#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	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_type
PDIK1L	149420	broad.mit.edu	37	1	26448529	26448529	+	Missense_Mutation	SNP	C	C	G			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr1:26448529C>G	ENST00000374271.4	+	4	774	c.487C>G	c.(487-489)Cga>Gga	p.R163G	PDIK1L_ENST00000374269.1_Missense_Mutation_p.R163G	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	163	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R163R(1)|p.R163G(1)		large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		GATCATCCACCGAGATCTTAA	0.443																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|lung(1)	1											132.0	129.0	130.0					1																	26448529		2203	4300	6503	26321116	SO:0001583	missense	149420			AF411102	CCDS274.1	1p35.1	2008-02-05			ENSG00000175087	ENSG00000175087			18981	protein-coding gene	gene with protein product		610785				14631099	Standard	NM_152835		Approved	CLIK1L	uc009vsb.3	Q8N165	OTTHUMG00000007511	ENST00000374271.4:c.487C>G	1.37:g.26448529C>G	ENSP00000363389:p.Arg163Gly		26321116	B2R777|D3DPK2|Q5T2I0|Q8NDB3	Missense_Mutation	SNP	ENST00000374271.4	37	CCDS274.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102284	0.76983	.	.	ENSG00000175087	ENST00000444713;ENST00000374271;ENST00000374269	T;T;T	0.40225	1.04;1.04;1.04	5.96	5.96	0.96718	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65770	0.2723	M	0.73217	2.22	0.58432	D	0.999995	D	0.61080	0.989	D	0.67382	0.951	T	0.66224	-0.5977	10	0.87932	D	0	-11.9126	20.0112	0.97449	0.0:1.0:0.0:0.0	.	163	Q8N165	PDK1L_HUMAN	G	163	ENSP00000406510:R163G;ENSP00000363389:R163G;ENSP00000363387:R163G	ENSP00000363387:R163G	R	+	1	2	PDIK1L	26321116	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.527000	0.45615	2.826000	0.97356	0.655000	0.94253	CGA		0.443	PDIK1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019752.1	NM_152835		Missense_Mutation
LRRIQ3	127255	broad.mit.edu	37	1	74507353	74507353	+	Missense_Mutation	SNP	C	C	G			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr1:74507353C>G	ENST00000395089.1	-	6	1261	c.1262G>C	c.(1261-1263)aGt>aCt	p.S421T	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.S421T			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	421								p.S421T(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GTCAATATCACTAAATGTTCG	0.368																																																1	Substitution - Missense(1)	ovary(1)	1											150.0	137.0	141.0					1																	74507353		1845	4082	5927	74279941	SO:0001583	missense	127255			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1262G>C	1.37:g.74507353C>G	ENSP00000378524:p.Ser421Thr		74279941	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	CCDS41350.1	SNP	20	Broad	.	.	.	.	.	.	.	.	.	.	C	7.112	0.576286	0.13686	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.08193	3.12;3.12	5.77	-11.5	0.00074	.	1.219230	0.05930	N	0.635054	T	0.00936	0.0031	N	0.14661	0.345	0.09310	N	1	B	0.18166	0.026	B	0.14023	0.01	T	0.43766	-0.9371	10	0.13853	T	0.58	.	8.3414	0.32245	0.2542:0.104:0.0:0.6418	.	421	A6PVS8	LRIQ3_HUMAN	T	421	ENSP00000378524:S421T;ENSP00000346414:S421T	ENSP00000346414:S421T	S	-	2	0	LRRIQ3	74279941	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.697000	0.05098	-1.840000	0.01184	-1.350000	0.01237	AGT		0.368	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		Missense_Mutation
PDE4DIP	9659	broad.mit.edu	37	1	144952200	144952200	+	Splice_Site	SNP	C	C	T			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr1:144952200C>T	ENST00000369354.3	-	4	708		c.e4+1		PDE4DIP_ENST00000369356.4_Splice_Site|PDE4DIP_ENST00000313382.9_Splice_Site|PDE4DIP_ENST00000369347.4_Silent_p.K173K|PDE4DIP_ENST00000530740.1_Splice_Site|PDE4DIP_ENST00000369348.3_Silent_p.K310K|PDE4DIP_ENST00000369351.3_Splice_Site|PDE4DIP_ENST00000369359.4_Splice_Site|PDE4DIP_ENST00000369349.3_Splice_Site			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.?(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGGCACCTACTTGTCCCTCT	0.522			T	PDGFRB	MPD																																		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	1	Unknown(1)	ovary(1)	1											171.0	180.0	177.0					1																	144952200		2203	4300	6503	143663557	SO:0001630	splice_region_variant	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.518+1G>A	1.37:g.144952200C>T			143663557	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Splice_Site_SNP	SNP	ENST00000369354.3	37	CCDS30824.1	SNP	20	Broad	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907257	0.72868	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078;ENST00000534536	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7826	0.69776	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE4DIP	143663557	1.000000	0.71417	0.993000	0.49108	0.955000	0.61496	5.235000	0.65348	2.339000	0.79563	0.555000	0.69702	.		0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	Intron	Splice_Site_SNP
SPTA1	6708	broad.mit.edu	37	1	158613212	158613212	+	Missense_Mutation	SNP	C	C	A			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr1:158613212C>A	ENST00000368147.4	-	31	4522	c.4342G>T	c.(4342-4344)Ggg>Tgg	p.G1448W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1448					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.G1448W(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTGATCTTCCCTTCCTAAATA	0.453																																																1	Substitution - Missense(1)	ovary(1)	1											91.0	87.0	88.0					1																	158613212		1883	4113	5996	156879836	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4342G>T	1.37:g.158613212C>A	ENSP00000357129:p.Gly1448Trp		156879836	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842853	0.71488	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.36699	1.24;1.24	4.92	3.95	0.45737	.	1.563810	0.04634	N	0.404234	T	0.38585	0.1046	L	0.46157	1.445	0.41372	D	0.987493	P	0.52316	0.952	D	0.63957	0.92	T	0.26087	-1.0113	10	0.72032	D	0.01	.	6.6192	0.22794	0.0:0.8276:0.0:0.1724	.	1448	P02549	SPTA1_HUMAN	W	1448	ENSP00000357130:G1448W;ENSP00000357129:G1448W	ENSP00000357129:G1448W	G	-	1	0	SPTA1	156879836	1.000000	0.71417	0.968000	0.41197	0.974000	0.67602	4.319000	0.59197	1.270000	0.44297	0.655000	0.94253	GGG		0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		Missense_Mutation
B3GALT2	8707	broad.mit.edu	37	1	193149834	193149834	+	Missense_Mutation	SNP	C	C	T			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr1:193149834C>T	ENST00000367434.4	-	2	1614	c.859G>A	c.(859-861)Gca>Aca	p.A287T	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	287					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.A287T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						CGATTGGGTGCATATCCTCGC	0.413																																																1	Substitution - Missense(1)	ovary(1)	1											153.0	140.0	145.0					1																	193149834		2203	4300	6503	191416457	SO:0001583	missense	8707			Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"""Beta 3-glycosyltransferases"""	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.859G>A	1.37:g.193149834C>T	ENSP00000356404:p.Ala287Thr		191416457	B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	CCDS1383.1	SNP	25	Broad	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885824	0.72410	.	.	ENSG00000162630	ENST00000367434	D	0.84800	-1.9	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.84284	0.5438	L	0.41236	1.265	0.80722	D	1	P	0.47677	0.899	P	0.48873	0.593	T	0.81267	-0.1010	10	0.20046	T	0.44	.	18.8791	0.92350	0.0:1.0:0.0:0.0	.	287	O43825	B3GT2_HUMAN	T	287	ENSP00000356404:A287T	ENSP00000356404:A287T	A	-	1	0	B3GALT2	191416457	1.000000	0.71417	0.967000	0.41034	0.973000	0.67179	4.692000	0.61746	2.451000	0.82905	0.650000	0.86243	GCA		0.413	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	NM_003783		Missense_Mutation
