#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SPATA4	132851	broad.mit.edu	37	4	177113947	177113947	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr4:177113947C>A	ENST00000280191.2	-	4	627	c.519G>T	c.(517-519)caG>caT	p.Q173H	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	173						cytoplasm (GO:0005737)				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		GTAAACGCATCTGGTAGCTAT	0.353																																						ENST00000280191.2																			0				NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22						c.(517-519)caG>caT		spermatogenesis associated 4							64.0	63.0	63.0					4																	177113947		2203	4300	6503	SO:0001583	missense	132851				apoptosis|spermatogenesis			g.chr4:177113947C>A	AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.519G>T	4.37:g.177113947C>A	ENSP00000280191:p.Gln173His					SPATA4_ENST00000515234.1_5'UTR	p.Q173H	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)	4	627	-		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)	173					Q8NCS5|Q8WW15	Missense_Mutation	SNP	ENST00000280191.2	37	c.519G>T	CCDS3826.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962283	0.53400	.	.	ENSG00000150628	ENST00000280191	T	0.23950	1.88	5.27	3.52	0.40303	.	0.000000	0.85682	D	0.000000	T	0.49864	0.1582	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.51100	-0.8748	10	0.87932	D	0	-13.2162	9.9326	0.41532	0.0:0.8384:0.0:0.1616	.	173	Q8NEY3	SPAT4_HUMAN	H	173	ENSP00000280191:Q173H	ENSP00000280191:Q173H	Q	-	3	2	SPATA4	177350941	0.956000	0.32656	0.995000	0.50966	0.688000	0.40055	0.479000	0.22228	0.699000	0.31761	0.655000	0.94253	CAG		0.353	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362326.1	NM_144644		9	41	1	0	5.4927e-09	1	5.93806e-09	9	41				
DHFR	1719	broad.mit.edu	37	5	79945214	79945214	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr5:79945214T>C	ENST00000439211.2	-	3	729	c.236A>G	c.(235-237)gAa>gGa	p.E79G	DHFR_ENST00000505337.1_Missense_Mutation_p.E79G|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000511032.1_Missense_Mutation_p.E79G|DHFR_ENST00000504396.1_Missense_Mutation_p.E27G	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	79	DHFR. {ECO:0000255|PROSITE- ProRule:PRU00660}.				folic acid metabolic process (GO:0046655)|G1/S transition of mitotic cell cycle (GO:0000082)|glycine biosynthetic process (GO:0006545)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|nucleotide biosynthetic process (GO:0009165)|one-carbon metabolic process (GO:0006730)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to methotrexate (GO:0031427)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)|tetrahydrofolate metabolic process (GO:0046653)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	dihydrofolate reductase activity (GO:0004146)|drug binding (GO:0008144)|mRNA binding (GO:0003729)|NADP binding (GO:0050661)			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Pralatrexate(DB06813)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TTACTTGAGTTCTCTGCTGAG	0.348																																						ENST00000439211.2																			0				kidney(1)|large_intestine(1)	2						c.(235-237)gAa>gGa		dihydrofolate reductase	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)						53.0	52.0	52.0					5																	79945214		2105	4260	6365	SO:0001583	missense	1719				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding	g.chr5:79945214T>C		CCDS47240.1	5q11.2-q13.2	2012-10-02			ENSG00000228716	ENSG00000228716	1.5.1.3		2861	protein-coding gene	gene with protein product		126060					Standard	XM_005248455		Approved		uc003kgy.1	P00374	OTTHUMG00000162529	ENST00000439211.2:c.236A>G	5.37:g.79945214T>C	ENSP00000396308:p.Glu79Gly					DHFR_ENST00000511032.1_Missense_Mutation_p.E79G|DHFR_ENST00000505337.1_Missense_Mutation_p.E79G|DHFR_ENST00000504396.1_Missense_Mutation_p.E27G|DHFR_ENST00000513048.1_5'UTR	p.E79G	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	3	729	-		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)	79			DHFR.		B4DDD2|Q14130|Q6IRW8	Missense_Mutation	SNP	ENST00000439211.2	37	c.236A>G	CCDS47240.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.369248	0.42003	.	.	ENSG00000228716	ENST00000439211;ENST00000505337;ENST00000511032;ENST00000504396	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.41	4.24	0.50183	Dihydrofolate reductase domain (2);Dihydrofolate reductase-like domain (2);	.	.	.	.	T	0.63426	0.2510	L	0.53729	1.69	0.45318	D	0.998316	B;B;B	0.13145	0.007;0.002;0.002	B;B;B	0.17979	0.02;0.001;0.001	T	0.56032	-0.8046	8	.	.	.	-2.3361	10.5451	0.45056	0.0:0.0781:0.0:0.9219	.	79;79;79	B4DM58;P00374;B0YJ76	.;DYR_HUMAN;.	G	79;79;79;27	ENSP00000396308:E79G;ENSP00000426474:E79G;ENSP00000422732:E79G;ENSP00000421334:E27G	.	E	-	2	0	DHFR	79980970	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	4.216000	0.58540	0.871000	0.35750	0.455000	0.32223	GAA		0.348	DHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369450.1	NM_000791		4	27	0	0	0	1	0	4	27				
HECTD4	283450	broad.mit.edu	37	12	112600941	112600941	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr12:112600941C>T	ENST00000430131.2	-	74	12904	c.11759G>A	c.(11758-11760)cGc>cAc	p.R3920H	HECTD4_ENST00000549141.1_5'Flank|HECTD4_ENST00000550722.1_Missense_Mutation_p.R4196H|HECTD4_ENST00000377560.5_Missense_Mutation_p.R4170H			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3920	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R4170H(1)|p.R3920H(1)									GAACGGGATGCGCTCCTGGTT	0.612																																						ENST00000550722.1																			2	Substitution - Missense(2)	p.R4170H(1)|p.R3920H(1)	large_intestine(2)								c.(12586-12588)cGc>cAc		HECT domain containing E3 ubiquitin protein ligase 4							97.0	110.0	106.0					12																	112600941		2080	4205	6285	SO:0001583	missense	283450							g.chr12:112600941C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11759G>A	12.37:g.112600941C>T	ENSP00000404379:p.Arg3920His					HECTD4_ENST00000430131.2_Missense_Mutation_p.R3920H|HECTD4_ENST00000377560.5_Missense_Mutation_p.R4170H	p.R4196H	NM_001109662.3	NP_001103132.3					75	12982	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.12587G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.491109	0.96339	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	T;T;T	0.63580	-0.05;-0.05;-0.05	5.8	5.8	0.92144	HECT (4);	0.000000	0.85682	D	0.000000	D	0.83027	0.5165	M	0.87827	2.91	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.85041	0.0923	10	0.87932	D	0	.	20.0537	0.97638	0.0:1.0:0.0:0.0	.	3920	Q9Y4D8	K0614_HUMAN	H	4170;3920;4196;385	ENSP00000366783:R4170H;ENSP00000404379:R3920H;ENSP00000449784:R4196H	ENSP00000366783:R4170H	R	-	2	0	C12orf51	111085324	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.372000	0.79612	2.758000	0.94735	0.561000	0.74099	CGC		0.612	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		4	166	0	0	0	1	0	4	166				
GALR2	8811	broad.mit.edu	37	17	74071243	74071243	+	Silent	SNP	C	C	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr17:74071243C>T	ENST00000329003.3	+	1	369	c.279C>T	c.(277-279)ttC>ttT	p.F93F	SRP68_ENST00000539137.1_5'Flank|SRP68_ENST00000307877.2_5'Flank|SRP68_ENST00000355113.5_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	93					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCTGGGTGTTCGGCTCGCTGC	0.632																																						ENST00000329003.3																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(277-279)ttC>ttT		galanin receptor 2							121.0	84.0	96.0					17																	74071243		2203	4300	6503	SO:0001819	synonymous_variant	8811				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity	g.chr17:74071243C>T	AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.279C>T	17.37:g.74071243C>T							p.F93F	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN			1	369	+			93					A5JUU4|Q32MN8	Silent	SNP	ENST00000329003.3	37	c.279C>T	CCDS11739.1																																																																																				0.632	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394760.1			11	101	0	0	0	1	0	11	101				
