#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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			10	190	0	0	0	1	0	10	190				
AGK	55750	broad.mit.edu	37	7	141315347	141315347	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr7:141315347A>T	ENST00000355413.4	+	8	760	c.500A>T	c.(499-501)gAa>gTa	p.E167V	AGK_ENST00000535825.1_Missense_Mutation_p.E164V|AGK_ENST00000473247.1_Missense_Mutation_p.E139V	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	167	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.E167V(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CTCTTTGCCGAAAGTGGAAAC	0.443																																						ENST00000355413.4																			2	Substitution - Missense(2)	p.E167V(2)	prostate(2)	breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17						c.(499-501)gAa>gTa		acylglycerol kinase							162.0	161.0	162.0					7																	141315347		2203	4300	6503	SO:0001583	missense	55750				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	g.chr7:141315347A>T	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.500A>T	7.37:g.141315347A>T	ENSP00000347581:p.Glu167Val					AGK_ENST00000535825.1_Missense_Mutation_p.E164V|AGK_ENST00000473247.1_Missense_Mutation_p.E139V	p.E167V	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN			8	760	+	Melanoma(164;0.0171)		167			DAGKc.		Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	37	c.500A>T	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.170600	0.38315	.	.	ENSG00000006530	ENST00000355413;ENST00000473247;ENST00000535825	T;T;T	0.22743	1.94;1.94;1.94	5.2	3.96	0.45880	ATP-NAD kinase, PpnK-type, alpha/beta (1);Diacylglycerol kinase, catalytic domain (3);	0.397194	0.27792	N	0.017833	T	0.15609	0.0376	L	0.36672	1.1	0.36007	D	0.837806	B	0.13594	0.008	B	0.19148	0.024	T	0.12268	-1.0554	10	0.16896	T	0.51	.	11.1277	0.48328	0.8456:0.1544:0.0:0.0	.	167	Q53H12	AGK_HUMAN	V	167;139;164	ENSP00000347581:E167V;ENSP00000420776:E139V;ENSP00000444349:E164V	ENSP00000347581:E167V	E	+	2	0	AGK	140961816	0.989000	0.36119	0.674000	0.29902	0.968000	0.65278	2.725000	0.47294	2.086000	0.62901	0.482000	0.46254	GAA		0.443	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		68	321	0	0	0	1	0	68	321				
ATF7IP	55729	broad.mit.edu	37	12	14628823	14628823	+	Splice_Site	SNP	G	G	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr12:14628823G>T	ENST00000540793.1	+	10	3017		c.e10-1		ATF7IP_ENST00000536444.1_Splice_Site|ATF7IP_ENST00000544627.1_Splice_Site|ATF7IP_ENST00000261168.4_Splice_Site|ATF7IP_ENST00000543189.1_Splice_Site			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein						DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.?(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TTGTTTTTCAGTGTGGAAAAG	0.363																																						ENST00000544627.1																			1	Unknown(1)	p.?(1)	prostate(1)	cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.e11-1		activating transcription factor 7 interacting protein							124.0	118.0	120.0					12																	14628823		2203	4300	6503	SO:0001630	splice_region_variant	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14628823G>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2863-1G>T	12.37:g.14628823G>T						ATF7IP_ENST00000536444.1_Splice_Site|ATF7IP_ENST00000540793.1_Splice_Site|ATF7IP_ENST00000261168.4_Splice_Site|ATF7IP_ENST00000543189.1_Splice_Site				Q6VMQ6	MCAF1_HUMAN			11	3206	+								F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Splice_Site	SNP	ENST00000540793.1	37		CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227896	0.39399	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2113	0.89871	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATF7IP	14520090	1.000000	0.71417	1.000000	0.80357	0.261000	0.26267	6.327000	0.72910	2.732000	0.93576	0.585000	0.79938	.		0.363	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179	Intron	18	101	1	0	2.94398e-08	1	3.53278e-08	18	101				
TRPV2	51393	broad.mit.edu	37	17	16321054	16321054	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:16321054G>T	ENST00000338560.7	+	2	471	c.72G>T	c.(70-72)gaG>gaT	p.E24D	TRPV2_ENST00000577397.1_5'UTR|RP11-138I1.2_ENST00000580996.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	24	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)	p.E24D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATGGCTCTGAGGCGGACAGAG	0.577																																						ENST00000338560.7																			1	Substitution - Missense(1)	p.E24D(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(70-72)gaG>gaT		transient receptor potential cation channel, subfamily V, member 2							72.0	65.0	67.0					17																	16321054		2203	4300	6503	SO:0001583	missense	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16321054G>T	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.72G>T	17.37:g.16321054G>T	ENSP00000342222:p.Glu24Asp					TRPV2_ENST00000577397.1_5'UTR	p.E24D	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	2	471	+			24			Required for interaction with SLC50A1 (By similarity).		A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	ENST00000338560.7	37	c.72G>T	CCDS32576.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487454	0.26686	.	.	ENSG00000187688	ENST00000338560	D	0.87412	-2.25	5.62	2.15	0.27550	.	1.885670	0.02180	N	0.060405	T	0.80534	0.4641	L	0.44542	1.39	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.58858	-0.7562	10	0.15952	T	0.53	-11.2032	1.8171	0.03102	0.1772:0.2147:0.4583:0.1499	.	24	Q9Y5S1	TRPV2_HUMAN	D	24	ENSP00000342222:E24D	ENSP00000342222:E24D	E	+	3	2	TRPV2	16261779	0.043000	0.20138	0.220000	0.23810	0.010000	0.07245	-0.147000	0.10234	0.814000	0.34374	0.557000	0.71058	GAG		0.577	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		4	109	1	0	0.00024832	1	0.000283794	4	109				
OR6K2	81448	broad.mit.edu	37	1	158669837	158669837	+	Silent	SNP	G	G	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr1:158669837G>T	ENST00000359610.2	-	1	649	c.606C>A	c.(604-606)gtC>gtA	p.V202V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V202V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CTGCATGAATGACATCCACTA	0.483																																						ENST00000359610.2																			1	Substitution - coding silent(1)	p.V202V(1)	prostate(1)	breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(604-606)gtC>gtA		olfactory receptor, family 6, subfamily K, member 2							169.0	135.0	146.0					1																	158669837		2203	4300	6503	SO:0001819	synonymous_variant	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669837G>T	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.606C>A	1.37:g.158669837G>T							p.V202V	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	649	-	all_hematologic(112;0.0378)		202					B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	37	c.606C>A	CCDS30902.1																																																																																				0.483	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		31	194	1	0	3.62531e-18	1	4.46192e-18	31	194				
ADAMTSL1	92949	broad.mit.edu	37	9	18662047	18662047	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr9:18662047G>A	ENST00000380548.4	+	9	1400	c.1061G>A	c.(1060-1062)tGc>tAc	p.C354Y	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C354Y	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	354						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C354Y(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTTCAGGAGTGCAACTTGGAT	0.418																																						ENST00000380548.4																			2	Substitution - Missense(2)	p.C354Y(2)	prostate(2)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1060-1062)tGc>tAc		ADAMTS-like 1							152.0	134.0	140.0					9																	18662047		2203	4300	6503	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18662047G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1061G>A	9.37:g.18662047G>A	ENSP00000369921:p.Cys354Tyr					ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C354Y	p.C354Y	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	9	1400	+			354					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.1061G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596837	0.86953	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	5.49	5.49	0.81192	.	.	.	.	.	D	0.93452	0.7911	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95159	0.8280	9	0.87932	D	0	.	19.3747	0.94503	0.0:0.0:1.0:0.0	.	354;354	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	Y	354	ENSP00000369921:C354Y;ENSP00000327887:C354Y;ENSP00000369940:C354Y;ENSP00000276935:C354Y	ENSP00000276935:C354Y	C	+	2	0	ADAMTSL1	18652047	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.807000	0.99171	2.593000	0.87608	0.655000	0.94253	TGC		0.418	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			38	209	0	0	0	1	0	38	209				
