#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
RPE65	6121	broad.mit.edu	37	1	68904666	68904666	+	Missense_Mutation	SNP	T	T	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr1:68904666T>A	ENST00000262340.5	-	9	1010	c.957A>T	c.(955-957)gaA>gaT	p.E319D		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	319					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ACCCATTGTCTTCATAGGTGT	0.413																																						uc001dei.1																			0				central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						c.(955-957)gaA>gaT		Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.							269.0	265.0	266.0					1																	68904666		2203	4300	6503	SO:0001583	missense	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68904666T>A	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.957A>T	1.37:g.68904666T>A	ENSP00000262340:p.Glu319Asp						p.E319D	NM_000329	NP_000320	Q16518	RPE65_HUMAN			8	1011	-			319					A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	37	c.957A>T	CCDS643.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543259	0.65198	.	.	ENSG00000116745	ENST00000262340	D	0.97016	-4.21	4.87	3.74	0.42951	.	0.000000	0.85682	D	0.000000	D	0.97182	0.9079	M	0.86268	2.805	0.58432	D	0.999999	D	0.67145	0.996	D	0.75484	0.986	D	0.96823	0.9605	10	0.72032	D	0.01	-1.338	8.3694	0.32406	0.0:0.1756:0.0:0.8244	.	319	Q16518	RPE65_HUMAN	D	319	ENSP00000262340:E319D	ENSP00000262340:E319D	E	-	3	2	RPE65	68677254	1.000000	0.71417	0.996000	0.52242	0.949000	0.60115	0.916000	0.28651	0.719000	0.32188	-0.263000	0.10527	GAA		0.413	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329	
SLC39A1	27173	broad.mit.edu	37	1	153933124	153933124	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr1:153933124A>G	ENST00000368623.3	-	3	1184	c.425T>C	c.(424-426)cTg>cCg	p.L142P	CRTC2_ENST00000368633.1_5'Flank|SLC39A1_ENST00000310483.6_Missense_Mutation_p.L142P|CRTC2_ENST00000368630.3_5'Flank|SLC39A1_ENST00000368621.1_Missense_Mutation_p.L142P|CRTC2_ENST00000476883.1_5'Flank|SLC39A1_ENST00000537590.1_Missense_Mutation_p.L40P|SLC39A1_ENST00000461071.1_5'Flank|SLC39A1_ENST00000356205.4_Missense_Mutation_p.L142P			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	142					cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385)			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		TGTTTCCTCCAGAGGTGACGG	0.607																																						uc001fdl.3																			0				kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12						c.(424-426)cTg>cCg		Homo sapiens solute carrier family 39 (zinc transporter), member 1 (SLC39A1), mRNA.							78.0	69.0	72.0					1																	153933124		2203	4300	6503	SO:0001583	missense	27173					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity	g.chr1:153933124A>G	BC007886	CCDS1055.1, CCDS72920.1	1q21	2013-05-22		2002-02-15	ENSG00000143570	ENSG00000143570		"""Solute carriers"""	12876	protein-coding gene	gene with protein product		604740	"""zinc/iron regulated transporter-like"""	ZIRTL		10610721, 10681536	Standard	NM_014437		Approved	ZIP1	uc031ppi.1	Q9NY26	OTTHUMG00000037158	ENST00000368623.3:c.425T>C	1.37:g.153933124A>G	ENSP00000357612:p.Leu142Pro					CRTC2_uc021pab.1_5'Flank|SLC39A1_uc001fdi.3_Missense_Mutation_p.L142P|SLC39A1_uc001fdj.3_Missense_Mutation_p.L142P|SLC39A1_uc001fdk.3_Missense_Mutation_p.L142P|SLC39A1_uc010pee.2_Missense_Mutation_p.L40P	p.L142P	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)	4	891	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		142					B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380	Missense_Mutation	SNP	ENST00000368623.3	37	c.425T>C	CCDS1055.1	.	.	.	.	.	.	.	.	.	.	A	4.890	0.165482	0.09339	.	.	ENSG00000143570	ENST00000356205;ENST00000368623;ENST00000368621;ENST00000310483;ENST00000537590;ENST00000543075;ENST00000429040;ENST00000413622;ENST00000417348	T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.3	2.31	0.28768	.	0.426335	0.20229	N	0.096530	T	0.04679	0.0127	N	0.02539	-0.55	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36744	-0.9735	10	0.30078	T	0.28	-2.9839	3.005	0.06026	0.1983:0.541:0.1626:0.0982	.	40;142	B4DDY7;Q9NY26	.;S39A1_HUMAN	P	142;142;142;142;40;131;142;142;142	ENSP00000348535:L142P;ENSP00000357612:L142P;ENSP00000357610:L142P;ENSP00000309710:L142P;ENSP00000443632:L40P;ENSP00000392950:L142P;ENSP00000392229:L142P;ENSP00000407717:L142P	ENSP00000309710:L142P	L	-	2	0	SLC39A1	152199748	0.537000	0.26386	0.380000	0.26093	0.559000	0.35586	0.748000	0.26305	0.325000	0.23359	0.460000	0.39030	CTG		0.607	SLC39A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090284.1	NM_014437	
APBB1	322	broad.mit.edu	37	11	6432089	6432089	+	Missense_Mutation	SNP	A	A	C	rs150119080	byFrequency	TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr11:6432089A>C	ENST00000609360.1	-	2	588	c.489T>G	c.(487-489)gaT>gaG	p.D163E	APBB1_ENST00000389906.2_Missense_Mutation_p.D163E|APBB1_ENST00000299402.6_Missense_Mutation_p.D163E|APBB1_ENST00000311051.3_Missense_Mutation_p.D163E	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	163	Glu-rich.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		catcatcatcatcctcctcct	0.637													a|||	5	0.000998403	0.0008	0.0	5008	,	,		18325	0.001		0.002	False		,,,				2504	0.001				GBM(147;1810 2556 5672 39622)	uc001mdb.1																			0		p.E162K(1)|p.E162D(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(487-489)gaT>gaG		Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.		C	GLU/ASP,GLU/ASP	7,4395	9.9+/-24.2	0,7,2194	35.0	35.0	35.0		489,489	-10.0	0.9	11	dbSNP_134	35	30,8562	17.9+/-57.8	1,28,4267	no	missense,missense	APBB1	NM_001164.2,NM_145689.1	45,45	1,35,6461	CC,CA,AA		0.3492,0.159,0.2847	benign,benign	163/711,163/709	6432089	37,12957	2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432089A>C	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.489T>G	11.37:g.6432089A>C	ENSP00000477213:p.Asp163Glu					APBB1_uc001mdc.1_Missense_Mutation_p.D163E|APBB1_uc010rah.1_Intron	p.D163E	NM_001164	NP_001155	O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	1	589	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	163			Glu-rich.		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.489T>G		.	.	.	.	.	.	.	.	.	.	a	0.010	-1.789594	0.00623	0.00159	0.003492	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906	T;T;T	0.12774	2.65;2.65;2.65	5.0	-10.0	0.00425	.	0.778993	0.11213	N	0.587490	T	0.02193	0.0068	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33111	-0.9881	10	0.02654	T	1	-1.3744	0.6288	0.00791	0.1915:0.2414:0.2847:0.2824	.	163	O00213-2	.	E	163	ENSP00000299402:D163E;ENSP00000311912:D163E;ENSP00000374556:D163E	ENSP00000299402:D163E	D	-	3	2	APBB1	6388665	0.000000	0.05858	0.875000	0.34327	0.073000	0.16967	-3.791000	0.00365	-1.499000	0.01821	-1.540000	0.00911	GAT		0.637	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164	
MS4A6A	64231	broad.mit.edu	37	11	59947358	59947358	+	Silent	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr11:59947358G>A	ENST00000530839.1	-	4	720	c.228C>T	c.(226-228)acC>acT	p.T76T	MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000426738.2_Intron|MS4A6A_ENST00000529054.1_Silent_p.T104T|MS4A6A_ENST00000529906.1_5'UTR|MS4A6A_ENST00000528851.1_Silent_p.T76T|MS4A6A_ENST00000420732.2_Silent_p.T76T|MS4A6A_ENST00000412309.2_Silent_p.T104T|MS4A6A_ENST00000532169.1_Silent_p.T76T|MS4A6A_ENST00000323961.3_Silent_p.T76T	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	76						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAGTCACTTGGGTAAAATTTG	0.468																																						uc010rla.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(310-312)acC>acT		Homo sapiens membrane-spanning 4-domains, subfamily A, member 6A (MS4A6A), transcript variant 4, mRNA.							95.0	87.0	90.0					11																	59947358		2201	4295	6496	SO:0001819	synonymous_variant	64231					integral to membrane	receptor activity	g.chr11:59947358G>A	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.228C>T	11.37:g.59947358G>A						MS4A6A_uc001noq.3_Silent_p.T76T|MS4A6A_uc009ymv.3_Silent_p.T76T|MS4A6A_uc001not.3_Silent_p.T76T|MS4A6A_uc010rlb.2_Intron	p.T104T	NM_001247999	NP_001234928	Q9H2W1	M4A6A_HUMAN			3	785	-			76					A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Silent	SNP	ENST00000530839.1	37	c.312C>T	CCDS7981.1																																																																																				0.468	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1		
MMP13	4322	broad.mit.edu	37	11	102822797	102822797	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr11:102822797C>T	ENST00000260302.3	-	5	771	c.743G>A	c.(742-744)gGc>gAc	p.G248D	MMP13_ENST00000340273.4_Missense_Mutation_p.G248D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	248					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G248D(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GTGGCTTTTGCCGGTGTAGGT	0.448																																						uc001phl.3																			1	Substitution - Missense(1)	p.G248D(2)	kidney(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(742-744)gGc>gAc		Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.							248.0	239.0	242.0					11																	102822797		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102822797C>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.743G>A	11.37:g.102822797C>T	ENSP00000260302:p.Gly248Asp						p.G248D	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	4	772	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	248					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.743G>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	5.496	0.276438	0.10403	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.46819	0.86;0.86	5.59	4.68	0.58851	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.207964	0.52532	N	0.000079	T	0.16557	0.0398	N	0.01417	-0.88	0.44635	D	0.99761	B	0.02656	0.0	B	0.08055	0.003	T	0.20706	-1.0267	10	0.02654	T	1	.	10.717	0.46019	0.0:0.8549:0.0:0.1451	.	248	P45452	MMP13_HUMAN	D	248	ENSP00000260302:G248D;ENSP00000339672:G248D	ENSP00000260302:G248D	G	-	2	0	MMP13	102328007	0.817000	0.29147	1.000000	0.80357	0.983000	0.72400	1.516000	0.35856	1.479000	0.48272	0.655000	0.94253	GGC		0.448	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427	