APBB2	323	broad.mit.edu	37	4	40818255	40818255	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr4:40818255C>A	ENST00000295974.8	-	18	2760	c.2131G>T	c.(2131-2133)Gta>Tta	p.V711L	APBB2_ENST00000502841.1_Missense_Mutation_p.V163L|APBB2_ENST00000513140.1_Missense_Mutation_p.V689L|APBB2_ENST00000508593.1_Missense_Mutation_p.V712L|APBB2_ENST00000543538.1_Missense_Mutation_p.V163L|APBB2_ENST00000504305.1_Missense_Mutation_p.V163L|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000506352.1_Missense_Mutation_p.V690L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	711	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGCCTGGCTACCAAGCACTTC	0.403																																					Ovarian(3;20 75 16686 49997)	ENST00000295974.8																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						c.(2131-2133)Gta>Tta		amyloid beta (A4) precursor protein-binding, family B, member 2							118.0	116.0	116.0					4																	40818255		1936	4130	6066	SO:0001583	missense	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:40818255C>A	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.2131G>T	4.37:g.40818255C>A	ENSP00000295974:p.Val711Leu					APBB2_ENST00000504305.1_Missense_Mutation_p.V163L|APBB2_ENST00000513140.1_Missense_Mutation_p.V689L|APBB2_ENST00000508593.1_Missense_Mutation_p.V712L|APBB2_ENST00000506352.1_Missense_Mutation_p.V690L|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000543538.1_Missense_Mutation_p.V163L|APBB2_ENST00000502841.1_Missense_Mutation_p.V163L	p.V711L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN			18	2760	-			711			PID 2.		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	c.2131G>T	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.31|16.31	3.087084|3.087084	0.55861|0.55861	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000513611|ENST00000295974;ENST00000316212;ENST00000543538;ENST00000513140;ENST00000508593;ENST00000502841;ENST00000506352;ENST00000504305	.|T;T;T;T;T;T;T	.|0.19669	.|2.13;2.13;2.13;2.13;2.13;2.13;2.13	5.41|5.41	5.41|5.41	0.78517|0.78517	.|Phosphotyrosine interaction domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.46814|0.46814	0.1412|0.1412	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.998;0.996;0.999	.|D;D;D	.|0.85130	.|0.997;0.957;0.997	T|T	0.38351|0.38351	-0.9665|-0.9665	5|10	.|0.59425	.|D	.|0.04	-11.8582|-11.8582	19.2326|19.2326	0.93846|0.93846	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|712;689;711	.|E9PG87;Q92870-2;Q92870	.|.;.;APBB2_HUMAN	V|L	680|711;710;163;689;712;163;690;163	.|ENSP00000295974:V711L;ENSP00000439357:V163L;ENSP00000426018:V689L;ENSP00000427211:V712L;ENSP00000425802:V163L;ENSP00000421539:V690L;ENSP00000423765:V163L	.|ENSP00000295974:V711L	G|V	-|-	2|1	0|0	APBB2|APBB2	40513012|40513012	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.014000|0.014000	0.08584|0.08584	7.818000|7.818000	0.86416|0.86416	2.538000|2.538000	0.85594|0.85594	0.650000|0.650000	0.86243|0.86243	GGT|GTA		0.403	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		18	98	1	0	5.03518e-11	1	5.7545e-11	18	98				
SHANK1	50944	broad.mit.edu	37	19	51190015	51190015	+	Missense_Mutation	SNP	T	T	C			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr19:51190015T>C	ENST00000293441.1	-	19	2462	c.2444A>G	c.(2443-2445)tAt>tGt	p.Y815C	SHANK1_ENST00000359082.3_Missense_Mutation_p.Y806C|SHANK1_ENST00000391814.1_Missense_Mutation_p.Y823C|SHANK1_ENST00000391813.1_Missense_Mutation_p.Y202C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	815					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGCCATCTGATACACGGTCCG	0.687																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(2443-2445)tAt>tGt		SH3 and multiple ankyrin repeat domains 1							47.0	46.0	46.0					19																	51190015		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51190015T>C	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2444A>G	19.37:g.51190015T>C	ENSP00000293441:p.Tyr815Cys					SHANK1_ENST00000391814.1_Missense_Mutation_p.Y823C|SHANK1_ENST00000391813.1_Missense_Mutation_p.Y202C|SHANK1_ENST00000359082.3_Missense_Mutation_p.Y806C	p.Y815C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	19	2462	-		all_neural(266;0.057)	815					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.2444A>G	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.825907	0.50739	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	3.43	3.43	0.39272	.	0.740232	0.11673	U	0.540654	T	0.56093	0.1962	L	0.47716	1.5	0.49687	D	0.99981	D;D	0.89917	0.999;1.0	D;D	0.87578	0.995;0.998	T	0.50466	-0.8825	10	0.45353	T	0.12	-5.0535	11.2886	0.49237	0.0:0.0:0.0:1.0	.	815;202	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	C	815;202;806;823	ENSP00000293441:Y815C;ENSP00000375689:Y202C;ENSP00000351984:Y806C;ENSP00000375690:Y823C	ENSP00000293441:Y815C	Y	-	2	0	SHANK1	55881827	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.680000	0.61656	1.562000	0.49601	0.391000	0.25812	TAT		0.687	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		4	55	0	0	0	1	0	4	55				
KRTAP4-9	100132386	broad.mit.edu	37	17	39262039	39262039	+	Missense_Mutation	SNP	C	C	G	rs370251849		TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr17:39262039C>G	ENST00000391415.1	+	1	456	c.399C>G	c.(397-399)agC>agG	p.S133R		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	133	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S133R(1)|p.S121R(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						gtgtgtccagctgctgcaagc	0.652																																						ENST00000391415.1																			2	Substitution - Missense(2)	p.S133R(1)|p.S121R(1)	lung(2)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(397-399)agC>agG		keratin associated protein 4-9							7.0	13.0	11.0					17																	39262039		676	1567	2243	SO:0001583	missense	100132386					keratin filament		g.chr17:39262039C>G	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.399C>G	17.37:g.39262039C>G	ENSP00000375234:p.Ser133Arg						p.S133R	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	456	+			133			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Missense_Mutation	SNP	ENST00000391415.1	37	c.399C>G	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	12.64	1.997952	0.35226	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.38401	1.14	3.32	2.33	0.28932	.	11.718500	0.01159	U	0.006593	T	0.54679	0.1873	M	0.78223	2.4	0.32657	N	0.518627	P	0.49307	0.922	P	0.54100	0.742	T	0.30149	-0.9988	10	0.54805	T	0.06	.	5.7349	0.18061	0.0:0.7348:0.0:0.2652	.	133	Q9BYQ8	KRA49_HUMAN	R	121;133;124	ENSP00000375234:S133R	ENSP00000334461:S124R	S	+	3	2	KRTAP4-9	36515565	0.828000	0.29307	0.682000	0.30024	0.211000	0.24417	0.599000	0.24089	0.501000	0.28013	0.306000	0.20318	AGC		0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		3	39	0	0	0	1	0	3	39				
SLC45A1	50651	broad.mit.edu	37	1	8399632	8399632	+	Silent	SNP	C	C	A	rs140511753	byFrequency	TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr1:8399632C>A	ENST00000471889.1	+	8	2239	c.1854C>A	c.(1852-1854)acC>acA	p.T618T	SLC45A1_ENST00000289877.8_Silent_p.T618T|SLC45A1_ENST00000377479.2_Silent_p.T652T			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	618					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTGGGGACCGGGCTTGCCA	0.597																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(1852-1854)acC>acA		solute carrier family 45, member 1							166.0	149.0	155.0					1																	8399632		2203	4300	6503	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8399632C>A	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1854C>A	1.37:g.8399632C>A						SLC45A1_ENST00000377479.2_Silent_p.T652T|SLC45A1_ENST00000289877.8_Silent_p.T618T	p.T618T			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	8	2239	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	618					Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.1854C>A	CCDS30577.1																																																																																				0.597	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			4	164	1	0	0.150653	1	0.150653	4	164				
CROCCP3	114819	broad.mit.edu	37	1	16812982	16812982	+	RNA	SNP	A	A	C			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr1:16812982A>C	ENST00000263511.4	-	0	1329					NR_023386.1		Q8IVE0	CROL2_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 3						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGGTCCTTCTAGTGGAGCACC	0.667																																						ENST00000263511.4																			0																																																			0							g.chr1:16812982A>C	AB067509		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000080947	ENSG00000080947			29405	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 2"""	CROCCL2		11572484	Standard	NR_023386		Approved	KIAA1922	uc001ayt.2	Q8IVE0	OTTHUMG00000037885		1.37:g.16812982A>C								NR_023386.1						0	1329	-								Q96PW6	RNA	SNP	ENST00000263511.4	37																																																																																						0.667	CROCCP3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000458172.1	XM_057040		4	7	0	0	0	1	0	4	7				