ATG5	9474	broad.mit.edu	37	6	106764041	106764041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr6:106764041G>A	ENST00000369076.3	-	2	366	c.43C>T	c.(43-45)Cga>Tga	p.R15*	ATG5_ENST00000369070.1_De_novo_Start_OutOfFrame|ATG5_ENST00000343245.3_Nonsense_Mutation_p.R15*|ATG5_ENST00000360666.4_Nonsense_Mutation_p.R15*	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	15					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|blood vessel remodeling (GO:0001974)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative stranded viral RNA replication (GO:0039689)|otolith development (GO:0048840)|post-translational protein modification (GO:0043687)|regulation of cilium assembly (GO:1902017)|regulation of cytokine secretion involved in immune response (GO:0002739)|response to drug (GO:0042493)|response to fungus (GO:0009620)|vasodilation (GO:0042311)|ventricular cardiac muscle cell development (GO:0055015)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|membrane (GO:0016020)|pre-autophagosomal structure membrane (GO:0034045)		p.R15*(1)		endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		GTTGGAATTCGTCCAAACCAC	0.378																																						ENST00000369076.3																			1	Substitution - Nonsense(1)	p.R15*(1)	prostate(1)	endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8						c.(43-45)Cga>Tga		autophagy related 5							230.0	206.0	214.0					6																	106764041		2203	4300	6503	SO:0001587	stop_gained	9474				apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr6:106764041G>A	Y11588	CCDS5055.1, CCDS69159.1, CCDS75498.1	6q21	2014-02-12	2012-06-06	2005-09-11	ENSG00000057663	ENSG00000057663			589	protein-coding gene	gene with protein product		604261	"""APG5 (autophagy 5, S. cerevisiae)-like"", ""APG5 autophagy 5-like (S. cerevisiae)"", ""ATG5 autophagy related 5 homolog (S. cerevisiae)"""	APG5L		9563500, 11349150, 15778222	Standard	NM_001286111		Approved	ASP, APG5, hAPG5	uc003prf.3	Q9H1Y0	OTTHUMG00000016193	ENST00000369076.3:c.43C>T	6.37:g.106764041G>A	ENSP00000358072:p.Arg15*					ATG5_ENST00000343245.3_Nonsense_Mutation_p.R15*|ATG5_ENST00000360666.4_Nonsense_Mutation_p.R15*|ATG5_ENST00000369070.1_De_novo_Start_OutOfFrame	p.R15*	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)	2	366	-	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	15					O60875|Q5JVR2|Q68DI4|Q9H2B8|Q9HCZ7	Nonsense_Mutation	SNP	ENST00000369076.3	37	c.43C>T	CCDS5055.1	.	.	.	.	.	.	.	.	.	.	G	38	7.257072	0.98168	.	.	ENSG00000057663	ENST00000369076;ENST00000343245;ENST00000360666	.	.	.	5.15	4.28	0.50868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	5.4776	13.7184	0.62712	0.0748:0.0:0.9252:0.0	.	.	.	.	X	15	.	ENSP00000343313:R15X	R	-	1	2	ATG5	106870734	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.457000	0.80775	1.159000	0.42565	0.655000	0.94253	CGA		0.378	ATG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043476.1	NM_004849		42	234	0	0	0	1	0	42	234				
KIF23	9493	broad.mit.edu	37	15	69740133	69740133	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr15:69740133G>A	ENST00000260363.4	+	23	2987	c.2870G>A	c.(2869-2871)cGc>cAc	p.R957H	KIF23_ENST00000395392.2_Missense_Mutation_p.R949H|KIF23_ENST00000558585.1_Missense_Mutation_p.R670H|KIF23_ENST00000537891.1_Missense_Mutation_p.R670H|KIF23_ENST00000352331.4_Missense_Mutation_p.R853H|KIF23_ENST00000559279.1_Missense_Mutation_p.R853H	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	957					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)	p.R957H(2)		central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TGTTTTAGGCGCAAAAAGCCA	0.398																																						ENST00000260363.4																			2	Substitution - Missense(2)	p.R957H(2)	prostate(2)	central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(2869-2871)cGc>cAc		kinesin family member 23							143.0	130.0	134.0					15																	69740133		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69740133G>A	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.2870G>A	15.37:g.69740133G>A	ENSP00000260363:p.Arg957His					KIF23_ENST00000537891.1_Missense_Mutation_p.R670H|KIF23_ENST00000352331.4_Missense_Mutation_p.R853H|KIF23_ENST00000395392.2_Missense_Mutation_p.R949H|KIF23_ENST00000558585.1_Missense_Mutation_p.R670H|KIF23_ENST00000559279.1_Missense_Mutation_p.R853H	p.R957H	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			23	2987	+			957					Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.2870G>A	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873821	0.72180	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000537891	T;T;T	0.78481	-1.0;-0.98;-1.18	5.03	5.03	0.67393	.	0.066041	0.64402	D	0.000008	T	0.78310	0.4263	N	0.14661	0.345	0.42665	D	0.993494	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.78314	0.991;0.984;0.991	T	0.81885	-0.0727	10	0.87932	D	0	.	13.73	0.62781	0.0:0.0:1.0:0.0	.	670;853;957	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	H	957;853;670	ENSP00000260363:R957H;ENSP00000304978:R853H;ENSP00000442969:R670H	ENSP00000260363:R957H	R	+	2	0	KIF23	67527187	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.547000	0.53663	2.604000	0.88044	0.650000	0.86243	CGC		0.398	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				4	217	0	0	0	1	0	4	217				
PLA2G4A	5321	broad.mit.edu	37	1	186915867	186915867	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr1:186915867G>A	ENST00000367466.3	+	11	1284	c.1132G>A	c.(1132-1134)Gtt>Att	p.V378I	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.V318I	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	378	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.V378I(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GGGAACAGTCGTTAAGAAGTA	0.338																																						ENST00000367466.3																			2	Substitution - Missense(2)	p.V378I(2)	prostate(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(1132-1134)Gtt>Att		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						83.0	82.0	82.0					1																	186915867		2203	4299	6502	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186915867G>A	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1132G>A	1.37:g.186915867G>A	ENSP00000356436:p.Val378Ile					PLA2G4A_ENST00000442353.2_Missense_Mutation_p.V318I	p.V378I	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN			11	1284	+			378			PLA2c.		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.1132G>A	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132144	0.37630	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.05025	3.51;3.51	5.91	5.91	0.95273	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.109197	0.64402	D	0.000008	T	0.05364	0.0142	N	0.26042	0.785	0.46678	D	0.999154	B;B	0.24882	0.113;0.094	B;B	0.21360	0.034;0.024	T	0.48043	-0.9069	10	0.20046	T	0.44	-19.3515	12.5706	0.56334	0.0749:0.0:0.9251:0.0	.	318;378	E7EU42;P47712	.;PA24A_HUMAN	I	378;318	ENSP00000356436:V378I;ENSP00000406892:V318I	ENSP00000356436:V378I	V	+	1	0	PLA2G4A	185182490	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.657000	0.74402	2.793000	0.96121	0.655000	0.94253	GTT		0.338	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		21	117	0	0	0	1	0	21	117				
TNKS2	80351	broad.mit.edu	37	10	93600428	93600428	+	Silent	SNP	A	A	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr10:93600428A>G	ENST00000371627.4	+	14	2017	c.1638A>G	c.(1636-1638)ctA>ctG	p.L546L		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	546	HIF1AN-binding.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L546L(2)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AATATCTGCTACAGCATGGAG	0.433																																						ENST00000371627.4																			2	Substitution - coding silent(2)	p.L546L(2)	prostate(2)	biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48						c.(1636-1638)ctA>ctG		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2							215.0	183.0	194.0					10																	93600428		2203	4300	6503	SO:0001819	synonymous_variant	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93600428A>G	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1638A>G	10.37:g.93600428A>G							p.L546L	NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN			14	2017	+		Colorectal(252;0.162)	546					B2RBD3|Q9H8F2|Q9HAS4	Silent	SNP	ENST00000371627.4	37	c.1638A>G	CCDS7417.1																																																																																				0.433	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		7	330	0	0	0	1	0	7	330				
CD79B	974	broad.mit.edu	37	17	62007651	62007651	+	Silent	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:62007651G>A	ENST00000006750.3	-	3	305	c.213C>T	c.(211-213)tcC>tcT	p.S71S	CD79B_ENST00000392795.3_Silent_p.S72S|CD79B_ENST00000349817.2_Intron	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	71	Ig-like V-type.				B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.S71S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCACATTGCCGGAGGCGCTGT	0.567			"""Mis, O"""		DLBCL																																	ENST00000006750.3				Dom	yes		17	17q23	974	"""Mis, O"""	"""CD79b molecule, immunoglobulin-associated beta"""			L			DLBCL		1	Substitution - coding silent(1)	p.S71S(1)	prostate(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						c.(211-213)tcC>tcT		CD79b molecule, immunoglobulin-associated beta							96.0	83.0	88.0					17																	62007651		2203	4300	6503	SO:0001819	synonymous_variant	0				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity	g.chr17:62007651G>A	L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1699	protein-coding gene	gene with protein product		147245	"""CD79B antigen (immunoglobulin-associated beta)"""	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.213C>T	17.37:g.62007651G>A						CD79B_ENST00000392795.3_Silent_p.S72S|CD79B_ENST00000349817.2_Intron	p.S71S	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN			3	305	-			71			Ig-like V-type.		Q53FS2|Q9BU06	Silent	SNP	ENST00000006750.3	37	c.213C>T	CCDS11655.1																																																																																				0.567	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1			12	88	0	0	0	1	0	12	88				
