#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
GRIK1	2897	broad.mit.edu	37	21	31023467	31023467	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr21:31023467C>T	ENST00000399907.1	-	6	1336	c.925G>A	c.(925-927)Gag>Aag	p.E309K	GRIK1_ENST00000399913.1_Missense_Mutation_p.E309K|GRIK1_ENST00000389125.3_Missense_Mutation_p.E309K|GRIK1_ENST00000399914.1_Missense_Mutation_p.E309K|GRIK1_ENST00000389124.2_Missense_Mutation_p.E309K|GRIK1_ENST00000309434.7_Missense_Mutation_p.E309K|GRIK1_ENST00000535441.1_Missense_Mutation_p.E309K|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000327783.4_Missense_Mutation_p.E309K|GRIK1_ENST00000399909.1_Missense_Mutation_p.E309K	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	309					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.E309K(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	AGGCCAGTCTCGGGCCTGGGT	0.463																																						uc011acs.2																			2	Substitution - Missense(2)	p.E309K(3)|p.E309E(1)	urinary_tract(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(925-927)Gag>Aag		Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						64.0	61.0	62.0					21																	31023467		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31023467C>T		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.925G>A	21.37:g.31023467C>T	ENSP00000382791:p.Glu309Lys		Somatic				GRIK1_uc002ynn.3_Missense_Mutation_p.E309K|GRIK1_uc011act.2_Missense_Mutation_p.E253K|GRIK1_uc002yno.1_Missense_Mutation_p.E309K|GRIK1_uc010glq.1_Missense_Mutation_p.E167K|GRIK1_uc002ynr.3_Missense_Mutation_p.E309K	p.E309K	NM_000830	NP_000821	WXS	Illumina GAIIx	Phase_I	P39086	GRIK1_HUMAN			5	1389	-			309					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.925G>A	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.913377	0.92178	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91;1.91	4.91	4.91	0.64330	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.26159	0.0638	L	0.33753	1.03	0.80722	D	1	P;P;B;P;P;P	0.46859	0.54;0.7;0.004;0.7;0.885;0.524	B;B;B;B;P;B	0.46320	0.188;0.244;0.003;0.244;0.512;0.04	T	0.01356	-1.1376	10	0.17832	T	0.49	.	18.233	0.89939	0.0:1.0:0.0:0.0	.	309;309;309;309;309;309	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	K	309;309;309;309;309;253;309;309;309;309	ENSP00000327687:E309K;ENSP00000373777:E309K;ENSP00000382797:E309K;ENSP00000382798:E309K;ENSP00000446326:E309K;ENSP00000373776:E309K;ENSP00000382791:E309K;ENSP00000382793:E309K;ENSP00000311646:E309K	ENSP00000311646:E309K	E	-	1	0	GRIK1	29945338	1.000000	0.71417	0.977000	0.42913	0.969000	0.65631	5.563000	0.67352	2.693000	0.91896	0.655000	0.94253	GAG		0.463	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			11	62	0	0	0	1	0	11	62				
CTTN	2017	broad.mit.edu	37	11	70282508	70282508	+	3'UTR	SNP	C	C	T			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr11:70282508C>T	ENST00000301843.8	+	0	3099				CTTN_ENST00000346329.3_3'UTR|CTTN_ENST00000376561.3_Silent_p.C633C	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin						negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TCCCGGAGTGCCCGTGAAGCG	0.532																																						uc001opu.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.(1897-1899)tgC>tgT		Homo sapiens cortactin (CTTN), transcript variant 3, mRNA.							234.0	226.0	228.0					11																	70282508		873	1985	2858	SO:0001624	3_prime_UTR_variant	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70282508C>T	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.*1240C>T	11.37:g.70282508C>T			Somatic				CTTN_uc001opv.4_3'UTR|CTTN_uc001opw.4_3'UTR|CTTN_uc001opx.3_3'UTR	p.C633C	NM_001184740	NP_001171669	WXS	Illumina GAIIx	Phase_I	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	18	2105	+			0					Q8N707|Q96H99	Silent	SNP	ENST00000301843.8	37	c.1899C>T	CCDS41680.1																																																																																				0.532	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565		4	176	0	0	0	1	0	4	176				
EDDM3B	64184	broad.mit.edu	37	14	21238577	21238577	+	Nonsense_Mutation	SNP	C	C	T	rs201632508		TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr14:21238577C>T	ENST00000326783.3	+	2	366	c.268C>T	c.(268-270)Cga>Tga	p.R90*		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	90						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						GGATCGCTTCCGAAATGCATA	0.408																																						uc001vyd.3																			0				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						c.(268-270)Cga>Tga		Homo sapiens epididymal protein 3B (EDDM3B), mRNA.							105.0	98.0	100.0					14																	21238577		2203	4300	6503	SO:0001587	stop_gained	64184				spermatid development	extracellular region		g.chr14:21238577C>T	X76386	CCDS9557.