CNTRL	11064	broad.mit.edu	37	9	123875999	123875999	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr9:123875999G>A	ENST00000373855.1	+	10	1602	c.1342G>A	c.(1342-1344)Gca>Aca	p.A448T	CNTRL_ENST00000238341.5_Missense_Mutation_p.A448T|CNTRL_ENST00000373865.2_Missense_Mutation_p.A448T			Q7Z7A1	CNTRL_HUMAN	centriolin	448					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAAAATAAGTGCAGGttaaaa	0.308																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(1342-1344)Gca>Aca		centriolin							24.0	24.0	24.0					9																	123875999		2202	4293	6495	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123875999G>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1342G>A	9.37:g.123875999G>A	ENSP00000362962:p.Ala448Thr					CNTRL_ENST00000238341.5_Missense_Mutation_p.A448T|CNTRL_ENST00000373865.2_Missense_Mutation_p.A448T	p.A448T			Q7Z7A1	CNTRL_HUMAN			10	1602	+			448					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.1342G>A	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928865	0.52759	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.25749	1.78;1.78	6.16	3.22	0.36961	.	.	.	.	.	T	0.23532	0.0569	M	0.64997	1.995	0.34847	D	0.741257	B;B	0.14805	0.011;0.007	B;B	0.19946	0.027;0.007	T	0.14811	-1.0459	8	.	.	.	.	5.7362	0.18067	0.1549:0.0:0.5739:0.2711	.	448;448	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	T	448	ENSP00000362962:A448T;ENSP00000238341:A448T	.	A	+	1	0	CNTRL	122915820	0.372000	0.25064	0.955000	0.39395	0.888000	0.51559	0.178000	0.16820	0.405000	0.25532	0.650000	0.86243	GCA		0.308	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		8	34	0	0	0	1	0	8	34				
PCDHA7	56141	broad.mit.edu	37	5	140215321	140215321	+	Silent	SNP	C	C	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr5:140215321C>T	ENST00000525929.1	+	1	1353	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.N451N|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	451	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCCCCGGCGT	0.677																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1351-1353)aaC>aaT									65.0	69.0	68.0					5																	140215321		2203	4298	6501	SO:0001819	synonymous_variant	0							g.chr5:140215321C>T	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1353C>T	5.37:g.140215321C>T						PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Silent_p.N451N	p.N451N	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1353	+								O75282	Silent	SNP	ENST00000525929.1	37	c.1353C>T	CCDS54918.1																																																																																				0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		25	147	0	0	0	1	0	25	147				
PDE9A	5152	broad.mit.edu	37	21	44190886	44190886	+	Missense_Mutation	SNP	G	G	A	rs150892798		TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr21:44190886G>A	ENST00000291539.6	+	18	1724	c.1664G>A	c.(1663-1665)cGg>cAg	p.R555Q	PDE9A_ENST00000398224.3_Missense_Mutation_p.R428Q|PDE9A_ENST00000539837.1_Missense_Mutation_p.R427Q|PDE9A_ENST00000398232.3_Missense_Mutation_p.R488Q|PDE9A_ENST00000335440.6_Missense_Mutation_p.R453Q|PDE9A_ENST00000349112.3_Missense_Mutation_p.R427Q|PDE9A_ENST00000380328.2_Missense_Mutation_p.R502Q|PDE9A_ENST00000398229.3_Missense_Mutation_p.R421Q|PDE9A_ENST00000398236.3_Missense_Mutation_p.R469Q|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Missense_Mutation_p.R514Q|PDE9A_ENST00000398227.3_Missense_Mutation_p.R395Q|PDE9A_ENST00000398234.3_Missense_Mutation_p.R454Q|PDE9A_ENST00000328862.6_Missense_Mutation_p.R529Q|PDE9A_ENST00000335512.4_Missense_Mutation_p.R495Q	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	555					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GAGCTGAAGCGGATAGATGAC	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20843	0.0		0.0	False		,,,				2504	0.0					ENST00000291539.6																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1663-1665)cGg>cAg		phosphodiesterase 9A		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	3,4403	8.1+/-20.4	0,3,2200	140.0	113.0	122.0		1484,1283,1280,1505,1361,1043,1043,1406,1184,1013,1262,1358,1043,1013,1463,1541,1586,1043,1043,1664	2.3	0.4	21	dbSNP_134	122	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	PDE9A	NM_001001567.1,NM_001001568.1,NM_001001569.1,NM_001001570.1,NM_001001571.1,NM_001001572.1,NM_001001573.1,NM_001001574.1,NM_001001575.1,NM_001001576.1,NM_001001577.1,NM_001001578.1,NM_001001579.1,NM_001001580.1,NM_001001581.1,NM_001001582.1,NM_001001583.1,NM_001001584.2,NM_001001585.1,NM_002606.2	43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43,43	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign,benign	495/534,428/467,427/466,502/541,454/493,348/387,348/387,469/508,395/434,338/377,421/460,453/492,348/387,338/377,488/527,514/553,529/568,348/387,348/387,555/594	44190886	3,13003	2203	4300	6503	SO:0001583	missense	5152				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding	g.chr21:44190886G>A	AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1664G>A	21.37:g.44190886G>A	ENSP00000291539:p.Arg555Gln					PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398224.3_Missense_Mutation_p.R428Q|PDE9A_ENST00000398227.3_Missense_Mutation_p.R395Q|PDE9A_ENST00000398225.3_Missense_Mutation_p.R514Q|PDE9A_ENST00000335512.4_Missense_Mutation_p.R495Q|PDE9A_ENST00000398229.3_Missense_Mutation_p.R421Q|PDE9A_ENST00000539837.1_Missense_Mutation_p.R427Q|PDE9A_ENST00000398232.3_Missense_Mutation_p.R488Q|PDE9A_ENST00000380328.2_Missense_Mutation_p.R502Q|PDE9A_ENST00000398234.3_Missense_Mutation_p.R454Q|PDE9A_ENST00000335440.6_Missense_Mutation_p.R453Q|PDE9A_ENST00000328862.6_Missense_Mutation_p.R529Q|PDE9A_ENST00000349112.3_Missense_Mutation_p.R427Q|PDE9A_ENST00000398236.3_Missense_Mutation_p.R469Q	p.R555Q	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN			18	1724	+			555					B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	ENST00000291539.6	37	c.1664G>A	CCDS13690.1	.	.	.	.	.	.	.	.	.	.	G	0.119	-1.128235	0.01770	6.81E-4	0.0	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	4.64	2.26	0.28386	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.230720	0.38605	N	0.001636	T	0.39572	0.1083	N	0.01874	-0.695	0.32775	N	0.503275	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.12013	0.005;0.0;0.0;0.003;0.003;0.002;0.0;0.0;0.0;0.0;0.0;0.002;0.002;0.0;0.001	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.04013	0.001;0.0;0.0;0.001;0.0;0.001;0.0;0.0;0.0;0.0;0.0;0.001;0.001;0.0;0.0	T	0.45614	-0.9249	10	0.02654	T	1	.	7.9587	0.30057	0.8347:0.0:0.1653:0.0	.	488;469;454;529;514;447;495;338;395;421;427;453;502;428;555	O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-10;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	Q	495;427;555;502;488;454;469;529;453;514;421;395;427;428	ENSP00000335242:R495Q;ENSP00000441899:R427Q;ENSP00000291539:R555Q;ENSP00000369685:R502Q;ENSP00000381287:R488Q;ENSP00000381289:R454Q;ENSP00000381291:R469Q;ENSP00000328699:R529Q;ENSP00000335365:R453Q;ENSP00000381281:R514Q;ENSP00000381285:R421Q;ENSP00000381283:R395Q;ENSP00000344730:R427Q;ENSP00000381280:R428Q	ENSP00000291539:R555Q	R	+	2	0	PDE9A	43063955	1.000000	0.71417	0.407000	0.26434	0.019000	0.09904	5.486000	0.66856	0.251000	0.21505	0.557000	0.71058	CGG		0.557	PDE9A-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195466.1			3	70	0	0	0	1	0	3	70				
KCNIP1	30820	broad.mit.edu	37	5	170159832	170159832	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr5:170159832A>G	ENST00000411494.1	+	7	497	c.497A>G	c.(496-498)tAt>tGt	p.Y166C	KCNIP1_ENST00000434108.1_Missense_Mutation_p.Y180C|KCNIP1_ENST00000377360.4_Missense_Mutation_p.Y164C|KCNIP1_ENST00000390656.4_Missense_Mutation_p.Y155C|KCNIP1_ENST00000328939.4_Missense_Mutation_p.Y155C|KCNIP1_ENST00000520740.1_Missense_Mutation_p.Y127C			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	166	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAGCCATCTATGACATGATG	0.488																																						ENST00000328939.4																			0				autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18						c.(463-465)tAt>tGt		Kv channel interacting protein 1							169.0	133.0	145.0					5																	170159832		2203	4300	6503	SO:0001583	missense	0				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr5:170159832A>G	AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"""EF-hand domain containing"""	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.497A>G	5.37:g.170159832A>G	ENSP00000395323:p.Tyr166Cys					KCNIP1_ENST00000377360.4_Missense_Mutation_p.Y164C|KCNIP1_ENST00000411494.1_Missense_Mutation_p.Y166C|KCNIP1_ENST00000434108.1_Missense_Mutation_p.Y180C|KCNIP1_ENST00000390656.4_Missense_Mutation_p.Y155C|KCNIP1_ENST00000520740.1_Missense_Mutation_p.Y127C	p.Y155C	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		6	1001	+	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	166			EF-hand 3.		B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Missense_Mutation	SNP	ENST00000411494.1	37	c.464A>G	CCDS34286.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.271517	0.80469	.	.	ENSG00000182132	ENST00000377360;ENST00000328939;ENST00000390656;ENST00000520740;ENST00000434108;ENST00000411494	T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.55	5.55	0.83447	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.87233	0.6126	M	0.92219	3.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.90135	0.4209	9	.	.	.	.	13.6537	0.62325	1.0:0.0:0.0:0.0	.	180;155;166;164	Q3YAD0;Q3YAD2;Q9NZI2;Q3YAD3	.;.;KCIP1_HUMAN;.	C	164;155;155;127;180;166	ENSP00000366577:Y164C;ENSP00000329686:Y155C;ENSP00000375071:Y155C;ENSP00000431102:Y127C;ENSP00000414886:Y180C;ENSP00000395323:Y166C	.	Y	+	2	0	KCNIP1	170092410	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.904000	0.92590	2.096000	0.63516	0.528000	0.53228	TAT		0.488	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1			12	90	0	0	0	1	0	12	90				