RPS6KB2	6199	broad.mit.edu	37	11	67196653	67196653	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr11:67196653G>A	ENST00000312629.5	+	3	227	c.182G>A	c.(181-183)cGc>cAc	p.R61H	AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R61H	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	61					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)	p.R61H(3)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GGCCCAGAGCGCATCGGGCCC	0.622																																						ENST00000312629.5																			3	Substitution - Missense(3)	p.R61H(3)	prostate(3)	breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.(181-183)cGc>cAc		ribosomal protein S6 kinase, 70kDa, polypeptide 2							83.0	92.0	89.0					11																	67196653		2142	4222	6364	SO:0001583	missense	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67196653G>A	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.182G>A	11.37:g.67196653G>A	ENSP00000308413:p.Arg61His					RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R61H	p.R61H	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		3	227	+			61					B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	ENST00000312629.5	37	c.182G>A	CCDS41677.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.011518	0.54468	.	.	ENSG00000175634	ENST00000524934;ENST00000524814;ENST00000539188;ENST00000312629	T;T;T	0.75477	-0.94;0.7;-0.42	4.55	1.59	0.23543	Protein kinase-like domain (1);	0.070349	0.53938	N	0.000052	T	0.58004	0.2092	L	0.40543	1.245	0.35016	D	0.757408	B;B	0.34349	0.45;0.051	B;B	0.22880	0.042;0.008	T	0.63844	-0.6545	10	0.66056	D	0.02	.	8.0448	0.30542	0.3434:0.0:0.6566:0.0	.	61;61	Q9BRS0;Q9UBS0	.;KS6B2_HUMAN	H	84;61;61;61	ENSP00000436811:R84H;ENSP00000442949:R61H;ENSP00000308413:R61H	ENSP00000308413:R61H	R	+	2	0	RPS6KB2	66953229	0.624000	0.27102	0.993000	0.49108	0.855000	0.48748	0.708000	0.25719	0.543000	0.28864	0.655000	0.94253	CGC		0.622	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952		4	192	0	0	0	1	0	4	192				
PKD2L1	9033	broad.mit.edu	37	10	102051147	102051147	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr10:102051147C>T	ENST00000318222.3	-	12	2300	c.1918G>A	c.(1918-1920)Gcc>Acc	p.A640T	PKD2L1_ENST00000338519.3_Missense_Mutation_p.A565T|PKD2L1_ENST00000353274.3_Missense_Mutation_p.A640T	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	640	EF-hand.				cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.A640T(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GTGAAGGTGGCCGTGAGCTCA	0.507																																						ENST00000318222.3																			1	Substitution - Missense(1)	p.A640T(1)	prostate(1)	NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1918-1920)Gcc>Acc		polycystic kidney disease 2-like 1							183.0	148.0	160.0					10																	102051147		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102051147C>T	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1918G>A	10.37:g.102051147C>T	ENSP00000325296:p.Ala640Thr					PKD2L1_ENST00000338519.3_Missense_Mutation_p.A565T|PKD2L1_ENST00000353274.3_Missense_Mutation_p.A640T	p.A640T	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	12	2300	-		Colorectal(252;0.117)	640					O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.1918G>A	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560702	0.65538	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.65364	0.02;-0.15;-0.13	5.55	4.65	0.58169	EF-hand-like domain (1);	0.155820	0.56097	N	0.000025	T	0.63307	0.2500	M	0.76838	2.35	0.47659	D	0.999489	B;B	0.23735	0.09;0.014	B;B	0.25405	0.06;0.027	T	0.63928	-0.6526	10	0.56958	D	0.05	-4.8476	11.5995	0.50995	0.0:0.918:0.0:0.082	.	593;640	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	T	565;640;640;638	ENSP00000345068:A565T;ENSP00000266049:A640T;ENSP00000325296:A640T	ENSP00000325296:A640T	A	-	1	0	PKD2L1	102041137	1.000000	0.71417	0.983000	0.44433	0.914000	0.54420	4.762000	0.62250	1.347000	0.45714	0.655000	0.94253	GCC		0.507	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		4	168	0	0	0	1	0	4	168				
SLC36A2	153201	broad.mit.edu	37	5	150701741	150701741	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr5:150701741C>T	ENST00000335244.4	-	9	1175	c.1046G>A	c.(1045-1047)gGc>gAc	p.G349D	SLC36A2_ENST00000521967.1_Missense_Mutation_p.G349D|SLC36A2_ENST00000450886.1_Missense_Mutation_p.G73D	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	349					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)	p.G349D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	GCACAGGATGCCGGCAATGTA	0.562																																						ENST00000335244.4																			1	Substitution - Missense(1)	p.G349D(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(1045-1047)gGc>gAc		solute carrier family 36 (proton/amino acid symporter), member 2							129.0	115.0	120.0					5																	150701741		2203	4300	6503	SO:0001583	missense	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150701741C>T	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1046G>A	5.37:g.150701741C>T	ENSP00000334223:p.Gly349Asp					SLC36A2_ENST00000450886.1_Missense_Mutation_p.G73D|SLC36A2_ENST00000521967.1_Missense_Mutation_p.G349D	p.G349D	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1175	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	349					Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	c.1046G>A	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	C	30	5.055331	0.93793	.	.	ENSG00000186335	ENST00000335244;ENST00000450886;ENST00000521967	T;T;T	0.02280	4.36;4.36;4.36	4.76	4.76	0.60689	.	0.155915	0.56097	D	0.000030	T	0.18841	0.0452	M	0.93106	3.38	0.80722	D	1	D;P	0.71674	0.998;0.868	D;P	0.79108	0.992;0.695	T	0.03910	-1.0993	10	0.62326	D	0.03	-29.6615	18.3127	0.90206	0.0:1.0:0.0:0.0	.	349;349	E5RJJ5;Q495M3	.;S36A2_HUMAN	D	349;73;349	ENSP00000334223:G349D;ENSP00000399479:G73D;ENSP00000430535:G349D	ENSP00000334223:G349D	G	-	2	0	SLC36A2	150681934	1.000000	0.71417	0.958000	0.39756	0.963000	0.63663	7.305000	0.78891	2.621000	0.88768	0.563000	0.77884	GGC		0.562	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			3	80	0	0	0	1	0	3	80				
TM4SF18	116441	broad.mit.edu	37	3	149040066	149040066	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr3:149040066C>A	ENST00000296059.2	-	5	833	c.568G>T	c.(568-570)Gga>Tga	p.G190*	RP11-206M11.7_ENST00000489011.1_RNA|TM4SF18_ENST00000470080.1_Nonsense_Mutation_p.G190*	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	190						integral component of membrane (GO:0016021)		p.G190*(1)		lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GAATAGCTTCCACACAGTATC	0.428																																						ENST00000296059.2																			1	Substitution - Nonsense(1)	p.G190*(1)	prostate(1)	lung(1)|ovary(1)|prostate(1)	3						c.(568-570)Gga>Tga		transmembrane 4 L six family member 18							104.0	96.0	99.0					3																	149040066		2203	4300	6503	SO:0001587	stop_gained	116441					integral to membrane		g.chr3:149040066C>A	BC014339	CCDS3142.1	3q25.1	2005-08-09			ENSG00000163762	ENSG00000163762			25181	protein-coding gene	gene with protein product						10975581	Standard	NM_001184723		Approved	L6D	uc021xfl.1	Q96CE8	OTTHUMG00000159582	ENST00000296059.2:c.568G>T	3.37:g.149040066C>A	ENSP00000296059:p.Gly190*					TM4SF18_ENST00000470080.1_Nonsense_Mutation_p.G190*|RP11-206M11.7_ENST00000489011.1_RNA	p.G190*	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		5	833	-			190					B2R8K0|D3DNH5	Nonsense_Mutation	SNP	ENST00000296059.2	37	c.568G>T	CCDS3142.1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179999	0.57800	.	.	ENSG00000163762	ENST00000296059;ENST00000470080	.	.	.	5.51	3.38	0.38709	.	0.345327	0.30879	N	0.008700	.	.	.	.	.	.	0.39433	D	0.967117	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-7.0216	11.2203	0.48851	0.0:0.8269:0.0:0.1731	.	.	.	.	X	190	.	ENSP00000296059:G190X	G	-	1	0	TM4SF18	150522756	1.000000	0.71417	0.996000	0.52242	0.431000	0.31685	1.987000	0.40687	1.323000	0.45263	0.650000	0.86243	GGA		0.428	TM4SF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356326.1	NM_138786		3	83	1	0	0.004672	1	0.00521526	3	83				