PRELP	5549	broad.mit.edu	37	1	203453266	203453266	+	Silent	SNP	C	C	T			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr1:203453266C>T	ENST00000343110.2	+	2	1081	c.954C>T	c.(952-954)ctC>ctT	p.L318L		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	318					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.L318L(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCTGTACCTCAACAACAATA	0.562																																																2	Substitution - coding silent(2)	urinary_tract(1)|ovary(1)	1											27.0	30.0	29.0					1																	203453266		2186	4241	6427	201719889	SO:0001819	synonymous_variant	5549			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.954C>T	1.37:g.203453266C>T			201719889	Q6FG38	Silent	SNP	ENST00000343110.2	37	CCDS1438.1	SNP	29	Broad																																																																																				0.562	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		Silent
PNLIP	5406	broad.mit.edu	37	10	118315569	118315569	+	Missense_Mutation	SNP	G	G	C			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr10:118315569G>C	ENST00000369221.2	+	9	897	c.869G>C	c.(868-870)aGc>aCc	p.S290T		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	290					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.S290T(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TACACTGATAGCATCGTCAAC	0.423																																																1	Substitution - Missense(1)	ovary(1)	10											208.0	183.0	192.0					10																	118315569		2203	4300	6503	118305559	SO:0001583	missense	5406			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.869G>C	10.37:g.118315569G>C	ENSP00000358223:p.Ser290Thr		118305559	Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	CCDS7594.1	SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128828	0.56721	.	.	ENSG00000175535	ENST00000369221	D	0.94138	-3.36	6.16	6.16	0.99307	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97300	0.9117	M	0.87682	2.9	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.97256	0.9901	10	0.87932	D	0	.	19.6313	0.95704	0.0:0.0:1.0:0.0	.	290	P16233	LIPP_HUMAN	T	290	ENSP00000358223:S290T	ENSP00000358223:S290T	S	+	2	0	PNLIP	118305559	1.000000	0.71417	0.975000	0.42487	0.114000	0.19823	4.819000	0.62664	2.937000	0.99478	0.650000	0.86243	AGC		0.423	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		Missense_Mutation
PPAPDC1A	196051	broad.mit.edu	37	10	122334730	122334730	+	Missense_Mutation	SNP	G	G	A			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr10:122334730G>A	ENST00000398250.1	+	6	885	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	PPAPDC1A_ENST00000496437.1_3'UTR|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.R115Q|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.R168Q|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.R178Q	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	178					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)	p.R178Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		AAGAGCTGGCGGCTCTGTGCT	0.597																																																1	Substitution - Missense(1)	ovary(1)	10											88.0	92.0	91.0					10																	122334730		2130	4239	6369	122324720	SO:0001583	missense	196051			AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.533G>A	10.37:g.122334730G>A	ENSP00000381302:p.Arg178Gln		122324720	A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	CCDS41573.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	G	36	5.815754	0.96982	.	.	ENSG00000203805	ENST00000439221;ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.5	5.5	0.81552	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.050592	0.85682	D	0.000000	D	0.89136	0.6629	M	0.81497	2.545	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.99	P;D;P	0.83275	0.899;0.996;0.679	D	0.89868	0.4021	10	0.66056	D	0.02	-30.1343	19.3885	0.94566	0.0:0.0:1.0:0.0	.	178;115;178	B7Z3R3;Q5VZY2-2;Q5VZY2	.;.;PPC1A_HUMAN	Q	115;178;178;178;168	ENSP00000381302:R178Q;ENSP00000407979:R178Q;ENSP00000440493:R178Q;ENSP00000358069:R168Q	ENSP00000358069:R168Q	R	+	2	0	PPAPDC1A	122324720	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.785000	0.99042	2.570000	0.86706	0.655000	0.94253	CGG		0.597	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		Missense_Mutation
CYP2E1	1571	broad.mit.edu	37	10	135342013	135342013	+	Missense_Mutation	SNP	C	C	G			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr10:135342013C>G	ENST00000463117.2	+	4	478	c.206C>G	c.(205-207)aCg>aGg	p.T69R	AL161645.2_ENST00000599428.1_Intron|SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.T69R|CYP2E1_ENST00000480558.1_3'UTR			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	69					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.T69R(1)		NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CCGGTGTTCACGCTGTACGTG	0.672									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																							1	Substitution - Missense(1)	ovary(1)	10											62.0	52.0	55.0					10																	135342013		2203	4300	6503	135192003	SO:0001583	missense	1571	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.206C>G	10.37:g.135342013C>G	ENSP00000440689:p.Thr69Arg		135192003	Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	CCDS7686.1	SNP	19	Broad	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264590	0.80358	.	.	ENSG00000130649	ENST00000463117;ENST00000541261;ENST00000252945	T;T;T	0.67698	-0.28;-0.28;-0.28	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.78123	0.4234	L	0.60012	1.86	0.33962	D	0.645786	D	0.76494	0.999	D	0.68039	0.955	D	0.84301	0.0505	10	0.87932	D	0	.	16.1193	0.81336	0.0:1.0:0.0:0.0	.	69	P05181	CP2E1_HUMAN	R	69	ENSP00000440689:T69R;ENSP00000437799:T69R;ENSP00000252945:T69R	ENSP00000252945:T69R	T	+	2	0	CYP2E1	135192003	0.933000	0.31639	0.958000	0.39756	0.985000	0.73830	1.958000	0.40402	2.751000	0.94390	0.555000	0.69702	ACG		0.672	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		Missense_Mutation
NUP160	23279	broad.mit.edu	37	11	47814385	47814385	+	Missense_Mutation	SNP	T	T	C			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr11:47814385T>C	ENST00000378460.2	-	28	3449	c.3403A>G	c.(3403-3405)Att>Gtt	p.I1135V	NUP160_ENST00000530326.1_Missense_Mutation_p.I1021V|NUP160_ENST00000528071.1_Missense_Mutation_p.I1021V	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1135					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.I1135V(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TCTGGACGAATAAGTCGTAAA	0.458																																																1	Substitution - Missense(1)	ovary(1)	11											167.0	157.0	160.0					11																	47814385		2201	4298	6499	47770961	SO:0001583	missense	23279			D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3403A>G	11.37:g.47814385T>C	ENSP00000367721:p.Ile1135Val		47770961	B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	CCDS31484.1	SNP	49	Broad	.	.	.	.	.	.	.	.	.	.	T	10.06	1.245618	0.22796	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.21191	2.57;2.02;2.13	5.44	5.44	0.79542	.	0.121715	0.53938	D	0.000041	T	0.06188	0.0160	N	0.00707	-1.245	0.80722	D	1	B	0.18310	0.027	B	0.15052	0.012	T	0.28902	-1.0029	10	0.02654	T	1	.	15.1779	0.72931	0.0:0.0:0.0:1.0	.	1135	Q12769	NU160_HUMAN	V	1135;1021;1021	ENSP00000367721:I1135V;ENSP00000433590:I1021V;ENSP00000432367:I1021V	ENSP00000367721:I1135V	I	-	1	0	NUP160	47770961	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.906000	0.69900	2.068000	0.61886	0.528000	0.53228	ATT		0.458	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		Missense_Mutation