UTP23	84294	broad.mit.edu	37	8	117783984	117783984	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr8:117783984A>G	ENST00000309822.2	+	3	754	c.653A>G	c.(652-654)cAa>cGa	p.Q218R	UTP23_ENST00000357148.3_Intron|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000520733.1_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	218					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						CCGGACACACAATCATCTGCT	0.368																																						ENST00000309822.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						c.(652-654)cAa>cGa		UTP23, small subunit (SSU) processome component, homolog (yeast)							41.0	45.0	43.0					8																	117783984		2197	4290	6487	SO:0001583	missense	84294				rRNA processing	nucleolus		g.chr8:117783984A>G		CCDS6320.1	8q24.11	2008-06-12	2008-06-12	2008-06-12		ENSG00000147679			28224	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 53"""	C8orf53		16769905	Standard	NM_032334		Approved	MGC14595	uc003yoc.3	Q9BRU9		ENST00000309822.2:c.653A>G	8.37:g.117783984A>G	ENSP00000308332:p.Gln218Arg					UTP23_ENST00000517820.1_Intron|UTP23_ENST00000357148.3_Intron|UTP23_ENST00000520733.1_Intron	p.Q218R	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN			3	754	+			218					B2RE25|Q96NJ8	Missense_Mutation	SNP	ENST00000309822.2	37	c.653A>G	CCDS6320.1	.	.	.	.	.	.	.	.	.	.	A	1.843	-0.467020	0.04476	.	.	ENSG00000147679	ENST00000309822	T	0.23754	1.89	5.96	3.53	0.40419	.	1.129380	0.06287	N	0.698434	T	0.26448	0.0646	L	0.45228	1.405	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.38023	-0.9680	10	0.21014	T	0.42	0.0049	14.2112	0.65767	0.456:0.5439:0.0:0.0	.	218	Q9BRU9	UTP23_HUMAN	R	218	ENSP00000308332:Q218R	ENSP00000308332:Q218R	Q	+	2	0	UTP23	117853165	0.004000	0.15560	0.002000	0.10522	0.307000	0.27823	1.439000	0.35013	0.473000	0.27368	0.533000	0.62120	CAA		0.368	UTP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381173.1	NM_032334		8	66	0	0	0	1	0	8	66				
AZGP1	563	broad.mit.edu	37	7	99565785	99565785	+	Silent	SNP	G	G	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr7:99565785G>A	ENST00000292401.4	-	3	742	c.606C>T	c.(604-606)gaC>gaT	p.D202D	AZGP1_ENST00000411734.1_Silent_p.D199D|AZGP1_ENST00000483612.1_5'Flank	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	202					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TACCTTGCCGGTCCAGGATAT	0.537																																						ENST00000411734.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16						c.(595-597)gaC>gaT		alpha-2-glycoprotein 1, zinc-binding							80.0	79.0	79.0					7																	99565785		2203	4300	6503	SO:0001819	synonymous_variant	563				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity	g.chr7:99565785G>A	BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.606C>T	7.37:g.99565785G>A						AZGP1_ENST00000292401.4_Silent_p.D202D	p.D199D			P25311	ZA2G_HUMAN			3	602	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		202					D6W5T8|O60386|Q5XKQ4|Q8N4N0	Silent	SNP	ENST00000292401.4	37	c.597C>T	CCDS5680.1																																																																																				0.537	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185		12	80	0	0	0	1	0	12	80				
CCDC53	51019	broad.mit.edu	37	12	102433745	102433745	+	Silent	SNP	T	T	C			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr12:102433745T>C	ENST00000240079.6	-	5	497	c.336A>G	c.(334-336)acA>acG	p.T112T	CCDC53_ENST00000539515.1_5'UTR|CCDC53_ENST00000545679.1_Silent_p.T111T	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	112						actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|WASH complex (GO:0071203)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						CAGAGTCTTGTGTACTGTTCT	0.358																																						ENST00000240079.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(334-336)acA>acG		coiled-coil domain containing 53							188.0	171.0	176.0					12																	102433745		1841	4110	5951	SO:0001819	synonymous_variant	51019					WASH complex	protein binding	g.chr12:102433745T>C	AF151874	CCDS44959.1, CCDS73512.1	12q23.3	2014-05-09			ENSG00000120860	ENSG00000120860			24256	protein-coding gene	gene with protein product						10810093, 20498093	Standard	XM_005268939		Approved	CGI-116	uc010svw.2	Q9Y3C0	OTTHUMG00000168187	ENST00000240079.6:c.336A>G	12.37:g.102433745T>C						CCDC53_ENST00000545679.1_Silent_p.T111T|CCDC53_ENST00000539515.1_5'UTR	p.T112T	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN			5	497	-			112					B2RC74|Q53FF0|Q6IAI4|Q96QK0	Silent	SNP	ENST00000240079.6	37	c.336A>G	CCDS44959.1																																																																																				0.358	CCDC53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398685.1	NM_016053		12	67	0	0	0	1	0	12	67				
MATN2	4147	broad.mit.edu	37	8	98943235	98943235	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr8:98943235G>A	ENST00000520016.1	+	2	321	c.197G>A	c.(196-198)cGc>cAc	p.R66H	MATN2_ENST00000521689.1_Missense_Mutation_p.R66H|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Missense_Mutation_p.R66H|MATN2_ENST00000254898.5_Missense_Mutation_p.R66H			O00339	MATN2_HUMAN	matrilin 2	66	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GACAGCTCTCGCAGTGTCAAC	0.507																																						ENST00000254898.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(196-198)cGc>cAc		matrilin 2							65.0	64.0	64.0					8																	98943235		2022	4196	6218	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98943235G>A	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.197G>A	8.37:g.98943235G>A	ENSP00000430487:p.Arg66His					MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Missense_Mutation_p.R66H|MATN2_ENST00000521689.1_Missense_Mutation_p.R66H|MATN2_ENST00000520016.1_Missense_Mutation_p.R66H	p.R66H	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		3	428	+	Breast(36;1.43e-06)		66			VWFA 1.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.197G>A	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093693	0.94149	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.64	5.64	0.86602	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000015	D	0.88581	0.6475	M	0.74258	2.255	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89134	0.3512	10	0.87932	D	0	-32.4668	19.7059	0.96071	0.0:0.0:1.0:0.0	.	66;66;66	O00339-2;O00339;Q8N2G3	.;MATN2_HUMAN;.	H	66	ENSP00000429977:R66H;ENSP00000254898:R66H;ENSP00000430221:R66H;ENSP00000430487:R66H	ENSP00000254898:R66H	R	+	2	0	MATN2	99012411	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	9.807000	0.99171	2.673000	0.90976	0.591000	0.81541	CGC		0.507	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			3	35	0	0	0	1	0	3	35				
PIK3R1	5295	broad.mit.edu	37	5	67591287	67591287	+	Silent	SNP	C	C	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr5:67591287C>T	ENST00000521381.1	+	14	2401	c.1785C>T	c.(1783-1785)aaC>aaT	p.N595N	PIK3R1_ENST00000274335.5_Silent_p.N595N|PIK3R1_ENST00000523872.1_Silent_p.N232N|PIK3R1_ENST00000320694.8_Silent_p.N295N|PIK3R1_ENST00000521657.1_Silent_p.N595N|PIK3R1_ENST00000336483.5_Silent_p.N325N|PIK3R1_ENST00000396611.1_Silent_p.N595N	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	595					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.M582_D605>I(4)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AGAAGTTGAACGAGTGGTTGG	0.368			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		7	Complex - deletion inframe(4)|Whole gene deletion(1)|Deletion - Frameshift(1)|Unknown(1)	p.M582_D605>I(4)|p.Y580fs*1(1)|p.0?(1)|p.?(1)	large_intestine(4)|lung(1)|ovary(1)|central_nervous_system(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1783-1785)aaC>aaT		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)						153.0	156.0	155.0					5																	67591287		2203	4300	6503	SO:0001819	synonymous_variant	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591287C>T	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1785C>T	5.37:g.67591287C>T		TCGA GBM(4;<1E-08)				PIK3R1_ENST00000523872.1_Silent_p.N232N|PIK3R1_ENST00000336483.5_Silent_p.N325N|PIK3R1_ENST00000396611.1_Silent_p.N595N|PIK3R1_ENST00000274335.5_Silent_p.N595N|PIK3R1_ENST00000320694.8_Silent_p.N295N|PIK3R1_ENST00000521657.1_Silent_p.N595N	p.N595N	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	14	2401	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	595					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Silent	SNP	ENST00000521381.1	37	c.1785C>T	CCDS3993.1																																																																																				0.368	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		5	71	0	0	0	1	0	5	71				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		4	86	0	0	0	1	0	4	86				