C6orf165	154313	broad.mit.edu	37	6	88138375	88138375	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr6:88138375C>G	ENST00000507897.1	+	9	1075	c.992C>G	c.(991-993)aCc>aGc	p.T331S	C6ORF165_ENST00000369562.4_Missense_Mutation_p.T331S			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	331								p.T331S(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ACTCTGTGGACCAGCTTGCAA	0.368																																						ENST00000507897.1																			2	Substitution - Missense(2)	p.T331S(2)	prostate(2)	NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(991-993)aCc>aGc		chromosome 6 open reading frame 165							192.0	178.0	183.0					6																	88138375		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88138375C>G	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.992C>G	6.37:g.88138375C>G	ENSP00000426769:p.Thr331Ser					C6ORF165_ENST00000369562.4_Missense_Mutation_p.T331S	p.T331S			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	9	1075	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	331					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.992C>G	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	C	0.890	-0.725849	0.03158	.	.	ENSG00000213204	ENST00000369562	T	0.29655	1.56	5.09	3.21	0.36854	.	0.400598	0.29602	N	0.011698	T	0.05731	0.0150	L	0.28192	0.835	0.19300	N	0.999972	B	0.15930	0.015	B	0.17433	0.018	T	0.42050	-0.9474	10	0.09590	T	0.72	.	7.821	0.29288	0.3054:0.6188:0.0:0.0758	.	331	Q8IYR0	CF165_HUMAN	S	331	ENSP00000358575:T331S	ENSP00000358575:T331S	T	+	2	0	C6orf165	88195094	0.879000	0.30193	0.737000	0.30932	0.194000	0.23727	1.560000	0.36331	0.437000	0.26423	0.650000	0.86243	ACC		0.368	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		35	346	0	0	0	1	0	35	346				
NSMAF	8439	broad.mit.edu	37	8	59515931	59515931	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr8:59515931C>T	ENST00000038176.3	-	13	1095	c.883G>A	c.(883-885)Gag>Aag	p.E295K	NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Missense_Mutation_p.E326K	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	295	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.				ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)	p.E295K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GCAGTGTGCTCCGCCACATGG	0.552																																						ENST00000038176.3																			1	Substitution - Missense(1)	p.E295K(1)	prostate(1)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38						c.(883-885)Gag>Aag		neutral sphingomyelinase (N-SMase) activation associated factor							115.0	90.0	98.0					8																	59515931		2203	4300	6503	SO:0001583	missense	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59515931C>T	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.883G>A	8.37:g.59515931C>T	ENSP00000038176:p.Glu295Lys					NSMAF_ENST00000427130.2_Missense_Mutation_p.E326K|NSMAF_ENST00000519858.1_5'UTR	p.E295K	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN			13	1095	-		all_lung(136;0.174)|Lung NSC(129;0.2)	295			BEACH.		B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	c.883G>A	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904363	0.92035	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	T;T	0.63744	-0.06;-0.06	5.93	5.06	0.68205	BEACH domain (2);	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	L	0.45422	1.42	0.51767	D	0.999937	D;P;D	0.76494	0.999;0.882;0.972	D;B;P	0.83275	0.996;0.218;0.724	T	0.71286	-0.4638	9	.	.	.	.	15.1295	0.72511	0.0:0.9326:0.0:0.0674	.	326;295;295	Q92636-2;A8K9G4;Q92636	.;.;FAN_HUMAN	K	295;326	ENSP00000038176:E295K;ENSP00000411012:E326K	.	E	-	1	0	NSMAF	59678485	1.000000	0.71417	0.897000	0.35233	0.955000	0.61496	6.062000	0.71155	1.529000	0.49120	0.655000	0.94253	GAG		0.552	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580		23	106	0	0	0	1	0	23	106				
MYH7	4625	broad.mit.edu	37	14	23901077	23901077	+	Splice_Site	SNP	C	C	T	rs397516242		TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr14:23901077C>T	ENST00000355349.3	-	7	694	c.532G>A	c.(532-534)Gga>Aga	p.G178R		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	178	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.G178R(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCGGATTCTCCGCTGTGAAGA	0.547																																						ENST00000355349.3																			1	Substitution - Missense(1)	p.G178R(1)	prostate(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.e7-1		myosin, heavy chain 7, cardiac muscle, beta							82.0	77.0	79.0					14																	23901077		2203	4300	6503	SO:0001630	splice_region_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23901077C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.531-1G>A	14.37:g.23901077C>T							p.G178_splice	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	7	694	-	all_cancers(95;2.54e-05)		178			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Splice_Site	SNP	ENST00000355349.3	37	c.530_splice	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141694	0.57044	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.99878	-7.43	3.12	3.12	0.35913	Myosin head, motor domain (3);	.	.	.	.	D	0.99900	0.9952	H	0.99225	4.475	0.80722	D	1	P	0.36438	0.553	P	0.46389	0.515	D	0.95223	0.8335	9	0.87932	D	0	.	14.7178	0.69284	0.0:1.0:0.0:0.0	.	178	P12883	MYH7_HUMAN	R	178	ENSP00000347507:G178R	ENSP00000347507:G178R	G	-	1	0	MYH7	22970917	1.000000	0.71417	0.992000	0.48379	0.427000	0.31564	7.405000	0.80007	1.754000	0.51921	0.305000	0.20034	GGA		0.547	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257	Missense_Mutation	22	92	0	0	0	1	0	22	92				
PLA2G4E	123745	broad.mit.edu	37	15	42302442	42302442	+	Missense_Mutation	SNP	G	G	A	rs374803299		TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr15:42302442G>A	ENST00000413860.2	-	1	3	c.4C>T	c.(4-6)Cgc>Tgc	p.R2C	PLA2G4E_ENST00000399518.3_Intron|CTD-2382E5.2_ENST00000552704.1_RNA			Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	0					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CACTTGGCGCGCATGATTTGA	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16520	0.0		0.0	False		,,,				2504	0.0					ENST00000413860.2																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16						c.(4-6)Cgc>Tgc		phospholipase A2, group IVE		G		1,3763		0,1,1881	78.0	85.0	83.0			-3.4	0.0	15	dbSNP_134	83	0,8210		0,0,4105	no	intron	PLA2G4E	NM_001206670.1		0,1,5986	AA,AG,GG		0.0,0.0266,0.0084			42302442	1,11973	1882	4105	5987	SO:0001583	missense	123745				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42302442G>A		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000413860.2:c.4C>T	15.37:g.42302442G>A	ENSP00000413897:p.Arg2Cys					PLA2G4E_ENST00000399518.3_Intron	p.R2C			Q3MJ16	PA24E_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)	1	3	-		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)	0					Q6ZSC0	Missense_Mutation	SNP	ENST00000413860.2	37	c.4C>T		.	.	.	.	.	.	.	.	.	.	G	4.868	0.161324	0.09287	2.66E-4	0.0	ENSG00000188089	ENST00000413860	T	0.01629	4.72	1.8	-3.36	0.04913	.	.	.	.	.	T	0.01320	0.0043	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49011	-0.8983	8	0.87932	D	0	.	0.2388	0.00190	0.3047:0.2046:0.2837:0.2071	.	2	C9JK77	.	C	2	ENSP00000413897:R2C	ENSP00000413897:R2C	R	-	1	0	PLA2G4E	40089734	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.542000	0.02196	-0.987000	0.03494	-1.614000	0.00798	CGC		0.507	PLA2G4E-201	KNOWN	basic	protein_coding	protein_coding		NM_198442		4	192	0	0	0	1	0	4	192				
SERPINB9	5272	broad.mit.edu	37	6	2896330	2896330	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr6:2896330G>A	ENST00000380698.4	-	3	352	c.263C>T	c.(262-264)aCg>aTg	p.T88M		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	88					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T88M(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				CCTGTTGGCCGTTCTCAGCAG	0.443																																						ENST00000380698.4																			1	Substitution - Missense(1)	p.T88M(1)	prostate(1)	breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15						c.(262-264)aCg>aTg		serpin peptidase inhibitor, clade B (ovalbumin), member 9							103.0	102.0	102.0					6																	2896330		2203	4300	6503	SO:0001583	missense	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2896330G>A	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.263C>T	6.37:g.2896330G>A	ENSP00000370074:p.Thr88Met						p.T88M	NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN			3	352	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	88					B2RBW3|Q5TD03	Missense_Mutation	SNP	ENST00000380698.4	37	c.263C>T	CCDS4478.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255467	0.22965	.	.	ENSG00000170542	ENST00000380698	D	0.84223	-1.82	4.21	-1.66	0.08265	Serpin domain (3);	0.499849	0.23863	N	0.043836	T	0.55226	0.1907	N	0.25992	0.78	0.09310	N	1	P	0.37864	0.61	B	0.35770	0.21	T	0.56631	-0.7947	10	0.33141	T	0.24	.	9.7461	0.40448	0.5192:0.0:0.4808:0.0	.	88	P50453	SPB9_HUMAN	M	88	ENSP00000370074:T88M	ENSP00000370074:T88M	T	-	2	0	SERPINB9	2841329	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	0.081000	0.14823	-0.246000	0.09611	-0.136000	0.14681	ACG		0.443	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1			6	206	0	0	0	1	0	6	206				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	52	0	0	0	1	0	3	52				