OR4C13	283092	broad.mit.edu	37	11	49974083	49974083	+	Missense_Mutation	SNP	A	A	G			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr11:49974083A>G	ENST00000555099.1	+	1	141	c.109A>G	c.(109-111)Atg>Gtg	p.M37V		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M37V(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CATCAACGCCATGATAGGAAA	0.413																																																1	Substitution - Missense(1)	ovary(1)	11											221.0	202.0	208.0					11																	49974083		2201	4296	6497	49930659	SO:0001583	missense	283092			AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.109A>G	11.37:g.49974083A>G	ENSP00000452277:p.Met37Val		49930659	A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	CCDS31495.1	SNP	8	Broad	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.640877	0.00007	.	.	ENSG00000258817	ENST00000555099	T	0.00416	7.51	2.95	-3.82	0.04281	.	1.169940	0.06582	N	0.750450	T	0.00073	0.0002	N	0.00215	-1.835	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29610	-1.0006	9	.	.	.	.	1.2023	0.01887	0.3397:0.2539:0.2777:0.1287	.	37	Q8NGP0	OR4CD_HUMAN	V	37	ENSP00000452277:M37V	.	M	+	1	0	OR4C13	49930659	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-7.570000	0.00034	-1.678000	0.01454	-2.594000	0.00164	ATG		0.413	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		Missense_Mutation
GIF	2694	broad.mit.edu	37	11	59612902	59612902	+	Silent	SNP	G	G	A			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr11:59612902G>A	ENST00000257248.2	-	1	72	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	GIF_ENST00000541311.1_5'UTR	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	9					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)	p.L9L(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	AGAAGGCTCAGGAGGTAGAGG	0.498																																					NSCLC(53;1139 1245 16872 38474 42853)											1	Substitution - coding silent(1)	ovary(1)	11											172.0	168.0	170.0					11																	59612902		2201	4295	6496	59369478	SO:0001819	synonymous_variant	2694			X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.25C>T	11.37:g.59612902G>A			59369478	B2RAN8|B4DVZ1	Silent	SNP	ENST00000257248.2	37	CCDS7977.1	SNP	35	Broad																																																																																				0.498	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		Silent
E2F7	144455	broad.mit.edu	37	12	77423663	77423663	+	Missense_Mutation	SNP	T	T	A			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr12:77423663T>A	ENST00000322886.7	-	10	2067	c.1832A>T	c.(1831-1833)aAa>aTa	p.K611I	E2F7_ENST00000416496.2_Missense_Mutation_p.K611I	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	611					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.K611I(1)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						ACTTTGCCTTTTAGTGGCTGG	0.557																																																1	Substitution - Missense(1)	ovary(1)	12											101.0	92.0	95.0					12																	77423663		2203	4300	6503	75947794	SO:0001583	missense	144455			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.1832A>T	12.37:g.77423663T>A	ENSP00000323246:p.Lys611Ile		75947794	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	ENST00000322886.7	37	CCDS9016.1	SNP	64	Broad	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241633	0.58995	.	.	ENSG00000165891	ENST00000322886;ENST00000339887;ENST00000416496;ENST00000550669	T;T;T	0.54279	0.58;0.58;0.58	5.69	5.69	0.88448	.	0.105450	0.64402	D	0.000005	T	0.70185	0.3195	M	0.68952	2.095	0.44042	D	0.99677	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.73272	-0.4035	10	0.72032	D	0.01	-25.4272	13.6802	0.62479	0.0:0.0:0.0:1.0	.	611;611	Q96AV8-2;Q96AV8	.;E2F7_HUMAN	I	611;98;611;611	ENSP00000323246:K611I;ENSP00000393639:K611I;ENSP00000448245:K611I	ENSP00000323246:K611I	K	-	2	0	E2F7	75947794	1.000000	0.71417	0.959000	0.39883	0.017000	0.09413	5.169000	0.64984	2.162000	0.67917	0.533000	0.62120	AAA		0.557	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	XM_084871		Missense_Mutation
MYL2	4633	broad.mit.edu	37	12	111353546	111353546	+	Missense_Mutation	SNP	C	C	A			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr12:111353546C>A	ENST00000228841.8	-	3	189	c.142G>T	c.(142-144)Gat>Tat	p.D48Y	MYL2_ENST00000548438.1_Intron	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	48	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle cell fate specification (GO:0042694)|muscle fiber development (GO:0048747)|muscle filament sliding (GO:0030049)|negative regulation of cell growth (GO:0030308)|post-embryonic development (GO:0009791)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|myofibril (GO:0030016)|myosin complex (GO:0016459)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)	p.D48Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						TCTCTCAGATCGTTCTTGTCA	0.527																																					GBM(14;268 426 18829 21617 25540)											1	Substitution - Missense(1)	ovary(1)	12											259.0	221.0	233.0					12																	111353546		2203	4300	6503	109837929	SO:0001583	missense	4633				CCDS31901.1	12q24.11	2014-09-17	2006-09-29		ENSG00000111245	ENSG00000111245		"""Myosins / Light chain"", ""EF-hand domain containing"""	7583	protein-coding gene	gene with protein product	"""cardiac ventricular myosin light chain 2"""	160781	"""myosin, light polypeptide 2, regulatory, cardiac, slow"""			1386340	Standard	NM_000432		Approved	CMH10	uc001try.4	P10916	OTTHUMG00000169535	ENST00000228841.8:c.142G>T	12.37:g.111353546C>A	ENSP00000228841:p.Asp48Tyr		109837929	Q16123	Missense_Mutation	SNP	ENST00000228841.8	37	CCDS31901.1	SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506538	0.85282	.	.	ENSG00000111245	ENST00000228841;ENST00000550439	T	0.65732	-0.17	5.06	5.06	0.68205	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.86322	0.5905	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91190	0.4983	10	0.87932	D	0	.	17.2054	0.86916	0.0:1.0:0.0:0.0	.	48	P10916	MLRV_HUMAN	Y	48;29	ENSP00000228841:D48Y	ENSP00000228841:D48Y	D	-	1	0	MYL2	109837929	1.000000	0.71417	0.981000	0.43875	0.987000	0.75469	7.232000	0.78116	2.357000	0.79964	0.561000	0.74099	GAT		0.527	MYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404677.2	NM_000432		Missense_Mutation
DGKH	160851	broad.mit.edu	37	13	42783575	42783575	+	Missense_Mutation	SNP	A	A	G			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr13:42783575A>G	ENST00000337343.4	+	23	2845	c.2824A>G	c.(2824-2826)Aga>Gga	p.R942G	DGKH_ENST00000540693.1_Missense_Mutation_p.R942G|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.R806G|DGKH_ENST00000538674.1_Missense_Mutation_p.R697G|DGKH_ENST00000379274.2_Missense_Mutation_p.R806G|DGKH_ENST00000261491.5_Missense_Mutation_p.R942G	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	942					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.R942G(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GCACAAAAACAGAGCACAAAT	0.363																																																1	Substitution - Missense(1)	ovary(1)	13											88.0	80.0	83.0					13																	42783575		2203	4300	6503	41681575	SO:0001583	missense	160851			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.2824A>G	13.37:g.42783575A>G	ENSP00000337572:p.Arg942Gly		41681575	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	ENST00000337343.4	37	CCDS9381.1	SNP	7	Broad	.	.	.	.	.	.	.	.	.	.	A	18.73	3.686301	0.68157	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612;ENST00000538674	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.68	1.73	0.24493	.	0.000000	0.85682	D	0.000000	T	0.62889	0.2465	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.996	D;D;D;D	0.91635	0.972;0.999;0.995;0.957	T	0.63910	-0.6530	10	0.66056	D	0.02	.	8.6329	0.33930	0.4777:0.4024:0.0:0.1199	.	697;806;942;942	F5GYP2;Q86XP1-3;Q86XP1-2;Q86XP1	.;.;.;DGKH_HUMAN	G	942;942;942;806;806;697	ENSP00000440823:R942G;ENSP00000337572:R942G;ENSP00000261491:R942G;ENSP00000368576:R806G;ENSP00000445114:R806G;ENSP00000441308:R697G	ENSP00000261491:R942G	R	+	1	2	DGKH	41681575	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.851000	0.39338	0.519000	0.28406	0.482000	0.46254	AGA		0.363	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		Missense_Mutation