USP28	57646	broad.mit.edu	37	11	113688486	113688486	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr11:113688486T>C	ENST00000003302.4	-	13	1425	c.1357A>G	c.(1357-1359)Agt>Ggt	p.S453G	USP28_ENST00000260188.5_Missense_Mutation_p.S453G|USP28_ENST00000537706.1_Missense_Mutation_p.S453G|RP11-667M19.10_ENST00000399123.2_RNA|USP28_ENST00000545540.1_Missense_Mutation_p.S328G|USP28_ENST00000544967.1_Missense_Mutation_p.S161G	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	453	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GGTTTTGTACTAGCAAATTCA	0.463																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.3																			0				breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1357-1359)Agt>Ggt		Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.							157.0	142.0	147.0					11																	113688486		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113688486T>C	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1357A>G	11.37:g.113688486T>C	ENSP00000003302:p.Ser453Gly					USP28_uc001pog.3_Missense_Mutation_p.S161G|USP28_uc010rwy.2_Missense_Mutation_p.S328G|USP28_uc001poi.3_Intron|USP28_uc001poj.3_Missense_Mutation_p.S453G	p.S453G	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	12	1390	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	453					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.1357A>G	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.851950	0.71719	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000537706	T;T;T;T;T	0.49720	1.37;1.37;0.77;1.38;1.78	5.48	5.48	0.80851	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.092076	0.85682	D	0.000000	T	0.51753	0.1693	M	0.76170	2.325	0.37894	D	0.930813	P;P;P;P	0.43542	0.507;0.81;0.763;0.649	B;B;B;B	0.43155	0.338;0.41;0.403;0.228	T	0.63161	-0.6699	10	0.62326	D	0.03	-20.3523	11.6313	0.51175	0.0:0.0707:0.0:0.9293	.	328;453;453;161	B4E3L3;Q6NZX9;Q96RU2;G3V1N5	.;.;UBP28_HUMAN;.	G	453;453;161;328;453	ENSP00000003302:S453G;ENSP00000260188:S453G;ENSP00000442431:S161G;ENSP00000444991:S328G;ENSP00000445743:S453G	ENSP00000003302:S453G	S	-	1	0	USP28	113193696	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.130000	0.57964	2.307000	0.77673	0.528000	0.53228	AGT		0.463	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		
CD163L1	283316	broad.mit.edu	37	12	7559406	7559406	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr12:7559406C>T	ENST00000313599.3	-	5	866	c.809G>A	c.(808-810)cGc>cAc	p.R270H	CD163L1_ENST00000416109.2_Missense_Mutation_p.R280H|CD163L1_ENST00000396630.1_Missense_Mutation_p.R270H			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	270	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCATACAGCGGTTAGTTCC	0.448																																						uc010sge.2																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(838-840)cGc>cAc		Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.							209.0	186.0	194.0					12																	7559406		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7559406C>T	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.809G>A	12.37:g.7559406C>T	ENSP00000315945:p.Arg270His					CD163L1_uc001qsy.3_Missense_Mutation_p.R270H	p.R280H	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			4	865	-			270			SRCR 3.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.839G>A	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331677	0.24167	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.36340	1.26;1.26;1.26	1.88	-1.44	0.08856	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.24044	0.0582	L	0.37697	1.125	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.09377	0.004;0.004	T	0.21008	-1.0258	9	0.42905	T	0.14	.	5.8061	0.18440	0.0:0.3986:0.0:0.6014	.	280;270	E7EVK4;Q9NR16	.;C163B_HUMAN	H	270;280;270	ENSP00000315945:R270H;ENSP00000393474:R280H;ENSP00000379871:R270H	ENSP00000315945:R270H	R	-	2	0	CD163L1	7450673	0.000000	0.05858	0.000000	0.03702	0.560000	0.35617	-4.189000	0.00277	-0.331000	0.08501	0.460000	0.39030	CGC		0.448	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
TRPV4	59341	broad.mit.edu	37	12	110236625	110236625	+	Missense_Mutation	SNP	G	G	A	rs267607145		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr12:110236625G>A	ENST00000418703.2	-	5	1040	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	TRPV4_ENST00000536838.1_Missense_Mutation_p.R282C|TRPV4_ENST00000346520.2_Missense_Mutation_p.R316C|TRPV4_ENST00000541794.1_Missense_Mutation_p.R269C|TRPV4_ENST00000544971.1_Missense_Mutation_p.R269C|TRPV4_ENST00000392719.2_Missense_Mutation_p.R269C|TRPV4_ENST00000261740.2_Missense_Mutation_p.R316C|TRPV4_ENST00000537083.1_Missense_Mutation_p.R316C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	316			R -> C (in CMT2C and SPSMA). {ECO:0000269|PubMed:20037587, ECO:0000269|PubMed:20037588}.|R -> H (in CMT2C; does not affect channel localization to plasma membrane; results in increased agonist-induced channel activity and increased basal intracellular calcium concentration; causes increased cell death). {ECO:0000269|PubMed:21288981}.		actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GAGTCCTGGCGCCGCATGTCC	0.612																																						uc001tpj.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(946-948)Cgc>Tgc		Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.							97.0	77.0	84.0					12																	110236625		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110236625G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.946C>T	12.37:g.110236625G>A	ENSP00000406191:p.Arg316Cys					TRPV4_uc001tpg.2_Missense_Mutation_p.R282C|TRPV4_uc021rdp.1_Missense_Mutation_p.R316C|TRPV4_uc001tph.2_Missense_Mutation_p.R269C|TRPV4_uc001tpi.2_Missense_Mutation_p.R269C|TRPV4_uc001tpk.2_Missense_Mutation_p.R316C	p.R316C	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			4	1041	-			316		R -> C (in CMT2C and SPSMA).			B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.946C>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688417	0.68271	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	T;T;T;T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	4.37	3.46	0.39613	Ankyrin repeat-containing domain (3);	0.122178	0.53938	D	0.000044	T	0.76241	0.3960	L	0.37800	1.135	0.44762	D	0.997761	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.987;0.998	D;D;D;P;P	0.87578	0.998;0.944;0.997;0.827;0.849	T	0.77683	-0.2496	10	0.59425	D	0.04	-18.2964	13.0325	0.58851	0.0:0.0:0.8376:0.1624	.	316;316;269;269;282	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	C	316;316;269;316;269;316;269;282	ENSP00000406191:R316C;ENSP00000261740:R316C;ENSP00000376480:R269C;ENSP00000319003:R316C;ENSP00000443611:R269C;ENSP00000442738:R316C;ENSP00000442167:R269C;ENSP00000444336:R282C	ENSP00000261740:R316C	R	-	1	0	TRPV4	108721008	1.000000	0.71417	0.999000	0.59377	0.794000	0.44872	2.803000	0.47924	1.167000	0.42706	0.655000	0.94253	CGC		0.612	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625	
AACS	65985	broad.mit.edu	37	12	125599073	125599073	+	Silent	SNP	C	C	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr12:125599073C>A	ENST00000316519.6	+	9	1172	c.966C>A	c.(964-966)acC>acA	p.T322T	AACS_ENST00000261686.6_Silent_p.T322T|AACS_ENST00000316543.10_5'UTR	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	322					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GCAACATGACCAGCAGTGACA	0.607																																						uc001uhc.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26						c.(964-966)acC>acA		Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.							112.0	87.0	95.0					12																	125599073		2203	4300	6503	SO:0001819	synonymous_variant	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125599073C>A	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.966C>A	12.37:g.125599073C>A						AACS_uc001uhd.3_Silent_p.T322T|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_5'UTR	p.T322T	NM_023928	NP_076417	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	8	1172	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		322					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Silent	SNP	ENST00000316519.6	37	c.966C>A	CCDS9263.1																																																																																				0.607	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928	
IPO5	3843	broad.mit.edu	37	13	98666352	98666352	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr13:98666352C>T	ENST00000490680.1	+	19	2274	c.2209C>T	c.(2209-2211)Cgt>Tgt	p.R737C	IPO5_ENST00000539640.1_Missense_Mutation_p.R612C|IPO5_ENST00000261574.5_Missense_Mutation_p.R755C			O00410	IPO5_HUMAN	importin 5	737					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TGCAAGAGTCCGTGGTCCTGA	0.438																																						uc001vne.3																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(2263-2265)Cgt>Tgt		Homo sapiens importin 5 (IPO5), mRNA.							148.0	143.0	145.0					13																	98666352		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98666352C>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2209C>T	13.37:g.98666352C>T	ENSP00000418393:p.Arg737Cys						p.R755C	NM_002271	NP_002262	O00410	IPO5_HUMAN			21	2443	+			737					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.2263C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.283094	0.95489	.	.	ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.80607	0.4655	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.66847	0.947	T	0.81348	-0.0973	10	0.87932	D	0	0.4589	19.9311	0.97118	0.0:1.0:0.0:0.0	.	755	O00410-3	.	C	755;737;737;612	ENSP00000261574:R755C;ENSP00000350219:R737C;ENSP00000418393:R737C;ENSP00000445126:R612C	ENSP00000261574:R755C	R	+	1	0	IPO5	97464353	1.000000	0.71417	0.439000	0.26833	0.996000	0.88848	7.554000	0.82212	2.721000	0.93114	0.655000	0.94253	CGT		0.438	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271	