PARVB	29780	broad.mit.edu	37	22	44527372	44527372	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr22:44527372C>G	ENST00000338758.7	+	5	445	c.382C>G	c.(382-384)Ctg>Gtg	p.L128V	PARVB_ENST00000404989.1_Missense_Mutation_p.L91V|PARVB_ENST00000406477.3_Missense_Mutation_p.L161V	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	128	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)		p.L161V(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGCAGAAAAACTGGCAGGGTG	0.542																																						ENST00000338758.6																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(382-384)Ctg>Gtg		parvin, beta							78.0	66.0	70.0					22																	44527372		2203	4300	6503	SO:0001583	missense	29780				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	g.chr22:44527372C>G	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.382C>G	22.37:g.44527372C>G	ENSP00000342492:p.Leu128Val					PARVB_ENST00000406477.3_Missense_Mutation_p.L161V|PARVB_ENST00000404989.1_Missense_Mutation_p.L91V	p.L128V	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN			5	445	+		Ovarian(80;0.0246)|all_neural(38;0.0423)	128			CH 1.		B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Missense_Mutation	SNP	ENST00000338758.7	37	c.382C>G	CCDS14056.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682657	0.68157	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000444029;ENST00000404989	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	5.17	3.93	0.45458	Calponin homology domain (5);	0.000000	0.64402	D	0.000001	D	0.82342	0.5016	M	0.88640	2.97	0.80722	D	1	D;D;D;D	0.89917	1.0;0.988;1.0;1.0	D;D;D;D	0.91635	0.998;0.966;0.999;0.997	D	0.84824	0.0798	10	0.87932	D	0	-3.7055	10.6212	0.45481	0.0:0.8556:0.0:0.1444	.	128;91;128;161	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	V	161;128;126;91	ENSP00000384515:L161V;ENSP00000342492:L128V;ENSP00000393758:L126V;ENSP00000384353:L91V	ENSP00000342492:L128V	L	+	1	2	PARVB	42858705	0.973000	0.33851	0.923000	0.36655	0.944000	0.59088	2.275000	0.43399	2.407000	0.81776	0.655000	0.94253	CTG		0.542	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319518.2	NM_001003828		7	78	0	0	0	1	0	7	78				
CYP3A43	64816	broad.mit.edu	37	7	99441785	99441785	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr7:99441785C>A	ENST00000354829.2	+	4	341	c.238C>A	c.(238-240)Ccc>Acc	p.P80T	CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P80T|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P80T|CYP3A43_ENST00000417625.1_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	80			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)	p.P80T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Dexamethasone(DB01234)|Dolutegravir(DB08930)|Ethosuximide(DB00593)|Oxazepam(DB00842)|Phenelzine(DB00780)|Praziquantel(DB01058)|Rifampicin(DB01045)|Rifapentine(DB01201)|Testosterone(DB00624)|Troleandomycin(DB01361)|Zalcitabine(DB00943)	GGGGCAACAGCCCATGCTGGT	0.458																																						ENST00000354829.2																			1	Substitution - Missense(1)	p.P80T(1)	prostate(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(238-240)Ccc>Acc		cytochrome P450, family 3, subfamily A, polypeptide 43	Cetirizine(DB00341)|Doxycycline(DB00254)						88.0	78.0	81.0					7																	99441785		2203	4300	6503	SO:0001583	missense	64816				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr7:99441785C>A	AF319634	CCDS5675.1, CCDS5676.1, CCDS5677.1, CCDS64723.1	7q21.1	2007-12-14	2003-01-14		ENSG00000021461	ENSG00000021461		"""Cytochrome P450s"""	17450	protein-coding gene	gene with protein product		606534	"""cytochrome P450, subfamily IIIA, polypeptide 43"""			11160876, 11266076	Standard	NM_022820		Approved		uc003ury.1	Q9HB55	OTTHUMG00000156498	ENST00000354829.2:c.238C>A	7.37:g.99441785C>A	ENSP00000346887:p.Pro80Thr					CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P80T|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P80T	p.P80T	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN			4	341	+	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		80		YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).			Q495Y1|Q75MK2|Q75MK3|Q9HB52|Q9HB53|Q9HB54|Q9HB57	Missense_Mutation	SNP	ENST00000354829.2	37	c.238C>A	CCDS5676.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.416168	0.42918	.	.	ENSG00000021461	ENST00000354829;ENST00000312017;ENST00000222382	T;T;T	0.71103	-0.54;-0.54;-0.54	2.76	0.49	0.16861	.	0.124003	0.56097	D	0.000035	D	0.84853	0.5564	H	0.95224	3.64	0.41837	D	0.990107	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.997;0.999	T	0.82331	-0.0510	10	0.87932	D	0	.	5.2601	0.15567	0.0:0.6474:0.2113:0.1413	.	80;80;80	Q9HB55-3;Q75MK2;Q9HB55	.;.;CP343_HUMAN	T	80	ENSP00000346887:P80T;ENSP00000312110:P80T;ENSP00000222382:P80T	ENSP00000222382:P80T	P	+	1	0	CYP3A43	99279721	0.652000	0.27349	0.002000	0.10522	0.186000	0.23388	2.199000	0.42715	0.433000	0.26313	0.205000	0.17691	CCC		0.458	CYP3A43-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000344379.1			4	82	1	0	0.00909568	1	0.00992256	4	82				
GRID2	2895	broad.mit.edu	37	4	94006409	94006409	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr4:94006409A>G	ENST00000282020.4	+	3	766	c.508A>G	c.(508-510)Ata>Gta	p.I170V	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	170					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.I170V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GAAATTCATTATATTCTATGA	0.353																																						ENST00000282020.4																			1	Substitution - Missense(1)	p.I170V(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(508-510)Ata>Gta		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						96.0	98.0	97.0					4																	94006409		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94006409A>G	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.508A>G	4.37:g.94006409A>G	ENSP00000282020:p.Ile170Val					GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	p.I170V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	3	766	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	170					E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.508A>G	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	A	2.844	-0.239903	0.05944	.	.	ENSG00000152208	ENST00000282020	D	0.82167	-1.58	5.23	5.23	0.72850	Extracellular ligand-binding receptor (1);	0.052428	0.85682	D	0.000000	T	0.61887	0.2383	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.58335	-0.7654	10	0.05436	T	0.98	.	9.8859	0.41262	0.9233:0.0:0.0767:0.0	.	170;111	O43424;B4DYB9	GRID2_HUMAN;.	V	170	ENSP00000282020:I170V	ENSP00000282020:I170V	I	+	1	0	GRID2	94225432	0.972000	0.33761	1.000000	0.80357	0.996000	0.88848	2.475000	0.45162	2.112000	0.64535	0.533000	0.62120	ATA		0.353	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			4	347	0	0	0	1	0	4	347				
SQRDL	58472	broad.mit.edu	37	15	45965849	45965849	+	Silent	SNP	G	G	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr15:45965849G>T	ENST00000260324.7	+	5	890	c.504G>T	c.(502-504)tcG>tcT	p.S168S	RP11-96O20.4_ENST00000564080.1_Silent_p.S168S|SQRDL_ENST00000568606.1_Silent_p.S168S	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	168					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)	p.S168S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		AAATAGGGTCGAATTATTCAG	0.398																																						ENST00000260324.7																			1	Substitution - coding silent(1)	p.S168S(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11						c.(502-504)tcG>tcT		sulfide quinone reductase-like (yeast)							144.0	148.0	146.0					15																	45965849		2198	4297	6495	SO:0001819	synonymous_variant	58472						oxidoreductase activity	g.chr15:45965849G>T	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.504G>T	15.37:g.45965849G>T						RP11-96O20.4_ENST00000564080.1_Silent_p.S168S|SQRDL_ENST00000568606.1_Silent_p.S168S	p.S168S	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	5	890	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	168					Q9UQM8	Silent	SNP	ENST00000260324.7	37	c.504G>T	CCDS10127.1																																																																																				0.398	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			60	278	1	0	4.13886e-29	1	5.22803e-29	60	278				
AGK	55750	broad.mit.edu	37	7	141315346	141315346	+	Nonsense_Mutation	SNP	G	G	T	rs141323107		TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr7:141315346G>T	ENST00000355413.4	+	8	759	c.499G>T	c.(499-501)Gaa>Taa	p.E167*	AGK_ENST00000535825.1_Nonsense_Mutation_p.E164*|AGK_ENST00000473247.1_Nonsense_Mutation_p.E139*	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	167	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.E167*(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CCTCTTTGCCGAAAGTGGAAA	0.443																																						ENST00000355413.4																			2	Substitution - Nonsense(2)	p.E167*(2)	prostate(2)	breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17						c.(499-501)Gaa>Taa		acylglycerol kinase							165.0	163.0	164.0					7																	141315346		2203	4300	6503	SO:0001587	stop_gained	55750				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	g.chr7:141315346G>T	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.499G>T	7.37:g.141315346G>T	ENSP00000347581:p.Glu167*					AGK_ENST00000535825.1_Nonsense_Mutation_p.E164*|AGK_ENST00000473247.1_Nonsense_Mutation_p.E139*	p.E167*	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN			8	759	+	Melanoma(164;0.0171)		167			DAGKc.		Q75KN1|Q96GC3|Q9NP48	Nonsense_Mutation	SNP	ENST00000355413.4	37	c.499G>T	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218797	0.95104	.	.	ENSG00000006530	ENST00000355413;ENST00000473247;ENST00000535825	.	.	.	5.2	3.31	0.37934	.	0.397194	0.27792	N	0.017833	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	10.0876	0.42428	0.1779:0.0:0.8221:0.0	.	.	.	.	X	167;139;164	.	ENSP00000347581:E167X	E	+	1	0	AGK	140961815	0.886000	0.30341	0.481000	0.27354	0.957000	0.61999	1.178000	0.31981	0.623000	0.30267	0.591000	0.81541	GAA		0.443	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		64	323	1	0	7.75977e-34	1	1.00667e-33	64	323				
