#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
ICAM5	7087	broad.mit.edu	37	19	10404518	10404518	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:10404518A>C	ENST00000221980.4	+	7	1673	c.1610A>C	c.(1609-1611)gAg>gCg	p.E537A		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	537	Ig-like C2-type 6.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCCGTCATCGAGGGGCTGTTG	0.662																																						ENST00000221980.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21						c.(1609-1611)gAg>gCg		intercellular adhesion molecule 5, telencephalin							72.0	78.0	76.0					19																	10404518		2203	4300	6503	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10404518A>C	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1610A>C	19.37:g.10404518A>C	ENSP00000221980:p.Glu537Ala						p.E537A	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		7	1673	+			537			Ig-like C2-type 6.		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.1610A>C	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	A	9.380	1.072640	0.20147	.	.	ENSG00000105376	ENST00000221980	T	0.08807	3.05	5.37	3.07	0.35406	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.354418	0.24005	N	0.042439	T	0.05456	0.0144	N	0.26130	0.795	0.27474	N	0.95277	B	0.31968	0.349	B	0.33846	0.171	T	0.35649	-0.9780	10	0.09590	T	0.72	-30.8883	8.4899	0.33093	0.674:0.0:0.0:0.326	.	537	Q9UMF0	ICAM5_HUMAN	A	537	ENSP00000221980:E537A	ENSP00000221980:E537A	E	+	2	0	ICAM5	10265518	0.999000	0.42202	0.712000	0.30502	0.064000	0.16182	1.646000	0.37249	0.867000	0.35654	0.368000	0.22195	GAG		0.662	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		21	93	0	0	0	0.00047179	0	21	93				
BAI3	577	broad.mit.edu	37	6	70049277	70049277	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:70049277A>T	ENST00000370598.1	+	26	4161	c.3340A>T	c.(3340-3342)Atg>Ttg	p.M1114L	BAI3_ENST00000238918.8_Missense_Mutation_p.M320L|BAI3_ENST00000546190.1_Missense_Mutation_p.M78L	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1114					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTTGACGTGGATGTCTGCGGT	0.453																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(3340-3342)Atg>Ttg		brain-specific angiogenesis inhibitor 3							305.0	277.0	286.0					6																	70049277		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70049277A>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3340A>T	6.37:g.70049277A>T	ENSP00000359630:p.Met1114Leu					BAI3_ENST00000238918.8_Missense_Mutation_p.M320L|BAI3_ENST00000546190.1_Missense_Mutation_p.M78L	p.M1114L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			26	4161	+		all_lung(197;0.212)	1114					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3340A>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.298027	0.60086	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.40756	1.51;1.51;1.02	5.74	5.74	0.90152	GPCR, family 2-like (1);	0.039120	0.85682	D	0.000000	T	0.33059	0.0850	N	0.15975	0.35	0.54753	D	0.999983	P;P;B	0.40032	0.699;0.699;0.003	P;P;B	0.58130	0.833;0.768;0.015	T	0.30621	-0.9972	10	0.25751	T	0.34	.	16.0356	0.80625	1.0:0.0:0.0:0.0	.	320;1114;1114	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	L	1114;320;78	ENSP00000359630:M1114L;ENSP00000238918:M320L;ENSP00000441821:M78L	ENSP00000238918:M320L	M	+	1	0	BAI3	70105998	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.339000	0.96797	2.187000	0.69744	0.528000	0.53228	ATG		0.453	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			44	171	0	0	0	0.000680045	0	44	171				
METTL7A	25840	broad.mit.edu	37	12	51318927	51318927	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:51318927T>C	ENST00000548553.1	+	2	1087	c.106T>C	c.(106-108)Ttc>Ctc	p.F36L	METTL7A_ENST00000332160.4_Missense_Mutation_p.F36L			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	36						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CAAAAAATGGTTCCCCTACTT	0.488																																						ENST00000548553.1																			0				endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						c.(106-108)Ttc>Ctc		methyltransferase like 7A							126.0	114.0	118.0					12																	51318927		2203	4300	6503	SO:0001583	missense	25840					endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	g.chr12:51318927T>C		CCDS8804.1	12q13.12	2013-06-20			ENSG00000185432	ENSG00000185432			24550	protein-coding gene	gene with protein product						12975309	Standard	XM_006719332		Approved	DKFZP586A0522	uc001rxb.3	Q9H8H3	OTTHUMG00000169484	ENST00000548553.1:c.106T>C	12.37:g.51318927T>C	ENSP00000448785:p.Phe36Leu					METTL7A_ENST00000332160.4_Missense_Mutation_p.F36L	p.F36L			Q9H8H3	MET7A_HUMAN			2	1087	+			36					Q9H7R3|Q9UHZ7|Q9Y422	Missense_Mutation	SNP	ENST00000548553.1	37	c.106T>C	CCDS8804.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.708004	0.30322	.	.	ENSG00000185432	ENST00000548553;ENST00000550502;ENST00000332160;ENST00000433599	T;T;T	0.23147	2.25;1.92;2.25	5.0	3.84	0.44239	.	0.268823	0.42548	N	0.000687	T	0.27419	0.0673	M	0.69523	2.12	0.40179	D	0.977262	B;B	0.12013	0.001;0.005	B;B	0.20577	0.003;0.03	T	0.09509	-1.0671	10	0.49607	T	0.09	-0.4382	7.859	0.29499	0.0:0.1604:0.0:0.8396	.	36;36	B4DDW1;Q9H8H3	.;MET7A_HUMAN	L	36	ENSP00000448785:F36L;ENSP00000450239:F36L;ENSP00000331787:F36L	ENSP00000331787:F36L	F	+	1	0	METTL7A	49605194	0.918000	0.31147	0.595000	0.28798	0.152000	0.21847	2.092000	0.41700	1.036000	0.39998	0.533000	0.62120	TTC		0.488	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404294.2	NM_014033		17	68	0	0	0	0.000566183	0	17	68				
PRKAA2	5563	broad.mit.edu	37	1	57161759	57161759	+	Missense_Mutation	SNP	C	C	T	rs141766544		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:57161759C>T	ENST00000371244.4	+	6	781	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.R239C(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	ATATCTCAATCGTTCTGTCGC	0.428																																						ENST00000371244.4																			1	Substitution - Missense(1)	p.R239C(1)	skin(1)	breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(715-717)Cgt>Tgt		protein kinase, AMP-activated, alpha 2 catalytic subunit							248.0	248.0	248.0					1																	57161759		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57161759C>T	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.715C>T	1.37:g.57161759C>T	ENSP00000360290:p.Arg239Cys						p.R239C	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			6	781	+			239			Protein kinase.		Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.715C>T	CCDS605.1	.	.	.	.	.	.	.	.	.	.	C	35	5.494034	0.96339	.	.	ENSG00000162409	ENST00000371244	T	0.66815	-0.23	5.98	5.98	0.97165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72407	0.3456	L	0.35288	1.05	0.80722	D	1	D	0.76494	0.999	P	0.57009	0.811	T	0.73760	-0.3881	10	0.72032	D	0.01	-20.4177	20.4434	0.99119	0.0:1.0:0.0:0.0	.	239	P54646	AAPK2_HUMAN	C	239	ENSP00000360290:R239C	ENSP00000360290:R239C	R	+	1	0	PRKAA2	56934347	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.487000	0.81328	2.838000	0.97847	0.655000	0.94253	CGT		0.428	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		10	337	0	0	0	0.000978159	0	10	337				
INTU	27152	broad.mit.edu	37	4	128626838	128626838	+	Silent	SNP	A	A	G			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:128626838A>G	ENST00000335251.6	+	11	1762	c.1659A>G	c.(1657-1659)aaA>aaG	p.K553K	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	553					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TAGCAGCAAAACAAAGAATTG	0.438																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(1657-1659)aaA>aaG		inturned planar cell polarity protein							180.0	165.0	170.0					4																	128626838		2203	4300	6503	SO:0001819	synonymous_variant	27152							g.chr4:128626838A>G	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1659A>G	4.37:g.128626838A>G						INTU_ENST00000512995.1_3'UTR	p.K553K	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			11	1762	+			553					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Silent	SNP	ENST00000335251.6	37	c.1659A>G	CCDS34061.1																																																																																				0.438	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		25	127	0	0	0	0.00278032	0	25	127				
HMCN1	83872	broad.mit.edu	37	1	185931777	185931777	+	Silent	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:185931777C>T	ENST00000271588.4	+	12	2185	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.I652I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	652	Ig-like C2-type 3.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATATGTTTATCGTGGGTTCAC	0.408																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(1954-1956)atC>atT		hemicentin 1							190.0	177.0	182.0					1																	185931777		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185931777C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1956C>T	1.37:g.185931777C>T						HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.I652I	p.I652I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			12	2185	+			652			Ig-like C2-type 3.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.1956C>T	CCDS30956.1																																																																																				0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		21	95	0	0	0	0.00188189	0	21	95				
C9	735	broad.mit.edu	37	5	39311238	39311238	+	Splice_Site	SNP	C	C	T	rs544567518		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:39311238C>T	ENST00000263408.4	-	7	1207		c.e7+1			NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9						complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCTAGGCATACCTTTCCGCTT	0.368																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.e7+1		complement component 9							98.0	99.0	99.0					5																	39311238		2203	4299	6502	SO:0001630	splice_region_variant	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39311238C>T		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1111+1G>A	5.37:g.39311238C>T								NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		7	1207	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)							Splice_Site	SNP	ENST00000263408.4	37		CCDS3929.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298714	0.40694	.	.	ENSG00000113600	ENST00000263408	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7592	0.88460	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C9	39346995	1.000000	0.71417	0.978000	0.43139	0.111000	0.19643	6.243000	0.72384	2.721000	0.93114	0.655000	0.94253	.		0.368	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3		Intron	17	45	0	0	0	0.000422831	0	17	45				
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs576887296|rs398124272	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37.0	35.0	35.0					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q170Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		3	39	0	0	0	6.4e-05	0	3	39				
DSTYK	25778	broad.mit.edu	37	1	205132935	205132935	+	Silent	SNP	G	G	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:205132935G>A	ENST00000367162.3	-	4	1503	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Silent_p.F491F	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	491					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GGGTTCCGACGAAGCTTTCCC	0.473																																						ENST00000367162.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(1471-1473)ttC>ttT		dual serine/threonine and tyrosine protein kinase							135.0	115.0	122.0					1																	205132935		2203	4300	6503	SO:0001819	synonymous_variant	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205132935G>A	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.1473C>T	1.37:g.205132935G>A						DSTYK_ENST00000367161.3_Silent_p.F491F|DSTYK_ENST00000367160.4_Intron	p.F491F	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN			4	1503	-			491					B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Silent	SNP	ENST00000367162.3	37	c.1473C>T	CCDS1451.1																																																																																				0.473	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		12	52	0	0	0	0.000978159	0	12	52				
TAAR8	83551	broad.mit.edu	37	6	132874314	132874314	+	Silent	SNP	G	G	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:132874314G>A	ENST00000275200.1	+	1	483	c.483G>A	c.(481-483)acG>acA	p.T161T		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	161					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TGCCTCTCACGTACAGCGGTG	0.488																																						ENST00000275200.1																			0				endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(481-483)acG>acA		trace amine associated receptor 8							315.0	298.0	304.0					6																	132874314		2203	4300	6503	SO:0001819	synonymous_variant	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874314G>A	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.483G>A	6.37:g.132874314G>A							p.T161T	NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	483	+	Breast(56;0.112)		161					Q5VUQ0	Silent	SNP	ENST00000275200.1	37	c.483G>A	CCDS5154.1																																																																																				0.488	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		10	341	0	0	0	0.000673444	0	10	341				