KIAA1715	80856	broad.mit.edu	37	2	176804298	176804298	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr2:176804298C>A	ENST00000272748.4	-	10	1041	c.794G>T	c.(793-795)gGt>gTt	p.G265V	KIAA1715_ENST00000535310.1_Missense_Mutation_p.G190V|KIAA1715_ENST00000544803.1_Missense_Mutation_p.G296V	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	265					blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TGGACCATCACCAACCAAATA	0.378																																						ENST00000272748.4																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20						c.(793-795)gGt>gTt		KIAA1715							109.0	103.0	105.0					2																	176804298		2203	4300	6503	SO:0001583	missense	80856					integral to membrane	protein binding	g.chr2:176804298C>A	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"""lunapark"", ""limb and neural patterns"""	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.794G>T	2.37:g.176804298C>A	ENSP00000272748:p.Gly265Val					KIAA1715_ENST00000544803.1_Missense_Mutation_p.G296V|KIAA1715_ENST00000535310.1_Missense_Mutation_p.G190V	p.G265V	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		10	1041	-			265					B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	c.794G>T	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479203	0.84747	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	5.32	5.32	0.75619	Domain of unknown function DUF2296 (1);	0.000000	0.85682	D	0.000000	D	0.87111	0.6096	M	0.93720	3.45	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.995;0.999;0.997	D	0.90131	0.4206	9	0.87932	D	0	-10.4518	19.3572	0.94420	0.0:1.0:0.0:0.0	.	267;296;262;265	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	V	265;267;142;296;190	.	ENSP00000272748:G265V	G	-	2	0	KIAA1715	176512544	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.393000	0.79851	2.653000	0.90120	0.467000	0.42956	GGT		0.378	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		4	27	1	0	0.00909568	1	0.0093289	4	27				
HERC2	8924	broad.mit.edu	37	15	28478677	28478677	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr15:28478677C>T	ENST00000261609.7	-	29	4490	c.4382G>A	c.(4381-4383)gGt>gAt	p.G1461D		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACCAAGTGCACCTGCATGAAC	0.423																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(4381-4383)gGt>gAt		HECT and RLD domain containing E3 ubiquitin protein ligase 2							63.0	60.0	61.0					15																	28478677		2202	4294	6496	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28478677C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.4382G>A	15.37:g.28478677C>T	ENSP00000261609:p.Gly1461Asp						p.G1461D	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	29	4490	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1461						Missense_Mutation	SNP	ENST00000261609.7	37	c.4382G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	c	1.612	-0.523736	0.04141	.	.	ENSG00000128731	ENST00000261609	T	0.37235	1.21	4.22	3.22	0.36961	.	0.260709	0.37955	N	0.001875	T	0.25158	0.0611	L	0.36672	1.1	0.43259	D	0.995191	B	0.29085	0.232	B	0.29440	0.102	T	0.03566	-1.1024	10	0.15066	T	0.55	.	10.7491	0.46198	0.143:0.7176:0.1394:0.0	.	1461	O95714	HERC2_HUMAN	D	1461	ENSP00000261609:G1461D	ENSP00000261609:G1461D	G	-	2	0	HERC2	26152272	0.819000	0.29175	0.295000	0.24960	0.230000	0.25150	2.567000	0.45956	2.353000	0.79882	0.645000	0.84053	GGT		0.423	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		15	79	0	0	0	1	0	15	79				
FBXW7	55294	broad.mit.edu	37	4	153244092	153244092	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr4:153244092G>A	ENST00000281708.4	-	12	3294	c.2065C>T	c.(2065-2067)Cgg>Tgg	p.R689W	RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000603548.1_Missense_Mutation_p.R689W|FBXW7_ENST00000263981.5_Missense_Mutation_p.R609W|FBXW7_ENST00000296555.5_Missense_Mutation_p.R571W|FBXW7_ENST00000603841.1_Missense_Mutation_p.R689W|FBXW7_ENST00000393956.3_Missense_Mutation_p.R513W	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	689					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R689W(10)|p.R450W(3)|p.R609W(3)|p.R571W(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTCCCATTCCGACTCCCAACT	0.478			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		18	Substitution - Missense(17)|Unknown(1)	p.R689W(10)|p.R450W(3)|p.R609W(3)|p.R571W(1)|p.?(1)	large_intestine(11)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(2065-2067)Cgg>Tgg		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							172.0	167.0	168.0					4																	153244092		2203	4300	6503	SO:0001583	missense	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153244092G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.2065C>T	4.37:g.153244092G>A	ENSP00000281708:p.Arg689Trp					FBXW7_ENST00000296555.5_Missense_Mutation_p.R571W|FBXW7_ENST00000393956.3_Missense_Mutation_p.R513W|FBXW7_ENST00000603548.1_Missense_Mutation_p.R689W|FBXW7_ENST00000263981.5_Missense_Mutation_p.R609W|FBXW7_ENST00000603841.1_Missense_Mutation_p.R689W	p.R689W	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			12	3294	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	689					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.2065C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475565	0.26511	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	M	0.82923	2.615	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.53892	-0.8374	10	0.87932	D	0	-15.04	14.5904	0.68359	0.0:0.0:0.854:0.146	.	513;689;571;609	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	W	689;571;609;513	ENSP00000281708:R689W;ENSP00000296555:R571W;ENSP00000263981:R609W;ENSP00000377528:R513W	ENSP00000263981:R609W	R	-	1	2	FBXW7	153463542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.906000	0.56340	2.681000	0.91329	0.655000	0.94253	CGG		0.478	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			22	121	0	0	0	1	0	22	121				
PLPPR5	163404	broad.mit.edu	37	1	99380375	99380375	+	Silent	SNP	T	T	C			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr1:99380375T>C	ENST00000263177.4	-	5	1121	c.900A>G	c.(898-900)gtA>gtG	p.V300V	LPPR5_ENST00000370188.3_Silent_p.V300V	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		300						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										AAGGACTTTCTACTCGAGGAA	0.353																																						ENST00000370188.3																			0											c.(898-900)gtA>gtG									147.0	138.0	141.0					1																	99380375		2203	4300	6503	SO:0001819	synonymous_variant	0					integral to membrane	hydrolase activity	g.chr1:99380375T>C																												ENST00000263177.4:c.900A>G	1.37:g.99380375T>C						LPPR5_ENST00000263177.4_Silent_p.V300V	p.V300V	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			5	1260	-			300					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Silent	SNP	ENST00000263177.4	37	c.900A>G	CCDS30778.1																																																																																				0.353	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			6	86	0	0	0	1	0	6	86				
ZNF845	91664	broad.mit.edu	37	19	53855012	53855012	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr19:53855012A>G	ENST00000595091.1	+	5	1303	c.1084A>G	c.(1084-1086)Aaa>Gaa	p.K362E	ZNF845_ENST00000458035.1_Missense_Mutation_p.K362E			Q96IR2	ZN845_HUMAN	zinc finger protein 845	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGAATGTGACAAAGCTTTCAG	0.388																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1084-1086)Aaa>Gaa		zinc finger protein 845							34.0	32.0	33.0					19																	53855012		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855012A>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1084A>G	19.37:g.53855012A>G	ENSP00000470005:p.Lys362Glu					ZNF845_ENST00000595091.1_Missense_Mutation_p.K362E	p.K362E	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1201	+			362						Missense_Mutation	SNP	ENST00000595091.1	37	c.1084A>G	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.932463	0.73442	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.07567	3.18	2.05	2.05	0.26809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22360	0.0539	M	0.74258	2.255	0.09310	N	1	D	0.63046	0.992	P	0.60473	0.875	T	0.03095	-1.1073	9	0.87932	D	0	.	8.8227	0.35036	1.0:0.0:0.0:0.0	.	362	Q96IR2	ZN845_HUMAN	E	362	ENSP00000388311:K362E	ENSP00000412086:K362E	K	+	1	0	ZNF845	58546824	0.756000	0.28383	0.001000	0.08648	0.920000	0.55202	3.376000	0.52417	0.932000	0.37266	0.172000	0.16884	AAA		0.388	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	57	0	0	0	1	0	3	57				