ADAMTSL3	57188	broad.mit.edu	37	15	84694187	84694187	+	Splice_Site	SNP	G	G	A			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr15:84694187G>A	ENST00000286744.5	+	27	4879	c.4655G>A	c.(4654-4656)cGg>cAg	p.R1552Q	ADAMTSL3_ENST00000567476.1_Splice_Site_p.R1552Q	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1552						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1552Q(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCAGGGAACCGGGTAAAGCTA	0.483																																																1	Substitution - Missense(1)	ovary(1)	15											64.0	63.0	64.0					15																	84694187		2203	4299	6502	82485191	SO:0001630	splice_region_variant	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.4656+1G>A	15.37:g.84694187G>A			82485191	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	CCDS10326.1	SNP	39	Broad	.	.	.	.	.	.	.	.	.	.	A	2.337	-0.352015	0.05173	.	.	ENSG00000156218	ENST00000286744	T	0.62639	0.01	5.0	5.0	0.66597	.	0.922843	0.08979	N	0.866129	T	0.25531	0.0621	N	0.00554	-1.385	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26189	-1.0110	10	0.02654	T	1	.	7.526	0.27656	0.9045:0.0:0.0955:0.0	.	1552;1552	P82987-2;P82987	.;ATL3_HUMAN	Q	1552	ENSP00000286744:R1552Q	ENSP00000286744:R1552Q	R	+	2	0	ADAMTSL3	82485191	1.000000	0.71417	1.000000	0.80357	0.259000	0.26198	2.356000	0.44116	0.924000	0.37069	-0.254000	0.11334	CGG		0.483	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517	Missense_Mutation	Missense_Mutation
CDK12	51755	broad.mit.edu	37	17	37649051	37649051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr17:37649051G>A	ENST00000447079.4	+	4	2189	c.2156G>A	c.(2155-2157)tGg>tAg	p.W719*	CDK12_ENST00000430627.2_Nonsense_Mutation_p.W719*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	719					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.W719*(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GAAAGCGACTGGGGGAAACGC	0.388			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	1	Substitution - Nonsense(1)	ovary(1)	17											75.0	77.0	76.0					17																	37649051		2203	4300	6503	34902577	SO:0001587	stop_gained	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2156G>A	17.37:g.37649051G>A	ENSP00000398880:p.Trp719*		34902577	A7E2B2|B4DYX4|B9EIQ6|O94978	Nonsense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	SNP	47	Broad	.	.	.	.	.	.	.	.	.	.	G	38	7.269320	0.98175	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	5.89	5.89	0.94794	.	0.000000	0.44688	D	0.000422	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7818	20.2576	0.98430	0.0:0.0:1.0:0.0	.	.	.	.	X	719	.	ENSP00000407720:W719X	W	+	2	0	CDK12	34902577	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.827000	0.99397	2.783000	0.95769	0.655000	0.94253	TGG		0.388	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		Nonsense_Mutation
RAD23A	5886	broad.mit.edu	37	19	13063845	13063845	+	Missense_Mutation	SNP	G	G	C			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr19:13063845G>C	ENST00000586534.1	+	9	1135	c.1074G>C	c.(1072-1074)caG>caC	p.Q358H	RAD23A_ENST00000541222.1_Missense_Mutation_p.Q193H|RAD23A_ENST00000592268.1_Missense_Mutation_p.Q303H|RAD23A_ENST00000316856.3_Missense_Mutation_p.Q357H			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	358	HIV-1 vpr binding.|UBA 2. {ECO:0000255|PROSITE- ProRule:PRU00212}.				nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)	p.Q358H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						TCCTGAGTCAGAACTTTGATG	0.468								Nucleotide excision repair (NER)																																								1	Substitution - Missense(1)	ovary(1)	19											77.0	74.0	75.0					19																	13063845		2203	4300	6503	12924845	SO:0001583	missense	5886				CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"""RAD23, yeast homolog, A"""	600061	"""RAD23 (S. cerevisiae) homolog A"""			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.1074G>C	19.37:g.13063845G>C	ENSP00000467024:p.Gln358His		12924845	K7ESE3|Q59EU8|Q5M7Z1	Missense_Mutation	SNP	ENST00000586534.1	37	CCDS12289.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520764	0.27211	.	.	ENSG00000179262	ENST00000316856;ENST00000541222	T	0.52295	0.67	4.88	4.88	0.63580	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);UBA-like (1);	0.000000	0.64402	D	0.000003	T	0.64735	0.2625	M	0.78637	2.42	0.58432	D	0.999995	D;B;D	0.71674	0.984;0.042;0.998	D;B;D	0.87578	0.994;0.059;0.998	T	0.62487	-0.6844	10	0.21014	T	0.42	-28.3364	10.5329	0.44988	0.0908:0.0:0.9092:0.0	.	357;374;358	A8K1J3;Q59EU8;P54725	.;.;RD23A_HUMAN	H	358;193	ENSP00000438741:Q193H	ENSP00000321365:Q358H	Q	+	3	2	RAD23A	12924845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.033000	0.70925	2.281000	0.76405	0.555000	0.69702	CAG		0.468	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1	NM_005053		Missense_Mutation
ZNF583	147949	broad.mit.edu	37	19	56934806	56934806	+	Missense_Mutation	SNP	G	G	A			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr19:56934806G>A	ENST00000333201.9	+	5	989	c.779G>A	c.(778-780)aGa>aAa	p.R260K	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Missense_Mutation_p.R260K	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R260K(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CAACATAAGAGAATACATACT	0.438																																																1	Substitution - Missense(1)	ovary(1)	19											52.0	53.0	53.0					19																	56934806		2203	4298	6501	61626618	SO:0001583	missense	147949			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.779G>A	19.37:g.56934806G>A	ENSP00000388502:p.Arg260Lys		61626618	O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	CCDS12943.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956845	0.73902	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.02197	4.4;4.4	4.43	4.43	0.53597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000308	T	0.06554	0.0168	L	0.28458	0.855	0.39708	D	0.971281	D	0.65815	0.995	D	0.70227	0.968	T	0.55780	-0.8087	9	.	.	.	.	16.3372	0.83068	0.0:0.0:1.0:0.0	.	260	Q96ND8	ZN583_HUMAN	K	260	ENSP00000291598:R260K;ENSP00000388502:R260K	.	R	+	2	0	ZNF583	61626618	0.000000	0.05858	0.047000	0.18901	0.936000	0.57629	0.246000	0.18160	2.473000	0.83533	0.462000	0.41574	AGA		0.438	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1	NM_152478		Missense_Mutation
TRIB3	57761	broad.mit.edu	37	20	371976	371976	+	Missense_Mutation	SNP	C	C	G			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr20:371976C>G	ENST00000217233.3	+	3	890	c.337C>G	c.(337-339)Cgg>Ggg	p.R113G	TRIB3_ENST00000422053.2_Missense_Mutation_p.R140G	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	113	Interaction with DDIT3/CHOP.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)	p.R113G(1)		breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GCCCTATGCGCGGCTGCCCCC	0.657																																					Melanoma(101;421 2374 19538)											1	Substitution - Missense(1)	ovary(1)	20											46.0	50.0	49.0					20																	371976		2202	4299	6501	319976	SO:0001583	missense	57761			AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.337C>G	20.37:g.371976C>G	ENSP00000217233:p.Arg113Gly		319976	Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Missense_Mutation	SNP	ENST00000217233.3	37	CCDS12997.1	SNP	27	Broad	.	.	.	.	.	.	.	.	.	.	C	9.947	1.219128	0.22373	.	.	ENSG00000101255	ENST00000217233;ENST00000449710;ENST00000422053	T;T;T	0.66815	-0.23;-0.23;-0.23	5.1	-2.19	0.07015	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.829710	0.10065	N	0.720466	T	0.75376	0.3841	M	0.86097	2.795	0.09310	N	1	P;P	0.48503	0.911;0.911	P;P	0.53809	0.735;0.67	T	0.67749	-0.5590	10	0.52906	T	0.07	-6.3673	9.206	0.37289	0.6086:0.3188:0.0:0.0725	.	140;113	B4DMM9;Q96RU7	.;TRIB3_HUMAN	G	113;113;140	ENSP00000217233:R113G;ENSP00000391873:R113G;ENSP00000415416:R140G	ENSP00000217233:R113G	R	+	1	2	TRIB3	319976	0.000000	0.05858	0.000000	0.03702	0.114000	0.19823	0.367000	0.20382	-0.547000	0.06207	0.561000	0.74099	CGG		0.657	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158		Missense_Mutation