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181552	ENSG00000181552			19223	protein-coding gene	gene with protein product		611582	"""family with sequence similarity 12, member B (epididymal)"""	FAM12B		7514008	Standard	NM_022360		Approved	HE3-BETA	uc001vyd.3	P56851	OTTHUMG00000029583	ENST00000326783.3:c.268C>T	14.37:g.21238577C>T	ENSP00000314810:p.Arg90*		Somatic				EDDM3B_uc021ron.1_Nonsense_Mutation_p.R90*	p.R90*	NM_022360	NP_071755	WXS	Illumina GAIIx	Phase_I	P56851	EP3B_HUMAN			1	366	+			90					A0PK89	Nonsense_Mutation	SNP	ENST00000326783.3	37	c.268C>T	CCDS9557.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431521	0.43122	.	.	ENSG00000181552	ENST00000326783	.	.	.	3.98	-1.49	0.08718	.	0.864385	0.09817	N	0.751944	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.9707	0.09452	0.336:0.4103:0.2537:0.0	.	.	.	.	X	90	.	ENSP00000314810:R90X	R	+	1	2	EDDM3B	20308417	0.064000	0.20934	0.001000	0.08648	0.003000	0.03518	0.033000	0.13754	-0.166000	0.10890	-0.535000	0.04281	CGA		0.408	EDDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073745.2			58	63	0	0	0	1	0	58	63				
PCSK1	5122	broad.mit.edu	37	5	95735729	95735729	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr5:95735729G>A	ENST00000311106.3	-	10	1595	c.1358C>T	c.(1357-1359)gCt>gTt	p.A453V	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.A406V	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	453					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCTGGGGTCAGCTAAATCCAC	0.463																																						uc003kls.2																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36						c.(1357-1359)gCt>gTt		Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						108.0	101.0	104.0					5																	95735729		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95735729G>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.1358C>T	5.37:g.95735729G>A	ENSP00000308024:p.Ala453Val		Somatic				PCSK1_uc010jbi.2_Missense_Mutation_p.A143V|PCSK1_uc021ybq.1_Missense_Mutation_p.A406V	p.A453V	NM_000439	NP_000430	WXS	Illumina GAIIx	Phase_I	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	9	1597	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	453					B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.1358C>T	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750754	0.89753	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.81996	-1.56;-1.56	5.48	5.48	0.80851	Galactose-binding domain-like (1);Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.045719	0.85682	D	0.000000	D	0.88959	0.6579	M	0.73962	2.25	0.80722	D	1	D;P	0.71674	0.998;0.955	P;B	0.55011	0.766;0.236	D	0.88943	0.3381	10	0.51188	T	0.08	-16.3135	19.3158	0.94213	0.0:0.0:1.0:0.0	.	406;453	E9PHA1;P29120	.;NEC1_HUMAN	V	453;406	ENSP00000308024:A453V;ENSP00000421600:A406V	ENSP00000308024:A453V	A	-	2	0	PCSK1	95761485	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.192000	0.94947	2.730000	0.93505	0.650000	0.86243	GCT		0.463	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		3	91	0	0	0	1	0	3	91				
CSMD3	114788	broad.mit.edu	37	8	113529419	113529419	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr8:113529419G>A	ENST00000297405.5	-	28	4844	c.4600C>T	c.(4600-4602)Ccc>Tcc	p.P1534S	CSMD3_ENST00000455883.2_Missense_Mutation_p.P1430S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1534S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1494S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1534	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P1534T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATTCATGGGGACCCCTGGG	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.3																			1	Substitution - Missense(1)	p.P1534T(2)	lung(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4600-4602)Ccc>Tcc		Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.							65.0	59.0	61.0					8																	113529419		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113529419G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4600C>T	8.37:g.113529419G>A	ENSP00000297405:p.Pro1534Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic				CSMD3_uc003yns.3_Missense_Mutation_p.P806S|CSMD3_uc003ynt.3_Missense_Mutation_p.P1494S|CSMD3_uc011lhx.2_Missense_Mutation_p.P1430S	p.P1534S	NM_198123	NP_937756	WXS	Illumina GAIIx	Phase_I	Q7Z407	CSMD3_HUMAN			27	4759	-			1534			Sushi 8.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4600C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558741	0.86231	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	4.56	4.56	0.56223	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.83294	0.5223	M	0.94101	3.495	0.43317	D	0.99533	D;D;B	0.59767	0.982;0.986;0.431	P;D;B	0.65323	0.891;0.934;0.219	D	0.87676	0.2544	10	0.54805	T	0.06	.	17.5002	0.87728	0.0:0.0:1.0:0.0	.	1430;1534;1494	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	1494;1534;874;1430;1534	ENSP00000345799:P1494S;ENSP00000297405:P1534S;ENSP00000341558:P874S;ENSP00000412263:P1430S;ENSP00000343124:P1534S	ENSP00000297405:P1534S	P	-	1	0	CSMD3	113598595	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.560000	0.98139	2.339000	0.79563	0.585000	0.79938	CCC		0.428	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		3	32	0	0	0	1	0	3	32				