F10	2159	broad.mit.edu	37	13	113793675	113793675	+	Silent	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr13:113793675C>T	ENST00000375559.3	+	4	299	c.261C>T	c.(259-261)ggC>ggT	p.G87G	F10_ENST00000375551.3_Silent_p.G87G|F10_ENST00000409306.1_Silent_p.G87G	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	87	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	TTGCAGATGGCGACCAGTGTG	0.502																																						uc001vsx.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18						c.(259-261)ggC>ggT		Homo sapiens coagulation factor X (F10), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						93.0	84.0	87.0					13																	113793675		2203	4300	6503	SO:0001819	synonymous_variant	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113793675C>T		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.261C>T	13.37:g.113793675C>T						F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Silent_p.G87G	p.G87G	NM_000504	NP_000495	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		3	318	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	87			EGF-like 1; calcium-binding (Potential).		Q14340	Silent	SNP	ENST00000375559.3	37	c.261C>T	CCDS9530.1																																																																																				0.502	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3		
SLC7A7	9056	broad.mit.edu	37	14	23245049	23245049	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr14:23245049C>T	ENST00000397532.3	-	6	1516	c.991G>A	c.(991-993)Gct>Act	p.A331T	SLC7A7_ENST00000555702.1_Missense_Mutation_p.A331T|SLC7A7_ENST00000285850.7_Missense_Mutation_p.A331T|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Missense_Mutation_p.A331T|SLC7A7_ENST00000397528.4_Missense_Mutation_p.A331T|SLC7A7_ENST00000554517.1_Missense_Mutation_p.A65T			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	331					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TACCTAGAAGCAGCCACAATG	0.428																																						uc001wgr.4																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20						c.(991-993)Gct>Act		Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 (SLC7A7), transcript variant 3, mRNA.							145.0	149.0	148.0					14																	23245049		2203	4300	6503	SO:0001583	missense	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23245049C>T	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.991G>A	14.37:g.23245049C>T	ENSP00000380666:p.Ala331Thr					SLC7A7_uc001wgs.4_Missense_Mutation_p.A331T|SLC7A7_uc001wgt.4_Missense_Mutation_p.A331T|SLC7A7_uc001wgu.4_Missense_Mutation_p.A331T|SLC7A7_uc001wgv.4_Missense_Mutation_p.A331T	p.A331T	NM_001126106	NP_001119578	Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	5	1129	-	all_cancers(95;8.44e-05)		331					B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	ENST00000397532.3	37	c.991G>A	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076719	0.94000	.	.	ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517	D;D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66;-2.66	6.08	6.08	0.98989	Amino acid permease domain (1);	0.106801	0.64402	D	0.000006	D	0.93641	0.7969	L	0.58302	1.8	0.58432	D	0.999994	P	0.46142	0.873	P	0.56088	0.791	D	0.93457	0.6807	10	0.87932	D	0	.	19.4349	0.94788	0.0:1.0:0.0:0.0	.	331	Q9UM01	YLAT1_HUMAN	T	331;331;331;304;331;331;65	ENSP00000285850:A331T;ENSP00000451881:A331T;ENSP00000380666:A331T;ENSP00000380663:A331T;ENSP00000380662:A331T;ENSP00000452083:A65T	ENSP00000285850:A331T	A	-	1	0	SLC7A7	22314889	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.828000	0.39111	2.894000	0.99253	0.655000	0.94253	GCT		0.428	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3		
NFKBIA	4792	broad.mit.edu	37	14	35871759	35871759	+	Missense_Mutation	SNP	C	C	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr14:35871759C>A	ENST00000216797.5	-	5	848	c.747G>T	c.(745-747)caG>caT	p.Q249H	NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557389.1_Missense_Mutation_p.Q159H|NFKBIA_ENST00000557140.1_Intron	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	249					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	GAGAATAGCCCTGGTAGGTAA	0.577																																						uc001wtf.4																			0				breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7						c.(745-747)caG>caT		Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha (NFKBIA), mRNA.							106.0	102.0	103.0					14																	35871759		2203	4300	6503	SO:0001583	missense	4792				anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding	g.chr14:35871759C>A		CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"""Ankyrin repeat domain containing"""	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.747G>T	14.37:g.35871759C>A	ENSP00000216797:p.Gln249His						p.Q249H	NM_020529	NP_065390	P25963	IKBA_HUMAN	Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	4	857	-	Breast(36;0.0484)|Hepatocellular(127;0.158)		249					B2R8L6	Missense_Mutation	SNP	ENST00000216797.5	37	c.747G>T	CCDS9656.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.406326	0.62288	.	.	ENSG00000100906	ENST00000216797;ENST00000557389	T;T	0.35973	1.28;1.28	5.32	-0.489	0.12052	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.38825	0.1055	L	0.57536	1.79	0.52099	D	0.999944	D	0.58268	0.982	P	0.50162	0.633	T	0.20405	-1.0276	9	0.37606	T	0.19	-2.3947	10.0673	0.42311	0.0:0.5647:0.0:0.4353	.	249	P25963	IKBA_HUMAN	H	249;159	ENSP00000216797:Q249H;ENSP00000450514:Q159H	ENSP00000216797:Q249H	Q	-	3	2	NFKBIA	34941510	0.970000	0.33590	0.991000	0.47740	0.991000	0.79684	0.102000	0.15272	-0.324000	0.08589	0.655000	0.94253	CAG		0.577	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276683.1	NM_020529	
TPSD1	23430	broad.mit.edu	37	16	1306641	1306641	+	Silent	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr16:1306641C>T	ENST00000211076.3	+	2	355	c.207C>T	c.(205-207)tcC>tcT	p.S69S	TPSD1_ENST00000397534.2_Silent_p.S62S|RP11-616M22.5_ENST00000566997.1_RNA	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	69	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCGGGGGCTCCCTCATCCACC	0.692																																						uc002clb.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20						c.(205-207)tcC>tcT		Homo sapiens tryptase delta 1 (TPSD1), mRNA.							54.0	66.0	62.0					16																	1306641		2199	4300	6499	SO:0001819	synonymous_variant	23430				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:1306641C>T	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511	ENST00000211076.3:c.207C>T	16.37:g.1306641C>T						TPSD1_uc010brm.1_Silent_p.S7S	p.S69S	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN			1	216	+		Hepatocellular(780;0.00369)	69			Peptidase S1.		O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	Silent	SNP	ENST00000211076.3	37	c.207C>T	CCDS10432.1																																																																																				0.692	TPSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250320.2		
DNAH3	55567	broad.mit.edu	37	16	20975342	20975342	+	Silent	SNP	G	G	A	rs142743875	byFrequency	TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr16:20975342G>A	ENST00000261383.3	-	53	9863	c.9864C>T	c.(9862-9864)gaC>gaT	p.D3288D	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3288					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCGAGTCTCGTCAATCTGCG	0.498													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		20718	0.0		0.0	False		,,,				2504	0.0					uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(9862-9864)gaC>gaT		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.		G		12,4390	19.1+/-41.9	0,12,2189	125.0	126.0	125.0		9864	-5.4	0.0	16	dbSNP_134	125	0,8600		0,0,4300	no	coding-synonymous	DNAH3	NM_017539.1		0,12,6489	AA,AG,GG		0.0,0.2726,0.0923		3288/4117	20975342	12,12990	2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975342G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9864C>T	16.37:g.20975342G>A						DNAH3_uc010vbd.2_Silent_p.D723D	p.D3288D	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	52	9864	-			3288					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.9864C>T	CCDS10594.1																																																																																				0.498	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
KIAA0556	23247	broad.mit.edu	37	16	27761189	27761189	+	Missense_Mutation	SNP	G	G	A	rs374130852		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr16:27761189G>A	ENST00000261588.4	+	16	2927	c.2908G>A	c.(2908-2910)Gtc>Atc	p.V970I		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	970						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TAAAATCCCCGTCTTGCCTTA	0.557																																						uc002dow.3																			0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(2908-2910)Gtc>Atc		Homo sapiens KIAA0556 (KIAA0556), mRNA.		G	ILE/VAL	0,4394		0,0,2197	41.0	41.0	41.0		2908	5.0	0.2	16		41	2,8598	2.2+/-6.3	0,2,4298	no	missense	KIAA0556	NM_015202.2	29	0,2,6495	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	970/1619	27761189	2,12992	2197	4300	6497	SO:0001583	missense	23247							g.chr16:27761189G>A	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2908G>A	16.37:g.27761189G>A	ENSP00000261588:p.Val970Ile						p.V970I	NM_015202	NP_056017	O60303	K0556_HUMAN			15	2932	+			970					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.2908G>A	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298580	0.60195	0.0	2.33E-4	ENSG00000047578	ENST00000261588	T	0.13538	2.58	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.29620	0.0739	L	0.54323	1.7	0.39599	D	0.969709	D	0.65815	0.995	P	0.62435	0.902	T	0.01541	-1.1329	10	0.52906	T	0.07	-22.0539	14.725	0.69339	0.0:0.1456:0.8544:0.0	.	970	O60303	K0556_HUMAN	I	970	ENSP00000261588:V970I	ENSP00000261588:V970I	V	+	1	0	KIAA0556	27668690	1.000000	0.71417	0.242000	0.24170	0.223000	0.24884	7.713000	0.84693	2.462000	0.83206	0.655000	0.94253	GTC		0.557	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202	