CRLS1	54675	broad.mit.edu	37	20	6012658	6012658	+	Splice_Site	SNP	C	C	G			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr20:6012658C>G	ENST00000378863.4	+	5	818	c.661C>G	c.(661-663)Cga>Gga	p.R221G	CRLS1_ENST00000464921.1_3'UTR|CRLS1_ENST00000452938.1_Splice_Site_p.A192G|CRLS1_ENST00000378868.4_Splice_Site_p.R122G	NM_019095.4	NP_061968.1	Q9UJA2	CRLS1_HUMAN	cardiolipin synthase 1	221					cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	phosphotransferase activity, for other substituted phosphate groups (GO:0016780)	p.R221G(1)		lung(3)|ovary(1)	4						CCTCTGCCAGCGAACACTTGC	0.303																																																1	Substitution - Missense(1)	ovary(1)	20											107.0	104.0	105.0					20																	6012658		2203	4300	6503	5960658	SO:0001630	splice_region_variant	54675			AF241784	CCDS13096.1, CCDS46578.1	20p13-p12.3	2006-04-04	2006-04-04	2006-04-04	ENSG00000088766	ENSG00000088766			16148	protein-coding gene	gene with protein product	"""GCD10 homolog (S. cerevisiae)"""	608188	"""chromosome 20 open reading frame 155"""	C20orf155		16547353	Standard	NM_019095		Approved	dJ967N21.6, CLS1, GCD10	uc002wmn.4	Q9UJA2	OTTHUMG00000031823	ENST00000378863.4:c.661-1C>G	20.37:g.6012658C>G			5960658	D3DW09|E9PAT4|Q27RP0|Q69YQ5	Missense_Mutation	SNP	ENST00000378863.4	37	CCDS13096.1	SNP	27	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.92|16.92	3.254292|3.254292	0.59212|0.59212	.|.	.|.	ENSG00000088766|ENSG00000088766	ENST00000452938|ENST00000378863;ENST00000378868	T|.	0.46063|.	0.88|.	5.73|5.73	0.19|0.19	0.15125|0.15125	.|.	.|0.125329	.|0.52532	.|D	.|0.000062	T|T	0.66886|0.66886	0.2835|0.2835	M|M	0.75615|0.75615	2.305|2.305	0.45250|0.45250	D|D	0.998257|0.998257	.|P;D	.|0.57257	.|0.873;0.979	.|P;P	.|0.59487	.|0.529;0.858	T|T	0.64334|0.64334	-0.6432|-0.6432	6|8	.|.	.|.	.|.	-31.2437|-31.2437	9.5881|9.5881	0.39528|0.39528	0.6338:0.2955:0.0:0.0706|0.6338:0.2955:0.0:0.0706	.|.	.|122;221	.|Q9UJA2-2;Q9UJA2	.|.;CRLS1_HUMAN	G|G	192|221;122	ENSP00000416770:A192G|.	.|.	A|R	+|+	2|1	0|2	CRLS1|CRLS1	5960658|5960658	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.973000|0.973000	0.67179|0.67179	0.826000|0.826000	0.27407|0.27407	-0.168000|-0.168000	0.10853|0.10853	-0.182000|-0.182000	0.12963|0.12963	GCG|CGA		0.303	CRLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077902.2	NM_019095	Missense_Mutation	Missense_Mutation
ZNF445	353274	broad.mit.edu	37	3	44496655	44496655	+	Missense_Mutation	SNP	C	C	G			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr3:44496655C>G	ENST00000396077.2	-	3	734	c.387G>C	c.(385-387)ttG>ttC	p.L129F	ZNF445_ENST00000425708.2_Missense_Mutation_p.L129F	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	129	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L129F(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GCTCCTCCAGCAAGGCCACAG	0.607																																																1	Substitution - Missense(1)	ovary(1)	3											66.0	59.0	61.0					3																	44496655		2203	4300	6503	44471659	SO:0001583	missense	353274			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.387G>C	3.37:g.44496655C>G	ENSP00000379387:p.Leu129Phe		44471659	Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	CCDS2713.1	SNP	25	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.74|15.74	2.923856|2.923856	0.52653|0.52653	.|.	.|.	ENSG00000185219|ENSG00000185219	ENST00000340674;ENST00000430301|ENST00000425708;ENST00000396077	.|T;T	.|0.08720	.|3.06;3.06	4.45|4.45	3.5|3.5	0.40072|0.40072	.|Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.|0.256400	.|0.20601	.|N	.|0.089145	T|T	0.25791|0.25791	0.0628|0.0628	M|M	0.81239|0.81239	2.535|2.535	0.35391|0.35391	D|D	0.790759|0.790759	.|D;D	.|0.69078	.|0.997;0.997	.|D;D	.|0.68483	.|0.958;0.958	T|T	0.20338|0.20338	-1.0278|-1.0278	6|10	0.72032|0.72032	D|D	0.01|0.01	.|.	9.1895|9.1895	0.37191|0.37191	0.2164:0.7836:0.0:0.0|0.2164:0.7836:0.0:0.0	.|.	.|129;129	.|B7ZKX2;P59923	.|.;ZN445_HUMAN	S|F	125;128|129	.|ENSP00000413073:L129F;ENSP00000379387:L129F	ENSP00000342436:C125S|ENSP00000379387:L129F	C|L	-|-	2|3	0|2	ZNF445|ZNF445	44471659|44471659	0.740000|0.740000	0.28207|0.28207	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	0.589000|0.589000	0.23939|0.23939	2.478000|2.478000	0.83669|0.83669	0.563000|0.563000	0.77884|0.77884	TGC|TTG		0.607	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489		Missense_Mutation
COL6A6	131873	broad.mit.edu	37	3	130282256	130282256	+	Missense_Mutation	SNP	G	G	C			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr3:130282256G>C	ENST00000358511.6	+	2	440	c.409G>C	c.(409-411)Gtc>Ctc	p.V137L	COL6A6_ENST00000453409.2_Missense_Mutation_p.V137L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	137	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.V137L(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AATTCTAGTGGTCCTGGCTTC	0.502																																																1	Substitution - Missense(1)	ovary(1)	3											45.0	45.0	45.0					3																	130282256		1903	4116	6019	131764946	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.409G>C	3.37:g.130282256G>C	ENSP00000351310:p.Val137Leu		131764946	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	SNP	44	Broad	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700238	0.68501	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.73897	-0.79;-0.79	5.21	5.21	0.72293	von Willebrand factor, type A (3);	0.000000	0.52532	D	0.000070	T	0.74981	0.3788	L	0.39467	1.215	0.37982	D	0.933627	D	0.52996	0.957	P	0.54401	0.751	T	0.73675	-0.3908	10	0.24483	T	0.36	.	14.7195	0.69294	0.0:0.0:0.8546:0.1454	.	137	A6NMZ7	CO6A6_HUMAN	L	137	ENSP00000351310:V137L;ENSP00000399236:V137L	ENSP00000351310:V137L	V	+	1	0	COL6A6	131764946	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	4.962000	0.63687	2.585000	0.87301	0.561000	0.74099	GTC		0.502	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		Missense_Mutation
MME	4311	broad.mit.edu	37	3	154864982	154864982	+	Missense_Mutation	SNP	A	A	G			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr3:154864982A>G	ENST00000460393.1	+	15	1586	c.1466A>G	c.(1465-1467)aAt>aGt	p.N489S	MME_ENST00000462745.1_Missense_Mutation_p.N489S|MME_ENST00000492661.1_Missense_Mutation_p.N489S|MME_ENST00000493237.1_Missense_Mutation_p.N489S|MME_ENST00000360490.2_Missense_Mutation_p.N489S	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	489					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.N489S(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	ATTGTTTCAAATGATAACAAA	0.323																																																1	Substitution - Missense(1)	ovary(1)	3											81.0	86.0	84.0					3																	154864982		2203	4300	6503	156347676	SO:0001583	missense	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1466A>G	3.37:g.154864982A>G	ENSP00000418525:p.Asn489Ser		156347676	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1	SNP	4	Broad	.	.	.	.	.	.	.	.	.	.	A	14.99	2.700926	0.48307	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53;-1.53	5.84	5.84	0.93424	.	0.323933	0.37012	N	0.002283	T	0.78240	0.4252	L	0.52905	1.665	0.21386	N	0.999707	B	0.12013	0.005	B	0.08055	0.003	T	0.69960	-0.5003	10	0.62326	D	0.03	-22.9121	16.2159	0.82217	1.0:0.0:0.0:0.0	.	489	P08473	NEP_HUMAN	S	489	ENSP00000420389:N489S;ENSP00000418525:N489S;ENSP00000419653:N489S;ENSP00000417079:N489S;ENSP00000353679:N489S	ENSP00000353679:N489S	N	+	2	0	MME	156347676	0.985000	0.35326	0.056000	0.19401	0.922000	0.55478	7.365000	0.79537	2.243000	0.73865	0.533000	0.62120	AAT		0.323	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		Missense_Mutation