RTP5	285093	broad.mit.edu	37	2	242814788	242814788	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr2:242814788G>T	ENST00000343216.3	+	2	1109	c.1081G>T	c.(1081-1083)Gtg>Ttg	p.V361L		NM_173821.2	NP_776182.2												p.V361L(1)									CGATGGCCCTGTGGCCACTAA	0.622																																						ENST00000343216.3																			1	Substitution - Missense(1)	p.V361L(1)	lung(1)								c.(1081-1083)Gtg>Ttg		CXXC finger protein 11							30.0	34.0	32.0					2																	242814788		1980	4139	6119	SO:0001583	missense	285093					integral to membrane		g.chr2:242814788G>T																												ENST00000343216.3:c.1081G>T	2.37:g.242814788G>T	ENSP00000345374:p.Val361Leu						p.V361L	NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN			2	1109	+			361						Missense_Mutation	SNP	ENST00000343216.3	37	c.1081G>T	CCDS42843.1	.	.	.	.	.	.	.	.	.	.	.	7.638	0.680305	0.14907	.	.	ENSG00000188011	ENST00000343216	T	0.26223	1.75	2.77	-5.53	0.02552	.	.	.	.	.	T	0.08537	0.0212	N	0.08118	0	0.09310	N	1	B	0.26195	0.144	B	0.16289	0.015	T	0.21109	-1.0255	9	0.45353	T	0.12	-3.8835	1.1292	0.01742	0.3965:0.1472:0.3086:0.1477	.	361	Q14D33	CB085_HUMAN	L	361	ENSP00000345374:V361L	ENSP00000345374:V361L	V	+	1	0	C2orf85	242463461	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.777000	0.00775	-1.173000	0.02758	-0.390000	0.06520	GTG		0.622	CXXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322310.1			4	41	1	0	5.18039e-06	1	6.06485e-06	4	41				
CRLF3	51379	broad.mit.edu	37	17	29111372	29111372	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:29111372T>G	ENST00000324238.6	-	8	1286	c.1162A>C	c.(1162-1164)Act>Cct	p.T388P	CRLF3_ENST00000577725.1_5'Flank|CRLF3_ENST00000544695.1_Missense_Mutation_p.T272P|CTD-2349P21.10_ENST00000585212.1_RNA	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	388					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)		p.T388P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				GTTCCTAGAGTCACGGCTTCA	0.388																																					Pancreas(30;346 881 29244 33464 41299)	ENST00000324238.6																			1	Substitution - Missense(1)	p.T388P(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(1162-1164)Act>Cct		cytokine receptor-like factor 3							81.0	77.0	79.0					17																	29111372		2203	4300	6503	SO:0001583	missense	51379				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm		g.chr17:29111372T>G	AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.1162A>C	17.37:g.29111372T>G	ENSP00000318804:p.Thr388Pro					CRLF3_ENST00000544695.1_Missense_Mutation_p.T272P	p.T388P	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN			8	1286	-		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)	388					A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Missense_Mutation	SNP	ENST00000324238.6	37	c.1162A>C	CCDS32607.1	.	.	.	.	.	.	.	.	.	.	T	9.993	1.231321	0.22626	.	.	ENSG00000176390	ENST00000324238;ENST00000544695	T;T	0.64618	-0.11;-0.11	5.17	5.17	0.71159	.	0.384774	0.30820	N	0.008811	T	0.45357	0.1338	N	0.17474	0.49	0.39955	D	0.974584	B	0.11235	0.004	B	0.12156	0.007	T	0.40757	-0.9546	10	0.32370	T	0.25	-17.3918	12.1077	0.53821	0.0:0.0:0.1533:0.8467	.	388	Q8IUI8	CRLF3_HUMAN	P	388;272	ENSP00000318804:T388P;ENSP00000444188:T272P	ENSP00000318804:T388P	T	-	1	0	CRLF3	26135498	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	3.963000	0.56773	2.069000	0.61940	0.460000	0.39030	ACT		0.388	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444354.1			3	137	0	0	0	1	0	3	137				
JPH3	57338	broad.mit.edu	37	16	87678351	87678351	+	Silent	SNP	C	C	T	rs144950183	byFrequency	TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr16:87678351C>T	ENST00000284262.2	+	2	1112	c.870C>T	c.(868-870)ggC>ggT	p.G290G		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	290					calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)	p.G290G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CCTACGTGGGCGAGTGGAAGA	0.672																																						ENST00000284262.2																			1	Substitution - coding silent(1)	p.G290G(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(868-870)ggC>ggT		junctophilin 3		C		1,4395	2.1+/-5.4	0,1,2197	90.0	86.0	88.0		870	2.9	1.0	16	dbSNP_134	88	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	JPH3	NM_020655.2		0,6,6492	TT,TC,CC		0.0581,0.0227,0.0462		290/749	87678351	6,12990	2198	4300	6498	SO:0001819	synonymous_variant	57338				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	g.chr16:87678351C>T	AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.870C>T	16.37:g.87678351C>T							p.G290G	NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0287)	2	1112	+			290					D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Silent	SNP	ENST00000284262.2	37	c.870C>T	CCDS10962.1																																																																																				0.672	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			4	90	0	0	0	1	0	4	90				
CEP164	22897	broad.mit.edu	37	11	117282579	117282579	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr11:117282579G>A	ENST00000278935.3	+	32	4379	c.4232G>A	c.(4231-4233)gGc>gAc	p.G1411D	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1411					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACCTTTCAGGGCATAATTGAG	0.592																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(4231-4233)gGc>gAc		centrosomal protein 164kDa							67.0	66.0	66.0					11																	117282579		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117282579G>A	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.4232G>A	11.37:g.117282579G>A	ENSP00000278935:p.Gly1411Asp					CEP164_ENST00000533706.1_3'UTR	p.G1411D	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	32	4379	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1411					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.4232G>A	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851115	0.51270	.	.	ENSG00000110274	ENST00000278935	T	0.22336	1.96	5.27	2.34	0.29019	.	0.355664	0.24262	N	0.040061	T	0.12603	0.0306	N	0.21448	0.665	0.27582	N	0.949558	B;B	0.16802	0.019;0.019	B;B	0.18561	0.022;0.022	T	0.17623	-1.0363	10	0.34782	T	0.22	-0.0594	7.8702	0.29561	0.2659:0.0:0.734:0.0	.	1411;1406	Q9UPV0;Q9UPV0-2	CE164_HUMAN;.	D	1411	ENSP00000278935:G1411D	ENSP00000278935:G1411D	G	+	2	0	CEP164	116787789	1.000000	0.71417	0.328000	0.25416	0.388000	0.30384	3.150000	0.50662	0.588000	0.29660	0.655000	0.94253	GGC		0.592	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		4	128	0	0	0	1	0	4	128				
MIR509-1	574514	broad.mit.edu	37	X	146341191	146341191	+	RNA	SNP	C	C	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chrX:146341191C>T	ENST00000385265.1	-	0	94				MIR509-3_ENST00000390725.1_RNA|MIR509-2_ENST00000390724.1_RNA	NR_030236.1|NR_030586.1				microRNA 509-1																		TACCCACAGACGTACCAATCA	0.463																																						ENST00000390725.1																			0																				224.0	179.0	193.0					X																	146341191		1568	3582	5150			0							g.chrX:146341191C>T			Xq27.3	2011-09-12	2007-10-23	2008-12-18	ENSG00000208000	ENSG00000208000		"""ncRNAs / Micro RNAs"""	32146	non-coding RNA	RNA, micro		300875	"""microRNA 509"""	MIRN509, MIRN509-1			Standard	NR_030236		Approved	hsa-mir-509, hsa-mir-509-1	uc022cfy.1				X.37:g.146341191C>T								NR_030629.1						0	53	-									RNA	SNP	ENST00000385265.1	37																																																																																						0.463	MIR509-1-201	KNOWN	basic	miRNA	miRNA		NR_030236		81	126	0	0	0	1	0	81	126				