PDZD4	57595	broad.mit.edu	37	X	153073955	153073955	+	Silent	SNP	G	G	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:153073955G>A	ENST00000164640.4	-	2	347	c.156C>T	c.(154-156)cgC>cgT	p.R52R	PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron|PDZD4_ENST00000393758.2_5'UTR	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	52						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGGGGGCTGCGTCTCAGCA	0.642																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(154-156)cgC>cgT		PDZ domain containing 4							39.0	32.0	34.0					X																	153073955		2201	4298	6499	SO:0001819	synonymous_variant	57595					cell cortex		g.chrX:153073955G>A	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.156C>T	X.37:g.153073955G>A						PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron	p.R52R	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			2	347	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		52					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Silent	SNP	ENST00000164640.4	37	c.156C>T	CCDS14732.1																																																																																				0.642	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		5	7	0	0	0	0.00116845	0	5	7				
XPO6	23214	broad.mit.edu	37	16	28115941	28115941	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:28115941C>T	ENST00000304658.5	-	21	3372	c.2872G>A	c.(2872-2874)Gtg>Atg	p.V958M	XPO6_ENST00000565698.1_Missense_Mutation_p.V944M	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	958					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CTGGCCAGCACGGTGGACTTG	0.587																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(2872-2874)Gtg>Atg		exportin 6							69.0	73.0	72.0					16																	28115941		2059	4211	6270	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28115941C>T	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2872G>A	16.37:g.28115941C>T	ENSP00000302790:p.Val958Met					XPO6_ENST00000565698.1_Missense_Mutation_p.V944M	p.V958M	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			21	3372	-			958					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.2872G>A	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674519	0.88445	.	.	ENSG00000169180	ENST00000304658	T	0.69306	-0.39	6.17	5.23	0.72850	Armadillo-type fold (1);	0.115570	0.64402	D	0.000018	T	0.77738	0.4175	M	0.66939	2.045	0.80722	D	1	D;D	0.67145	0.996;0.995	P;P	0.62435	0.902;0.765	T	0.80306	-0.1438	10	0.72032	D	0.01	-18.4053	13.4045	0.60903	0.0:0.9248:0.0:0.0752	.	958;958	B7ZM10;Q96QU8	.;XPO6_HUMAN	M	958	ENSP00000302790:V958M	ENSP00000302790:V958M	V	-	1	0	XPO6	28023442	0.999000	0.42202	0.985000	0.45067	0.986000	0.74619	4.088000	0.57678	1.634000	0.50500	0.655000	0.94253	GTG		0.587	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		7	60	0	0	0	0.000157383	0	7	60				
KCNT2	343450	broad.mit.edu	37	1	196254844	196254844	+	Silent	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:196254844C>T	ENST00000294725.9	-	23	3555	c.2640G>A	c.(2638-2640)ctG>ctA	p.L880L	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367433.5_Silent_p.L856L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.L806L|KCNT2_ENST00000609185.1_Silent_p.L806L			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	880					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGCAAAAGGCAGTCGAAACA	0.373																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2566-2568)ctG>ctA		potassium channel, subfamily T, member 2							85.0	83.0	83.0					1																	196254844		2203	4300	6503	SO:0001819	synonymous_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196254844C>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2640G>A	1.37:g.196254844C>T						KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Silent_p.L880L|KCNT2_ENST00000367431.4_Silent_p.L806L|KCNT2_ENST00000451324.2_3'UTR	p.L856L			Q6UVM3	KCNT2_HUMAN			22	2669	-			880					Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	c.2568G>A	CCDS1384.1																																																																																				0.373	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		15	44	0	0	0	0.000308642	0	15	44				
KAT5	10524	broad.mit.edu	37	11	65484372	65484372	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:65484372A>G	ENST00000377046.3	+	11	1356	c.1084A>G	c.(1084-1086)Acg>Gcg	p.T362A	KAT5_ENST00000352980.4_Missense_Mutation_p.T310A|KAT5_ENST00000530446.1_Missense_Mutation_p.T343A|KAT5_ENST00000341318.4_Missense_Mutation_p.T395A|KAT5_ENST00000534650.1_Missense_Mutation_p.T151A	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	362	MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GAAAGAATCAACGGAAGACTA	0.592																																						ENST00000341318.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						c.(1183-1185)Acg>Gcg		K(lysine) acetyltransferase 5							153.0	143.0	146.0					11																	65484372		2201	4297	6498	SO:0001583	missense	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65484372A>G	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.1084A>G	11.37:g.65484372A>G	ENSP00000366245:p.Thr362Ala					KAT5_ENST00000352980.4_Missense_Mutation_p.T310A|KAT5_ENST00000530446.1_Missense_Mutation_p.T343A|KAT5_ENST00000534650.1_Missense_Mutation_p.T151A|KAT5_ENST00000377046.3_Missense_Mutation_p.T362A	p.T395A	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN			10	1417	+			362					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	ENST00000377046.3	37	c.1183A>G	CCDS31610.1	.	.	.	.	.	.	.	.	.	.	A	2.124	-0.400657	0.04865	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000534650	T;T;T;T	0.41065	1.02;1.04;1.01;1.04	5.58	5.58	0.84498	Acyl-CoA N-acyltransferase (2);MOZ/SAS-like protein (1);	0.000000	0.85682	D	0.000000	T	0.20007	0.0481	N	0.02973	-0.45	0.80722	D	1	B;B;B;B	0.31548	0.053;0.328;0.042;0.094	B;B;B;B	0.36186	0.145;0.219;0.051;0.206	T	0.18681	-1.0329	10	0.02654	T	1	-10.3484	13.7037	0.62624	1.0:0.0:0.0:0.0	.	343;395;310;362	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	A	362;310;395;343;151	ENSP00000366245:T362A;ENSP00000344955:T310A;ENSP00000340330:T395A;ENSP00000434765:T343A	ENSP00000340330:T395A	T	+	1	0	KAT5	65240948	0.952000	0.32445	0.371000	0.25978	0.112000	0.19704	4.209000	0.58493	2.131000	0.65755	0.533000	0.62120	ACG		0.592	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388		22	104	0	0	0	0.00278032	0	22	104				
BAZ2B	29994	broad.mit.edu	37	2	160193505	160193505	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:160193505C>T	ENST00000392783.2	-	33	6239	c.5744G>A	c.(5743-5745)tGc>tAc	p.C1915Y	BAZ2B_ENST00000355831.2_Missense_Mutation_p.C1881Y|BAZ2B_ENST00000343439.5_Missense_Mutation_p.C1815Y|BAZ2B_ENST00000392782.1_Missense_Mutation_p.C1879Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1915					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTGCTGAATGCACAGAGCTAC	0.363																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(5743-5745)tGc>tAc		bromodomain adjacent to zinc finger domain, 2B							94.0	88.0	90.0					2																	160193505		1838	4088	5926	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160193505C>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.5744G>A	2.37:g.160193505C>T	ENSP00000376534:p.Cys1915Tyr					BAZ2B_ENST00000355831.2_Missense_Mutation_p.C1881Y|BAZ2B_ENST00000343439.5_Missense_Mutation_p.C1815Y|BAZ2B_ENST00000392782.1_Missense_Mutation_p.C1879Y	p.C1915Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			33	6239	-			1915					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.5744G>A	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976440	0.34848	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000426648	T;T;T;T	0.60299	0.28;0.27;0.28;0.2	5.44	5.44	0.79542	.	0.000000	0.40728	U	0.001037	T	0.77705	0.4170	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.76615	-0.2894	10	0.42905	T	0.14	-5.0936	19.6436	0.95767	0.0:1.0:0.0:0.0	.	1879;1915	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	Y	1879;1915;1881;1815;168	ENSP00000376533:C1879Y;ENSP00000376534:C1915Y;ENSP00000348087:C1881Y;ENSP00000339670:C1815Y	ENSP00000339670:C1815Y	C	-	2	0	BAZ2B	159901751	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.712000	0.92718	0.650000	0.86243	TGC		0.363	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			9	83	0	0	0	0.000274275	0	9	83				
BEST3	144453	broad.mit.edu	37	12	70091546	70091546	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:70091546A>T	ENST00000330891.5	-	2	259	c.33T>A	c.(31-33)aaT>aaA	p.N11K	BEST3_ENST00000331471.4_Missense_Mutation_p.N11K|BEST3_ENST00000533674.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000553096.1_Intron|BEST3_ENST00000551160.1_Intron|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000266661.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	11					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AAAAAGTTGCATTTGCTACTT	0.353																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(31-33)aaT>aaA		bestrophin 3							113.0	110.0	111.0					12																	70091546		1830	4090	5920	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70091546A>T	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.33T>A	12.37:g.70091546A>T	ENSP00000332413:p.Asn11Lys					BEST3_ENST00000551160.1_Intron|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.N11K|BEST3_ENST00000553096.1_Intron|BEST3_ENST00000533674.1_Intron	p.N11K	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		2	259	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		11					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.33T>A	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	A	16.20	3.054785	0.55325	.	.	ENSG00000127325	ENST00000331471;ENST00000330891;ENST00000548658	D;D;D	0.98362	-4.89;-4.89;-4.89	5.84	3.47	0.39725	.	0.000000	0.85682	D	0.000000	D	0.98077	0.9366	M	0.82323	2.585	0.80722	D	1	P;B	0.46395	0.877;0.081	P;B	0.51742	0.678;0.051	D	0.97098	0.9795	10	0.40728	T	0.16	-24.9836	10.5116	0.44866	0.8665:0.0:0.1335:0.0	.	11;11	Q8N1M1;Q8N1M1-1	BEST3_HUMAN;.	K	11	ENSP00000329064:N11K;ENSP00000332413:N11K;ENSP00000446575:N11K	ENSP00000332413:N11K	N	-	3	2	BEST3	68377813	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.106000	0.57804	1.038000	0.40049	0.528000	0.53228	AAT		0.353	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		28	110	0	0	0	0.001512	0	28	110				
ZNF442	79973	broad.mit.edu	37	19	12461101	12461101	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:12461101T>C	ENST00000242804.4	-	6	1880	c.1298A>G	c.(1297-1299)tAt>tGt	p.Y433C	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Missense_Mutation_p.Y364C	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	433					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(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TTTACATTCATAGGGTTTCTC	0.413																																						ENST00000242804.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1297-1299)tAt>tGt		zinc finger protein 442							94.0	97.0	96.0					19																	12461101		2203	4300	6503	SO:0001583	missense	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461101T>C	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1298A>G	19.37:g.12461101T>C	ENSP00000242804:p.Tyr433Cys					ZNF442_ENST00000438182.1_Missense_Mutation_p.Y364C	p.Y433C	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN			6	1880	-			433					B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	c.1298A>G	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.839621	0.51057	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.25414	1.8;1.8	0.832	0.832	0.18867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45074	0.1324	M	0.80332	2.49	0.30967	N	0.722984	D	0.89917	1.0	D	0.97110	1.0	T	0.47249	-0.9132	9	0.87932	D	0	.	2.9212	0.05770	0.4068:0.0:0.0:0.5932	.	433	Q9H7R0	ZN442_HUMAN	C	433;364	ENSP00000242804:Y433C;ENSP00000388634:Y364C	ENSP00000242804:Y433C	Y	-	2	0	ZNF442	12322101	0.001000	0.12720	0.953000	0.39169	0.793000	0.44817	0.188000	0.17018	0.617000	0.30160	0.260000	0.18958	TAT		0.413	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		4	87	0	0	0	0.00116845	0	4	87				
UTRN	7402	broad.mit.edu	37	6	145093097	145093097	+	Silent	SNP	A	A	G			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:145093097A>G	ENST00000367545.3	+	58	8550	c.8550A>G	c.(8548-8550)caA>caG	p.Q2850Q	UTRN_ENST00000367526.4_Silent_p.Q405Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2850	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACTCTTTCAATCCCTTGGTA	0.269																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(8548-8550)caA>caG		utrophin							64.0	69.0	68.0					6																	145093097		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145093097A>G	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8550A>G	6.37:g.145093097A>G						UTRN_ENST00000367526.4_Silent_p.Q405Q	p.Q2850Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	58	8550	+		Ovarian(120;0.218)	2850			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.8550A>G	CCDS34547.1																																																																																				0.269	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			4	85	0	0	0	0.00116845	0	4	85				