ZFP64	55734	broad.mit.edu	37	20	50776664	50776664	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr20:50776664G>A	ENST00000216923.4	-	5	1110	c.761C>T	c.(760-762)aCg>aTg	p.T254M	ZFP64_ENST00000346617.4_Missense_Mutation_p.T200M|ZFP64_ENST00000371518.2_Missense_Mutation_p.T254M|ZFP64_ENST00000371515.4_Missense_Mutation_p.T252M|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000361387.2_Missense_Mutation_p.T254M	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	254					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GGACTCACCCGTGTGGGATCG	0.532																																						ENST00000216923.4																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(760-762)aCg>aTg		ZFP64 zinc finger protein							142.0	142.0	142.0					20																	50776664		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50776664G>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.761C>T	20.37:g.50776664G>A	ENSP00000216923:p.Thr254Met					ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000346617.4_Missense_Mutation_p.T200M|ZFP64_ENST00000371518.2_Missense_Mutation_p.T254M|ZFP64_ENST00000361387.2_Missense_Mutation_p.T254M|ZFP64_ENST00000371515.4_Missense_Mutation_p.T252M	p.T254M	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN			5	1110	-			254					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.761C>T	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156564	0.94686	.	.	ENSG00000020256	ENST00000371518;ENST00000361387;ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T;T;T	0.26373	3.05;3.05;1.74;1.74;1.74	6.17	6.17	0.99709	Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (2);	0.000000	0.64402	D	0.000019	T	0.60856	0.2301	M	0.86502	2.82	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;0.998	T	0.63743	-0.6568	10	0.87932	D	0	-15.4612	20.8794	0.99867	0.0:0.0:1.0:0.0	.	200;252;254;254	Q9NPA5-2;Q5JWM1;Q9NPA5;Q9NTW7	.;.;ZF64A_HUMAN;ZF64B_HUMAN	M	254;254;254;200;252;96;407	ENSP00000360573:T254M;ENSP00000355179:T254M;ENSP00000216923:T254M;ENSP00000344615:T200M;ENSP00000360570:T252M	ENSP00000216923:T254M	T	-	2	0	ZFP64	50210071	1.000000	0.71417	0.975000	0.42487	0.840000	0.47671	9.623000	0.98386	2.941000	0.99782	0.655000	0.94253	ACG		0.532	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197		30	146	0	0	0	1	0	30	146				
LAMA2	3908	broad.mit.edu	37	6	129785592	129785592	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr6:129785592G>T	ENST00000421865.2	+	50	7199	c.7150G>T	c.(7150-7152)Gac>Tac	p.D2384Y		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2384	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGCCACACGAGACCTGGTAAA	0.408																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(7150-7152)Gac>Tac		laminin, alpha 2							228.0	192.0	204.0					6																	129785592		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129785592G>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7150G>T	6.37:g.129785592G>T	ENSP00000400365:p.Asp2384Tyr						p.D2384Y	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	50	7199	+			2384			Laminin G-like 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.7150G>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607154	0.87157	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.81078	-1.45	5.6	5.6	0.85130	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.83445	0.5256	L	0.39147	1.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.81070	-0.1099	9	.	.	.	.	19.6113	0.95607	0.0:0.0:1.0:0.0	.	2385;2384	A6NF00;P24043	.;LAMA2_HUMAN	Y	2384;2383;2384;402	ENSP00000400365:D2384Y	.	D	+	1	0	LAMA2	129827285	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.352000	0.97076	2.618000	0.88619	0.655000	0.94253	GAC		0.408	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			11	122	1	0	0.00244969	1	0.00257863	11	122				
BCAS4	55653	broad.mit.edu	37	20	49446838	49446838	+	Missense_Mutation	SNP	T	T	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr20:49446838T>A	ENST00000358791.5	+	3	375	c.275T>A	c.(274-276)aTc>aAc	p.I92N	BCAS4_ENST00000371608.2_Missense_Mutation_p.I92N|BCAS4_ENST00000609336.1_Missense_Mutation_p.I62N|BCAS4_ENST00000262591.5_Missense_Mutation_p.I92N|BCAS4_ENST00000485049.1_3'UTR	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	92						cytoplasm (GO:0005737)				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						ACTTCACAGATCCTGGAGGAA	0.532																																						ENST00000358791.5																			0				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						c.(274-276)aTc>aAc		breast carcinoma amplified sequence 4							137.0	111.0	120.0					20																	49446838		2203	4300	6503	SO:0001583	missense	55653					cytoplasm		g.chr20:49446838T>A	AK000502	CCDS13432.2, CCDS33487.1	20q13	2008-07-03			ENSG00000124243	ENSG00000124243			14367	protein-coding gene	gene with protein product		607471				12378525	Standard	NM_001010974		Approved	FLJ20495, CNOL	uc002xvq.3	Q8TDM0	OTTHUMG00000032735	ENST00000358791.5:c.275T>A	20.37:g.49446838T>A	ENSP00000351642:p.Ile92Asn					BCAS4_ENST00000262591.5_Missense_Mutation_p.I92N|BCAS4_ENST00000371608.2_Missense_Mutation_p.I92N|BCAS4_ENST00000485049.1_3'UTR	p.I92N	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN			3	375	+			92					Q5TD52|Q5TD53|Q5TD54|Q5U5K7|Q5XKE8|Q8IXI7|Q8NEZ6|Q8TDL9|Q9NX13|Q9Y511	Missense_Mutation	SNP	ENST00000358791.5	37	c.275T>A	CCDS33487.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.20|18.20	3.570761|3.570761	0.65765|0.65765	.|.	.|.	ENSG00000124243|ENSG00000124243	ENST00000358791;ENST00000262591;ENST00000355583;ENST00000371608|ENST00000445038	T;T;T|.	0.51071|.	1.73;0.72;0.78|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.195984|.	0.43416|.	N|.	0.000566|.	T|T	0.53384|0.53384	0.1793|0.1793	L|L	0.59436|0.59436	1.845|1.845	0.30927|0.30927	N|N	0.727335|0.727335	D;D;D;D|.	0.89917|.	1.0;0.999;0.999;0.999|.	D;D;D;D|.	0.91635|.	0.999;0.998;0.998;0.998|.	T|T	0.58446|0.58446	-0.7635|-0.7635	10|5	0.87932|.	D|.	0|.	-21.2124|-21.2124	11.38|11.38	0.49752|0.49752	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	92;92;92;92|.	Q8TDM0-2;Q8TDM0-3;Q8TDM0;F8WE92|.	.;.;BCAS4_HUMAN;.|.	N|T	92|67	ENSP00000351642:I92N;ENSP00000262591:I92N;ENSP00000360669:I92N|.	ENSP00000262591:I92N|.	I|S	+|+	2|1	0|0	BCAS4|BCAS4	48880245|48880245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.697000|0.697000	0.40408|0.40408	2.291000|2.291000	0.43540|0.43540	1.944000|1.944000	0.56390|0.56390	0.533000|0.533000	0.62120|0.62120	ATC|TCC		0.532	BCAS4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079700.1	NM_017843		10	71	0	0	0	1	0	10	71				
PAX6	5080	broad.mit.edu	37	11	31815030	31815030	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr11:31815030G>A	ENST00000379132.3	-	10	1268	c.988C>T	c.(988-990)Ccg>Tcg	p.P330S	PAX6_ENST00000379129.2_Missense_Mutation_p.P344S|PAX6_ENST00000379111.2_Missense_Mutation_p.P330S|PAX6_ENST00000241001.8_Missense_Mutation_p.P330S|PAX6_ENST00000419022.1_Missense_Mutation_p.P344S|PAX6_ENST00000379115.4_Missense_Mutation_p.P344S|PAX6_ENST00000379123.5_Missense_Mutation_p.P330S|PAX6_ENST00000379107.2_Missense_Mutation_p.P344S			P26367	PAX6_HUMAN	paired box 6	330	Pro/Ser/Thr-rich.				astrocyte differentiation (GO:0048708)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|cerebral cortex regionalization (GO:0021796)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|cornea development in camera-type eye (GO:0061303)|dorsal/ventral axis specification (GO:0009950)|embryonic camera-type eye morphogenesis (GO:0048596)|eye development (GO:0001654)|eye photoreceptor cell development (GO:0042462)|forebrain anterior/posterior pattern specification (GO:0021797)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain-midbrain boundary formation (GO:0021905)|glucose homeostasis (GO:0042593)|hindbrain development (GO:0030902)|iris morphogenesis (GO:0061072)|keratinocyte differentiation (GO:0030216)|lacrimal gland development (GO:0032808)|lens development in camera-type eye (GO:0002088)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|neuron migration (GO:0001764)|oligodendrocyte cell fate specification (GO:0021778)|organ morphogenesis (GO:0009887)|pancreatic A cell development (GO:0003322)|pituitary gland development (GO:0021983)|positive regulation of cell fate specification (GO:0042660)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of gene expression (GO:0010628)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to organelle (GO:0033365)|protein ubiquitination (GO:0016567)|regulation of cell migration (GO:0030334)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in somatic motor neuron fate commitment (GO:0021918)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to wounding (GO:0009611)|retina development in camera-type eye (GO:0060041)|salivary gland morphogenesis (GO:0007435)|signal transduction involved in regulation of gene expression (GO:0023019)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell differentiation (GO:0003309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|protein kinase binding (GO:0019901)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GGCATAGGCGGCAGAGCGCTG	0.557									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation																													ENST00000419022.