NCAPG2	54892	broad.mit.edu	37	7	158448053	158448053	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr7:158448053A>G	ENST00000409423.1	-	21	2655	c.2483T>C	c.(2482-2484)cTg>cCg	p.L828P	NCAPG2_ENST00000275830.10_Missense_Mutation_p.L620P|NCAPG2_ENST00000356309.3_Missense_Mutation_p.L828P|NCAPG2_ENST00000541468.1_Missense_Mutation_p.L329P|NCAPG2_ENST00000449727.2_Missense_Mutation_p.L828P|NCAPG2_ENST00000409339.3_Missense_Mutation_p.L828P	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	828					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ATGGATGCTCAGGCGACAGTG	0.522																																						uc011kwe.1																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(2482-2484)cTg>cCg		Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.							142.0	158.0	153.0					7																	158448053		2081	4218	6299	SO:0001583	missense	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158448053A>G	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2483T>C	7.37:g.158448053A>G	ENSP00000386569:p.Leu828Pro		Somatic				NCAPG2_uc010lqu.1_Missense_Mutation_p.L620P|NCAPG2_uc003wnx.1_Missense_Mutation_p.L828P|NCAPG2_uc003wnv.1_Missense_Mutation_p.L828P|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Missense_Mutation_p.L329P|NCAPG2_uc011kwd.1_Missense_Mutation_p.L271P	p.L828P	NM_017760	NP_060230	WXS	Illumina GAIIx	Phase_I	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	19	2628	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	828					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	ENST00000409423.1	37	c.2483T>C	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.32|17.32	3.360034|3.360034	0.61403|0.61403	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727|ENST00000441982	T;T;T;T;T;T|.	0.57907|.	0.37;0.41;0.41;0.46;0.38;0.38|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.126462|.	0.50627|.	D|.	0.000107|.	T|.	0.69735|.	0.3144|.	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.988;1.0|.	D;D;P;D|.	0.73380|.	0.98;0.973;0.819;0.956|.	T|.	0.68720|.	-0.5334|.	10|.	0.87932|.	D|.	0|.	-8.5922|-8.5922	15.0346|15.0346	0.71734|0.71734	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	828;271;620;828|.	Q86XI2-2;B4DHE5;E7EUH9;Q86XI2|.	.;.;.;CNDG2_HUMAN|.	P|R	329;828;828;620;828;271;828|630	ENSP00000442337:L329P;ENSP00000348657:L828P;ENSP00000386569:L828P;ENSP00000275830:L620P;ENSP00000387007:L828P;ENSP00000388326:L828P|.	ENSP00000275830:L620P|.	L|X	-|-	2|1	0|0	NCAPG2|NCAPG2	158140814|158140814	1.000000|1.000000	0.71417|0.71417	0.629000|0.629000	0.29254|0.29254	0.190000|0.190000	0.23558|0.23558	8.240000|8.240000	0.89813|0.89813	1.964000|1.964000	0.57103|0.57103	0.459000|0.459000	0.35465|0.35465	CTG|TGA		0.522	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760		4	481	0	0	0	1	0	4	481				
PI4K2B	55300	broad.mit.edu	37	4	25265420	25265420	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr4:25265420A>G	ENST00000264864.6	+	7	1216	c.1027A>G	c.(1027-1029)Att>Gtt	p.I343V	PI4K2B_ENST00000512921.1_Missense_Mutation_p.I247V	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	343	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				AATAGCTGCAATTGATAATGG	0.303																																						uc003grk.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15						c.(1027-1029)Att>Gtt		Homo sapiens phosphatidylinositol 4-kinase type 2 beta (PI4K2B), mRNA.							116.0	122.0	120.0					4																	25265420		2203	4295	6498	SO:0001583	missense	55300					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding	g.chr4:25265420A>G	AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.1027A>G	4.37:g.25265420A>G	ENSP00000264864:p.Ile343Val		Somatic				PI4K2B_uc011bxs.2_Missense_Mutation_p.I247V	p.I343V	NM_018323	NP_060793	WXS	Illumina GAIIx	Phase_I	Q8TCG2	P4K2B_HUMAN			6	1160	+		Breast(46;0.173)	343			PI3K/PI4K.		Q9NUW2	Missense_Mutation	SNP	ENST00000264864.6	37	c.1027A>G	CCDS3433.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.269363	0.80469	.	.	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	D;D	0.83992	-1.79;-1.79	4.87	4.87	0.63330	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.93232	0.7844	H	0.94462	3.54	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.94771	0.7945	10	0.62326	D	0.03	-17.2387	14.4565	0.67420	1.0:0.0:0.0:0.0	.	343	Q8TCG2	P4K2B_HUMAN	V	247;343;312	ENSP00000423373:I247V;ENSP00000264864:I343V	ENSP00000264864:I343V	I	+	1	0	PI4K2B	24874518	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.287000	0.95975	1.822000	0.53115	0.460000	0.39030	ATT		0.303	PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323		41	50	0	0	0	1	0	41	50				