TRIM72	493829	broad.mit.edu	37	16	31235634	31235634	+	Missense_Mutation	SNP	C	C	T	rs375401025		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr16:31235634C>T	ENST00000322122.3	+	7	1276	c.992C>T	c.(991-993)gCg>gTg	p.A331V	RP11-388M20.9_ENST00000576745.1_lincRNA	NM_001008274.3	NP_001008275.2			tripartite motif containing 72, E3 ubiquitin protein ligase											breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						TTCGACAAGGCGGTGGCGGTG	0.731																																						uc002ebn.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						c.(991-993)gCg>gTg		Homo sapiens tripartite motif containing 72 (TRIM72), mRNA.							12.0	13.0	13.0					16																	31235634		2190	4276	6466	SO:0001583	missense	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31235634C>T	AK090695	CCDS32437.1	16p11.2	2014-02-10	2014-02-10					"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32671	protein-coding gene	gene with protein product	"""mitsugumin 53"""	613288	"""tripartite motif-containing 72"", ""tripartite motif containing 72"""			20399744, 23354051	Standard	NM_001008274		Approved	MG53	uc002ebn.2	Q6ZMU5		ENST00000322122.3:c.992C>T	16.37:g.31235634C>T	ENSP00000312675:p.Ala331Val					TRIM72_uc002ebp.1_5'Flank	p.A331V	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN			6	1276	+			331			B30.2/SPRY.			Missense_Mutation	SNP	ENST00000322122.3	37	c.992C>T	CCDS32437.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183015	0.57800	.	.	ENSG00000177238	ENST00000322122	T	0.10288	2.89	5.44	4.48	0.54585	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.386356	0.24894	N	0.034754	T	0.05502	0.0145	N	0.11756	0.17	0.36063	D	0.841591	B	0.29341	0.242	B	0.15870	0.014	T	0.41448	-0.9508	10	0.17369	T	0.5	.	12.5402	0.56165	0.0:0.9179:0.0:0.0821	.	331	Q6ZMU5	TRI72_HUMAN	V	331	ENSP00000312675:A331V	ENSP00000312675:A331V	A	+	2	0	TRIM72	31143135	0.468000	0.25839	0.950000	0.38849	0.892000	0.51952	0.995000	0.29706	2.570000	0.86706	0.491000	0.48974	GCG		0.731	TRIM72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433567.1	NM_001008274	
SMCR8	140775	broad.mit.edu	37	17	18219935	18219935	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr17:18219935G>A	ENST00000406438.3	+	1	1312	c.832G>A	c.(832-834)Gcc>Acc	p.A278T	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	278						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CCAGGATCAGGCCAGCCAGGC	0.517																																						uc002gsy.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(832-834)Gcc>Acc		Homo sapiens Smith-Magenis syndrome chromosome region, candidate 8 (SMCR8), mRNA.							77.0	63.0	68.0					17																	18219935		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18219935G>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.832G>A	17.37:g.18219935G>A	ENSP00000385025:p.Ala278Thr						p.A278T	NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN			0	1342	+			278					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.832G>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	G	1.150	-0.647069	0.03506	.	.	ENSG00000176994	ENST00000406438	T	0.22743	1.94	6.03	4.03	0.46877	.	0.620599	0.16795	N	0.199223	T	0.16642	0.0400	L	0.40543	1.245	0.41441	D	0.987921	P	0.43352	0.804	B	0.37387	0.248	T	0.03231	-1.1058	10	0.14252	T	0.57	-31.7773	13.9718	0.64245	0.0:0.1299:0.7625:0.1076	.	278	Q8TEV9	SMCR8_HUMAN	T	278	ENSP00000385025:A278T	ENSP00000385025:A278T	A	+	1	0	SMCR8	18160660	0.018000	0.18449	0.805000	0.32314	0.319000	0.28217	0.595000	0.24029	0.854000	0.35336	0.655000	0.94253	GCC		0.517	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775	
ENPP7	339221	broad.mit.edu	37	17	77710991	77710991	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr17:77710991G>A	ENST00000328313.5	+	4	1399	c.1178G>A	c.(1177-1179)cGg>cAg	p.R393Q		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCATGTGCCGGCTGCTGGGC	0.647																																						uc002jxa.3																			0		p.R393R(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(1177-1179)cGg>cAg		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.							59.0	50.0	53.0					17																	77710991		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77710991G>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.1178G>A	17.37:g.77710991G>A	ENSP00000332656:p.Arg393Gln						p.R393Q	NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		3	1198	+			393						Missense_Mutation	SNP	ENST00000328313.5	37	c.1178G>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	G	7.478	0.648047	0.14516	.	.	ENSG00000182156	ENST00000328313	T	0.74842	-0.88	3.07	1.85	0.25348	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.824992	0.10969	N	0.614092	T	0.56277	0.1974	N	0.24115	0.695	0.23572	N	0.997382	B	0.06786	0.001	B	0.06405	0.002	T	0.35674	-0.9779	10	0.14252	T	0.57	-10.5339	8.055	0.30600	0.8969:0.0:0.1031:0.0	.	393	Q6UWV6	ENPP7_HUMAN	Q	393	ENSP00000332656:R393Q	ENSP00000332656:R393Q	R	+	2	0	ENPP7	75325586	0.002000	0.14202	0.684000	0.30055	0.291000	0.27294	1.947000	0.40293	0.390000	0.25115	-0.459000	0.05422	CGG		0.647	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543	
SLC38A10	124565	broad.mit.edu	37	17	79226299	79226302	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr17:79226299_79226302delTCTT	ENST00000374759.3	-	13	2021_2024	c.1638_1641delAAGA	c.(1636-1641)gaaagafs	p.ER546fs	SLC38A10_ENST00000288439.5_Frame_Shift_Del_p.ER546fs	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	546					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTTGTTTCTCTCTTTCTGAGTCGG	0.618																																						uc002jzz.1																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1636-1641)gaaagafs		Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79226299_79226302delTCTT	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1638_1641delAAGA	17.37:g.79226299_79226302delTCTT	ENSP00000363891:p.Glu546fs					SLC38A10_uc002jzy.1_Frame_Shift_Del_p.E464fs|SLC38A10_uc002kab.3_Frame_Shift_Del_p.E546fs	p.E546fs	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		12	2013_2016	-	all_neural(118;0.0804)|Melanoma(429;0.242)		546					Q6ZRC5|Q8NA99|Q96C66	Frame_Shift_Del	DEL	ENST00000374759.3	37	c.1638_1641delAAGA	CCDS42397.1																																																																																				0.618	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570	
DUS1L	64118	broad.mit.edu	37	17	80020801	80020801	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr17:80020801C>T	ENST00000354321.7	-	4	931	c.446G>A	c.(445-447)cGt>cAt	p.R149H	DUS1L_ENST00000306796.5_Missense_Mutation_p.R149H			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	149							flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CGGGAAGACACGGATTTTGCA	0.602																																						uc002kdq.3																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6						c.(445-447)cGt>cAt		Homo sapiens dihydrouridine synthase 1-like (S. cerevisiae) (DUS1L), mRNA.							65.0	63.0	64.0					17																	80020801		2202	4300	6502	SO:0001583	missense	64118				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr17:80020801C>T		CCDS32775.1	17q25.3	2005-08-09				ENSG00000169718			30086	protein-coding gene	gene with protein product						12477932	Standard	NM_022156		Approved	PP3111, DUS1	uc002kdr.4	Q6P1R4		ENST00000354321.7:c.446G>A	17.37:g.80020801C>T	ENSP00000346280:p.Arg149His					DUS1L_uc002kdp.3_Missense_Mutation_p.R18H|DUS1L_uc002kdr.3_Missense_Mutation_p.R149H|DUS1L_uc010wvi.1_Missense_Mutation_p.R132H	p.R149H	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		3	865	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		149					A6NHV4|Q96AI3	Missense_Mutation	SNP	ENST00000354321.7	37	c.446G>A	CCDS32775.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274227	0.59649	.	.	ENSG00000169718	ENST00000354321;ENST00000306796;ENST00000542088;ENST00000538833	T;T;T	0.49432	0.78;0.78;0.78	3.61	3.61	0.41365	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	T	0.81413	0.4817	H	0.99225	4.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.987;0.999;0.998	D	0.89996	0.4111	10	0.87932	D	0	-13.6386	15.4443	0.75216	0.0:1.0:0.0:0.0	.	22;149;18	B4DPG7;Q6P1R4;Q9BTJ3	.;DUS1L_HUMAN;.	H	149;149;22;17	ENSP00000346280:R149H;ENSP00000303515:R149H;ENSP00000445110:R17H	ENSP00000303515:R149H	R	-	2	0	DUS1L	77614090	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.219000	0.78000	1.851000	0.53745	0.591000	0.81541	CGT		0.602	DUS1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442347.1	NM_022156	
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					uc010dln.3																			2	Substitution - Missense(2)	p.K507E(4)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu					POTEC_uc010xaj.2_Non-coding_Transcript	p.K507E	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			9	1973	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269	
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						uc010dln.3																			12	Substitution - Missense(12)	p.R477Q(24)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln					POTEC_uc010xaj.2_Non-coding_Transcript	p.R477Q	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			9	1884	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269	
ANKRD30B	374860	broad.mit.edu	37	18	14763986	14763986	+	Missense_Mutation	SNP	C	C	G	rs535080976		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr18:14763986C>G	ENST00000358984.4	+	7	1302	c.1122C>G	c.(1120-1122)tgC>tgG	p.C374W	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.C374W|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	374										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGACTGAATGCGTGGCAGGAG	0.363																																						uc010dlo.2																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1120-1122)tgC>tgG		Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.							42.0	36.0	38.0					18																	14763986		692	1591	2283	SO:0001583	missense	374860							g.chr18:14763986C>G	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1122C>G	18.37:g.14763986C>G	ENSP00000351875:p.Cys374Trp					ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Missense_Mutation_p.C374W	p.C374W	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			6	1302	+			374					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1122C>G	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	6.399	0.441803	0.12164	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.51817	0.69;0.76	0.217	0.217	0.15264	.	.	.	.	.	T	0.55465	0.1922	L	0.47716	1.5	0.09310	N	1	D	0.67145	0.996	D	0.69824	0.966	T	0.42783	-0.9431	8	0.59425	D	0.04	.	.	.	.	.	374	F8WAG3	.	W	374	ENSP00000351875:C374W;ENSP00000399031:C374W	ENSP00000351875:C374W	C	+	3	2	ANKRD30B	14753986	0.003000	0.15002	0.021000	0.16686	0.022000	0.10575	-0.795000	0.04580	0.292000	0.22492	0.297000	0.19635	TGC		0.363	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029	