MB21D2	151963	broad.mit.edu	37	3	192517157	192517157	+	Missense_Mutation	SNP	C	C	G			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr3:192517157C>G	ENST00000392452.2	-	2	814	c.494G>C	c.(493-495)tGc>tCc	p.C165S		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	165							protein complex binding (GO:0032403)	p.C163S(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TACAATGGTGCAGCAGTCTTT	0.493																																																1	Substitution - Missense(1)	ovary(1)	3											87.0	86.0	87.0					3																	192517157		2203	4300	6503	193999851	SO:0001583	missense	151963			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.494G>C	3.37:g.192517157C>G	ENSP00000376246:p.Cys165Ser		193999851	Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	CCDS3302.2	SNP	25	Broad	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837180	0.71373	.	.	ENSG00000180611	ENST00000392452	T	0.47177	0.85	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	M	0.63428	1.95	0.80722	D	1	D	0.54772	0.968	D	0.69824	0.966	T	0.57528	-0.7796	10	0.20046	T	0.44	.	18.6978	0.91607	0.0:1.0:0.0:0.0	.	165	Q8IYB1	M21D2_HUMAN	S	165	ENSP00000376246:C165S	ENSP00000376246:C165S	C	-	2	0	MB21D2	193999851	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.652000	0.90054	0.655000	0.94253	TGC		0.493	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		Missense_Mutation
PPA2	27068	broad.mit.edu	37	4	106374784	106374784	+	Missense_Mutation	SNP	T	T	C	rs138556360		TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr4:106374784T>C	ENST00000341695.5	-	3	268	c.238A>G	c.(238-240)Atg>Gtg	p.M80V	PPA2_ENST00000432483.2_Intron|PPA2_ENST00000380004.2_Missense_Mutation_p.M80V|PPA2_ENST00000348706.5_Missense_Mutation_p.M80V|PPA2_ENST00000357415.4_Missense_Mutation_p.M95V|PPA2_ENST00000509426.1_5'UTR|PPA2_ENST00000310267.7_Start_Codon_SNP_p.M1V|PPA2_ENST00000354147.3_Intron	NM_176869.2	NP_789845.1	Q9H2U2	IPYR2_HUMAN	pyrophosphatase (inorganic) 2	80					diphosphate metabolic process (GO:0071344)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|protein serine/threonine phosphatase activity (GO:0004722)	p.M80V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		GCTTTCTTCATAGGAATGCCA	0.303													T|||	1	0.000199681	0.0	0.0	5008	,	,		18679	0.001		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	4											80.0	82.0	81.0					4																	106374784		2201	4299	6500	106594233	SO:0001583	missense	27068				CCDS3667.1, CCDS3668.2, CCDS3669.2, CCDS34043.1	4q25	2005-10-07			ENSG00000138777	ENSG00000138777			28883	protein-coding gene	gene with protein product		609988				11042152	Standard	NM_176869		Approved	FLJ20459	uc003hxl.3	Q9H2U2	OTTHUMG00000128781	ENST00000341695.5:c.238A>G	4.37:g.106374784T>C	ENSP00000343885:p.Met80Val		106594233	B4DLP7|F8WDN9|I6L9B6|Q4W5E9|Q6PG51|Q8TBW0|Q96E55|Q9H0T0|Q9NX37|Q9P033|Q9ULX0	Missense_Mutation	SNP	ENST00000341695.5	37	CCDS3667.1	SNP	49	Broad	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	6.037	0.375201	0.11409	.	.	ENSG00000138777	ENST00000341695;ENST00000348706;ENST00000357415;ENST00000380004;ENST00000310267;ENST00000504028;ENST00000502596	T;T;T;T	0.40225	1.06;1.04;1.08;1.24	5.18	3.92	0.45320	.	0.308493	0.34750	N	0.003718	T	0.16727	0.0402	N	0.08118	0	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.11916	-1.0568	10	0.10377	T	0.69	-5.201	3.7465	0.08549	0.0:0.1686:0.1977:0.6337	.	80;80;80	Q9H2U2-3;E2QRM6;Q9H2U2	.;.;IPYR2_HUMAN	V	80;80;95;80;1;75;1	ENSP00000343885:M80V;ENSP00000313061:M80V;ENSP00000349996:M95V;ENSP00000369340:M80V	ENSP00000311150:M1V	M	-	1	0	PPA2	106594233	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	1.038000	0.30254	1.954000	0.56735	0.455000	0.32223	ATG		0.303	PPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250704.4	NM_176869		Missense_Mutation
ADCY2	108	broad.mit.edu	37	5	7414689	7414689	+	Missense_Mutation	SNP	G	G	T			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr5:7414689G>T	ENST00000338316.4	+	2	303	c.214G>T	c.(214-216)Gtt>Ttt	p.V72F		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	72					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.V72F(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCCTCAGGAAGTTGAAGACCA	0.378																																																1	Substitution - Missense(1)	ovary(1)	5											210.0	203.0	205.0					5																	7414689		2203	4300	6503	7467689	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.214G>T	5.37:g.7414689G>T	ENSP00000342952:p.Val72Phe		7467689	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	SNP	36	Broad	.	.	.	.	.	.	.	.	.	.	G	5.255	0.232508	0.09969	.	.	ENSG00000078295	ENST00000338316	T	0.76839	-1.05	4.84	3.95	0.45737	.	0.423920	0.23894	N	0.043507	T	0.58921	0.2156	N	0.22421	0.69	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51340	-0.8718	10	0.09338	T	0.73	.	8.7748	0.34756	0.1691:0.0:0.8309:0.0	.	72	Q08462	ADCY2_HUMAN	F	72	ENSP00000342952:V72F	ENSP00000342952:V72F	V	+	1	0	ADCY2	7467689	0.999000	0.42202	0.998000	0.56505	0.962000	0.63368	2.393000	0.44442	2.399000	0.81585	0.557000	0.71058	GTT		0.378	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		Missense_Mutation
PCDHB16	57717	broad.mit.edu	37	5	140563996	140563996	+	Missense_Mutation	SNP	A	A	G			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr5:140563996A>G	ENST00000361016.2	+	1	3017	c.1862A>G	c.(1861-1863)aAt>aGt	p.N621S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	621	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N621S(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGGCGCACAATGGCGAGGTG	0.692																																																1	Substitution - Missense(1)	ovary(1)	5											23.0	23.0	23.0					5																	140563996		1893	3868	5761	140544180	SO:0001583	missense	57717			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1862A>G	5.37:g.140563996A>G	ENSP00000354293:p.Asn621Ser		140544180	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	CCDS4251.1	SNP	4	Broad	.	.	.	.	.	.	.	.	.	.	a	15.27	2.784446	0.49997	.	.	ENSG00000196963	ENST00000361016	T	0.50277	0.75	4.22	1.82	0.25136	Cadherin (4);Cadherin-like (1);	0.210222	0.23758	N	0.044860	T	0.31199	0.0789	N	0.04959	-0.14	0.26812	N	0.968985	P	0.34826	0.471	P	0.46275	0.51	T	0.20107	-1.0285	10	0.56958	D	0.05	.	4.4302	0.11524	0.6525:0.1675:0.1799:0.0	.	621	Q9NRJ7	PCDBG_HUMAN	S	621	ENSP00000354293:N621S	ENSP00000354293:N621S	N	+	2	0	PCDHB16	140544180	0.000000	0.05858	0.987000	0.45799	0.989000	0.77384	-0.307000	0.08167	0.103000	0.17682	0.392000	0.25879	AAT		0.692	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		Missense_Mutation
MOG	4340	broad.mit.edu	37	6	29641174	29641174	+	IGR	SNP	C	C	G			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr6:29641174C>G	ENST00000376917.3	+	0	2160				ZFP57_ENST00000376883.1_Missense_Mutation_p.K218N|ZFP57_ENST00000376881.3_Missense_Mutation_p.K218N|ZFP57_ENST00000488757.1_Missense_Mutation_p.K238N	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K218N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CACAGTAGGTCTTGTCACAGA	0.572																																																1	Substitution - Missense(1)	ovary(1)	6											74.0	84.0	81.0					6																	29641174		1374	2605	3979	29749153	SO:0001628	intergenic_variant	346171				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099		6.37:g.29641174C>G			29749153	A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	CCDS34370.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804713	0.70682	.	.	ENSG00000204644	ENST00000488757;ENST00000376881;ENST00000376883	T;T;T	0.27890	1.64;1.64;1.64	4.55	3.67	0.42095	.	0.000000	0.48767	D	0.000162	T	0.47021	0.1423	M	0.84326	2.69	0.35002	D	0.75609	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.52983	-0.8502	10	0.87932	D	0	-24.7	10.3488	0.43922	0.0:0.9002:0.0:0.0998	.	238;218	Q9NU63-3;Q9NU63-2	.;.	N	238;218;218	ENSP00000418259:K238N;ENSP00000366078:K218N;ENSP00000366080:K218N	ENSP00000366078:K218N	K	-	3	2	ZFP57	29749153	0.579000	0.26725	1.000000	0.80357	0.984000	0.73092	0.448000	0.21726	2.502000	0.84385	0.563000	0.77884	AAG		0.572	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		Missense_Mutation