GPX8	493869	broad.mit.edu	37	5	54456042	54456042	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr5:54456042C>T	ENST00000503787.1	+	1	97	c.22C>T	c.(22-24)Ccg>Tcg	p.P8S	GPX8_ENST00000296734.6_Missense_Mutation_p.P8S|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000381375.2_Intron|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000515370.1_Missense_Mutation_p.P8S|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000334206.5_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)	8					response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	TGCAGCTTACCCGCTAAAATG	0.448																																						uc003jpq.2																			0		p.P8P(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11						c.(22-24)Ccg>Tcg		Homo sapiens glutathione peroxidase 8 (putative) (GPX8), mRNA.	Glutathione(DB00143)						77.0	77.0	77.0					5																	54456042		2203	4300	6503	SO:0001583	missense	493869				response to oxidative stress	integral to membrane	glutathione peroxidase activity	g.chr5:54456042C>T	BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.22C>T	5.37:g.54456042C>T	ENSP00000423822:p.Pro8Ser		Somatic				CDC20B_uc003jpo.2_Intron|CDC20B_uc003jpn.2_Intron|CDC20B_uc010ivu.2_Intron|CDC20B_uc010ivv.2_Intron|CDC20B_uc003jpp.3_Intron|GPX8_uc003jpr.2_Missense_Mutation_p.P8S|GPX8_uc003jps.2_Non-coding_Transcript|GPX8_uc003jpt.2_Missense_Mutation_p.P8S	p.P8S	NM_001008397	NP_001008398	WXS	Illumina GAIIx	Phase_I	Q8TED1	GPX8_HUMAN			0	59	+			8						Missense_Mutation	SNP	ENST00000503787.1	37	c.22C>T	CCDS34156.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126677	0.77549	.	.	ENSG00000164294	ENST00000503787;ENST00000296734;ENST00000515370	T;T	0.04970	3.52;3.64	5.93	5.04	0.67666	.	0.047935	0.85682	N	0.000000	T	0.07279	0.0184	N	0.19112	0.55	0.43555	D	0.995869	B;B;B	0.30542	0.039;0.284;0.018	B;B;B	0.40165	0.076;0.321;0.02	T	0.39375	-0.9617	10	0.52906	T	0.07	.	11.4456	0.50120	0.0:0.8511:0.0:0.1489	.	8;8;8	E7ETY7;B4DPY0;Q8TED1	.;.;GPX8_HUMAN	S	8	ENSP00000423822:P8S;ENSP00000427466:P8S	ENSP00000296734:P8S	P	+	1	0	GPX8	54491799	0.803000	0.28956	0.128000	0.21923	0.890000	0.51754	1.205000	0.32308	1.438000	0.47492	0.655000	0.94253	CCG		0.448	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369717.1	NM_001008397		45	40	0	0	0	1	0	45	40				
ZNF512B	57473	broad.mit.edu	37	20	62657293	62657293	+	Intron	SNP	C	C	T			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr20:62657293C>T	ENST00000450537.1	-	1	56				PRPF6_ENST00000535781.1_Intron|ZNF512B_ENST00000217130.3_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCCCTTCAGGCCAACCCCAAC	0.612																																						uc002yho.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.e15-1		Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.							215.0	222.0	219.0					20																	62657293		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62657293C>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+22764G>A	20.37:g.62657293C>T			Somatic				PRPF6_uc002yhp.3_Intron	p.A637_splice	NM_012469	NP_036601	WXS	Illumina GAIIx	Phase_I	O94906	PRP6_HUMAN			15	2077	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		637					Q08AK9|Q9ULM4	Splice_Site	SNP	ENST00000450537.1	37	c.1909_splice	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072177	0.76415	.	.	ENSG00000101161	ENST00000266079	T	0.34667	1.35	5.8	5.8	0.92144	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.48768	0.1518	M	0.82517	2.595	0.80722	D	1	B	0.30937	0.301	B	0.34242	0.178	T	0.45264	-0.9273	10	0.31617	T	0.26	-20.7258	20.0467	0.97609	0.0:1.0:0.0:0.0	.	637	O94906	PRP6_HUMAN	V	637	ENSP00000266079:A637V	ENSP00000266079:A637V	A	+	2	0	PRPF6	62127737	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	7.438000	0.80431	2.749000	0.94314	0.655000	0.94253	GCC		0.612	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		127	419	0	0	0	1	0	127	419				
GPR133	283383	broad.mit.edu	37	12	131484927	131484927	+	Splice_Site	SNP	G	G	C			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr12:131484927G>C	ENST00000261654.5	+	9	1525		c.e9-1		GPR133_ENST00000535015.1_Splice_Site|GPR133_ENST00000376682.4_5'Flank	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133						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(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCACCTTTAGACCTTCTTAA	0.478																																						uc010tbm.2																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.e10-1		Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.							