UGT2B17	7367	broad.mit.edu	37	4	69416515	69416515	+	Missense_Mutation	SNP	G	G	C	rs377204498		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:69416515G>C	ENST00000317746.2	-	5	1235	c.1193C>G	c.(1192-1194)gCg>gGg	p.A398G		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	398					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	ATGTTGATCCGCAAACAAGGG	0.463																																					Melanoma(18;649 833 28984 37818 38500)	ENST00000317746.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						c.(1192-1194)gCg>gGg		UDP glucuronosyltransferase 2 family, polypeptide B17							122.0	96.0	105.0					4																	69416515		2102	3970	6072	SO:0001583	missense	7367				steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69416515G>C	U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1193C>G	4.37:g.69416515G>C	ENSP00000320401:p.Ala398Gly						p.A398G	NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN			5	1235	-			398						Missense_Mutation	SNP	ENST00000317746.2	37	c.1193C>G	CCDS3523.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.286964	0.00020	.	.	ENSG00000197888	ENST00000317746	T	0.52754	0.65	2.7	-0.991	0.10235	.	0.163682	0.38436	U	0.001681	T	0.21307	0.0513	N	0.11698	0.16	0.09310	N	1	.	.	.	.	.	.	T	0.32745	-0.9895	8	0.02654	T	1	.	11.3198	0.49415	0.0:0.5198:0.4802:0.0	.	.	.	.	G	398	ENSP00000320401:A398G	ENSP00000320401:A398G	A	-	2	0	UGT2B17	69099110	0.000000	0.05858	0.108000	0.21378	0.078000	0.17371	-1.423000	0.02450	-0.100000	0.12241	0.393000	0.25936	GCG		0.463	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077		56	62	0	0	0	0.000781405	0	56	62				
GPR112	139378	broad.mit.edu	37	X	135405107	135405107	+	Missense_Mutation	SNP	G	G	A	rs142877839		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:135405107G>A	ENST00000394143.1	+	5	532	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	GPR112_ENST00000370652.1_Missense_Mutation_p.A81T|GPR112_ENST00000287534.4_Missense_Mutation_p.A18T|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	81					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TACTAATAACGCCCTCCTGGG	0.448													G|||	1	0.000264901	0.0	0.0	3775	,	,		14048	0.001		0.0	False		,,,				2504	0.0					ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(241-243)Gcc>Acc		G protein-coupled receptor 112							126.0	117.0	121.0					X																	135405107		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135405107G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.241G>A	X.37:g.135405107G>A	ENSP00000377699:p.Ala81Thr					GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.A81T|GPR112_ENST00000287534.4_Missense_Mutation_p.A18T	p.A81T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			5	532	+	Acute lymphoblastic leukemia(192;0.000127)		81					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.241G>A	CCDS35409.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.010	-1.794628	0.00617	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000287534	T;T;T	0.26660	1.72;1.72;1.88	5.62	-3.42	0.04825	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.11793	0.0287	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40794	-0.9544	9	0.02654	T	1	.	6.6765	0.23098	0.5944:0.1183:0.2873:0.0	.	81	Q8IZF6	GP112_HUMAN	T	81;81;18	ENSP00000377699:A81T;ENSP00000359686:A81T;ENSP00000287534:A18T	ENSP00000287534:A18T	A	+	1	0	GPR112	135232773	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.046000	0.14035	-1.043000	0.03258	-1.496000	0.00964	GCC		0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			53	36	0	0	0	0.000781405	0	53	36				
PAK2	5062	broad.mit.edu	37	3	196509570	196509570	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:196509570T>A	ENST00000327134.3	+	2	375	c.53T>A	c.(52-54)aTg>aAg	p.M18K	RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	18					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CCTGTGCGAATGAGCAGCACC	0.443																																						ENST00000327134.3																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12						c.(52-54)aTg>aAg		p21 protein (Cdc42/Rac)-activated kinase 2							120.0	125.0	124.0					3																	196509570		2203	4300	6503	SO:0001583	missense	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196509570T>A	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.53T>A	3.37:g.196509570T>A	ENSP00000314067:p.Met18Lys						p.M18K	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	2	375	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		18					Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	c.53T>A	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	T	15.38	2.817561	0.50633	.	.	ENSG00000180370	ENST00000327134	T	0.68025	-0.3	5.21	5.21	0.72293	.	0.081660	0.85682	D	0.000000	T	0.59128	0.2171	L	0.44542	1.39	0.80722	D	1	B	0.22683	0.073	B	0.20184	0.028	T	0.55276	-0.8166	10	0.28530	T	0.3	.	15.084	0.72135	0.0:0.0:0.0:1.0	.	18	Q13177	PAK2_HUMAN	K	18	ENSP00000314067:M18K	ENSP00000314067:M18K	M	+	2	0	PAK2	197993967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.527000	0.60573	1.988000	0.58038	0.533000	0.62120	ATG		0.443	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		10	216	0	0	0	0.000978159	0	10	216				
ASTN1	460	broad.mit.edu	37	1	176913135	176913135	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:176913135C>T	ENST00000367654.3	-	14	2504	c.2293G>A	c.(2293-2295)Ggt>Agt	p.G765S	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.G757S|ASTN1_ENST00000367657.3_Missense_Mutation_p.G757S|ASTN1_ENST00000361833.2_Missense_Mutation_p.G757S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	765					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGTCTAAACCACGAGCAAAG	0.483																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(2293-2295)Ggt>Agt		astrotactin 1							120.0	113.0	115.0					1																	176913135		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176913135C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2293G>A	1.37:g.176913135C>T	ENSP00000356626:p.Gly765Ser					ASTN1_ENST00000424564.2_Missense_Mutation_p.G757S|ASTN1_ENST00000367657.3_Missense_Mutation_p.G757S|ASTN1_ENST00000361833.2_Missense_Mutation_p.G757S|ASTN1_ENST00000281881.3_5'UTR	p.G765S			O14525	ASTN1_HUMAN			14	2306	-			765					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2293G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.136306	0.94517	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15718	2.4;2.82;2.82;2.41	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.27866	0.0686	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.996	T	0.06162	-1.0842	10	0.19590	T	0.45	-20.1378	18.966	0.92697	0.0:1.0:0.0:0.0	.	765;757;757	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	S	757;757;765;757;757	ENSP00000356629:G757S;ENSP00000354536:G757S;ENSP00000356626:G765S;ENSP00000395041:G757S	ENSP00000354536:G757S	G	-	1	0	ASTN1	175179758	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.837000	0.75354	2.576000	0.86940	0.655000	0.94253	GGT		0.483	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		17	59	0	0	0	0.00152264	0	17	59				
ZNF518B	85460	broad.mit.edu	37	4	10445720	10445720	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:10445720A>G	ENST00000326756.3	-	3	2671	c.2233T>C	c.(2233-2235)Tat>Cat	p.Y745H		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	745					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AAGTGTGGATATATTTGTTGA	0.468																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2233-2235)Tat>Cat		zinc finger protein 518B							135.0	135.0	135.0					4																	10445720		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445720A>G	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2233T>C	4.37:g.10445720A>G	ENSP00000317614:p.Tyr745His						p.Y745H	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	2671	-			745					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2233T>C	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329747	0.41297	.	.	ENSG00000178163	ENST00000326756	T	0.01538	4.79	6.02	0.561	0.17285	.	0.968666	0.08477	N	0.940030	T	0.01421	0.0046	L	0.29908	0.895	0.09310	N	1	P	0.46395	0.877	B	0.41723	0.365	T	0.41413	-0.9510	10	0.17832	T	0.49	-5.9707	1.3504	0.02171	0.5063:0.1452:0.208:0.1406	.	745	Q9C0D4	Z518B_HUMAN	H	745	ENSP00000317614:Y745H	ENSP00000317614:Y745H	Y	-	1	0	ZNF518B	10054818	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.372000	0.20467	0.496000	0.27904	-0.256000	0.11100	TAT		0.468	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		27	112	0	0	0	0.000720815	0	27	112				
KCNAB1	7881	broad.mit.edu	37	3	156234121	156234121	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:156234121G>A	ENST00000490337.1	+	11	992	c.928G>A	c.(928-930)Ggg>Agg	p.G310R	KCNAB1_ENST00000389636.5_Missense_Mutation_p.G281R|KCNAB1_ENST00000302490.8_Missense_Mutation_p.G292R|KCNAB1_ENST00000471742.1_Missense_Mutation_p.G299R|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Missense_Mutation_p.G263R	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	310					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATACGGAAACGGGGTGCCTGA	0.448																																						ENST00000302490.8																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(874-876)Ggg>Agg		potassium voltage-gated channel, shaker-related subfamily, beta member 1							96.0	97.0	96.0					3																	156234121		2203	4300	6503	SO:0001583	missense	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156234121G>A	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.928G>A	3.37:g.156234121G>A	ENSP00000419952:p.Gly310Arg					KCNAB1_ENST00000490337.1_Missense_Mutation_p.G310R|KCNAB1_ENST00000471742.1_Missense_Mutation_p.G299R|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Missense_Mutation_p.G263R|KCNAB1_ENST00000389636.5_Missense_Mutation_p.G281R	p.G292R	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		11	1745	+			310					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	c.874G>A	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409753	0.62399	.	.	ENSG00000169282	ENST00000490337;ENST00000389636;ENST00000471742;ENST00000302490;ENST00000389634	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	4.77	4.77	0.60923	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.44286	0.1286	L	0.45228	1.405	0.80722	D	1	B;B;B;B;B	0.18863	0.024;0.019;0.031;0.025;0.031	B;B;B;B;B	0.24269	0.052;0.03;0.011;0.007;0.011	T	0.37596	-0.9699	10	0.46703	T	0.11	-10.7145	16.9559	0.86259	0.0:0.0:1.0:0.0	.	281;263;292;299;310	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	R	310;281;299;292;263	ENSP00000419952:G310R;ENSP00000374287:G281R;ENSP00000418956:G299R;ENSP00000305858:G292R;ENSP00000374285:G263R	ENSP00000305858:G292R	G	+	1	0	KCNAB1	157716815	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	9.392000	0.97252	2.364000	0.80123	0.561000	0.74099	GGG		0.448	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		5	96	0	0	0	0.00116845	0	5	96				
DUS3L	56931	broad.mit.edu	37	19	5790299	5790299	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:5790299C>A	ENST00000309061.7	-	2	242	c.146G>T	c.(145-147)gGg>gTg	p.G49V	DUS3L_ENST00000320699.8_Missense_Mutation_p.G49V|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	49							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CTTCTCCTGCCCTTTGGCTTC	0.547																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(145-147)gGg>gTg		dihydrouridine synthase 3-like (S. cerevisiae)							77.0	72.0	74.0					19																	5790299		2203	4300	6503	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5790299C>A		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.146G>T	19.37:g.5790299C>A	ENSP00000311977:p.Gly49Val					DUS3L_ENST00000320699.8_Missense_Mutation_p.G49V|DUS3L_ENST00000590681.1_5'UTR	p.G49V	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			2	242	-			49					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.146G>T	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	0.701	-0.790918	0.02884	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.24350	2.27;1.86	4.74	1.38	0.22167	.	0.299395	0.34959	N	0.003555	T	0.19208	0.0461	L	0.48642	1.525	0.20403	N	0.999909	B;P	0.39717	0.161;0.684	B;B	0.35727	0.107;0.209	T	0.09509	-1.0671	10	0.54805	T	0.06	-10.0473	8.2212	0.31543	0.0:0.7206:0.0:0.2794	.	49;49	Q96G46-3;Q96G46	.;DUS3L_HUMAN	V	49	ENSP00000311977:G49V;ENSP00000315558:G49V	ENSP00000311977:G49V	G	-	2	0	DUS3L	5741299	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.718000	0.25866	0.158000	0.19367	-0.748000	0.03510	GGG		0.547	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		11	64	1	0	4.84862e-15	0.000978159	7.64024e-14	11	64				