COIL	8161	broad.mit.edu	37	17	55028287	55028287	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:55028287G>A	ENST00000240316.4	-	2	350	c.316C>T	c.(316-318)Ctt>Ttt	p.L106F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	106						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)	p.L106F(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					GCTTTTCTAAGAGATAAATTA	0.378																																						ENST00000240316.4																			1	Substitution - Missense(1)	p.L106F(1)	prostate(1)	NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15						c.(316-318)Ctt>Ttt		coilin							70.0	74.0	73.0					17																	55028287		2201	4298	6499	SO:0001583	missense	8161					Cajal body|nucleolus	protein C-terminus binding	g.chr17:55028287G>A	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.316C>T	17.37:g.55028287G>A	ENSP00000240316:p.Leu106Phe						p.L106F	NM_004645.2	NP_004636.1	P38432	COIL_HUMAN			2	350	-	Breast(9;6.15e-08)		106					B2R931	Missense_Mutation	SNP	ENST00000240316.4	37	c.316C>T	CCDS11592.1	.	.	.	.	.	.	.	.	.	.	G	6.926	0.540574	0.13250	.	.	ENSG00000121058	ENST00000240316	T	0.41758	0.99	5.84	-0.966	0.10320	.	1.151300	0.06110	N	0.667056	T	0.19167	0.0460	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.12837	0.008	T	0.18147	-1.0346	10	0.32370	T	0.25	-1.0566	1.2869	0.02052	0.317:0.2474:0.3097:0.1259	.	106	P38432	COIL_HUMAN	F	106	ENSP00000240316:L106F	ENSP00000240316:L106F	L	-	1	0	COIL	52383286	0.014000	0.17966	0.038000	0.18304	0.038000	0.13279	0.223000	0.17719	0.069000	0.16605	-0.172000	0.13284	CTT		0.378	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440618.1			4	230	0	0	0	1	0	4	230				
MUC6	4588	broad.mit.edu	37	11	1019457	1019457	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr11:1019457G>A	ENST00000421673.2	-	30	3898	c.3848C>T	c.(3847-3849)aCa>aTa	p.T1283I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1283	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.T1283I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGCCCTGATGTGGCTTGTGG	0.642																																						ENST00000421673.2																			2	Substitution - Missense(2)	p.T1283I(2)	prostate(2)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3847-3849)aCa>aTa		mucin 6, oligomeric mucus/gel-forming							145.0	172.0	163.0					11																	1019457		2143	4237	6380	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1019457G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3848C>T	11.37:g.1019457G>A	ENSP00000406861:p.Thr1283Ile						p.T1283I	NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	30	3898	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1283			Pro-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.3848C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345561	0.41498	.	.	ENSG00000184956	ENST00000421673	T	0.20200	2.09	2.77	2.77	0.32553	.	.	.	.	.	T	0.31888	0.0811	L	0.34521	1.04	0.09310	N	1	D	0.76494	0.999	D	0.66084	0.941	T	0.08371	-1.0725	9	0.56958	D	0.05	.	11.7009	0.51571	0.0:0.0:1.0:0.0	.	1283	Q6W4X9	MUC6_HUMAN	I	1283	ENSP00000406861:T1283I	ENSP00000406861:T1283I	T	-	2	0	MUC6	1009457	0.997000	0.39634	0.008000	0.14137	0.202000	0.24057	4.538000	0.60650	1.491000	0.48482	0.305000	0.20034	ACA		0.642	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		5	188	0	0	0	1	0	5	188				
CDH23	64072	broad.mit.edu	37	10	73270958	73270958	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr10:73270958C>A	ENST00000224721.6	+	5	423	c.418C>A	c.(418-420)Cgc>Agc	p.R140S	CDH23_ENST00000461841.3_Missense_Mutation_p.R185S|CDH23_ENST00000299366.7_Missense_Mutation_p.R185S|CDH23_ENST00000398842.3_Missense_Mutation_p.R140S|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000398809.4_Missense_Mutation_p.R140S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	140	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.R140S(2)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTACAGCGTCCGCATCCCTGA	0.572																																						ENST00000224721.6																			2	Substitution - Missense(2)	p.R140S(2)	prostate(2)	NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(418-420)Cgc>Agc		cadherin-related 23							82.0	90.0	88.0					10																	73270958		1989	4166	6155	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73270958C>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.418C>A	10.37:g.73270958C>A	ENSP00000224721:p.Arg140Ser					CDH23_ENST00000398809.4_Missense_Mutation_p.R140S|CDH23_ENST00000299366.7_Missense_Mutation_p.R185S|CDH23_ENST00000398842.3_Missense_Mutation_p.R140S|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000461841.3_Missense_Mutation_p.R185S	p.R140S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			5	423	+			140			Cadherin 2.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.418C>A		.	.	.	.	.	.	.	.	.	.	C	15.43	2.832048	0.50845	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.01584	4.75;4.75	5.58	5.58	0.84498	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000002	T	0.03651	0.0104	N	0.12611	0.24	0.80722	D	1	D;B;D;D	0.76494	0.993;0.413;0.983;0.999	P;B;P;D	0.81914	0.884;0.264;0.633;0.995	T	0.66803	-0.5831	10	0.08179	T	0.78	.	17.7491	0.88429	0.0:1.0:0.0:0.0	.	140;140;140;140	A5D6V9;Q9H251;Q9H251-5;E7ESV7	.;CAD23_HUMAN;.;.	S	140;140;140;140;140;140;140;81	ENSP00000381789:R140S;ENSP00000381822:R140S	ENSP00000224721:R140S	R	+	1	0	CDH23	72940964	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	2.759000	0.47573	2.620000	0.88729	0.462000	0.41574	CGC		0.572	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		3	57	1	0	0.115264	1	0.120275	3	57				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	115	0	0	0	1	0	4	115				
MTSS1	9788	broad.mit.edu	37	8	125597387	125597387	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr8:125597387C>T	ENST00000518547.1	-	6	874	c.401G>A	c.(400-402)cGc>cAc	p.R134H	MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000378017.3_Missense_Mutation_p.R134H|MTSS1_ENST00000325064.5_Missense_Mutation_p.R134H	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	134	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.R134H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TATCTCTTGGCGGGCTTTCTT	0.363																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	ENST00000518547.1																			1	Substitution - Missense(1)	p.R134H(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(400-402)cGc>cAc		metastasis suppressor 1							170.0	166.0	167.0					8																	125597387		2203	4300	6503	SO:0001583	missense	9788				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	g.chr8:125597387C>T	AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.401G>A	8.37:g.125597387C>T	ENSP00000429064:p.Arg134His					MTSS1_ENST00000325064.5_Missense_Mutation_p.R134H|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000378017.3_Missense_Mutation_p.R134H	p.R134H	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		6	874	-	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		134			IMD.		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	c.401G>A	CCDS6353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.2|28.2	4.895653|4.895653	0.91962|0.91962	.|.	.|.	ENSG00000170873|ENSG00000170873	ENST00000522162|ENST00000378017;ENST00000518547;ENST00000325064	.|T;T;T	.|0.40476	.|1.05;1.12;1.03	5.31|5.31	5.31|5.31	0.75309|0.75309	.|IRSp53/MIM homology domain (IMD) (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69097|0.69097	0.3073|0.3073	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.986;1.0	.|D;P;D	.|0.91635	.|0.999;0.836;0.986	T|T	0.73633|0.73633	-0.3921|-0.3921	5|10	.|0.66056	.|D	.|0.02	-18.2404|-18.2404	18.6228|18.6228	0.91327|0.91327	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|134;134;134	.|A5YM41;O43312;O43312-4	.|.;MTSS1_HUMAN;.	T|H	129|134	.|ENSP00000367256:R134H;ENSP00000429064:R134H;ENSP00000322804:R134H	.|ENSP00000322804:R134H	A|R	-|-	1|2	0|0	MTSS1|MTSS1	125666568|125666568	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.061000|7.061000	0.76699|0.76699	2.487000|2.487000	0.83934|0.83934	0.555000|0.555000	0.69702|0.69702	GCC|CGC		0.363	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751		57	305	0	0	0	1	0	57	305				
ACACA	31	broad.mit.edu	37	17	35600381	35600381	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:35600381C>T	ENST00000394406.2	-	22	2916	c.2726G>A	c.(2725-2727)cGc>cAc	p.R909H	ACACA_ENST00000353139.5_Missense_Mutation_p.R946H|ACACA_ENST00000335166.5_Missense_Mutation_p.R831H|ACACA_ENST00000360679.3_Missense_Mutation_p.R851H	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	909					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.R851H(1)|p.R946H(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGGGGGAATGCGGCCAGACAC	0.473																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			2	Substitution - Missense(2)	p.R851H(1)|p.R946H(1)	prostate(2)	NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(2836-2838)cGc>cAc		acetyl-CoA carboxylase alpha	Biotin(DB00121)						213.0	203.0	206.0					17																	35600381		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35600381C>T	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.2726G>A	17.37:g.35600381C>T	ENSP00000377928:p.Arg909His					ACACA_ENST00000360679.3_Missense_Mutation_p.R851H|ACACA_ENST00000335166.5_Missense_Mutation_p.R831H|ACACA_ENST00000394406.2_Missense_Mutation_p.R909H	p.R946H	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			22	3318	-		Breast(25;0.00157)|Ovarian(249;0.15)	909					B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.2837G>A	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933724	0.92458	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.9	4.9	0.64082	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	D	0.83852	0.5344	M	0.92367	3.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	D	0.87409	0.2374	10	0.59425	D	0.04	-7.9292	17.246	0.87028	0.0:1.0:0.0:0.0	.	946;909;851	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	H	946;851;909;933;831	ENSP00000344789:R946H;ENSP00000353898:R851H;ENSP00000377928:R909H;ENSP00000335323:R831H	ENSP00000335323:R831H	R	-	2	0	ACACA	32674494	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	7.643000	0.83403	2.551000	0.86045	0.563000	0.77884	CGC		0.473	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		6	475	0	0	0	1	0	6	475				