186.0	168.0	174.0					12																	131484927		2203	4300	6503	SO:0001630	splice_region_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131484927G>C	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.967-1G>C	12.37:g.131484927G>C			Somatic				GPR133_uc001uit.4_Splice_Site_p.T323_splice	p.T355_splice	NM_198827	NP_942122	WXS	Illumina GAIIx	Phase_I	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	10	1622	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		323					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Splice_Site	SNP	ENST00000261654.5	37	c.1063_splice	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	9.520	1.107972	0.20714	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000544673;ENST00000545900	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8088	0.69977	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR133	130050880	1.000000	0.71417	0.693000	0.30195	0.017000	0.09413	4.924000	0.63418	2.251000	0.74343	0.609000	0.83330	.		0.478	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827	Intron	28	95	0	0	0	1	0	28	95				
EFNB3	1949	broad.mit.edu	37	17	7612771	7612771	+	Silent	SNP	C	C	T	rs528034465		TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr17:7612771C>T	ENST00000226091.2	+	5	1297	c.900C>T	c.(898-900)ggC>ggT	p.G300G		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	300					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCGGGGTGGCGGGGCTGCAG	0.667																																						uc002gis.3																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(898-900)ggC>ggT		Homo sapiens ephrin-B3 (EFNB3), mRNA.							44.0	43.0	44.0					17																	7612771		2199	4292	6491	SO:0001819	synonymous_variant	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612771C>T	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.900C>T	17.37:g.7612771C>T			Somatic					p.G300G	NM_001406	NP_001397	WXS	Illumina GAIIx	Phase_I	Q15768	EFNB3_HUMAN			4	1297	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	300					B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Silent	SNP	ENST00000226091.2	37	c.900C>T	CCDS11120.1																																																																																				0.667	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		15	85	0	0	0	1	0	15	85				
AHNAK2	113146	broad.mit.edu	37	14	105409977	105409977	+	Silent	SNP	G	G	A	rs569298803	byFrequency	TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr14:105409977G>A	ENST00000333244.5	-	7	11930	c.11811C>T	c.(11809-11811)gaC>gaT	p.D3937D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3937						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCTCGACGTCCACCTCCA	0.597													.|||	4	0.000798722	0.0023	0.0	5008	,	,		18962	0.001		0.0	False		,,,				2504	0.0					uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(11809-11811)gaC>gaT		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							151.0	165.0	160.0					14																	105409977		1980	4147	6127	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409977G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11811C>T	14.37:g.105409977G>A			Somatic				AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.D3837D	p.D3937D	NM_138420	NP_612429	WXS	Illumina GAIIx	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	11931	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3937					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.11811C>T	CCDS45177.1																																																																																				0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	408	0	0	0	1	0	6	408				
TRAPPC10	7109	broad.mit.edu	37	21	45511884	45511884	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr21:45511884A>G	ENST00000291574.4	+	19	3126	c.2951A>G	c.(2950-2952)gAt>gGt	p.D984G	TRAPPC10_ENST00000483973.1_3'UTR	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	984					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GATACCGGTGATAGTACCGAC	0.408																																						uc002zea.3																			0		p.G983D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(2950-2952)gAt>gGt		Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.							189.0	182.0	185.0					21																	45511884		2203	4300	6503	SO:0001583	missense	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45511884A>G	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2951A>G	21.37:g.45511884A>G	ENSP00000291574:p.Asp984Gly		Somatic				TRAPPC10_uc010gpo.3_Missense_Mutation_p.D695G|TRAPPC10_uc011afa.2_Missense_Mutation_p.D362G|TRAPPC10_uc011afb.1_Missense_Mutation_p.D89G	p.D984G	NM_003274	NP_003265	WXS	Illumina GAIIx	Phase_I	P48553	TPC10_HUMAN			18	3120	+			984					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	ENST00000291574.4	37	c.2951A>G	CCDS13704.1	.	.	.	.	.	.	.	.	.	.	A	7.935	0.741514	0.15642	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.23950	1.88	5.28	-0.525	0.11917	.	0.633872	0.17006	N	0.190713	T	0.11410	0.0278	N	0.14661	0.345	0.09310	N	1	B;B;B	0.13145	0.007;0.001;0.0	B;B;B	0.10450	0.005;0.001;0.0	T	0.27054	-1.0085	10	0.23302	T	0.38	.	5.6952	0.17851	0.5815:0.0:0.3039:0.1146	.	89;243;984	B4DV34;B4DI17;P48553	.;.;TPC10_HUMAN	G	984;115	ENSP00000291574:D984G	ENSP00000291574:D984G	D	+	2	0	TRAPPC10	44336312	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.031000	0.12287	-0.043000	0.13513	0.460000	0.39030	GAT		0.408	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		4	123	0	0	0	1	0	4	123				