GPS2	2874	broad.mit.edu	37	17	7217275	7217275	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:7217275G>C	ENST00000380728.2	-	6	730	c.430C>G	c.(430-432)Ctc>Gtc	p.L144V	GPS2_ENST00000391950.3_Missense_Mutation_p.L144V|GPS2_ENST00000389167.5_Missense_Mutation_p.L144V|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	144					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GCTGCCATGAGGGTGCCTGGG	0.547																																						ENST00000380728.2																			0				breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24						c.(430-432)Ctc>Gtc		G protein pathway suppressor 2							133.0	126.0	128.0					17																	7217275		2203	4300	6503	SO:0001583	missense	2874				cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	g.chr17:7217275G>C	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.430C>G	17.37:g.7217275G>C	ENSP00000370104:p.Leu144Val					RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Missense_Mutation_p.L144V|GPS2_ENST00000389167.5_Missense_Mutation_p.L144V	p.L144V			Q13227	GPS2_HUMAN			6	730	-		Prostate(122;0.157)	144					B4DXA1|Q6FHM8	Missense_Mutation	SNP	ENST00000380728.2	37	c.430C>G	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237038	0.79800	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.52057	0.68;0.68	4.88	4.88	0.63580	.	0.000000	0.64402	U	0.000009	T	0.49779	0.1577	L	0.32530	0.975	0.58432	D	0.999995	D	0.64830	0.994	P	0.54706	0.759	T	0.40701	-0.9549	10	0.34782	T	0.22	.	15.0613	0.71955	0.0:0.0:1.0:0.0	.	144	Q13227	GPS2_HUMAN	V	144	ENSP00000370104:L144V;ENSP00000379841:L144V	ENSP00000319371:L144V	L	-	1	0	GPS2	7157999	1.000000	0.71417	0.994000	0.49952	0.928000	0.56348	6.675000	0.74493	2.548000	0.85928	0.655000	0.94253	CTC		0.547	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489		35	90	0	0	0	0.00111076	0	35	90				
PREX2	80243	broad.mit.edu	37	8	68965472	68965472	+	Missense_Mutation	SNP	C	C	T	rs200682883		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:68965472C>T	ENST00000288368.4	+	9	1361	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	362					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAAAGAGAACGGCGGAAAGG	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		17067	0.0		0.001	False		,,,				2504	0.0					ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(1084-1086)Cgg>Tgg		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							112.0	108.0	109.0					8																	68965472		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68965472C>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1084C>T	8.37:g.68965472C>T	ENSP00000288368:p.Arg362Trp					PREX2_ENST00000529398.1_3'UTR	p.R362W	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			9	1361	+			362					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.1084C>T	CCDS6201.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	20.3	3.959465	0.74016	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	D	0.88586	-2.4	5.74	3.76	0.43208	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	D	0.92974	0.7764	M	0.66439	2.03	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.76575	0.988;0.929;0.968	D	0.93576	0.6908	10	0.87932	D	0	.	13.3616	0.60659	0.3985:0.6015:0.0:0.0	.	362;362;362	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	W	362	ENSP00000288368:R362W	ENSP00000288368:R362W	R	+	1	2	PREX2	69128026	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	1.554000	0.36266	1.395000	0.46643	0.655000	0.94253	CGG		0.383	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		7	59	0	0	0	0.000157383	0	7	59				
ANK2	287	broad.mit.edu	37	4	114275162	114275162	+	Silent	SNP	C	C	T	rs374140329		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:114275162C>T	ENST00000357077.4	+	38	5441	c.5388C>T	c.(5386-5388)gaC>gaT	p.D1796D	ANK2_ENST00000264366.6_Silent_p.D1763D|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1796					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCAAGGAGGACGTGCCAAAAA	0.517																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(5386-5388)gaC>gaT		ankyrin 2, neuronal		C	,,	0,4406		0,0,2203	109.0	120.0	117.0		,5388,	-5.6	0.8	4		117	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,intron	ANK2	NM_001127493.1,NM_001148.4,NM_020977.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	,1796/3958,	114275162	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114275162C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5388C>T	4.37:g.114275162C>T						ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.D1763D|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron	p.D1796D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5441	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1763			Repeat-rich region.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.5388C>T	CCDS3702.1																																																																																				0.517	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		22	130	0	0	0	0.00188189	0	22	130				
POM121L9P	29774	broad.mit.edu	37	22	24659741	24659741	+	RNA	SNP	G	G	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr22:24659741G>A	ENST00000414583.2	+	0	3266					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTGTGGGAGGGGGGAATGTTC	0.622																																						ENST00000414583.2																			0																																																			0							g.chr22:24659741G>A	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659741G>A								NR_003714.1						0	3266	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.622	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	12	0	0	0	6.4e-05	0	3	12				
HSPBAP1	79663	broad.mit.edu	37	3	122459555	122459555	+	Silent	SNP	G	G	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:122459555G>A	ENST00000306103.2	-	8	1247	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	368						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TACCTGTTTGGCCCACCTCCA	0.502																																						ENST00000306103.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1102-1104)ggC>ggT		HSPB (heat shock 27kDa) associated protein 1							210.0	201.0	204.0					3																	122459555		2203	4300	6503	SO:0001819	synonymous_variant	79663					cytoplasm		g.chr3:122459555G>A	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.1104C>T	3.37:g.122459555G>A						HSPBAP1_ENST00000383659.1_3'UTR	p.G368G	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	8	1247	-			368					Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Silent	SNP	ENST00000306103.2	37	c.1104C>T	CCDS3017.1																																																																																				0.502	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		29	296	0	0	0	0.00127121	0	29	296				
ICAM5	7087	broad.mit.edu	37	19	10404518	10404518	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr19:10404518A>C	ENST00000221980.4	+	7	1673	c.1610A>C	c.(1609-1611)gAg>gCg	p.E537A		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	537	Ig-like C2-type 6.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCCGTCATCGAGGGGCTGTTG	0.662																																						ENST00000221980.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21						c.(1609-1611)gAg>gCg		intercellular adhesion molecule 5, telencephalin							72.0	78.0	76.0					19																	10404518		2203	4300	6503	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10404518A>C	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1610A>C	19.37:g.10404518A>C	ENSP00000221980:p.Glu537Ala						p.E537A	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		7	1673	+			537			Ig-like C2-type 6.		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.1610A>C	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	A	9.380	1.072640	0.20147	.	.	ENSG00000105376	ENST00000221980	T	0.08807	3.05	5.37	3.07	0.35406	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.354418	0.24005	N	0.042439	T	0.05456	0.0144	N	0.26130	0.795	0.27474	N	0.95277	B	0.31968	0.349	B	0.33846	0.171	T	0.35649	-0.9780	10	0.09590	T	0.72	-30.8883	8.4899	0.33093	0.674:0.0:0.0:0.326	.	537	Q9UMF0	ICAM5_HUMAN	A	537	ENSP00000221980:E537A	ENSP00000221980:E537A	E	+	2	0	ICAM5	10265518	0.999000	0.42202	0.712000	0.30502	0.064000	0.16182	1.646000	0.37249	0.867000	0.35654	0.368000	0.22195	GAG		0.662	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		21	93	0	0	0	0.00047179	0	21	93				
BAI3	577	broad.mit.edu	37	6	70049277	70049277	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr6:70049277A>T	ENST00000370598.1	+	26	4161	c.3340A>T	c.(3340-3342)Atg>Ttg	p.M1114L	BAI3_ENST00000238918.8_Missense_Mutation_p.M320L|BAI3_ENST00000546190.1_Missense_Mutation_p.M78L	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1114					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTTGACGTGGATGTCTGCGGT	0.453																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(3340-3342)Atg>Ttg		brain-specific angiogenesis inhibitor 3							305.0	277.0	286.0					6																	70049277		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70049277A>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3340A>T	6.37:g.70049277A>T	ENSP00000359630:p.Met1114Leu					BAI3_ENST00000238918.8_Missense_Mutation_p.M320L|BAI3_ENST00000546190.1_Missense_Mutation_p.M78L	p.M1114L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			26	4161	+		all_lung(197;0.212)	1114					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3340A>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.298027	0.60086	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.40756	1.51;1.51;1.02	5.74	5.74	0.90152	GPCR, family 2-like (1);	0.039120	0.85682	D	0.000000	T	0.33059	0.0850	N	0.15975	0.35	0.54753	D	0.999983	P;P;B	0.40032	0.699;0.699;0.003	P;P;B	0.58130	0.833;0.768;0.015	T	0.30621	-0.9972	10	0.25751	T	0.34	.	16.0356	0.80625	1.0:0.0:0.0:0.0	.	320;1114;1114	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	L	1114;320;78	ENSP00000359630:M1114L;ENSP00000238918:M320L;ENSP00000441821:M78L	ENSP00000238918:M320L	M	+	1	0	BAI3	70105998	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.339000	0.96797	2.187000	0.69744	0.528000	0.53228	ATG		0.453	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			44	171	0	0	0	0.000680045	0	44	171				
PRKAA2	5563	broad.mit.edu	37	1	57161759	57161759	+	Missense_Mutation	SNP	C	C	T	rs141766544		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr1:57161759C>T	ENST00000371244.4	+	6	781	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	239	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.R239C(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	ATATCTCAATCGTTCTGTCGC	0.428																																						ENST00000371244.4																			1	Substitution - Missense(1)	p.R239C(1)	skin(1)	breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						c.(715-717)Cgt>Tgt		protein kinase, AMP-activated, alpha 2 catalytic subunit							248.0	248.0	248.0					1																	57161759		2203	4300	6503	SO:0001583	missense	5563				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	g.chr1:57161759C>T	BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.715C>T	1.37:g.57161759C>T	ENSP00000360290:p.Arg239Cys						p.R239C	NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN			6	781	+			239			Protein kinase.		Q9H1E8|Q9UD43	Missense_Mutation	SNP	ENST00000371244.4	37	c.715C>T	CCDS605.1	.	.	.	.	.	.	.	.	.	.	C	35	5.494034	0.96339	.	.	ENSG00000162409	ENST00000371244	T	0.66815	-0.23	5.98	5.98	0.97165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72407	0.3456	L	0.35288	1.05	0.80722	D	1	D	0.76494	0.999	P	0.57009	0.811	T	0.73760	-0.3881	10	0.72032	D	0.01	-20.4177	20.4434	0.99119	0.0:1.0:0.0:0.0	.	239	P54646	AAPK2_HUMAN	C	239	ENSP00000360290:R239C	ENSP00000360290:R239C	R	+	1	0	PRKAA2	56934347	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.487000	0.81328	2.838000	0.97847	0.655000	0.94253	CGT		0.428	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022753.2	NM_006252		10	337	0	0	0	0.000978159	0	10	337				
INTU	27152	broad.mit.edu	37	4	128626838	128626838	+	Silent	SNP	A	A	G			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr4:128626838A>G	ENST00000335251.6	+	11	1762	c.1659A>G	c.(1657-1659)aaA>aaG	p.K553K	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	553					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TAGCAGCAAAACAAAGAATTG	0.438																																						ENST00000335251.5																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(1657-1659)aaA>aaG		inturned planar cell polarity protein							180.0	165.0	170.0					4																	128626838		2203	4300	6503	SO:0001819	synonymous_variant	27152							g.chr4:128626838A>G	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1659A>G	4.37:g.128626838A>G						INTU_ENST00000512995.1_3'UTR	p.K553K	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			11	1762	+			553					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Silent	SNP	ENST00000335251.6	37	c.1659A>G	CCDS34061.1																																																																																				0.438	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		25	127	0	0	0	0.00278032	0	25	127				