LPA	4018	broad.mit.edu	37	6	161015016	161015016	+	Silent	SNP	C	C	T			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr6:161015016C>T	ENST00000316300.5	-	22	3647	c.3603G>A	c.(3601-3603)caG>caA	p.Q1201Q	LPA_ENST00000447678.1_Silent_p.Q1201Q			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3709	Kringle 11. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.Q1201Q(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGTTGTCCTCTGATGCCAGT	0.473																																																1	Substitution - coding silent(1)	ovary(1)	6											145.0	145.0	145.0					6																	161015016		2029	4221	6250	160935006	SO:0001819	synonymous_variant	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3603G>A	6.37:g.161015016C>T			160935006	Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	CCDS43523.1	SNP	32	Broad																																																																																				0.473	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		Silent
WIPI2	26100	broad.mit.edu	37	7	5257579	5257579	+	Silent	SNP	C	C	T			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr7:5257579C>T	ENST00000288828.4	+	7	835	c.603C>T	c.(601-603)caC>caT	p.H201H	WIPI2_ENST00000484262.1_Silent_p.H142H|WIPI2_ENST00000404704.3_Silent_p.H201H|WIPI2_ENST00000382384.2_Silent_p.H183H|WIPI2_ENST00000401525.3_Silent_p.H183H	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	201					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.H201H(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TTCCGGCTCACGACAGTCCTT	0.582																																																1	Substitution - coding silent(1)	ovary(1)	7											198.0	173.0	181.0					7																	5257579		2203	4300	6503	5224105	SO:0001819	synonymous_variant	26100				CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.603C>T	7.37:g.5257579C>T			5224105	B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Silent	SNP	ENST00000288828.4	37	CCDS5339.1	SNP	19	Broad																																																																																				0.582	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	NM_015610		Silent
ABCB8	11194	broad.mit.edu	37	7	150741261	150741261	+	Missense_Mutation	SNP	C	C	A			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr7:150741261C>A	ENST00000297504.6	+	16	2086	c.2020C>A	c.(2020-2022)Cgt>Agt	p.R674S	ABCB8_ENST00000542328.1_Missense_Mutation_p.R569S|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000498578.1_Intron|ABCB8_ENST00000358849.4_Missense_Mutation_p.R657S			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	674	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.R657S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	CAGCACTGTCCGTGGGGCCCA	0.647																																																1	Substitution - Missense(1)	ovary(1)	7											93.0	71.0	79.0					7																	150741261		2203	4300	6503	150372194	SO:0001583	missense	11194			AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.2020C>A	7.37:g.150741261C>A	ENSP00000297504:p.Arg674Ser		150372194	A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37		SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	C	9.727	1.161133	0.21538	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328	T;T;T	0.77098	-1.07;-1.07;-1.07	4.74	4.74	0.60224	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.195384	0.47852	D	0.000210	T	0.63248	0.2495	N	0.16307	0.4	0.45704	D	0.99861	B;P;P	0.39576	0.383;0.679;0.643	B;B;B	0.39971	0.315;0.272;0.315	T	0.66488	-0.5911	10	0.56958	D	0.05	4.3938	9.0558	0.36405	0.0:0.9015:0.0:0.0985	.	569;674;657	G3XAP3;Q9NUT2;Q9NUT2-2	.;ABCB8_HUMAN;.	S	657;640;674;569	ENSP00000351717:R657S;ENSP00000297504:R674S;ENSP00000438776:R569S	ENSP00000297504:R674S	R	+	1	0	ABCB8	150372194	0.066000	0.20996	0.043000	0.18650	0.003000	0.03518	1.779000	0.38624	2.618000	0.88619	0.655000	0.94253	CGT		0.647	ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188		Missense_Mutation
KMT2C	58508	broad.mit.edu	37	7	151879516	151879516	+	Missense_Mutation	SNP	A	A	C			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr7:151879516A>C	ENST00000262189.6	-	36	5647	c.5429T>G	c.(5428-5430)tTg>tGg	p.L1810W	KMT2C_ENST00000355193.2_Missense_Mutation_p.L1810W	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1810					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L1810W(1)									CTGAGGTGTCAAGGGACTCTG	0.463																																																1	Substitution - Missense(1)	ovary(1)	7											231.0	225.0	227.0					7																	151879516		2203	4300	6503	151510449	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5429T>G	7.37:g.151879516A>C	ENSP00000262189:p.Leu1810Trp		151510449	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	SNP	5	Broad	.	.	.	.	.	.	.	.	.	.	A	13.26	2.184492	0.38609	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84298	-1.83;-1.83	5.41	4.26	0.50523	.	0.000000	0.32120	N	0.006551	D	0.86062	0.5843	N	0.22421	0.69	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.989	D	0.86445	0.1769	10	0.72032	D	0.01	.	11.1936	0.48700	0.9277:0.0:0.0723:0.0	.	1810;871	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	W	1810	ENSP00000262189:L1810W;ENSP00000347325:L1810W	ENSP00000262189:L1810W	L	-	2	0	MLL3	151510449	0.997000	0.39634	0.553000	0.28255	0.996000	0.88848	4.982000	0.63825	0.898000	0.36418	0.460000	0.39030	TTG		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			Missense_Mutation
IL11RA	3590	broad.mit.edu	37	9	34657128	34657128	+	Missense_Mutation	SNP	G	G	A	rs371329032		TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chr9:34657128G>A	ENST00000555003.1	+	5	1784	c.428G>A	c.(427-429)cGc>cAc	p.R143H	IL11RA_ENST00000478802.2_Intron|IL11RA_ENST00000318041.9_Missense_Mutation_p.R143H|IL11RA_ENST00000378817.4_Missense_Mutation_p.R143H|IL11RA_ENST00000602473.1_Missense_Mutation_p.R143H|IL11RA_ENST00000441545.2_Missense_Mutation_p.R143H			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	143	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)	p.R143H(1)		breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	TTACCCACCCGCTACCTCACC	0.572																																																1	Substitution - Missense(1)	ovary(1)	9						G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	96.0	88.0	90.0		428,428,428	5.2	1.0	9		90	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IL11RA	NM_001142784.1,NM_004512.3,NM_147162.1	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	143/423,143/423,143/391	34657128	1,13005	2203	4300	6503	34647128	SO:0001583	missense	3590			Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.428G>A	9.37:g.34657128G>A	ENSP00000450565:p.Arg143His		34647128	Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	ENST00000555003.1	37	CCDS6567.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031857	0.75504	0.0	1.16E-4	ENSG00000137070	ENST00000555003;ENST00000441545;ENST00000553620;ENST00000378817;ENST00000318041;ENST00000556531;ENST00000555981	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	5.22	5.22	0.72569	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.072800	0.07077	N	0.836425	T	0.61677	0.2366	M	0.66939	2.045	0.44309	D	0.997183	D	0.89917	1.0	D	0.74023	0.982	T	0.46665	-0.9175	10	0.56958	D	0.05	-16.2626	14.2807	0.66211	0.0:0.0:1.0:0.0	.	143	Q14626	I11RA_HUMAN	H	143;143;66;143;143;143;143	ENSP00000450565:R143H;ENSP00000394391:R143H;ENSP00000452207:R66H;ENSP00000368094:R143H;ENSP00000326500:R143H;ENSP00000451447:R143H;ENSP00000450640:R143H	ENSP00000326500:R143H	R	+	2	0	IL11RA	34647128	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.119000	0.41958	2.425000	0.82216	0.655000	0.94253	CGC		0.572	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410625.1	NM_001142784		Missense_Mutation