SPATA25	128497	broad.mit.edu	37	20	44515629	44515629	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr20:44515629T>C	ENST00000372519.3	-	2	255	c.211A>G	c.(211-213)Agg>Ggg	p.R71G		NM_080608.3	NP_542175.1	Q9BR10	SPT25_HUMAN	spermatogenesis associated 25	71					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGGCAGCCCCTGGCTTGTGGC	0.642																																						uc002xqf.3																			0											c.(211-213)Agg>Ggg		Homo sapiens spermatogenesis associated 25 (SPATA25), mRNA.							85.0	95.0	92.0					20																	44515629		2203	4300	6503	SO:0001583	missense	128497					integral to membrane		g.chr20:44515629T>C	AL008726	CCDS13383.1	20q13.12	2011-11-24	2011-11-24	2011-11-24	ENSG00000149634	ENSG00000149634			16158	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 165"""	C20orf165		19240080	Standard	NM_080608		Approved	dJ337O18.8, TSG23	uc002xqf.3	Q9BR10	OTTHUMG00000032628	ENST00000372519.3:c.211A>G	20.37:g.44515629T>C	ENSP00000361597:p.Arg71Gly		Somatic					p.R71G	NM_080608	NP_542175	WXS	Illumina GAIIx	Phase_I	Q9BR10	CT165_HUMAN			1	220	-			71						Missense_Mutation	SNP	ENST00000372519.3	37	c.211A>G	CCDS13383.1	.	.	.	.	.	.	.	.	.	.	T	15.01	2.706974	0.48412	.	.	ENSG00000149634	ENST00000372519	T	0.54675	0.56	4.93	2.62	0.31277	.	0.000000	0.51477	D	0.000096	T	0.34019	0.0883	L	0.29908	0.895	0.35058	D	0.761256	B	0.11235	0.004	B	0.09377	0.004	T	0.26916	-1.0089	10	0.30854	T	0.27	-8.7666	5.3759	0.16164	0.0:0.2303:0.0:0.7697	.	71	Q9BR10	CT165_HUMAN	G	71	ENSP00000361597:R71G	ENSP00000361597:R71G	R	-	1	2	C20orf165	43949036	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.944000	0.40263	0.906000	0.36621	0.533000	0.62120	AGG		0.642	SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079541.1			73	210	0	0	0	1	0	73	210				
STK26	51765	broad.mit.edu	37	X	131205246	131205246	+	Splice_Site	SNP	G	G	A	rs181805052		TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chrX:131205246G>A	ENST00000354719.6	+	8	1148		c.e8+1		MST4_ENST00000394335.2_Splice_Site|MST4_ENST00000496850.1_Splice_Site|MST4_ENST00000481105.1_Splice_Site|MST4_ENST00000394334.2_Splice_Site																endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GCTCTGATTCGTATGTACAAA	0.348																																						uc011mux.1																			0				endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23						c.e9+1		Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.							97.0	98.0	98.0					X																	131205246		2203	4299	6502	SO:0001630	splice_region_variant	51765				cellular component disassembly involved in apoptosis|regulation of apoptosis	Golgi membrane|cytosol	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131205246G>A																												ENST00000354719.6:c.932+1G>A	X.37:g.131205246G>A			Somatic				MST4_uc004ewk.1_Splice_Site_p.S311_splice|MST4_uc004ewl.1_Splice_Site_p.S234_splice|MST4_uc010nrj.1_Splice_Site_p.S311_splice|MST4_uc004ewm.1_Splice_Site_p.S249_splice	p.S333_splice	NM_016542	NP_057626	WXS	Illumina GAIIx	Phase_I	Q9P289	MST4_HUMAN			9	1299	+	Acute lymphoblastic leukemia(192;0.000127)		311						Splice_Site	SNP	ENST00000354719.6	37	c.998_splice		.	.	.	.	.	.	.	.	.	.	G	22.7	4.325722	0.81580	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000394335;ENST00000496850	.	.	.	5.99	5.99	0.97316	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4045	0.94643	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AL109749.1	131032927	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	8.901000	0.92560	2.536000	0.85505	0.600000	0.82982	.		0.348	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2		Intron	12	110	0	0	0	1	0	12	110				
ELL	8178	broad.mit.edu	37	19	18572546	18572546	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr19:18572546C>T	ENST00000262809.4	-	5	657	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	ELL_ENST00000596124.3_Missense_Mutation_p.V63M	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	196					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CCCCCACTCACGGCACTGGCA	0.667			T	MLL	AL						OREG0025366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002njh.3				Dom	yes		19	19p13.1	8178	T	ELL gene (11-19 lysine-rich leukemia gene)			L	MLL		AL		0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19						c.