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35						c.(1030-1032)Ccg>Tcg		paired box 6							142.0	147.0	145.0					11																	31815030		2202	4299	6501	SO:0001583	missense	5080	Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation	Familial Cancer Database	WAGR syndrome	blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity	g.chr11:31815030G>A	AY707088	CCDS31451.1, CCDS31452.1	11p13	2014-09-17	2007-07-12		ENSG00000007372	ENSG00000007372		"""Paired boxes"", ""Homeoboxes / PRD class"""	8620	protein-coding gene	gene with protein product	"""aniridia, keratitis"""	607108	"""paired box gene 6 (aniridia, keratitis)"""	AN2		1302030	Standard	NM_001127612		Approved	D11S812E, AN, WAGR	uc021qfm.1	P26367	OTTHUMG00000041447	ENST00000379132.3:c.988C>T	11.37:g.31815030G>A	ENSP00000368427:p.Pro330Ser					PAX6_ENST00000379123.5_Missense_Mutation_p.P330S|PAX6_ENST00000379115.4_Missense_Mutation_p.P344S|PAX6_ENST00000379129.2_Missense_Mutation_p.P344S|PAX6_ENST00000241001.8_Missense_Mutation_p.P330S|PAX6_ENST00000379132.3_Missense_Mutation_p.P330S|PAX6_ENST00000379107.2_Missense_Mutation_p.P344S|PAX6_ENST00000379111.2_Missense_Mutation_p.P330S	p.P344S	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN			12	1498	-	Lung SC(675;0.225)		330			Pro/Ser/Thr-rich.		Q6N006|Q99413	Missense_Mutation	SNP	ENST00000379132.3	37	c.1030C>T	CCDS31451.1	.	.	.	.	.	.	.	.	.	.	G	34	5.319683	0.95682	.	.	ENSG00000007372	ENST00000419022;ENST00000379132;ENST00000379129;ENST00000531633;ENST00000379107;ENST00000464174;ENST00000241001;ENST00000379115;ENST00000379111;ENST00000379123;ENST00000494377;ENST00000470027;ENST00000379109;ENST00000533333	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.0;-3.29;-2.94;-3.29;-3.29;-3.29;-3.29;-2.76;-2.76;-3.29;-3.02	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.94175	0.8131	L	0.50919	1.6	0.80722	D	1	D;D	0.58268	0.982;0.981	P;P	0.53518	0.637;0.728	D	0.92537	0.6038	10	0.31617	T	0.26	.	19.9866	0.97352	0.0:0.0:1.0:0.0	.	344;330	F1T0F8;P26367	.;PAX6_HUMAN	S	344;330;344;159;344;129;330;344;330;330;194;194;330;285	ENSP00000404100:P344S;ENSP00000368427:P330S;ENSP00000368424:P344S;ENSP00000451885:P159S;ENSP00000368401:P344S;ENSP00000431961:P129S;ENSP00000241001:P330S;ENSP00000368410:P344S;ENSP00000368406:P330S;ENSP00000368418:P330S;ENSP00000451901:P194S;ENSP00000450775:P194S;ENSP00000368403:P330S;ENSP00000451372:P285S	ENSP00000241001:P330S	P	-	1	0	PAX6	31771606	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.426000	0.97469	2.698000	0.92095	0.643000	0.83706	CCG		0.557	PAX6-008	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000099293.4	NM_001604		4	171	0	0	0	1	0	4	171				
EIF2AK1	27102	broad.mit.edu	37	7	6094277	6094277	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr7:6094277G>T	ENST00000199389.6	-	2	323	c.177C>A	c.(175-177)ttC>ttA	p.F59L	RNU6-218P_ENST00000517120.1_RNA|EIF2AK1_ENST00000536084.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	59					negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CTGCAAAAGGGAAGGTTGGCT	0.398																																						ENST00000199389.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27						c.(175-177)ttC>ttA		eukaryotic translation initiation factor 2-alpha kinase 1							112.0	109.0	110.0					7																	6094277		2203	4300	6503	SO:0001583	missense	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6094277G>T	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.177C>A	7.37:g.6094277G>T	ENSP00000199389:p.Phe59Leu					EIF2AK1_ENST00000536084.1_5'UTR	p.F59L	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	2	323	-		Ovarian(82;0.0423)	59					A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	37	c.177C>A	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	16.81	3.225314	0.58668	.	.	ENSG00000086232	ENST00000199389;ENST00000446699	T;T	0.12984	2.63;2.63	5.42	2.18	0.27775	.	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	M	0.61703	1.905	0.80722	D	1	D;P	0.63046	0.992;0.858	P;B	0.56474	0.799;0.365	T	0.21484	-1.0244	10	0.10111	T	0.7	-22.9512	7.4712	0.27351	0.2348:0.1247:0.6405:0.0	.	59;59	Q9BQI3-2;Q9BQI3	.;E2AK1_HUMAN	L	59	ENSP00000199389:F59L;ENSP00000397590:F59L	ENSP00000199389:F59L	F	-	3	2	EIF2AK1	6060803	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	1.279000	0.33191	0.665000	0.31066	-0.254000	0.11334	TTC		0.398	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		22	119	1	0	5.35356e-11	1	5.9484e-11	22	119				
F8	2157	broad.mit.edu	37	X	154130442	154130442	+	Splice_Site	SNP	C	C	T			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chrX:154130442C>T	ENST00000360256.4	-	19	6199	c.5999G>A	c.(5998-6000)gGt>gAt	p.G2000D		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2000	F5/8 type A 3.|Plastocyanin-like 6.		G -> A (in HEMA; moderate-severe). {ECO:0000269|PubMed:10896236}.		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTCAAAAACACCTTATAAAAA	0.378																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CM003815|CS063308	F8	M|S		c.e19-1		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						92.0	81.0	85.0					X																	154130442		2203	4300	6503	SO:0001630	splice_region_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154130442C>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5999-1G>A	X.37:g.154130442C>T							p.G2000_splice	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			19	6199	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		2000		G -> A (in HEMA; moderate-severe).	F5/8 type A 3.|Plastocyanin-like 6.		Q14286|Q5HY69	Splice_Site	SNP	ENST00000360256.4	37	c.5998_splice	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.247317	0.80024	.	.	ENSG00000185010	ENST00000360256	D	0.99859	-7.24	4.85	4.85	0.62838	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	M	0.88105	2.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96345	0.9254	10	0.87932	D	0	.	14.3418	0.66633	0.0:1.0:0.0:0.0	.	2000	P00451	FA8_HUMAN	D	2000	ENSP00000353393:G2000D	ENSP00000353393:G2000D	G	-	2	0	F8	153783636	1.000000	0.71417	0.774000	0.31636	0.908000	0.53690	6.546000	0.73887	2.334000	0.79466	0.538000	0.68166	GGT		0.378	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		Missense_Mutation	17	25	0	0	0	1	0	17	25				
TXNDC2	84203	broad.mit.edu	37	18	9887074	9887074	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr18:9887074G>A	ENST00000306084.6	+	2	797	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.5_Missense_Mutation_p.E133K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	200	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAGAAGCCATCCA	0.577																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(598-600)Gaa>Aaa		thioredoxin domain containing 2 (spermatozoa)							152.0	154.0	153.0					18																	9887074		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887074G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.598G>A	18.37:g.9887074G>A	ENSP00000304908:p.Glu200Lys					TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K|TXNDC2_ENST00000536353.2_Intron	p.E200K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	797	+			200			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.598G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	g	1.272	-0.612710	0.03690	.	.	ENSG00000168454	ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16457	2.34;2.34	3.48	-6.08	0.02151	.	1.613580	0.03995	N	0.295530	T	0.05456	0.0144	N	0.02539	-0.55	0.09310	N	1	B	0.18013	0.025	B	0.11329	0.006	T	0.34204	-0.9838	9	.	.	.	-1.8327	6.0796	0.19935	0.4735:0.3503:0.1761:0.0	.	200	Q86VQ3	TXND2_HUMAN	K	133;200;200	ENSP00000350419:E133K;ENSP00000304908:E200K	.	E	+	1	0	TXNDC2	9877074	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.583000	0.00904	-0.859000	0.04105	-0.300000	0.09419	GAA		0.577	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			5	294	0	0	0	1	0	5	294				