DSEL	92126	broad.mit.edu	37	18	65181103	65181103	+	Missense_Mutation	SNP	T	T	C			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr18:65181103T>C	ENST00000310045.7	-	2	2246	c.773A>G	c.(772-774)aAt>aGt	p.N258S	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	248					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTTCCATATATTTGCTTTAGA	0.418																																						uc002lke.1																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(772-774)aAt>aGt		Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.							114.0	110.0	112.0					18																	65181103		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65181103T>C	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.773A>G	18.37:g.65181103T>C	ENSP00000310565:p.Asn258Ser					LOC643542_uc021ulh.1_5'Flank|DSEL_uc021ulg.1_Missense_Mutation_p.N258S	p.N258S	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			1	1997	-		Esophageal squamous(42;0.129)	248					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.773A>G	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	T	6.829	0.522111	0.13066	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.22539	1.95	4.95	2.29	0.28610	.	0.391586	0.26258	U	0.025409	T	0.14098	0.0341	L	0.36672	1.1	0.09310	N	1	B	0.17038	0.02	B	0.14578	0.011	T	0.29941	-0.9995	10	0.09338	T	0.73	.	11.4285	0.50025	0.0:0.0:0.2862:0.7138	.	248	Q8IZU8	DSEL_HUMAN	S	258;248	ENSP00000310565:N258S	ENSP00000310565:N258S	N	-	2	0	DSEL	63332083	0.988000	0.35896	0.094000	0.20943	0.940000	0.58332	2.965000	0.49200	0.819000	0.34492	0.454000	0.30748	AAT		0.418	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160	
KLK15	55554	broad.mit.edu	37	19	51330985	51330985	+	Missense_Mutation	SNP	G	G	A	rs140896741	byFrequency	TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr19:51330985G>A	ENST00000598239.1	-	2	160	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	AC011523.2_ENST00000598079.1_RNA|KLK15_ENST00000301421.2_Missense_Mutation_p.R44C|KLK15_ENST00000326856.4_Missense_Mutation_p.R43C|KLK15_ENST00000416184.1_Missense_Mutation_p.R44C|KLK15_ENST00000596931.1_Missense_Mutation_p.R43C	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	44	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAGTTAAAGCGTCCACGCTCG	0.612																																					Pancreas(140;10 2513 7143 9246)	uc002ptl.3																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(130-132)Cgc>Tgc		Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	98.0	72.0	81.0		130,130,130	3.6	0.0	19	dbSNP_134	81	3,8587	3.0+/-9.4	0,3,4292	yes	missense,missense,missense	KLK15	NM_017509.2,NM_138563.1,NM_138564.1	180,180,180	0,3,6495	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	44/257,44/162,44/172	51330985	3,12993	2203	4295	6498	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330985G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.130C>T	19.37:g.51330985G>A	ENSP00000469315:p.Arg44Cys					KLK15_uc002ptm.3_Missense_Mutation_p.R44C|KLK15_uc002ptn.3_Missense_Mutation_p.R44C|KLK15_uc002pto.3_Missense_Mutation_p.R43C|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Missense_Mutation_p.R43C|KLK15_uc010eod.3_Non-coding_Transcript	p.R44C	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	1	161	-		all_neural(266;0.057)	44			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.130C>T	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252707	0.59212	0.0	3.49E-4	ENSG00000174562	ENST00000326856;ENST00000416184;ENST00000301421;ENST00000544946	D;D	0.89196	-2.48;-2.48	4.66	3.62	0.41486	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.43416	D	0.000569	D	0.91981	0.7460	M	0.66506	2.035	0.43517	D	0.995781	D;D;B;D	0.89917	0.962;1.0;0.383;1.0	B;D;B;D	0.79784	0.236;0.959;0.167;0.993	D	0.91211	0.4999	10	0.66056	D	0.02	.	7.3009	0.26420	0.1977:0.0:0.8023:0.0	.	44;43;44;44	Q6UBM2;Q6ISI0;Q9H2R5-4;Q9H2R5	.;.;.;KLK15_HUMAN	C	44	ENSP00000415136:R44C;ENSP00000301421:R44C	ENSP00000301421:R44C	R	-	1	0	KLK15	56022797	1.000000	0.71417	0.017000	0.16124	0.815000	0.46073	4.427000	0.59888	1.324000	0.45282	0.561000	0.74099	CGC		0.612	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509	
NRXN1	9378	broad.mit.edu	37	2	50847197	50847197	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:50847197G>A	ENST00000406316.2	-	8	2759	c.1283C>T	c.(1282-1284)tCa>tTa	p.S428L	NRXN1_ENST00000406859.3_Missense_Mutation_p.S428L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.S420L|NRXN1_ENST00000402717.3_Missense_Mutation_p.S420L|NRXN1_ENST00000404971.1_Missense_Mutation_p.S468L|NRXN1_ENST00000401669.2_Missense_Mutation_p.S428L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	428	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTGACTGGTGACCCTGGAAG	0.463																																						uc021vhh.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(1282-1284)tCa>tTa		Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.							63.0	63.0	63.0					2																	50847197		1970	4178	6148	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50847197G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1283C>T	2.37:g.50847197G>A	ENSP00000384311:p.Ser428Leu					NRXN1_uc002rxb.4_Missense_Mutation_p.S100L|NRXN1_uc021vhg.1_Missense_Mutation_p.S468L|NRXN1_uc021vhi.1_Missense_Mutation_p.S464L|NRXN1_uc021vhj.1_Missense_Mutation_p.S424L|NRXN1_uc002rxc.1_Non-coding_Transcript	p.S428L	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	2204	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	428			Laminin G-like 2.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1283C>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935636	0.73442	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	L	0.35249	1.045	0.58432	D	0.999992	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.91635	0.997;0.956;0.999	T	0.75107	-0.3434	10	0.13108	T	0.6	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	468;428;420	Q9ULB1-3;F8WB18;A7E294	.;.;.	L	468;428;420;428;469;420;428	ENSP00000385142:S468L;ENSP00000384311:S428L;ENSP00000434015:S420L;ENSP00000385017:S428L;ENSP00000385434:S420L;ENSP00000385681:S428L	ENSP00000385017:S428L	S	-	2	0	NRXN1	50700701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	TCA		0.463	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
EIF2AK3	9451	broad.mit.edu	37	2	88870441	88870441	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:88870441G>A	ENST00000303236.3	-	14	3237	c.2936C>T	c.(2935-2937)gCc>gTc	p.A979V	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.A828V|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	979	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						TGTGTGTCTGGCATAAGCTGG	0.488																																					GBM(138;671 1851 16235 39058 45249)	uc002stc.4																			0				ovary(3)	3						c.(2935-2937)gCc>gTc		Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.							262.0	227.0	239.0					2																	88870441		2203	4300	6503	SO:0001583	missense	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88870441G>A	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.2936C>T	2.37:g.88870441G>A	ENSP00000307235:p.Ala979Val						p.A979V	NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN			13	3238	-			979			Protein kinase.		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Missense_Mutation	SNP	ENST00000303236.3	37	c.2936C>T	CCDS33241.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259441	0.95368	.	.	ENSG00000172071	ENST00000419748;ENST00000303236;ENST00000535951;ENST00000415570	T;T;T	0.65732	-0.17;-0.17;-0.17	5.9	5.9	0.94986	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052236	0.85682	D	0.000000	T	0.48750	0.1517	N	0.10685	0.025	0.80722	D	1	P	0.44521	0.837	P	0.44673	0.457	T	0.54892	-0.8225	10	0.48119	T	0.1	-19.7645	15.8343	0.78787	0.0:0.0:0.8637:0.1363	.	979	Q9NZJ5	E2AK3_HUMAN	V	828;979;828;858	ENSP00000408325:A828V;ENSP00000307235:A979V;ENSP00000412076:A858V	ENSP00000307235:A979V	A	-	2	0	EIF2AK3	88651556	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	6.599000	0.74127	2.800000	0.96347	0.455000	0.32223	GCC		0.488	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2	NM_004836	
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																						uc010yva.2																			13	Substitution - Missense(13)	p.T998S(13)	kidney(6)|endometrium(4)|prostate(3)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2992-2994)Aca>Tca		Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.							37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248							g.chr2:97869931A>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser					ANKRD36_uc002sxp.3_Non-coding_Transcript	p.T998S	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			49	3236	+			998					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2992A>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5		