(586-588)Gtg>Atg		Homo sapiens elongation factor RNA polymerase II (ELL), mRNA.							58.0	55.0	56.0					19																	18572546		2203	4300	6503	SO:0001583	missense	8178				positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding	g.chr19:18572546C>T	U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.586G>A	19.37:g.18572546C>T	ENSP00000262809:p.Val196Met		Somatic	OREG0025366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	726	ELL_uc010ebq.3_Missense_Mutation_p.V139M|ELL_uc002njg.3_Missense_Mutation_p.V63M	p.V196M	NM_006532	NP_006523	WXS	Illumina GAIIx	Phase_I	P55199	ELL_HUMAN		GBM - Glioblastoma multiforme(1328;7.81e-07)	4	658	-			196						Missense_Mutation	SNP	ENST00000262809.4	37	c.586G>A	CCDS12380.1	.	.	.	.	.	.	.	.	.	.	C	0.118	-1.129622	0.01756	.	.	ENSG00000105656	ENST00000262809	T	0.22743	1.94	2.73	-5.46	0.02608	.	4.339300	0.01066	N	0.004720	T	0.10121	0.0248	N	0.08118	0	0.09310	N	1	B;B	0.18166	0.026;0.011	B;B	0.08055	0.003;0.003	T	0.19289	-1.0310	10	0.39692	T	0.17	.	5.758	0.18184	0.0:0.3116:0.208:0.4804	.	140;196	Q59HG4;P55199	.;ELL_HUMAN	M	196	ENSP00000262809:V196M	ENSP00000262809:V196M	V	-	1	0	ELL	18433546	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.506000	0.06359	-2.101000	0.00846	-2.320000	0.00252	GTG		0.667	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466362.1	NM_006532		25	39	0	0	0	1	0	25	39				
NEDD4L	23327	broad.mit.edu	37	18	55998052	55998052	+	Missense_Mutation	SNP	G	G	T	rs369196753		TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr18:55998052G>T	ENST00000400345.3	+	11	1179	c.896G>T	c.(895-897)gGa>gTa	p.G299V	NEDD4L_ENST00000256830.9_Missense_Mutation_p.G299V|NEDD4L_ENST00000435432.2_Missense_Mutation_p.G178V|NEDD4L_ENST00000256832.7_Missense_Mutation_p.G178V|NEDD4L_ENST00000456986.1_Missense_Mutation_p.G178V|NEDD4L_ENST00000382850.4_Missense_Mutation_p.G299V|NEDD4L_ENST00000431212.2_Missense_Mutation_p.G178V|NEDD4L_ENST00000456173.2_Missense_Mutation_p.G178V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.G291V|NEDD4L_ENST00000356462.6_Missense_Mutation_p.G299V|NEDD4L_ENST00000357895.5_Missense_Mutation_p.G291V|NEDD4L_ENST00000589054.1_Intron	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	299					cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GCCTCCCCAGGATCTCGGACC	0.542																																						uc002lgy.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						c.(895-897)gGa>gTa		Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.							53.0	55.0	54.0					18																	55998052		1861	4095	5956	SO:0001583	missense	23327				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55998052G>T	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.896G>T	18.37:g.55998052G>T	ENSP00000383199:p.Gly299Val		Somatic				NEDD4L_uc002lgz.3_Missense_Mutation_p.G299V|NEDD4L_uc002lgx.3_Missense_Mutation_p.G299V|NEDD4L_uc010xee.1_Missense_Mutation_p.G178V|NEDD4L_uc002lhc.2_Missense_Mutation_p.G291V|NEDD4L_uc002lhd.2_Missense_Mutation_p.G178V|NEDD4L_uc002lhb.2_Missense_Mutation_p.G178V|NEDD4L_uc002lhe.2_Missense_Mutation_p.G291V|NEDD4L_uc002lhf.3_Missense_Mutation_p.G178V|NEDD4L_uc002lhg.3_Missense_Mutation_p.G178V|NEDD4L_uc002lhh.2_Missense_Mutation_p.G178V|NEDD4L_uc010dpm.1_Missense_Mutation_p.G150V	p.G299V	NM_001144967	NP_001138439	WXS	Illumina GAIIx	Phase_I	Q96PU5	NED4L_HUMAN			10	1179	+			299					O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	c.896G>T	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	G	6.309	0.425077	0.11987	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.31247	1.5;1.51;1.52;1.53;2.0;1.98;1.9;2.0;2.0;1.98	5.58	4.43	0.53597	.	4.579650	0.00531	N	0.000219	T	0.19406	0.0466	N	0.08118	0	0.18873	N	0.999988	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.001;0.0;0.0	T	0.24764	-1.0151	10	0.20519	T	0.43	.	7.9169	0.29822	0.1319:0.0:0.1493:0.7189	.	299;291;291;178;299;299;299	Q96PU5-3;Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;.;NED4L_HUMAN;.	V	299;299;299;299;178;178;291;178;178;178	ENSP00000383199:G299V;ENSP00000372301:G299V;ENSP00000348847:G299V;ENSP00000256830:G299V;ENSP00000256832:G178V;ENSP00000411947:G178V;ENSP00000350569:G291V;ENSP00000393395:G178V;ENSP00000405440:G178V;ENSP00000389406:G178V	ENSP00000256830:G299V	G	+	2	0	NEDD4L	54149032	0.416000	0.25424	0.315000	0.25238	0.626000	0.37791	1.691000	0.37721	0.956000	0.37904	-0.262000	0.10625	GGA		0.542	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			6	47	0	0	0	1	0	6	47				