HMCN1	83872	broad.mit.edu	37	1	185931777	185931777	+	Silent	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr1:185931777C>T	ENST00000271588.4	+	12	2185	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.I652I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	652	Ig-like C2-type 3.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATATGTTTATCGTGGGTTCAC	0.408																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(1954-1956)atC>atT		hemicentin 1							190.0	177.0	182.0					1																	185931777		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185931777C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1956C>T	1.37:g.185931777C>T						HMCN1_ENST00000367492.2_Silent_p.I652I|HMCN1_ENST00000485744.1_3'UTR	p.I652I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			12	2185	+			652			Ig-like C2-type 3.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.1956C>T	CCDS30956.1																																																																																				0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		21	95	0	0	0	0.00188189	0	21	95				
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTCTCTCCTGTGGGAGGGGGG	0.632																																						ENST00000414583.2																			0																																																			0							g.chr22:24659734T>C	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659734T>C								NR_003714.1						0	3259	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.632	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	15	0	0	0	0.000602214	0	3	15				
C9	735	broad.mit.edu	37	5	39311238	39311238	+	Splice_Site	SNP	C	C	T	rs544567518		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr5:39311238C>T	ENST00000263408.4	-	7	1207		c.e7+1			NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9						complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCTAGGCATACCTTTCCGCTT	0.368																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.e7+1		complement component 9							98.0	99.0	99.0					5																	39311238		2203	4299	6502	SO:0001630	splice_region_variant	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39311238C>T		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1111+1G>A	5.37:g.39311238C>T								NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		7	1207	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)							Splice_Site	SNP	ENST00000263408.4	37		CCDS3929.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298714	0.40694	.	.	ENSG00000113600	ENST00000263408	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7592	0.88460	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C9	39346995	1.000000	0.71417	0.978000	0.43139	0.111000	0.19643	6.243000	0.72384	2.721000	0.93114	0.655000	0.94253	.		0.368	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3		Intron	17	45	0	0	0	0.000422831	0	17	45				
DSTYK	25778	broad.mit.edu	37	1	205132935	205132935	+	Silent	SNP	G	G	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr1:205132935G>A	ENST00000367162.3	-	4	1503	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	DSTYK_ENST00000367160.4_Intron|DSTYK_ENST00000367161.3_Silent_p.F491F	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	491					cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GGGTTCCGACGAAGCTTTCCC	0.473																																						ENST00000367162.3																			0				breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						c.(1471-1473)ttC>ttT		dual serine/threonine and tyrosine protein kinase							135.0	115.0	122.0					1																	205132935		2203	4300	6503	SO:0001819	synonymous_variant	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205132935G>A	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.1473C>T	1.37:g.205132935G>A						DSTYK_ENST00000367161.3_Silent_p.F491F|DSTYK_ENST00000367160.4_Intron	p.F491F	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN			4	1503	-			491					B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Silent	SNP	ENST00000367162.3	37	c.1473C>T	CCDS1451.1																																																																																				0.473	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		12	52	0	0	0	0.000978159	0	12	52				
TAAR8	83551	broad.mit.edu	37	6	132874314	132874314	+	Silent	SNP	G	G	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr6:132874314G>A	ENST00000275200.1	+	1	483	c.483G>A	c.(481-483)acG>acA	p.T161T		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	161					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TGCCTCTCACGTACAGCGGTG	0.488																																						ENST00000275200.1																			0				endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(481-483)acG>acA		trace amine associated receptor 8							315.0	298.0	304.0					6																	132874314		2203	4300	6503	SO:0001819	synonymous_variant	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874314G>A	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.483G>A	6.37:g.132874314G>A							p.T161T	NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	483	+	Breast(56;0.112)		161					Q5VUQ0	Silent	SNP	ENST00000275200.1	37	c.483G>A	CCDS5154.1																																																																																				0.488	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		10	341	0	0	0	0.000673444	0	10	341				
PDZD4	57595	broad.mit.edu	37	X	153073955	153073955	+	Silent	SNP	G	G	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chrX:153073955G>A	ENST00000164640.4	-	2	347	c.156C>T	c.(154-156)cgC>cgT	p.R52R	PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron|PDZD4_ENST00000393758.2_5'UTR	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	52						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGGGGGCTGCGTCTCAGCA	0.642																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(154-156)cgC>cgT		PDZ domain containing 4							39.0	32.0	34.0					X																	153073955		2201	4298	6499	SO:0001819	synonymous_variant	57595					cell cortex		g.chrX:153073955G>A	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.156C>T	X.37:g.153073955G>A						PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000544474.1_Intron|PDZD4_ENST00000475140.1_5'UTR	p.R52R	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			2	347	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		52					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Silent	SNP	ENST00000164640.4	37	c.156C>T	CCDS14732.1																																																																																				0.642	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		5	7	0	0	0	0.00116845	0	5	7				
XPO6	23214	broad.mit.edu	37	16	28115941	28115941	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr16:28115941C>T	ENST00000304658.5	-	21	3372	c.2872G>A	c.(2872-2874)Gtg>Atg	p.V958M	XPO6_ENST00000565698.1_Missense_Mutation_p.V944M	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	958					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CTGGCCAGCACGGTGGACTTG	0.587																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(2872-2874)Gtg>Atg		exportin 6							69.0	73.0	72.0					16																	28115941		2059	4211	6270	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28115941C>T	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.2872G>A	16.37:g.28115941C>T	ENSP00000302790:p.Val958Met					XPO6_ENST00000565698.1_Missense_Mutation_p.V944M	p.V958M	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			21	3372	-			958					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.2872G>A	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674519	0.88445	.	.	ENSG00000169180	ENST00000304658	T	0.69306	-0.39	6.17	5.23	0.72850	Armadillo-type fold (1);	0.115570	0.64402	D	0.000018	T	0.77738	0.4175	M	0.66939	2.045	0.80722	D	1	D;D	0.67145	0.996;0.995	P;P	0.62435	0.902;0.765	T	0.80306	-0.1438	10	0.72032	D	0.01	-18.4053	13.4045	0.60903	0.0:0.9248:0.0:0.0752	.	958;958	B7ZM10;Q96QU8	.;XPO6_HUMAN	M	958	ENSP00000302790:V958M	ENSP00000302790:V958M	V	-	1	0	XPO6	28023442	0.999000	0.42202	0.985000	0.45067	0.986000	0.74619	4.088000	0.57678	1.634000	0.50500	0.655000	0.94253	GTG		0.587	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		7	60	0	0	0	0.000157383	0	7	60				
KCNT2	343450	broad.mit.edu	37	1	196254844	196254844	+	Silent	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr1:196254844C>T	ENST00000294725.9	-	23	3555	c.2640G>A	c.(2638-2640)ctG>ctA	p.L880L	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367433.5_Silent_p.L856L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.L806L|KCNT2_ENST00000609185.1_Silent_p.L806L			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	880					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGCAAAAGGCAGTCGAAACA	0.373																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2566-2568)ctG>ctA		potassium channel, subfamily T, member 2							85.0	83.0	83.0					1																	196254844		2203	4300	6503	SO:0001819	synonymous_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196254844C>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2640G>A	1.37:g.196254844C>T						KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Silent_p.L880L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.L806L	p.L856L			Q6UVM3	KCNT2_HUMAN			22	2669	-			880					Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	c.2568G>A	CCDS1384.1																																																																																				0.373	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		15	44	0	0	0	0.000308642	0	15	44				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	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.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	24	0	0	0	0.00024832	0	4	24				
KAT5	10524	broad.mit.edu	37	11	65484372	65484372	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr11:65484372A>G	ENST00000377046.3	+	11	1356	c.1084A>G	c.(1084-1086)Acg>Gcg	p.T362A	KAT5_ENST00000352980.4_Missense_Mutation_p.T310A|KAT5_ENST00000530446.1_Missense_Mutation_p.T343A|KAT5_ENST00000341318.4_Missense_Mutation_p.T395A|KAT5_ENST00000534650.1_Missense_Mutation_p.T151A	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	362	MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GAAAGAATCAACGGAAGACTA	0.592																																						ENST00000341318.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						c.(1183-1185)Acg>Gcg		K(lysine) acetyltransferase 5							153.0	143.0	146.0					11																	65484372		2201	4297	6498	SO:0001583	missense	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65484372A>G	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.1084A>G	11.37:g.65484372A>G	ENSP00000366245:p.Thr362Ala					KAT5_ENST00000377046.3_Missense_Mutation_p.T362A|KAT5_ENST00000352980.4_Missense_Mutation_p.T310A|KAT5_ENST00000530446.1_Missense_Mutation_p.T343A|KAT5_ENST00000534650.1_Missense_Mutation_p.T151A	p.T395A	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN			10	1417	+			362					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	ENST00000377046.3	37	c.1183A>G	CCDS31610.1	.	.	.	.	.	.	.	.	.	.	A	2.124	-0.400657	0.04865	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000534650	T;T;T;T	0.41065	1.02;1.04;1.01;1.04	5.58	5.58	0.84498	Acyl-CoA N-acyltransferase (2);MOZ/SAS-like protein (1);	0.000000	0.85682	D	0.000000	T	0.20007	0.0481	N	0.02973	-0.45	0.80722	D	1	B;B;B;B	0.31548	0.053;0.328;0.042;0.094	B;B;B;B	0.36186	0.145;0.219;0.051;0.206	T	0.18681	-1.0329	10	0.02654	T	1	-10.3484	13.7037	0.62624	1.0:0.0:0.0:0.0	.	343;395;310;362	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	A	362;310;395;343;151	ENSP00000366245:T362A;ENSP00000344955:T310A;ENSP00000340330:T395A;ENSP00000434765:T343A	ENSP00000340330:T395A	T	+	1	0	KAT5	65240948	0.952000	0.32445	0.371000	0.25978	0.112000	0.19704	4.209000	0.58493	2.131000	0.65755	0.533000	0.62120	ACG		0.592	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388		22	104	0	0	0	0.00278032	0	22	104				