TTN	7273	broad.mit.edu	37	2	179477176	179477176	+	Silent	SNP	G	G	A	rs397517598		TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr2:179477176G>A	ENST00000591111.1	-	216	45377	c.45153C>T	c.(45151-45153)gaC>gaT	p.D15051D	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.D14124D|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.D7752D|TTN_ENST00000460472.2_Silent_p.D7627D|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.D7819D|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Silent_p.D16692D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15051	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCGCCTGACGTCTCTCTTTT	0.458																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(50074-50076)gaC>gaT		titin							112.0	99.0	103.0					2																	179477176		1932	4141	6073	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179477176G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45153C>T	2.37:g.179477176G>A						TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.D7627D|TTN_ENST00000342992.6_Silent_p.D14124D|TTN_ENST00000342175.6_Silent_p.D7819D|TTN_ENST00000359218.5_Silent_p.D7752D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.D15051D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	p.D16692D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		266	50300	-			15051			Fibronectin type-III 21.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.50076C>T																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	28	0	0	0	1	0	3	28				
CYP4Z2P	163720	broad.mit.edu	37	1	47310359	47310360	+	RNA	INS	-	-	T	rs372212671		TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr1:47310359_47310360insT	ENST00000505841.1	-	0	1269					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										CAAAAACAAAACCCTAGATATT	0.421																																						ENST00000505841.1																			0																																																			0							g.chr1:47310359_47310360insT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47310359_47310360insT								NR_002788.2						0	1269	-								Q66ZJ5	RNA	INS	ENST00000505841.1	37																																																																																						0.421	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		5	9						5	9	---	---	---	---
PMS2P4	5382	broad.mit.edu	37	7	66762433	66762433	+	RNA	DEL	A	A	-	rs530279026	byFrequency	TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr7:66762433delA	ENST00000414507.1	-	0	184				Y_RNA_ENST00000364695.1_RNA					postmeiotic segregation increased 2 pseudogene 4																		tctcaaaaagaaaaaaaaaaa	0.408													|||unknown(HR)	2771	0.553315	0.6127	0.5648	5008	,	,		17205	0.5159		0.5129	False		,,,				2504	0.545					ENST00000414507.1																			0																																																			0							g.chr7:66762433delA	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66762433delA														0	184	-									RNA	DEL	ENST00000414507.1	37																																																																																						0.408	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		5	8						5	8	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89720803	89720804	+	Frame_Shift_Ins	INS	-	-	A	rs398123330		TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr10:89720803_89720804insA	ENST00000371953.3	+	8	2311_2312	c.954_955insA	c.(955-957)actfs	p.T319fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	319	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB). {ECO:0000269|PubMed:9090379}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.L318fs*2(27)|p.T319fs*1(24)|p.T319fs*6(6)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.V317fs*6(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L318fs*3(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T318fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATCTAGTACTTACTTTAACAAA	0.327		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		121	Deletion - Frameshift(70)|Whole gene deletion(37)|Deletion - In frame(6)|Insertion - Frameshift(6)|Unknown(2)	p.0?(37)|p.L318fs*2(27)|p.T319fs*1(24)|p.T319fs*6(6)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.V317fs*6(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L318fs*3(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T318fs*2(1)	endometrium(38)|central_nervous_system(29)|prostate(17)|skin(8)|breast(7)|ovary(6)|lung(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|soft_tissue(2)|urinary_tract(2)|liver(2)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CD972424|CI075686	PTEN	D|I	rs146650273	c.(952-957)ctctttfs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720803_89720804insA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.955dupA	10.37:g.89720804_89720804dupA	ENSP00000361021:p.Thr319fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.F319fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	8	2311_2312	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	319		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB).	C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.954_955insA	CCDS31238.1																																																																																				0.327	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		23	69						23	69	---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396277	+	RNA	DEL	G	G	-	rs199682553|rs112820043	byFrequency	TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr10:118396277delG	ENST00000298771.7	+	0	961				PNLIPRP2_ENST00000537242.1_RNA|PNLIPRP2_ENST00000433618.4_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTT	0.423													G|GG|G|insertion	318	0.0634984	0.0575	0.0562	5008	,	,		21368	0.0754		0.0477	False		,,,				2504	0.0808					ENST00000537242.1																			0				endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16								pancreatic lipase-related protein 2				1549,2079		408,733,673	95.0	86.0	89.0			-3.9	0.0	10	dbSNP_134	88	3867,3989		1053,1761,1114	no	intron	PNLIPRP2	NM_005396.4		1461,2494,1787	A1A1,A1R,RR		49.2235,42.6957,47.1613			118396277	5416,6068	1879	4103	5982			5408				galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	g.chr10:118396277delG	M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118396277delG						PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA		NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN		all cancers(201;0.015)	0	962	+								A8K627|Q6IB55	RNA	DEL	ENST00000298771.7	37																																																																																						0.423	PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396		4	2						4	2	---	---	---	---
DUSP8	1850	broad.mit.edu	37	11	1577819	1577820	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr11:1577819_1577820delCG	ENST00000397374.3	-	7	1933_1934	c.1806_1807delCG	c.(1804-1809)cgcggcfs	p.G603fs	DUSP8_ENST00000331588.4_Frame_Shift_Del_p.G603fs|DUSP8_ENST00000528778.1_5'Flank	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	603					inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		AGCTCCTCGCCGCGCGCGCGCC	0.752																																						ENST00000397374.3																			0				endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(1804-1809)cggcfs		dual specificity phosphatase 8				31,2529		3,25,1252						2.2	0.4			2	79,5245		11,57,2594	no	frameshift	DUSP8	NM_004420.2		14,82,3846	A1A1,A1R,RR		1.4838,1.2109,1.3952				110,7774				SO:0001589	frameshift_variant	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1577819_1577820delCG		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3074	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""H1 phosphatase, vaccinia virus homolog"""	602038	"""chromosome 11 open reading frame 81"""	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.1806_1807delCG	11.37:g.1577827_1577828delCG	ENSP00000380530:p.Gly603fs					DUSP8_ENST00000331588.4_Frame_Shift_Del_p.RG602fs	p.RG602fs	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	7	1933_1934	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	602					Q86SS8	Frame_Shift_Del	DEL	ENST00000397374.3	37	c.1806_1807delCG	CCDS7724.1																																																																																				0.752	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420		3	5						3	5	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29652974	29652974	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr17:29652974delT	ENST00000358273.4	+	37	5355	c.4972delT	c.(4972-4974)tttfs	p.F1658fs	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Frame_Shift_Del_p.F1637fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1658	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAAAACAGACTTTCTCTCTAA	0.418			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(4972-4974)ttfs		neurofibromin 1							154.0	141.0	145.0					17																	29652974		2203	4300	6503	SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29652974delT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4972delT	17.37:g.29652974delT	ENSP00000351015:p.Phe1658fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Del_p.F1637fs|NF1_ENST00000581113.2_3'UTR	p.F1658fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	37	5355	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1658			CRAL-TRIO.		O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.4972delT	CCDS42292.1																																																																																				0.418	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		22	92						22	92	---	---	---	---