COL5A2	1290	broad.mit.edu	37	2	189918184	189918184	+	Missense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:189918184C>T	ENST00000374866.3	-	38	2793	c.2519G>A	c.(2518-2520)gGg>gAg	p.G840E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	840					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCAGTTGGCCCATTTTCACC	0.343																																						uc002uqk.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(2518-2520)gGg>gAg		Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.							55.0	57.0	57.0					2																	189918184		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189918184C>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.2519G>A	2.37:g.189918184C>T	ENSP00000364000:p.Gly840Glu					COL5A2_uc010frx.3_Missense_Mutation_p.G416E	p.G840E	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		37	2794	-			840					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.2519G>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142671	0.77888	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.99619	-6.28	5.86	5.86	0.93980	.	0.000000	0.56097	D	0.000040	D	0.99857	0.9933	H	0.99286	4.5	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.97110	0.999;1.0	D	0.96597	0.9442	9	.	.	.	.	20.1951	0.98241	0.0:1.0:0.0:0.0	.	480;840	Q5PR22;P05997	.;CO5A2_HUMAN	E	840;480	ENSP00000364000:G840E	.	G	-	2	0	COL5A2	189626429	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.449000	0.80643	2.780000	0.95670	0.585000	0.79938	GGG		0.343	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	
GLS	2744	broad.mit.edu	37	2	191769831	191769831	+	Missense_Mutation	SNP	A	A	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:191769831A>T	ENST00000320717.3	+	6	1175	c.917A>T	c.(916-918)cAt>cTt	p.H306L	GLS_ENST00000338435.4_Missense_Mutation_p.H306L	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	306					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	GAATATGTGCATCGATATGTT	0.348																																						uc002usf.2																			0		p.V305A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16						c.(916-918)cAt>cTt		Homo sapiens glutaminase (GLS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						139.0	137.0	138.0					2																	191769831		2203	4300	6503	SO:0001583	missense	2744				cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	g.chr2:191769831A>T	AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.917A>T	2.37:g.191769831A>T	ENSP00000317379:p.His306Leu					GLS_uc002use.2_Missense_Mutation_p.H306L	p.H306L	NM_014905	NP_055720	O94925	GLSK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		5	1181	+			306					Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	37	c.917A>T	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.756662	0.89843	.	.	ENSG00000115419	ENST00000320717;ENST00000338435	T;T	0.39787	1.06;1.06	5.74	5.74	0.90152	Beta-lactamase/transpeptidase-like (1);	0.000000	0.85682	D	0.000000	T	0.60405	0.2266	L	0.54965	1.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57860	-0.7738	10	0.40728	T	0.16	-21.0904	16.3785	0.83418	1.0:0.0:0.0:0.0	.	306;306	O94925;O94925-3	GLSK_HUMAN;.	L	306	ENSP00000317379:H306L;ENSP00000340689:H306L	ENSP00000317379:H306L	H	+	2	0	GLS	191478076	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.287000	0.95975	2.323000	0.78572	0.529000	0.55759	CAT		0.348	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2		
CPS1	1373	broad.mit.edu	37	2	211441119	211441119	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:211441119A>G	ENST00000233072.5	+	3	482	c.286A>G	c.(286-288)Atg>Gtg	p.M96V	CPS1_ENST00000430249.2_Missense_Mutation_p.M102V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	96	Anthranilate phosphoribosyltransferase homolog.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GATTCTCACAATGGCCAACCC	0.408																																						uc010fur.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(304-306)Atg>Gtg		Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							187.0	170.0	176.0					2																	211441119		2203	4300	6503	SO:0001583	missense	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211441119A>G	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.286A>G	2.37:g.211441119A>G	ENSP00000233072:p.Met96Val					CPS1_uc002vee.4_Missense_Mutation_p.M96V	p.M102V	NM_001122633	NP_001116105	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	3	386	+			96			Anthranilate phosphoribosyltransferase homolog.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Missense_Mutation	SNP	ENST00000233072.5	37	c.304A>G	CCDS2393.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.360033	0.41801	.	.	ENSG00000021826	ENST00000417946;ENST00000518043;ENST00000523702;ENST00000430249;ENST00000539150;ENST00000233072;ENST00000536125	D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33	5.96	5.96	0.96718	Carbamoyl-phosphate synthase, small subunit, N-terminal (3);	0.048598	0.85682	D	0.000000	D	0.90352	0.6981	L	0.48362	1.52	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.11329	0.006;0.006	D	0.86458	0.1777	10	0.49607	T	0.09	-2.227	12.3002	0.54870	0.7529:0.2471:0.0:0.0	.	106;96	Q59HF8;P31327	.;CPSM_HUMAN	V	96;96;102;102;104;96;96	ENSP00000388496:M96V;ENSP00000430697:M96V;ENSP00000430644:M102V;ENSP00000402608:M102V;ENSP00000233072:M96V	ENSP00000233072:M96V	M	+	1	0	CPS1	211149364	0.997000	0.39634	1.000000	0.80357	0.960000	0.62799	3.839000	0.55835	2.284000	0.76573	0.528000	0.53228	ATG		0.408	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		
RRP1B	23076	broad.mit.edu	37	21	45113183	45113183	+	Silent	SNP	A	A	C			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr21:45113183A>C	ENST00000340648.4	+	16	2313	c.2196A>C	c.(2194-2196)tcA>tcC	p.S732S		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	732					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CCACCAGCTCACCTGCCAGCT	0.612																																						uc002zdk.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21						c.(2194-2196)tcA>tcC		Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.							30.0	29.0	29.0					21																	45113183		2203	4300	6503	SO:0001819	synonymous_variant	23076				rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding	g.chr21:45113183A>C	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.2196A>C	21.37:g.45113183A>C						RRP1B_uc002zdl.3_Silent_p.S265S	p.S732S	NM_015056	NP_055871	Q14684	RRP1B_HUMAN		STAD - Stomach adenocarcinoma(101;0.178)	15	2310	+			732					Q8TBZ4	Silent	SNP	ENST00000340648.4	37	c.2196A>C	CCDS33577.1																																																																																				0.612	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056	
C22orf42	150297	broad.mit.edu	37	22	32546408	32546408	+	Silent	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr22:32546408C>T	ENST00000382097.3	-	7	624	c.552G>A	c.(550-552)tcG>tcA	p.S184S	C22orf42_ENST00000490640.1_5'Flank	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	184								p.S184S(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CACTGAGATCCGATGTCATGA	0.458																																						uc003amd.3																			1	Substitution - coding silent(1)	p.S184S(2)	lung(1)	NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						c.(550-552)tcG>tcA		Homo sapiens chromosome 22 open reading frame 42 (C22orf42), mRNA.							140.0	124.0	130.0					22																	32546408		2203	4300	6503	SO:0001819	synonymous_variant	150297							g.chr22:32546408C>T	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.552G>A	22.37:g.32546408C>T							p.S184S	NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN			6	593	-			184					A4QPH5	Silent	SNP	ENST00000382097.3	37	c.552G>A	CCDS33639.1																																																																																				0.458	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859	
TMPRSS6	164656	broad.mit.edu	37	22	37469590	37469590	+	Missense_Mutation	SNP	C	C	T	rs387907018		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr22:37469590C>T	ENST00000346753.3	-	13	1680	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.E513K|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.E513K|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.E513K	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	522	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.		E -> K (in IRIDA; reduced expression at the cell surface; partially retained in the Golgi apparatus; does not undergo proteolytic processing; able to interact with HFE2; results in reduced inhibition of HAMP promoter). {ECO:0000269|PubMed:19357398}.		angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CACTGCTCTTCGTCGCTGCCG	0.552																																						uc003aqt.1																			0		p.G512W(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(1537-1539)Gaa>Aaa		Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.							168.0	125.0	139.0					22																	37469590		2203	4300	6503	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37469590C>T	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1564G>A	22.37:g.37469590C>T	ENSP00000334962:p.Glu522Lys					TMPRSS6_uc003aqs.1_Missense_Mutation_p.E522K	p.E513K	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN			12	1599	-			522			LDL-receptor class A 2.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.1537G>A	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342716	0.61073	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.99527	0.9831	H	0.98466	4.24	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.97797	1.0242	10	0.72032	D	0.01	.	17.4077	0.87477	0.0:1.0:0.0:0.0	.	513;522	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	K	513;522;513;513	ENSP00000371211:E513K;ENSP00000334962:E522K;ENSP00000385453:E513K;ENSP00000384964:E513K	ENSP00000334962:E522K	E	-	1	0	TMPRSS6	35799536	1.000000	0.71417	0.224000	0.23877	0.033000	0.12548	6.879000	0.75572	2.211000	0.71520	0.471000	0.43371	GAA		0.552	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609	