BAZ2B	29994	broad.mit.edu	37	2	160193505	160193505	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr2:160193505C>T	ENST00000392783.2	-	33	6239	c.5744G>A	c.(5743-5745)tGc>tAc	p.C1915Y	BAZ2B_ENST00000355831.2_Missense_Mutation_p.C1881Y|BAZ2B_ENST00000343439.5_Missense_Mutation_p.C1815Y|BAZ2B_ENST00000392782.1_Missense_Mutation_p.C1879Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1915					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTGCTGAATGCACAGAGCTAC	0.363																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(5743-5745)tGc>tAc		bromodomain adjacent to zinc finger domain, 2B							94.0	88.0	90.0					2																	160193505		1838	4088	5926	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160193505C>T	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.5744G>A	2.37:g.160193505C>T	ENSP00000376534:p.Cys1915Tyr					BAZ2B_ENST00000343439.5_Missense_Mutation_p.C1815Y|BAZ2B_ENST00000355831.2_Missense_Mutation_p.C1881Y|BAZ2B_ENST00000392782.1_Missense_Mutation_p.C1879Y	p.C1915Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			33	6239	-			1915					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.5744G>A	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976440	0.34848	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000426648	T;T;T;T	0.60299	0.28;0.27;0.28;0.2	5.44	5.44	0.79542	.	0.000000	0.40728	U	0.001037	T	0.77705	0.4170	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.76615	-0.2894	10	0.42905	T	0.14	-5.0936	19.6436	0.95767	0.0:1.0:0.0:0.0	.	1879;1915	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	Y	1879;1915;1881;1815;168	ENSP00000376533:C1879Y;ENSP00000376534:C1915Y;ENSP00000348087:C1881Y;ENSP00000339670:C1815Y	ENSP00000339670:C1815Y	C	-	2	0	BAZ2B	159901751	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.712000	0.92718	0.650000	0.86243	TGC		0.363	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			9	83	0	0	0	0.000274275	0	9	83				
BEST3	144453	broad.mit.edu	37	12	70091546	70091546	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr12:70091546A>T	ENST00000330891.5	-	2	259	c.33T>A	c.(31-33)aaT>aaA	p.N11K	BEST3_ENST00000331471.4_Missense_Mutation_p.N11K|BEST3_ENST00000533674.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000553096.1_Intron|BEST3_ENST00000551160.1_Intron|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000266661.4_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	11					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AAAAAGTTGCATTTGCTACTT	0.353																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(31-33)aaT>aaA		bestrophin 3							113.0	110.0	111.0					12																	70091546		1830	4090	5920	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70091546A>T	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.33T>A	12.37:g.70091546A>T	ENSP00000332413:p.Asn11Lys					BEST3_ENST00000553096.1_Intron|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000551160.1_Intron|BEST3_ENST00000533674.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000331471.4_Missense_Mutation_p.N11K|BEST3_ENST00000266661.4_Intron	p.N11K	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		2	259	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		11					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.33T>A	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	A	16.20	3.054785	0.55325	.	.	ENSG00000127325	ENST00000331471;ENST00000330891;ENST00000548658	D;D;D	0.98362	-4.89;-4.89;-4.89	5.84	3.47	0.39725	.	0.000000	0.85682	D	0.000000	D	0.98077	0.9366	M	0.82323	2.585	0.80722	D	1	P;B	0.46395	0.877;0.081	P;B	0.51742	0.678;0.051	D	0.97098	0.9795	10	0.40728	T	0.16	-24.9836	10.5116	0.44866	0.8665:0.0:0.1335:0.0	.	11;11	Q8N1M1;Q8N1M1-1	BEST3_HUMAN;.	K	11	ENSP00000329064:N11K;ENSP00000332413:N11K;ENSP00000446575:N11K	ENSP00000332413:N11K	N	-	3	2	BEST3	68377813	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.106000	0.57804	1.038000	0.40049	0.528000	0.53228	AAT		0.353	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		28	110	0	0	0	0.001512	0	28	110				
ZNF442	79973	broad.mit.edu	37	19	12461101	12461101	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr19:12461101T>C	ENST00000242804.4	-	6	1880	c.1298A>G	c.(1297-1299)tAt>tGt	p.Y433C	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Missense_Mutation_p.Y364C	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	433					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(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TTTACATTCATAGGGTTTCTC	0.413																																						ENST00000242804.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1297-1299)tAt>tGt		zinc finger protein 442							94.0	97.0	96.0					19																	12461101		2203	4300	6503	SO:0001583	missense	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461101T>C	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1298A>G	19.37:g.12461101T>C	ENSP00000242804:p.Tyr433Cys					ZNF442_ENST00000438182.1_Missense_Mutation_p.Y364C	p.Y433C	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN			6	1880	-			433					B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	c.1298A>G	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.839621	0.51057	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.25414	1.8;1.8	0.832	0.832	0.18867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45074	0.1324	M	0.80332	2.49	0.30967	N	0.722984	D	0.89917	1.0	D	0.97110	1.0	T	0.47249	-0.9132	9	0.87932	D	0	.	2.9212	0.05770	0.4068:0.0:0.0:0.5932	.	433	Q9H7R0	ZN442_HUMAN	C	433;364	ENSP00000242804:Y433C;ENSP00000388634:Y364C	ENSP00000242804:Y433C	Y	-	2	0	ZNF442	12322101	0.001000	0.12720	0.953000	0.39169	0.793000	0.44817	0.188000	0.17018	0.617000	0.30160	0.260000	0.18958	TAT		0.413	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		4	87	0	0	0	0.00116845	0	4	87				
UTRN	7402	broad.mit.edu	37	6	145093097	145093097	+	Silent	SNP	A	A	G			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr6:145093097A>G	ENST00000367545.3	+	58	8550	c.8550A>G	c.(8548-8550)caA>caG	p.Q2850Q	UTRN_ENST00000367526.4_Silent_p.Q405Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2850	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACTCTTTCAATCCCTTGGTA	0.269																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(8548-8550)caA>caG		utrophin							64.0	69.0	68.0					6																	145093097		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145093097A>G	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8550A>G	6.37:g.145093097A>G						UTRN_ENST00000367526.4_Silent_p.Q405Q	p.Q2850Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	58	8550	+		Ovarian(120;0.218)	2850			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.8550A>G	CCDS34547.1																																																																																				0.269	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			4	85	0	0	0	0.00116845	0	4	85				
METTL7A	25840	broad.mit.edu	37	12	51318927	51318927	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr12:51318927T>C	ENST00000548553.1	+	2	1087	c.106T>C	c.(106-108)Ttc>Ctc	p.F36L	METTL7A_ENST00000332160.4_Missense_Mutation_p.F36L			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	36						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CAAAAAATGGTTCCCCTACTT	0.488																																						ENST00000548553.1																			0				endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						c.(106-108)Ttc>Ctc		methyltransferase like 7A							126.0	114.0	118.0					12																	51318927		2203	4300	6503	SO:0001583	missense	25840					endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	g.chr12:51318927T>C		CCDS8804.1	12q13.12	2013-06-20			ENSG00000185432	ENSG00000185432			24550	protein-coding gene	gene with protein product						12975309	Standard	XM_006719332		Approved	DKFZP586A0522	uc001rxb.3	Q9H8H3	OTTHUMG00000169484	ENST00000548553.1:c.106T>C	12.37:g.51318927T>C	ENSP00000448785:p.Phe36Leu					METTL7A_ENST00000332160.4_Missense_Mutation_p.F36L	p.F36L			Q9H8H3	MET7A_HUMAN			2	1087	+			36					Q9H7R3|Q9UHZ7|Q9Y422	Missense_Mutation	SNP	ENST00000548553.1	37	c.106T>C	CCDS8804.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.708004	0.30322	.	.	ENSG00000185432	ENST00000548553;ENST00000550502;ENST00000332160;ENST00000433599	T;T;T	0.23147	2.25;1.92;2.25	5.0	3.84	0.44239	.	0.268823	0.42548	N	0.000687	T	0.27419	0.0673	M	0.69523	2.12	0.40179	D	0.977262	B;B	0.12013	0.001;0.005	B;B	0.20577	0.003;0.03	T	0.09509	-1.0671	10	0.49607	T	0.09	-0.4382	7.859	0.29499	0.0:0.1604:0.0:0.8396	.	36;36	B4DDW1;Q9H8H3	.;MET7A_HUMAN	L	36	ENSP00000448785:F36L;ENSP00000450239:F36L;ENSP00000331787:F36L	ENSP00000331787:F36L	F	+	1	0	METTL7A	49605194	0.918000	0.31147	0.595000	0.28798	0.152000	0.21847	2.092000	0.41700	1.036000	0.39998	0.533000	0.62120	TTC		0.488	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404294.2	NM_014033		17	68	0	0	0	0.000566183	0	17	68				
UGT2B17	7367	broad.mit.edu	37	4	69416515	69416515	+	Missense_Mutation	SNP	G	G	C	rs377204498		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr4:69416515G>C	ENST00000317746.2	-	5	1235	c.1193C>G	c.(1192-1194)gCg>gGg	p.A398G		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	398					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30					Losartan(DB00678)	ATGTTGATCCGCAAACAAGGG	0.463																																					Melanoma(18;649 833 28984 37818 38500)	ENST00000317746.2																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						c.(1192-1194)gCg>gGg		UDP glucuronosyltransferase 2 family, polypeptide B17							122.0	96.0	105.0					4																	69416515		2102	3970	6072	SO:0001583	missense	7367				steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69416515G>C	U59209	CCDS3523.1	4q13	2008-02-05	2005-07-20		ENSG00000197888	ENSG00000197888		"""UDP glucuronosyltransferases"""	12547	protein-coding gene	gene with protein product		601903	"""UDP glycosyltransferase 2 family, polypeptide B17"""			8798464	Standard	NM_001077		Approved		uc021xov.1	O75795	OTTHUMG00000129305	ENST00000317746.2:c.1193C>G	4.37:g.69416515G>C	ENSP00000320401:p.Ala398Gly						p.A398G	NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN			5	1235	-			398						Missense_Mutation	SNP	ENST00000317746.2	37	c.1193C>G	CCDS3523.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.286964	0.00020	.	.	ENSG00000197888	ENST00000317746	T	0.52754	0.65	2.7	-0.991	0.10235	.	0.163682	0.38436	U	0.001681	T	0.21307	0.0513	N	0.11698	0.16	0.09310	N	1	.	.	.	.	.	.	T	0.32745	-0.9895	8	0.02654	T	1	.	11.3198	0.49415	0.0:0.5198:0.4802:0.0	.	.	.	.	G	398	ENSP00000320401:A398G	ENSP00000320401:A398G	A	-	2	0	UGT2B17	69099110	0.000000	0.05858	0.108000	0.21378	0.078000	0.17371	-1.423000	0.02450	-0.100000	0.12241	0.393000	0.25936	GCG		0.463	UGT2B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251436.1	NM_001077		56	62	0	0	0	0.000781405	0	56	62				
GPR112	139378	broad.mit.edu	37	X	135405107	135405107	+	Missense_Mutation	SNP	G	G	A	rs142877839		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chrX:135405107G>A	ENST00000394143.1	+	5	532	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	GPR112_ENST00000370652.1_Missense_Mutation_p.A81T|GPR112_ENST00000287534.4_Missense_Mutation_p.A18T|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	81					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TACTAATAACGCCCTCCTGGG	0.448													G|||	1	0.000264901	0.0	0.0	3775	,	,		14048	0.001		0.0	False		,,,				2504	0.0					ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(241-243)Gcc>Acc		G protein-coupled receptor 112							126.0	117.0	121.0					X																	135405107		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135405107G>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.241G>A	X.37:g.135405107G>A	ENSP00000377699:p.Ala81Thr					GPR112_ENST00000287534.4_Missense_Mutation_p.A18T|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.A81T|GPR112_ENST00000394141.1_Intron	p.A81T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			5	532	+	Acute lymphoblastic leukemia(192;0.000127)		81					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.241G>A	CCDS35409.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.010	-1.794628	0.00617	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000287534	T;T;T	0.26660	1.72;1.72;1.88	5.62	-3.42	0.04825	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.11793	0.0287	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40794	-0.9544	9	0.02654	T	1	.	6.6765	0.23098	0.5944:0.1183:0.2873:0.0	.	81	Q8IZF6	GP112_HUMAN	T	81;81;18	ENSP00000377699:A81T;ENSP00000359686:A81T;ENSP00000287534:A18T	ENSP00000287534:A18T	A	+	1	0	GPR112	135232773	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.046000	0.14035	-1.043000	0.03258	-1.496000	0.00964	GCC		0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			53	36	0	0	0	0.000781405	0	53	36				
PAK2	5062	broad.mit.edu	37	3	196509570	196509570	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr3:196509570T>A	ENST00000327134.3	+	2	375	c.53T>A	c.(52-54)aTg>aAg	p.M18K	RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	18					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CCTGTGCGAATGAGCAGCACC	0.443																																						ENST00000327134.3																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12						c.(52-54)aTg>aAg		p21 protein (Cdc42/Rac)-activated kinase 2							120.0	125.0	124.0					3																	196509570		2203	4300	6503	SO:0001583	missense	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196509570T>A	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.53T>A	3.37:g.196509570T>A	ENSP00000314067:p.Met18Lys						p.M18K	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	2	375	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		18					Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	c.53T>A	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	T	15.38	2.817561	0.50633	.	.	ENSG00000180370	ENST00000327134	T	0.68025	-0.3	5.21	5.21	0.72293	.	0.081660	0.85682	D	0.000000	T	0.59128	0.2171	L	0.44542	1.39	0.80722	D	1	B	0.22683	0.073	B	0.20184	0.028	T	0.55276	-0.8166	10	0.28530	T	0.3	.	15.084	0.72135	0.0:0.0:0.0:1.0	.	18	Q13177	PAK2_HUMAN	K	18	ENSP00000314067:M18K	ENSP00000314067:M18K	M	+	2	0	PAK2	197993967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.527000	0.60573	1.988000	0.58038	0.533000	0.62120	ATG		0.443	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		10	216	0	0	0	0.000978159	0	10	216				