TG	7038	broad.mit.edu	37	8	133885318	133885318	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr8:133885318T>G	ENST00000220616.4	+	5	530	c.490T>G	c.(490-492)Tgt>Ggt	p.C164G	TG_ENST00000377869.1_Missense_Mutation_p.C164G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	164	Thyroglobulin type-1 3. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCCAAGGAGCTGTGAAATAAG	0.448																																						uc003ytw.3																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(490-492)Tgt>Ggt		Homo sapiens thyroglobulin (TG), mRNA.							75.0	72.0	73.0					8																	133885318		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133885318T>G	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.490T>G	8.37:g.133885318T>G	ENSP00000220616:p.Cys164Gly		Somatic					p.C164G	NM_003235	NP_003226	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	4	531	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	164			Thyroglobulin type-1 3.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.490T>G	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.395684	0.83011	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	D;D	0.96830	-4.14;-4.14	5.84	5.84	0.93424	Thyroglobulin type-1 (5);	0.000000	0.64402	D	0.000001	D	0.97766	0.9267	M	0.72894	2.215	0.58432	D	0.999991	D	0.89917	1.0	D	0.87578	0.998	D	0.98574	1.0647	10	0.87932	D	0	.	15.3856	0.74699	0.0:0.0:0.0:1.0	.	164	P01266	THYG_HUMAN	G	164	ENSP00000367100:C164G;ENSP00000220616:C164G	ENSP00000220616:C164G	C	+	1	0	TG	133954500	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.184000	0.77705	2.234000	0.73211	0.459000	0.35465	TGT		0.448	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		5	36	0	0	0	1	0	5	36				
PRKAG2	51422	broad.mit.edu	37	7	151573629	151573629	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr7:151573629G>A	ENST00000287878.4	-	1	581	c.77C>T	c.(76-78)gCc>gTc	p.A26V	PRKAG2-AS1_ENST00000467458.1_RNA|PRKAG2-AS1_ENST00000464464.1_RNA	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	26					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	CTTCTGGCTGGCATTTTTCTT	0.607																																						uc003wkk.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26						c.(76-78)gCc>gTc		Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.							76.0	79.0	78.0					7																	151573629		2203	4300	6503	SO:0001583	missense	51422				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	g.chr7:151573629G>A	AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.77C>T	7.37:g.151573629G>A	ENSP00000287878:p.Ala26Val		Somatic				PRKAG2_uc010lqe.1_Non-coding_Transcript|PRKAG2_uc003wkm.1_Missense_Mutation_p.A26V|LOC100505483_uc003wko.2_5'Flank	p.A26V	NM_016203	NP_077747	WXS	Illumina GAIIx	Phase_I	Q9UGJ0	AAKG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	0	688	-	all_neural(206;0.187)	all_hematologic(28;0.0605)	26					Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	ENST00000287878.4	37	c.77C>T	CCDS5928.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941899	0.34283	.	.	ENSG00000106617	ENST00000287878	D	0.84298	-1.83	4.01	2.17	0.27698	.	1.157260	0.06365	N	0.712480	T	0.70684	0.3252	N	0.08118	0	0.09310	N	0.999999	B;B	0.19200	0.034;0.002	B;B	0.22601	0.04;0.003	T	0.57888	-0.7733	10	0.33940	T	0.23	.	5.4414	0.16511	0.1154:0.2254:0.6591:0.0	.	26;26	Q8NCK6;Q9UGJ0	.;AAKG2_HUMAN	V	26	ENSP00000287878:A26V	ENSP00000287878:A26V	A	-	2	0	PRKAG2	151204562	0.570000	0.26651	0.021000	0.16686	0.977000	0.68977	1.476000	0.35420	0.349000	0.23975	0.449000	0.29647	GCC		0.607	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348440.2	NM_016203		4	150	0	0	0	1	0	4	150				
ZNF850	342892	broad.mit.edu	37	19	37238763	37238764	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-EM-A3AI-01A-11D-A202-08	TCGA-EM-A3AI-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e2d60229-ba66-4c45-968a-72292b48add3	466ebb6e-b9e9-4556-9f48-3b7685f0f4e2	g.chr19:37238763_37238764delGT	ENST00000591344.1	-	5	3336_3337	c.3178_3179delAC	c.(3178-3180)actfs	p.T1060fs	ZNF850_ENST00000589390.1_Intron	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	1060					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTTCTCGCCAGTGTGAACACTC	0.421																																						uc010efc.3																			0											c.(3178-3180)actfs		Homo sapiens zinc finger protein 850 (ZNF850), mRNA.																																				SO:0001589	frameshift_variant	342892				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37238763_37238764delGT	BC052603	CCDS59379.1, CCDS74350.1	19q13.12	2013-01-08	2010-08-02	2010-08-02		ENSG00000267041		"""Zinc fingers, C2H2-type"", ""-"""	27994	protein-coding gene	gene with protein product			"""zinc finger protein 850 pseudogene"", ""zinc finger protein 850 (pseudogene)"""	ZNF850P		12477932	Standard	NM_001193552		Approved		uc010efc.3	A8MQ14		ENST00000591344.1:c.3178_3179delAC	19.37:g.37238765_37238766delGT	ENSP00000464976:p.Thr1060fs		Somatic				ZNF850_uc010xtm.2_Frame_Shift_Del_p.T1026fs	p.T1060fs	NM_001193552	NP_001180481	WXS	Illumina GAIIx	Phase_I	A8MQ14	ZN850_HUMAN			4	3337_3338	-			1060						Frame_Shift_Del	DEL	ENST00000591344.1	37	c.3178_3179delAC	CCDS59379.1																																																																																				0.421	ZNF850-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453557.1	XM_001720258		2	4						2	4	---	---	---	---