KIF9	64147	broad.mit.edu	37	3	47307239	47307239	+	Silent	SNP	G	G	A	rs146278510	byFrequency	TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr3:47307239G>A	ENST00000265529.3	-	9	1577	c.897C>T	c.(895-897)caC>caT	p.H299H	KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000444589.2_Silent_p.H299H|KIF9_ENST00000352910.4_Silent_p.H206H|KIF9_ENST00000452770.2_Silent_p.H299H|KIF9_ENST00000335044.2_Silent_p.H299H			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	299	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCTTCAGAGCGTGGGTGAGCT	0.582													G|||	2	0.000399361	0.0	0.0029	5008	,	,		20380	0.0		0.0	False		,,,				2504	0.0				Colon(44;962 1147 15977 24541)	uc010hjp.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(895-897)caC>caT		Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.		G	,,	0,4406		0,0,2203	179.0	137.0	152.0		897,897,897	-4.9	0.9	3	dbSNP_134	152	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous,coding-synonymous,coding-synonymous	KIF9	NM_001134878.1,NM_022342.4,NM_182902.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	299/791,299/726,299/791	47307239	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64147				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr3:47307239G>A	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.897C>T	3.37:g.47307239G>A						KIF9_uc003cqx.3_Silent_p.H299H|KIF9_uc003cqy.3_Silent_p.H299H|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript	p.H299H	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)	8	1501	-		Acute lymphoblastic leukemia(5;0.164)	299					Q86Z28|Q9H8A4	Silent	SNP	ENST00000265529.3	37	c.897C>T	CCDS2752.1																																																																																				0.582	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257475.2		
CEP135	9662	broad.mit.edu	37	4	56875926	56875926	+	Nonsense_Mutation	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr4:56875926C>T	ENST00000257287.4	+	19	2486	c.2362C>T	c.(2362-2364)Cga>Tga	p.R788*		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	788					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ATTGGTTAATCGAGATCGTGA	0.363																																						uc003hbi.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(2362-2364)Cga>Tga		Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.							63.0	64.0	63.0					4																	56875926		2203	4300	6503	SO:0001587	stop_gained	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56875926C>T	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.2362C>T	4.37:g.56875926C>T	ENSP00000257287:p.Arg788*					CEP135_uc003hbj.3_Nonsense_Mutation_p.R494*	p.R788*	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			18	2596	+	Glioma(25;0.08)|all_neural(26;0.101)		788					B2RMY0|O75130|Q58F25|Q9H8H7	Nonsense_Mutation	SNP	ENST00000257287.4	37	c.2362C>T	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	C	37	6.224838	0.97390	.	.	ENSG00000174799	ENST00000257287	.	.	.	5.49	4.64	0.57946	.	0.055066	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	12.9649	0.58478	0.4408:0.5592:0.0:0.0	.	.	.	.	X	788	.	ENSP00000257287:R788X	R	+	1	2	CEP135	56570683	1.000000	0.71417	0.931000	0.37212	0.117000	0.20001	3.554000	0.53720	1.429000	0.47314	0.655000	0.94253	CGA		0.363	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009	
WDFY3	23001	broad.mit.edu	37	4	85657415	85657415	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr4:85657415G>A	ENST00000295888.4	-	42	7230	c.6823C>T	c.(6823-6825)Cgt>Tgt	p.R2275C	WDFY3_ENST00000322366.6_Missense_Mutation_p.R2275C	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2275					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTGCTGACACGGGATAATTTG	0.373																																						uc003hpd.3																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(6823-6825)Cgt>Tgt		Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.							180.0	174.0	176.0					4																	85657415		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85657415G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.6823C>T	4.37:g.85657415G>A	ENSP00000295888:p.Arg2275Cys					WDFY3_uc003hpe.1_5'Flank	p.R2275C	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	41	7231	-		Hepatocellular(203;0.114)	2275					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.6823C>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467142	0.84533	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.66995	-0.23;-0.24	5.35	5.35	0.76521	.	0.103999	0.64402	D	0.000003	T	0.69922	0.3165	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	P	0.50791	0.65	T	0.73056	-0.4103	10	0.87932	D	0	.	15.9391	0.79739	0.0:0.0:0.8648:0.1352	.	2275	Q8IZQ1	WDFY3_HUMAN	C	2275	ENSP00000318466:R2275C;ENSP00000295888:R2275C	ENSP00000295888:R2275C	R	-	1	0	WDFY3	85876439	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.352000	0.52239	2.941000	0.99782	0.655000	0.94253	CGT		0.373	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
GFM2	84340	broad.mit.edu	37	5	74056813	74056813	+	Splice_Site	SNP	T	T	C			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr5:74056813T>C	ENST00000296805.3	-	3	521		c.e3-2		GFM2_ENST00000345239.2_Splice_Site|GFM2_ENST00000509430.1_Splice_Site|GFM2_ENST00000427854.2_Splice_Site	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GCATATATTCTAGTAAAGAGA	0.294																																						uc010izj.1																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14						c.e4-1		Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							62.0	69.0	67.0					5																	74056813		2203	4297	6500	SO:0001630	splice_region_variant	84340				mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	g.chr5:74056813T>C	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.64-2A>G	5.37:g.74056813T>C						GFM2_uc003kdh.1_Splice_Site_p.N22_splice|GFM2_uc003kdi.1_Splice_Site_p.N22_splice|GFM2_uc010izk.1_Splice_Site|GFM2_uc003kdj.1_Splice_Site_p.N22_splice|GFM2_uc010izl.1_Splice_Site_p.N22_splice	p.N54_splice	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	4	486	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	22						Splice_Site	SNP	ENST00000296805.3	37	c.160_splice	CCDS4023.1	.	.	.	.	.	.	.	.	.	.	T	6.132	0.392617	0.11638	.	.	ENSG00000164347	ENST00000296805;ENST00000345239;ENST00000546082;ENST00000509430;ENST00000427854;ENST00000509097	.	.	.	5.08	3.82	0.43975	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1428	0.42744	0.149:0.0:0.0:0.851	.	.	.	.	.	-1	.	.	.	-	.	.	GFM2	74092569	0.993000	0.37304	0.796000	0.32109	0.030000	0.12068	3.211000	0.51137	2.216000	0.71823	0.533000	0.62120	.		0.294	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380	Intron
PCDHA1	56147	broad.mit.edu	37	5	140167207	140167207	+	Silent	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr5:140167207G>A	ENST00000504120.2	+	1	1332	c.1332G>A	c.(1330-1332)gaG>gaA	p.E444E	PCDHA1_ENST00000378133.3_Silent_p.E444E|PCDHA1_ENST00000394633.3_Silent_p.E444E	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	444	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCGTGGAGGTGGCCGACG	0.667																																						uc003lhb.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1330-1332)gaG>gaA		Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.							79.0	83.0	82.0					5																	140167207		2203	4299	6502	SO:0001819	synonymous_variant	56147				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140167207G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1332G>A	5.37:g.140167207G>A						PCDHAC2_uc003lha.2_Silent_p.E444E|PCDHAC2_uc003lgz.3_Silent_p.E444E	p.E444E	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1332	+			458			Cadherin 4.		O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1332G>A	CCDS54913.1																																																																																				0.667	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900	
RP9	6100	broad.mit.edu	37	7	33138995	33138995	+	Silent	SNP	G	G	A	rs374773345		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr7:33138995G>A	ENST00000297157.3	-	3	254	c.237C>T	c.(235-237)caC>caT	p.H79H		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	79	PIM1-binding. {ECO:0000250}.				cognition (GO:0050890)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			ATTCCCTGGCGTGTTCATTGC	0.463																																						uc003tdm.3																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(235-237)caC>caT		Homo sapiens retinitis pigmentosa 9 (autosomal dominant) (RP9), mRNA.							175.0	155.0	162.0					7																	33138995		2203	4300	6503	SO:0001819	synonymous_variant	6100				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr7:33138995G>A	AX016710	CCDS5440.1	7p14.3	2014-01-28			ENSG00000164610	ENSG00000164610			10288	protein-coding gene	gene with protein product	"""Pim-1 kinase associated protein"""	607331				8513323	Standard	NM_203288		Approved	PAP-1	uc003tdm.3	Q8TA86	OTTHUMG00000152988	ENST00000297157.3:c.237C>T	7.37:g.33138995G>A							p.H79H	NM_203288	NP_976033	Q8TA86	RP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0403)		2	255	-			79			PIM1-binding (By similarity).			Silent	SNP	ENST00000297157.3	37	c.237C>T	CCDS5440.1																																																																																				0.463	RP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328914.1	NM_203288	
FKBP9P1	360132	broad.mit.edu	37	7	55752973	55752973	+	RNA	SNP	C	C	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr7:55752973C>T	ENST00000455909.1	-	0	590				RNU6-389P_ENST00000517048.1_RNA	NR_027340.1|NR_027342.1		Q75LS8	FKB9L_HUMAN							protein folding (GO:0006457)		calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5						GGCCAGCCACCAGCTCCAGCA	0.562																																						uc010kzl.3																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(475-477)ctG>ctA		Homo sapiens FK506 binding protein 9-like (FKBP9L), transcript variant 4, non-coding RNA.							150.0	127.0	134.0					7																	55752973		692	1591	2283			360132							g.chr7:55752973C>T																													7.37:g.55752973C>T						FKBP9L_uc010kzk.3_Silent_p.L48L|FKBP9L_uc003tqt.3_Silent_p.L48L|FKBP9L_uc011kcs.2_Silent_p.L48L|U6_uc022adq.1_5'Flank	p.L159L							4	577	-								B2R7H1	Silent	SNP	ENST00000455909.1	37	c.477G>A																																																																																					0.562	FKBP9L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000251473.2		