ASTN1	460	broad.mit.edu	37	1	176913135	176913135	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr1:176913135C>T	ENST00000367654.3	-	14	2504	c.2293G>A	c.(2293-2295)Ggt>Agt	p.G765S	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.G757S|ASTN1_ENST00000367657.3_Missense_Mutation_p.G757S|ASTN1_ENST00000361833.2_Missense_Mutation_p.G757S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	765					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGTCTAAACCACGAGCAAAG	0.483																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(2293-2295)Ggt>Agt		astrotactin 1							120.0	113.0	115.0					1																	176913135		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176913135C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2293G>A	1.37:g.176913135C>T	ENSP00000356626:p.Gly765Ser					ASTN1_ENST00000367657.3_Missense_Mutation_p.G757S|ASTN1_ENST00000361833.2_Missense_Mutation_p.G757S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.G757S	p.G765S			O14525	ASTN1_HUMAN			14	2306	-			765					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2293G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.136306	0.94517	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15718	2.4;2.82;2.82;2.41	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.27866	0.0686	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.996	T	0.06162	-1.0842	10	0.19590	T	0.45	-20.1378	18.966	0.92697	0.0:1.0:0.0:0.0	.	765;757;757	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	S	757;757;765;757;757	ENSP00000356629:G757S;ENSP00000354536:G757S;ENSP00000356626:G765S;ENSP00000395041:G757S	ENSP00000354536:G757S	G	-	1	0	ASTN1	175179758	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.837000	0.75354	2.576000	0.86940	0.655000	0.94253	GGT		0.483	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		17	59	0	0	0	0.00152264	0	17	59				
ZNF518B	85460	broad.mit.edu	37	4	10445720	10445720	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr4:10445720A>G	ENST00000326756.3	-	3	2671	c.2233T>C	c.(2233-2235)Tat>Cat	p.Y745H		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	745					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AAGTGTGGATATATTTGTTGA	0.468																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2233-2235)Tat>Cat		zinc finger protein 518B							135.0	135.0	135.0					4																	10445720		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445720A>G	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2233T>C	4.37:g.10445720A>G	ENSP00000317614:p.Tyr745His						p.Y745H	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	2671	-			745					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2233T>C	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329747	0.41297	.	.	ENSG00000178163	ENST00000326756	T	0.01538	4.79	6.02	0.561	0.17285	.	0.968666	0.08477	N	0.940030	T	0.01421	0.0046	L	0.29908	0.895	0.09310	N	1	P	0.46395	0.877	B	0.41723	0.365	T	0.41413	-0.9510	10	0.17832	T	0.49	-5.9707	1.3504	0.02171	0.5063:0.1452:0.208:0.1406	.	745	Q9C0D4	Z518B_HUMAN	H	745	ENSP00000317614:Y745H	ENSP00000317614:Y745H	Y	-	1	0	ZNF518B	10054818	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.372000	0.20467	0.496000	0.27904	-0.256000	0.11100	TAT		0.468	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		27	112	0	0	0	0.000720815	0	27	112				
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	lincRNA	SNP	G	G	A	rs28392876	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCTTCCGCCGGGCCAGCAGC	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946438G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946438G>A														0	1081	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	19	0	0	0	0.00024832	0	4	19				
POM121L9P	29774	broad.mit.edu	37	22	24659741	24659741	+	RNA	SNP	G	G	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr22:24659741G>A	ENST00000414583.2	+	0	3266					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CTGTGGGAGGGGGGAATGTTC	0.622																																						ENST00000414583.2																			0																																																			0							g.chr22:24659741G>A	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659741G>A								NR_003714.1						0	3266	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.622	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		3	12	0	0	0	6.4e-05	0	3	12				
KCNAB1	7881	broad.mit.edu	37	3	156234121	156234121	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr3:156234121G>A	ENST00000490337.1	+	11	992	c.928G>A	c.(928-930)Ggg>Agg	p.G310R	KCNAB1_ENST00000389636.5_Missense_Mutation_p.G281R|KCNAB1_ENST00000302490.8_Missense_Mutation_p.G292R|KCNAB1_ENST00000471742.1_Missense_Mutation_p.G299R|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Missense_Mutation_p.G263R	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	310					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATACGGAAACGGGGTGCCTGA	0.448																																						ENST00000302490.8																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(874-876)Ggg>Agg		potassium voltage-gated channel, shaker-related subfamily, beta member 1							96.0	97.0	96.0					3																	156234121		2203	4300	6503	SO:0001583	missense	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156234121G>A	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.928G>A	3.37:g.156234121G>A	ENSP00000419952:p.Gly310Arg					KCNAB1_ENST00000471742.1_Missense_Mutation_p.G299R|KCNAB1_ENST00000389634.5_Missense_Mutation_p.G263R|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389636.5_Missense_Mutation_p.G281R|KCNAB1_ENST00000490337.1_Missense_Mutation_p.G310R	p.G292R	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		11	1745	+			310					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	ENST00000490337.1	37	c.874G>A	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409753	0.62399	.	.	ENSG00000169282	ENST00000490337;ENST00000389636;ENST00000471742;ENST00000302490;ENST00000389634	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	4.77	4.77	0.60923	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.44286	0.1286	L	0.45228	1.405	0.80722	D	1	B;B;B;B;B	0.18863	0.024;0.019;0.031;0.025;0.031	B;B;B;B;B	0.24269	0.052;0.03;0.011;0.007;0.011	T	0.37596	-0.9699	10	0.46703	T	0.11	-10.7145	16.9559	0.86259	0.0:0.0:1.0:0.0	.	281;263;292;299;310	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	R	310;281;299;292;263	ENSP00000419952:G310R;ENSP00000374287:G281R;ENSP00000418956:G299R;ENSP00000305858:G292R;ENSP00000374285:G263R	ENSP00000305858:G292R	G	+	1	0	KCNAB1	157716815	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	9.392000	0.97252	2.364000	0.80123	0.561000	0.74099	GGG		0.448	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		5	96	0	0	0	0.00116845	0	5	96				
DUS3L	56931	broad.mit.edu	37	19	5790299	5790299	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr19:5790299C>A	ENST00000309061.7	-	2	242	c.146G>T	c.(145-147)gGg>gTg	p.G49V	DUS3L_ENST00000320699.8_Missense_Mutation_p.G49V|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	49							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CTTCTCCTGCCCTTTGGCTTC	0.547																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(145-147)gGg>gTg		dihydrouridine synthase 3-like (S. cerevisiae)							77.0	72.0	74.0					19																	5790299		2203	4300	6503	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5790299C>A		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.146G>T	19.37:g.5790299C>A	ENSP00000311977:p.Gly49Val					DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Missense_Mutation_p.G49V	p.G49V	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			2	242	-			49					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.146G>T	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	0.701	-0.790918	0.02884	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.24350	2.27;1.86	4.74	1.38	0.22167	.	0.299395	0.34959	N	0.003555	T	0.19208	0.0461	L	0.48642	1.525	0.20403	N	0.999909	B;P	0.39717	0.161;0.684	B;B	0.35727	0.107;0.209	T	0.09509	-1.0671	10	0.54805	T	0.06	-10.0473	8.2212	0.31543	0.0:0.7206:0.0:0.2794	.	49;49	Q96G46-3;Q96G46	.;DUS3L_HUMAN	V	49	ENSP00000311977:G49V;ENSP00000315558:G49V	ENSP00000311977:G49V	G	-	2	0	DUS3L	5741299	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.718000	0.25866	0.158000	0.19367	-0.748000	0.03510	GGG		0.547	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		11	64	1	0	4.84862e-15	0.000978159	7.29779e-14	11	64				
GPS2	2874	broad.mit.edu	37	17	7217275	7217275	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr17:7217275G>C	ENST00000380728.2	-	6	730	c.430C>G	c.(430-432)Ctc>Gtc	p.L144V	GPS2_ENST00000391950.3_Missense_Mutation_p.L144V|GPS2_ENST00000389167.5_Missense_Mutation_p.L144V|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	144					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GCTGCCATGAGGGTGCCTGGG	0.547																																						ENST00000380728.2																			0				breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24						c.(430-432)Ctc>Gtc		G protein pathway suppressor 2							133.0	126.0	128.0					17																	7217275		2203	4300	6503	SO:0001583	missense	2874				cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	g.chr17:7217275G>C	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.430C>G	17.37:g.7217275G>C	ENSP00000370104:p.Leu144Val					GPS2_ENST00000389167.5_Missense_Mutation_p.L144V|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Missense_Mutation_p.L144V	p.L144V			Q13227	GPS2_HUMAN			6	730	-		Prostate(122;0.157)	144					B4DXA1|Q6FHM8	Missense_Mutation	SNP	ENST00000380728.2	37	c.430C>G	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237038	0.79800	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.52057	0.68;0.68	4.88	4.88	0.63580	.	0.000000	0.64402	U	0.000009	T	0.49779	0.1577	L	0.32530	0.975	0.58432	D	0.999995	D	0.64830	0.994	P	0.54706	0.759	T	0.40701	-0.9549	10	0.34782	T	0.22	.	15.0613	0.71955	0.0:0.0:1.0:0.0	.	144	Q13227	GPS2_HUMAN	V	144	ENSP00000370104:L144V;ENSP00000379841:L144V	ENSP00000319371:L144V	L	-	1	0	GPS2	7157999	1.000000	0.71417	0.994000	0.49952	0.928000	0.56348	6.675000	0.74493	2.548000	0.85928	0.655000	0.94253	CTC		0.547	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489		35	90	0	0	0	0.00111076	0	35	90				
PREX2	80243	broad.mit.edu	37	8	68965472	68965472	+	Missense_Mutation	SNP	C	C	T	rs200682883		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr8:68965472C>T	ENST00000288368.4	+	9	1361	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	362					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAAAGAGAACGGCGGAAAGG	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		17067	0.0		0.001	False		,,,				2504	0.0					ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(1084-1086)Cgg>Tgg		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							112.0	108.0	109.0					8																	68965472		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68965472C>T	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1084C>T	8.37:g.68965472C>T	ENSP00000288368:p.Arg362Trp					PREX2_ENST00000529398.1_3'UTR	p.R362W	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			9	1361	+			362					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.1084C>T	CCDS6201.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	20.3	3.959465	0.74016	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	D	0.88586	-2.4	5.74	3.76	0.43208	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	D	0.92974	0.7764	M	0.66439	2.03	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.76575	0.988;0.929;0.968	D	0.93576	0.6908	10	0.87932	D	0	.	13.3616	0.60659	0.3985:0.6015:0.0:0.0	.	362;362;362	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	W	362	ENSP00000288368:R362W	ENSP00000288368:R362W	R	+	1	2	PREX2	69128026	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	1.554000	0.36266	1.395000	0.46643	0.655000	0.94253	CGG		0.383	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		7	59	0	0	0	0.000157383	0	7	59				
