous(20;306 562 7346 32868 37983)	ENST00000379177.1																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						c.(1594-1596)ggfs		zinc finger protein, X-linked							144.0	134.0	137.0					X																	24228669		2203	4300	6503	SO:0001589	frameshift_variant	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24228669delG		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.1594delG	X.37:g.24228669delG	ENSP00000368475:p.Gly532fs					ZFX_ENST00000304543.5_Frame_Shift_Del_p.G532fs|ZFX_ENST00000539115.1_Frame_Shift_Del_p.G303fs|ZFX_ENST00000338565.3_Frame_Shift_Del_p.G482fs|ZFX_ENST00000379188.3_Frame_Shift_Del_p.G532fs|ZFX_ENST00000540034.1_Frame_Shift_Del_p.G571fs	p.G532fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN			11	2021	+			532					B9EG97|O43668|Q8WYJ8	Frame_Shift_Del	DEL	ENST00000379177.1	37	c.1594delG	CCDS14211.1																																																																																				0.438	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410		36	87						36	87	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76875862	76875865	+	Splice_Site	DEL	CACT	CACT	-	rs141240580		TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:76875862_76875865delCACT	ENST00000373344.5	-	20	5484_5487	c.5270_5273delAGTG	c.(5269-5274)gagtgt>gt	p.EC1757fs	ATRX_ENST00000395603.3_Splice_Site_p.EC1719fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1757	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(2)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TATTAACTCACACTCAATTAGGTT	0.309			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		2	Unknown(2)	p.?(2)	bone(1)|pancreas(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.e20+1		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76875862_76875865delCACT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5272+1AGTG>-	X.37:g.76875862_76875865delCACT						ATRX_ENST00000395603.3_Splice_Site_p.1719_splice|ATRX_ENST00000480283.1_5'UTR	p.1757_splice	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			20	5484_5487	-			1757			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Splice_Site	DEL	ENST00000373344.5	37	c.5272_splice	CCDS14434.1																																																																																				0.309	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Frame_Shift_Del	8	43						8	43	---	---	---	---