VGLL1	51442	broad.mit.edu	37	X	135631122	135631122	+	Missense_Mutation	SNP	G	G	A			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chrX:135631122G>A	ENST00000370634.3	+	3	759	c.589G>A	c.(589-591)Gga>Aga	p.G197R	MIR934_ENST00000401241.1_RNA	NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial-like family member 1	197					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.G197R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					CCAGATAGCTGGAAGCACAGG	0.557																																																1	Substitution - Missense(1)	ovary(1)	X											62.0	63.0	63.0					X																	135631122		2203	4300	6503	135458788	SO:0001583	missense	51442			AF137387	CCDS14658.1	Xq26.3	2014-03-03	2014-03-03		ENSG00000102243	ENSG00000102243			20985	protein-coding gene	gene with protein product		300583	"""vestigial like 1 (Drosophila)"""			10518497	Standard	NM_016267		Approved	TONDU, TDU	uc004ezy.3	Q99990	OTTHUMG00000022509	ENST00000370634.3:c.589G>A	X.37:g.135631122G>A	ENSP00000359668:p.Gly197Arg		135458788	Q5H915	Missense_Mutation	SNP	ENST00000370634.3	37	CCDS14658.1	SNP	47	Broad	.	.	.	.	.	.	.	.	.	.	G	6.146	0.395102	0.11638	.	.	ENSG00000102243	ENST00000370634	T	0.54479	0.57	5.61	3.81	0.43845	.	0.428673	0.24400	N	0.038858	T	0.45155	0.1328	N	0.20986	0.625	0.28259	N	0.924915	D	0.56035	0.974	P	0.52481	0.7	T	0.35051	-0.9804	10	0.49607	T	0.09	-3.2157	6.3174	0.21199	0.0959:0.0:0.7226:0.1815	.	197	Q99990	VGLL1_HUMAN	R	197	ENSP00000359668:G197R	ENSP00000359668:G197R	G	+	1	0	VGLL1	135458788	0.867000	0.29959	0.527000	0.27925	0.089000	0.18198	2.322000	0.43814	0.514000	0.28300	0.600000	0.82982	GGA		0.557	VGLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058493.1	NM_016267		Missense_Mutation
MTMR1	8776	broad.mit.edu	37	X	149905819	149905819	+	Missense_Mutation	SNP	T	T	A			TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	x	x	---			x	TCGA-31-1953-01	TCGA-31-1953-10	g.chrX:149905819T>A	ENST00000370390.3	+	11	1505	c.1348T>A	c.(1348-1350)Tct>Act	p.S450T	MTMR1_ENST00000544228.1_Missense_Mutation_p.S450T|MTMR1_ENST00000541925.1_Missense_Mutation_p.S356T|MTMR1_ENST00000538506.1_Missense_Mutation_p.S275T|MTMR1_ENST00000445323.2_Missense_Mutation_p.S458T|MTMR1_ENST00000451863.2_Missense_Mutation_p.S450T	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	450	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.S450T(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCTCACATCTCTGGCTAT	0.463																																																1	Substitution - Missense(1)	ovary(1)	X											161.0	137.0	145.0					X																	149905819		2203	4300	6503	149656477	SO:0001583	missense	8776			U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1348T>A	X.37:g.149905819T>A	ENSP00000359417:p.Ser450Thr		149656477	A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	CCDS14695.1	SNP	50	Broad	.	.	.	.	.	.	.	.	.	.	T	13.43	2.235399	0.39498	.	.	ENSG00000063601	ENST00000541925;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85;-3.85;-3.85	4.88	-0.915	0.10494	Myotubularin phosphatase domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.277370	0.41605	D	0.000845	D	0.95421	0.8513	M	0.92880	3.355	0.20926	N	0.999826	B;P	0.44659	0.212;0.84	B;B	0.38616	0.277;0.252	D	0.90387	0.4392	10	0.66056	D	0.02	.	15.4304	0.75092	0.0:0.0:0.6168:0.3832	.	450;458	Q13613;F8WA39	MTMR1_HUMAN;.	T	356;450;458;450;450;275	ENSP00000441879:S356T;ENSP00000359417:S450T;ENSP00000414178:S458T;ENSP00000440534:S450T;ENSP00000387446:S450T;ENSP00000443444:S275T	ENSP00000359417:S450T	S	+	1	0	MTMR1	149656477	0.997000	0.39634	0.030000	0.17652	0.986000	0.74619	2.816000	0.48026	-0.576000	0.05974	0.441000	0.28932	TCT		0.463	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789		Missense_Mutation
TP53	7157	broad.mit.edu	37	17	7579362	7579396	+	Frame_Shift_Del	DEL	AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG	AACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG	-	rs587781504|rs587782461|rs368771578|rs587782447|rs587783063		TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-31-1953-01	TCGA-31-1953-10	g.chr17:7579362_7579396delAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG	ENST00000269305.4	-	4	480_514	c.291_325delCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTT	c.(289-327)gtcccttcccagaaaacctaccagggcagctacggtttcfs	p.PSQKTYQGSYGF98fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.PSQKTYQGSYGF98fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PSQKTYQGSYGF98fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.PSQKTYQGSYGF98fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.PSQKTYQGSYGF98fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Del_p.PSQKTYQGSYGF98fs	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	98	Interaction with WWOX.		P -> L (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y107D(13)|p.Q100*(12)|p.Q104*(12)|p.Y107*(10)|p.Y103*(10)|p.0?(8)|p.T102I(7)|p.G105C(5)|p.K101*(4)|p.P98S(4)|p.G105D(4)|p.S99fs*48(3)|p.Y107Y(3)|p.V97V(3)|p.Q100fs*37(3)|p.G59fs*23(3)|p.F109fs*16(3)|p.G105fs*18(3)|p.K101R(3)|p.P98L(3)|p.S106R(3)|p.S99fs*23(3)|p.Y103fs*19(3)|p.T102fs*21(3)|p.K101_Y103>N(3)|p.G105R(2)|p.G108_F109delGF(2)|p.G108del(2)|p.S99F(2)|p.F109_R110delFR(2)|p.Q104fs*19(1)|p.Y107fs*38(1)|p.P98fs*26(1)|p.Y107Q(1)|p.?fs(1)|p.G108S(1)|p.G105S(1)|p.W91fs*13(1)|p.Y107C(1)|p.G108D(1)|p.G108G(1)|p.V73fs*9(1)|p.S106fs*17(1)|p.G105V(1)|p.S99P(1)|p.Y107fs*44(1)|p.Y103_Q104>**(1)|p.S33fs*23(1)|p.G105G(1)|p.S106_Y107delSY(1)|p.G108fs*41(1)|p.?_?ins?(1)|p.K101N(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.G108fs*15(1)|p.Y103Y(1)|p.F109V(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)|p.G105_T125del21(1)|p.K101fs*48(1)|p.Q104H(1)|p.Q104L(1)|p.S99fs*24(1)|p.G105A(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)	CCCAGACGGAAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGGACAGAAGATG	0.63		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)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	177	Substitution - Missense(58)|Substitution - Nonsense(48)|Deletion - Frameshift(32)|Substitution - coding silent(9)|Deletion - In frame(8)|Whole gene deletion(8)|Insertion - Frameshift(7)|Complex - deletion inframe(5)|Insertion - In frame(1)|Complex - compound substitution(1)	lung(24)|haematopoietic_and_lymphoid_tissue(23)|breast(21)|skin(14)|large_intestine(13)|urinary_tract(13)|ovary(12)|upper_aerodigestive_tract(10)|adrenal_gland(8)|central_nervous_system(8)|prostate(6)|oesophagus(4)|pancreas(4)|bone(4)|stomach(3)|kidney(3)|biliary_tract(3)|liver(2)|cervix(1)|eye(1)	17	GRCh37	CM013441|CM043949|CM073388	TP53	M																																				7520121	SO:0001589	frameshift_variant	7157	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;	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.291_325delCCCTTCCCAGAAAACCTACCAGGGCAGCTACGGTT	17.37:g.7579362_7579396delAACCGTAGCTGCCCTGGTAGGTTTTCTGGGAAGGG	ENSP00000269305:p.Pro98fs		7520087	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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1	DEL	1	Broad																																																																																				0.630	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Frame_Shift_Del
ALMS1	7840	broad.mit.edu	37	2	73613032	73613037	+	In_Frame_Del	DEL	GGAGGA	GGAGGA	-	rs61156725|rs70965731|rs72319667|rs3074417	byFrequency	TCGA-31-1953-01	TCGA-31-1953-10							Unknown	Unknown	Unknown	Phase_I	Capture	---			Illumina GAIIx	TCGA-31-1953-01	TCGA-31-1953-10	g.chr2:73613032_73613037delGGAGGA	ENST00000264448.6	+	1	147_152	c.36_41delGGAGGA	c.(34-42)ctggaggag>ctg	p.EE27del	ALMS1_ENST00000377715.1_In_Frame_Del_p.EE27del|ALMS1_ENST00000409009.1_In_Frame_Del_p.EE27del	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	27	Glu-rich.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.E27_E28delEE(1)|p.E28_A29insE(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CGGGCGAGCTggaggaggaggaggag	0.694														3836	0.765974	0.9183	0.7176	5008	,	,		6363	0.7024		0.6819	False		,,,				2504	0.7464															2	Insertion - In frame(1)|Deletion - In frame(1)	ovary(1)|breast(1)	2																																								73466545	SO:0001651	inframe_deletion	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.36_41delGGAGGA	2.37:g.73613038_73613043delGGAGGA	ENSP00000264448:p.Glu27_Glu28del		73466540	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	In_Frame_Del	DEL	ENST00000264448.6	37	CCDS42697.1	DEL	47	Broad																																																																																				0.694	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		In_Frame_Del