ANK2	287	broad.mit.edu	37	4	114275162	114275162	+	Silent	SNP	C	C	T	rs374140329		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr4:114275162C>T	ENST00000357077.4	+	38	5441	c.5388C>T	c.(5386-5388)gaC>gaT	p.D1796D	ANK2_ENST00000264366.6_Silent_p.D1763D|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1796					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCAAGGAGGACGTGCCAAAAA	0.517																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(5386-5388)gaC>gaT		ankyrin 2, neuronal		C	,,	0,4406		0,0,2203	109.0	120.0	117.0		,5388,	-5.6	0.8	4		117	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,intron	ANK2	NM_001127493.1,NM_001148.4,NM_020977.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	,1796/3958,	114275162	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114275162C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5388C>T	4.37:g.114275162C>T						ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.D1763D	p.D1796D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5441	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1763			Repeat-rich region.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.5388C>T	CCDS3702.1																																																																																				0.517	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		22	130	0	0	0	0.00188189	0	22	130				
HSPBAP1	79663	broad.mit.edu	37	3	122459555	122459555	+	Silent	SNP	G	G	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr3:122459555G>A	ENST00000306103.2	-	8	1247	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	368						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TACCTGTTTGGCCCACCTCCA	0.502																																						ENST00000306103.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1102-1104)ggC>ggT		HSPB (heat shock 27kDa) associated protein 1							210.0	201.0	204.0					3																	122459555		2203	4300	6503	SO:0001819	synonymous_variant	79663					cytoplasm		g.chr3:122459555G>A	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.1104C>T	3.37:g.122459555G>A						HSPBAP1_ENST00000383659.1_3'UTR	p.G368G	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	8	1247	-			368					Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Silent	SNP	ENST00000306103.2	37	c.1104C>T	CCDS3017.1																																																																																				0.502	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		29	296	0	0	0	0.00127121	0	29	296				
ERO1LB	56605	broad.mit.edu	37	1	236445067	236445067	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:236445067delC	ENST00000354619.5	-	1	218	c.17delG	c.(16-18)cgcfs	p.R7fs	ERO1LB_ENST00000327333.8_Frame_Shift_Del_p.R7fs	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	7					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	GCCTGCCCGGCGGACCCCTTG	0.736																																						ENST00000354619.5																			0				NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23						c.(16-18)ccfs		ERO1-like beta (S. cerevisiae)							6.0	7.0	7.0					1																	236445067		2077	4074	6151	SO:0001589	frameshift_variant	56605				electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	g.chr1:236445067delC	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.17delG	1.37:g.236445067delC	ENSP00000346635:p.Arg7fs					ERO1LB_ENST00000327333.8_Frame_Shift_Del_p.R7fs	p.R7fs	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		1	218	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	7					B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Frame_Shift_Del	DEL	ENST00000354619.5	37	c.17delG	CCDS31064.1																																																																																				0.736	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		2	4						2	4	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086237	20086237	+	RNA	DEL	T	T	-	rs569592353|rs373441912	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:20086237delT	ENST00000548261.1	+	0	51																											GGTGTGTGTGTGGGGGGGTAT	0.388													|||unknown(STR2?)	915	0.182708	0.2443	0.1686	5008	,	,		35626	0.1429		0.1511	False		,,,				2504	0.183					ENST00000548261.1																			0																																																			0							g.chr14:20086237delT																													14.37:g.20086237delT														0	51	+									RNA	DEL	ENST00000548261.1	37																																																																																						0.388	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			5	7						5	7	---	---	---	---
CCDC144B	284047	broad.mit.edu	37	17	18498497	18498498	+	RNA	INS	-	-	A	rs397961350|rs59933375|rs80104188	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:18498497_18498498insA	ENST00000442583.1	-	0	749							Q3MJ40	C144B_HUMAN	coiled-coil domain containing 144B (pseudogene)											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTGCAGGCCTGAAAAAAAAAAA	0.243														2618	0.522764	0.528	0.4683	5008	,	,		15585	0.6756		0.4294	False		,,,				2504	0.4928					ENST00000442583.1																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36																																														0							g.chr17:18498497_18498498insA	AK093811		17p11.2	2012-11-19	2011-09-02		ENSG00000154874	ENSG00000154874			26704	pseudogene	pseudogene			"""coiled-coil domain containing 144B"""			11997339	Standard	NR_036647		Approved	FLJ36492	uc002guc.2	Q3MJ40	OTTHUMG00000059531		17.37:g.18498508_18498508dupA														0	749	-								Q6P5Q3|Q8N200	RNA	INS	ENST00000442583.1	37																																																																																						0.243	CCDC144B-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000132102.1	NM_182568		4	2						4	2	---	---	---	---
CD93	22918	broad.mit.edu	37	20	23066789	23066791	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr20:23066789_23066791delAGC	ENST00000246006.4	-	1	186_188	c.39_41delGCT	c.(37-42)ctgctc>ctc	p.13_14LL>L		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	13					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTGGGTcaggagcagcagcagca	0.709																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(37-42)ctc>ct		CD93 molecule				4,187,3873		0,0,4,17,153,1858						-10.7	0.0			6	5,391,7426		0,0,5,22,347,3537	no	codingComplex	CD93	NM_012072.3		0,0,9,39,500,5395	A1A1,A1A2,A1R,A2A2,A2R,RR		5.0626,4.6998,4.9386				9,578,11299				SO:0001651	inframe_deletion	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23066789_23066791delAGC	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.39_41delGCT	20.37:g.23066798_23066800delAGC	ENSP00000246006:p.Leu15del						p.LL13del	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	186_188	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		13					O00274	In_Frame_Del	DEL	ENST00000246006.4	37	c.39_41delGCT	CCDS13149.1																																																																																				0.709	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		3	5						3	5	---	---	---	---
FAM83D	81610	broad.mit.edu	37	20	37555322	37555323	+	In_Frame_Ins	INS	-	-	GCG	rs570408132|rs534813259	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr20:37555322_37555323insGCG	ENST00000217429.4	+	1	368_369	c.327_328insGCG	c.(328-330)gcg>GCGgcg	p.110_110A>AA		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	80					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GAGAGGAGGGCgcggcggcggc	0.718																																						ENST00000217429.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28						c.(325-330)ggcggc>ggGCGcggc		family with sequence similarity 83, member D																																				SO:0001652	inframe_insertion	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37555322_37555323insGCG	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.343_345dupGCG	20.37:g.37555329_37555331dupGCG	ENSP00000217429:p.Ala116dup						p.109_110GG>GRG	NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN			1	368_369	+		Myeloproliferative disorder(115;0.00878)	79					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	In_Frame_Ins	INS	ENST00000217429.4	37	c.327_328insGCG	CCDS42872.1																																																																																				0.718	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			2	4						2	4	---	---	---	---
ERO1LB	56605	broad.mit.edu	37	1	236445067	236445067	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr1:236445067delC	ENST00000354619.5	-	1	218	c.17delG	c.(16-18)cgcfs	p.R7fs	ERO1LB_ENST00000327333.8_Frame_Shift_Del_p.R7fs	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	7					4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|glucose homeostasis (GO:0042593)|insulin processing (GO:0030070)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|unfolded protein binding (GO:0051082)			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Flavin adenine dinucleotide(DB03147)	GCCTGCCCGGCGGACCCCTTG	0.736																																						ENST00000354619.5																			0				NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23						c.(16-18)ccfs		ERO1-like beta (S. cerevisiae)							6.0	7.0	7.0					1																	236445067		2077	4074	6151	SO:0001589	frameshift_variant	56605				electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding	g.chr1:236445067delC	AF252538	CCDS31064.1	1q42.2-q43	2008-02-05			ENSG00000086619	ENSG00000086619			14355	protein-coding gene	gene with protein product		615437				10818100	Standard	NM_019891		Approved	ERO1-L(beta)	uc001hxt.3	Q86YB8	OTTHUMG00000039955	ENST00000354619.5:c.17delG	1.37:g.236445067delC	ENSP00000346635:p.Arg7fs					ERO1LB_ENST00000327333.8_Frame_Shift_Del_p.R7fs	p.R7fs	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		1	218	-	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	7					B4DF57|Q5T1H4|Q8IZ11|Q9NR62	Frame_Shift_Del	DEL	ENST00000354619.5	37	c.17delG	CCDS31064.1																																																																																				0.736	ERO1LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096371.1	NM_019891		2	4						2	4	---	---	---	---
IL12A-AS1	101928376	broad.mit.edu	37	3	159820109	159820109	+	RNA	DEL	A	A	-			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr3:159820109delA	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		TTGACACAGCAAAAAAAAATG	0.443																																						ENST00000497452.1																			0																																																			0							g.chr3:159820109delA	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159820109delA														0	517	-									RNA	DEL	ENST00000497452.1	37																																																																																						0.443	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			8	146						8	146	---	---	---	---
CCDC96	257236	broad.mit.edu	37	4	7044507	7044509	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr4:7044507_7044509delCTC	ENST00000310085.4	-	1	219_221	c.157_159delGAG	c.(157-159)gagdel	p.E53del	RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000310074.7_5'Flank|TADA2B_ENST00000512388.1_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	53	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						AAGCCGCTTGCTCCTCCTCCTCC	0.729																																						ENST00000310085.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						c.(157-159)del		coiled-coil domain containing 96				5,52,3685		0,0,5,5,42,1819						1.2	0.0			5	3,138,7455		0,0,3,11,116,3668	no	codingComplex	CCDC96	NM_153376.2		0,0,8,16,158,5487	A1A1,A1A2,A1R,A2A2,A2R,RR		1.8562,1.5232,1.7463				8,190,11140				SO:0001651	inframe_deletion	257236							g.chr4:7044507_7044509delCTC	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.157_159delGAG	4.37:g.7044516_7044518delCTC	ENSP00000309285:p.Glu53del					RP11-367J11.2_ENST00000500031.1_RNA	p.E53del	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN			1	219_221	-			53			Glu-rich.		Q8N2I7	In_Frame_Del	DEL	ENST00000310085.4	37	c.157_159delGAG	CCDS3395.1																																																																																				0.729	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376		2	4						2	4	---	---	---	---
CD93	22918	broad.mit.edu	37	20	23066789	23066791	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0f0145fa-ee69-4761-9991-22d1f7b7684e	g.chr20:23066789_23066791delAGC	ENST00000246006.4	-	1	186_188	c.39_41delGCT	c.(37-42)ctgctc>ctc	p.13_14LL>L		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	13					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTGGGTcaggagcagcagcagca	0.709																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(37-42)ctc>ct		CD93 molecule				4,187,3873		0,0,4,17,153,1858						-10.7	0.0			6	5,391,7426		0,0,5,22,347,3537	no	codingComplex	CD93	NM_012072.3		0,0,9,39,500,5395	A1A1,A1A2,A1R,A2A2,A2R,RR		5.0626,4.6998,4.9386				9,578,11299				SO:0001651	inframe_deletion	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23066789_23066791delAGC	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.39_41delGCT	20.37:g.23066798_23066800delAGC	ENSP00000246006:p.Leu15del						p.LL13del	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	186_188	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		13					O00274	In_Frame_Del	DEL	ENST00000246006.4	37	c.39_41delGCT	CCDS13149.1																																																																																				0.709	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		3	5						3	5	---	---	---	---