ZNF438	220929	broad.mit.edu	37	10	31133925	31133925	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr10:31133925C>G	ENST00000361310.3	-	7	2781	c.2452G>C	c.(2452-2454)Gga>Cga	p.G818R	ZNF438_ENST00000413025.1_Missense_Mutation_p.G818R|ZNF438_ENST00000442986.1_Missense_Mutation_p.G818R|ZNF438_ENST00000375311.1_Missense_Mutation_p.G382R|ZNF438_ENST00000444692.2_Missense_Mutation_p.G808R|ZNF438_ENST00000436087.2_Missense_Mutation_p.G818R|ZNF438_ENST00000331737.6_Missense_Mutation_p.G808R|ZNF438_ENST00000538351.2_Missense_Mutation_p.G769R|ZNF438_ENST00000452305.1_Missense_Mutation_p.G808R			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	818					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G818R(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCGATCACTCCCTGGTTGGAG	0.542																																						ENST00000538351.1																			1	Substitution - Missense(1)	p.G818R(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2305-2307)Gga>Cga		zinc finger protein 438							181.0	182.0	182.0					10																	31133925		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31133925C>G	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.2452G>C	10.37:g.31133925C>G	ENSP00000354663:p.Gly818Arg					ZNF438_ENST00000436087.2_Missense_Mutation_p.G818R|ZNF438_ENST00000375311.1_Missense_Mutation_p.G382R|ZNF438_ENST00000361310.3_Missense_Mutation_p.G818R|ZNF438_ENST00000413025.1_Missense_Mutation_p.G818R|ZNF438_ENST00000444692.2_Missense_Mutation_p.G808R|ZNF438_ENST00000442986.1_Missense_Mutation_p.G818R|ZNF438_ENST00000452305.1_Missense_Mutation_p.G808R|ZNF438_ENST00000331737.6_Missense_Mutation_p.G808R	p.G769R	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN			8	3059	-		Prostate(175;0.0587)	818					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.2305G>C	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	C	31	5.092996	0.94149	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.35;2.43	5.5	5.5	0.81552	.	0.275531	0.42294	D	0.000725	T	0.42404	0.1201	M	0.65498	2.005	0.51233	D	0.999914	D;D	0.89917	1.0;1.0	D;D	0.71870	0.945;0.975	T	0.20174	-1.0283	10	0.87932	D	0	-21.3209	18.7617	0.91855	0.0:1.0:0.0:0.0	.	818;808	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	R	808;818;818;818;818;808;808;769;537;382	ENSP00000333571:G808R;ENSP00000354663:G818R;ENSP00000406934:G818R;ENSP00000412363:G818R;ENSP00000387546:G818R;ENSP00000413060:G808R;ENSP00000410898:G808R;ENSP00000445461:G769R;ENSP00000364460:G382R	ENSP00000333571:G808R	G	-	1	0	ZNF438	31173931	0.985000	0.35326	0.507000	0.27676	0.387000	0.30353	2.863000	0.48396	2.744000	0.94065	0.655000	0.94253	GGA		0.542	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		80	364	0	0	0	1	0	80	364				
GPATCH4	54865	broad.mit.edu	37	1	156568875	156568875	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr1:156568875G>T	ENST00000368232.4	-	0	96				GPATCH4_ENST00000334588.7_De_novo_Start_OutOfFrame|GPATCH4_ENST00000497287.1_5'Flank|GPATCH4_ENST00000438976.2_Intron	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4								poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACTCTCACCAGAGAAGAAGAG	0.448																																						ENST00000368232.4																			0				autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17								G patch domain containing 4							49.0	45.0	46.0					1																	156568875		2203	4300	6503			54865					intracellular	nucleic acid binding	g.chr1:156568875G>T	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000368232.4:c.-37C>A	1.37:g.156568875G>T						GPATCH4_ENST00000334588.7_De_novo_Start_OutOfFrame|GPATCH4_ENST00000438976.2_Intron		NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN			0	96	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)							Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Translation_Start_Site	SNP	ENST00000368232.4	37		CCDS1146.1																																																																																				0.448	GPATCH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000081029.2	NM_017725		3	71	1	0	1	1	1	3	71				
SDHAP1	255812	broad.mit.edu	37	3	195717077	195717078	+	RNA	INS	-	-	GCGCCAG	rs55821214|rs369994643		TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr3:195717077_195717078insGCGCCAG	ENST00000427841.1	-	0	72_73					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		GGCCAGCGCCAGCGCCAGGCGC	0.782																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195717077_195717078insGCGCCAG	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195717078_195717084dupGCGCCAG								NR_003264.2						0	72_73	-									RNA	INS	ENST00000427841.1	37																																																																																						0.782	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	4						3	4	---	---	---	---
BMP2K	55589	broad.mit.edu	37	4	79792164	79792166	+	In_Frame_Del	DEL	CAC	CAC	-	rs202184856|rs200441916	byFrequency	TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr4:79792164_79792166delCAC	ENST00000335016.5	+	11	1625_1627	c.1459_1461delCAC	c.(1459-1461)cacdel	p.H494del	BMP2K_ENST00000502871.1_In_Frame_Del_p.H494del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	494	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcagcagcagcaccaccaccacc	0.502																																						ENST00000335016.5																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						c.(1459-1461)del		BMP2 inducible kinase																																				SO:0001651	inframe_deletion	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792164_79792166delCAC	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1459_1461delCAC	4.37:g.79792173_79792175delCAC	ENSP00000334836:p.His494del					BMP2K_ENST00000502871.1_In_Frame_Del_p.H494del	p.H494del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN			11	1625_1627	+			494			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	In_Frame_Del	DEL	ENST00000335016.5	37	c.1459_1461delCAC	CCDS47083.1																																																																																				0.502	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		8	68						8	68	---	---	---	---
VWA7	80737	broad.mit.edu	37	6	31733214	31733215	+	IGR	INS	-	-	A	rs371376634|rs35298161|rs368029854	byFrequency	TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr6:31733214_31733215insA	ENST00000375688.4	-	0	2881				VWA7_ENST00000467576.1_5'Flank|SAPCD1-AS1_ENST00000419679.1_RNA			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7							extracellular region (GO:0005576)											aactacatctcaaaaaaaaaac	0.485																																						ENST00000419679.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr6:31733214_31733215insA		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132		6.37:g.31733224_31733224dupA														0	50	-								A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	RNA	INS	ENST00000375688.4	37		CCDS4721.2																																																																																				0.485	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		2	4						2	4	---	---	---	---
LOC105369984	105369984	broad.mit.edu	37	12	111837697	111837698	+	lincRNA	INS	-	-	AGAA			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr12:111837697_111837698insAGAA	ENST00000552663.1	+	0	141																											aagactctgtcAgaaagaaaga	0.515																																						ENST00000552663.1																			0																																																			0							g.chr12:111837697_111837698insAGAA																													12.37:g.111837702_111837705dupAGAA														0	141	+									RNA	INS	ENST00000552663.1	37																																																																																						0.515	RP3-473L9.4-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000404776.1			2	4						2	4	---	---	---	---
LINC00669	647946	broad.mit.edu	37	18	37248401	37248401	+	lincRNA	DEL	G	G	-	rs201994886		TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr18:37248401delG	ENST00000591629.1	-	0	282					NR_024391.1				long intergenic non-protein coding RNA 669																		aaggaaggaaggaaagaagga	0.463																																						ENST00000591629.1																			0																																																			0							g.chr18:37248401delG	AK090603, BG220862, DB038664		18q12.2-q12.3	2012-10-12				ENSG00000267374		"""Long non-coding RNAs"""	44332	non-coding RNA	RNA, long non-coding							Standard	NR_024391		Approved		uc002lak.1				18.37:g.37248401delG								NR_024391.1						0	282	-									RNA	DEL	ENST00000591629.1	37																																																																																						0.463	LINC00669-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000441462.1	NR_024391		2	4						2	4	---	---	---	---