CCDC146	57639	broad.mit.edu	37	7	76796979	76796979	+	5'UTR	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr7:76796979G>A	ENST00000285871.4	+	0	121				CCDC146_ENST00000431197.1_5'UTR|RP11-467H10.2_ENST00000459742.1_RNA	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TTTTAGAATCGTGAAAAATGG	0.308																																						uc003uga.3																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34								Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.							35.0	35.0	35.0					7																	76796979		2203	4299	6502	SO:0001623	5_prime_UTR_variant	57639							g.chr7:76796979G>A	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.-7G>A	7.37:g.76796979G>A						CCDC146_uc003ufz.1_5'UTR		NM_020879	NP_065930	Q8IYE0	CC146_HUMAN			1		+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)						A8K8X6|Q9P223	Translation_Start_Site	SNP	ENST00000285871.4	37		CCDS34671.1																																																																																				0.308	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879	
CROT	54677	broad.mit.edu	37	7	86998729	86998729	+	Silent	SNP	G	G	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr7:86998729G>T	ENST00000331536.3	+	7	770	c.585G>T	c.(583-585)ctG>ctT	p.L195L	CROT_ENST00000419147.2_Silent_p.L223L|CROT_ENST00000442291.1_Silent_p.L195L	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	195					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TTGTAGTGCTGTGTCGAGGCC	0.428																																						uc003uiu.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(667-669)ctG>ctT		Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	L-Carnitine(DB00583)						213.0	199.0	203.0					7																	86998729		2203	4300	6503	SO:0001819	synonymous_variant	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:86998729G>T		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.585G>T	7.37:g.86998729G>T						CROT_uc003uit.3_Silent_p.L195L	p.L223L	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN			7	914	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		195					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Silent	SNP	ENST00000331536.3	37	c.669G>T	CCDS5604.1																																																																																				0.428	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151	
ATP6V0A4	50617	broad.mit.edu	37	7	138440516	138440516	+	Missense_Mutation	SNP	G	G	T			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr7:138440516G>T	ENST00000310018.2	-	10	1016	c.734C>A	c.(733-735)aCt>aAt	p.T245N	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.T245N|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.T245N	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	245					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGGGTAGACAGTGGCTCGAAA	0.498																																						uc003vuf.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(733-735)aCt>aAt		Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.							97.0	88.0	91.0					7																	138440516		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138440516G>T	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.734C>A	7.37:g.138440516G>T	ENSP00000308122:p.Thr245Asn					ATP6V0A4_uc003vug.3_Missense_Mutation_p.T245N|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.T245N	p.T245N	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			8	972	-			245					A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.734C>A	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.838662	0.51057	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.85411	-1.98;-1.98;-1.98	5.97	5.1	0.69264	.	0.324016	0.30311	N	0.009914	D	0.85208	0.5644	N	0.25789	0.76	0.53005	D	0.999962	D	0.63880	0.993	P	0.60541	0.876	T	0.82829	-0.0264	10	0.21540	T	0.41	-29.5671	15.368	0.74538	0.0667:0.0:0.9333:0.0	.	245	Q9HBG4	VPP4_HUMAN	N	245	ENSP00000308122:T245N;ENSP00000376774:T245N;ENSP00000253856:T245N	ENSP00000308122:T245N	T	-	2	0	ATP6V0A4	138091056	1.000000	0.71417	0.895000	0.35142	0.074000	0.17049	7.413000	0.80104	1.535000	0.49220	0.655000	0.94253	ACT		0.498	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632	
C9orf131	138724	broad.mit.edu	37	9	35045866	35045866	+	Nonstop_Mutation	SNP	G	G	C			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr9:35045866G>C	ENST00000312292.5	+	2	3287	c.3240G>C	c.(3238-3240)taG>taC	p.*1080Y	C9orf131_ENST00000421362.2_Nonstop_Mutation_p.*1032Y|C9orf131_ENST00000354479.5_Nonstop_Mutation_p.*1007Y	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	0										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTAGTCAGTAGAGAAAAGGCT	0.483																																						uc003zvw.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(3238-3240)taG>taC		Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.							110.0	109.0	109.0					9																	35045866		2203	4300	6503	SO:0001578	stop_lost	138724							g.chr9:35045866G>C	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.3240G>C	9.37:g.35045866G>C	ENSP00000308279:p.*1080Tyrext*5					C9orf131_uc003zvu.3_Nonstop_Mutation_p.*1032Y|C9orf131_uc003zvv.3_Nonstop_Mutation_p.*1007Y|C9orf131_uc003zvx.3_Nonstop_Mutation_p.*1045Y	p.*1080Y	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		1	3269	+	all_epithelial(49;0.22)		0					A6NLE6|E9PB26|Q86XC6|Q9UF74	Nonstop_Mutation	SNP	ENST00000312292.5	37	c.3240G>C	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	G	4.538	0.099880	0.08681	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	.	.	.	2.15	0.15	0.14883	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.7776	0.05352	0.1666:0.0:0.5594:0.274	.	.	.	.	Y	1032;1007;1080;555	.	.	X	+	3	2	C9orf131	35035866	0.000000	0.05858	0.003000	0.11579	0.184000	0.23303	-0.415000	0.07106	0.039000	0.15632	0.447000	0.29281	TAG		0.483	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299	
CNTNAP3	79937	broad.mit.edu	37	9	39099958	39099959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr9:39099958_39099959insC	ENST00000297668.6	-	18	3017_3018	c.2944_2945insG	c.(2944-2946)gtcfs	p.V982fs	CNTNAP3_ENST00000377656.2_Intron|CNTNAP3_ENST00000358144.2_Frame_Shift_Ins_p.V894fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	982	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTCACAGGTGACCCCCCTGCGT	0.535																																						uc004abi.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(2944-2946)gtcfs		Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.																																				SO:0001589	frameshift_variant	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39099958_39099959insC	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.2945dupG	9.37:g.39099964_39099964dupC	ENSP00000297668:p.Val982fs					CNTNAP3_uc004abj.3_Intron|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Frame_Shift_Ins_p.V982fs	p.V982fs	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	17	3183_3184	-			982			EGF-like 2.		B1AMA0|Q9C0E9	Frame_Shift_Ins	INS	ENST00000297668.6	37	c.2944_2945insG	CCDS6616.1																																																																																				0.535	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655	
GPR107	57720	broad.mit.edu	37	9	132848732	132848732	+	Missense_Mutation	SNP	A	A	G			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr9:132848732A>G	ENST00000372406.1	+	7	1105	c.598A>G	c.(598-600)Aat>Gat	p.N200D	GPR107_ENST00000347136.6_Missense_Mutation_p.N200D|GPR107_ENST00000372410.3_Missense_Mutation_p.N200D	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	200						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TGTTCATAATAATGGTGGGGC	0.348																																						uc004bze.2																			0				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11						c.(598-600)Aat>Gat		Homo sapiens G protein-coupled receptor 107 (GPR107), transcript variant 1, mRNA.							195.0	189.0	191.0					9																	132848732		2203	4300	6503	SO:0001583	missense	57720					integral to membrane		g.chr9:132848732A>G	AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.598A>G	9.37:g.132848732A>G	ENSP00000361483:p.Asn200Asp					GPR107_uc004bzb.2_Missense_Mutation_p.N11D|GPR107_uc011mbx.1_Missense_Mutation_p.N200D|GPR107_uc004bzd.2_Missense_Mutation_p.N200D	p.N200D	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN			6	825	+		Ovarian(14;0.000531)	200					A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Missense_Mutation	SNP	ENST00000372406.1	37	c.598A>G	CCDS48041.1	.	.	.	.	.	.	.	.	.	.	A	9.507	1.104713	0.20632	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410;ENST00000455412	T;T;T	0.23147	1.92;1.93;1.93	5.56	5.56	0.83823	.	0.451094	0.23799	N	0.044455	T	0.15696	0.0378	N	0.20685	0.6	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.20273	-1.0280	10	0.12103	T	0.63	-7.4326	12.125	0.53913	1.0:0.0:0.0:0.0	.	200;200;200	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	D	200	ENSP00000361483:N200D;ENSP00000336988:N200D;ENSP00000361487:N200D	ENSP00000336988:N200D	N	+	1	0	GPR107	131888553	0.007000	0.16637	0.028000	0.17463	0.645000	0.38454	2.227000	0.42972	2.123000	0.65237	0.477000	0.44152	AAT		0.348	GPR107-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054643.2		
STS	412	broad.mit.edu	37	X	7194035	7194035	+	Missense_Mutation	SNP	G	G	A			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chrX:7194035G>A	ENST00000217961.4	+	6	1085	c.865G>A	c.(865-867)Gtg>Atg	p.V289M		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	289					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	CTACCTCCACGTGCACACAGC	0.453									Ichthyosis																													uc004cry.4																			0				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27						c.(865-867)Gtg>Atg		Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	Estrone(DB00655)						107.0	72.0	84.0					X																	7194035		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7194035G>A	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.865G>A	X.37:g.7194035G>A	ENSP00000217961:p.Val289Met						p.V289M	NM_000351	NP_000342	P08842	STS_HUMAN			5	1110	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	289					B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.865G>A	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333723	0.41297	.	.	ENSG00000101846	ENST00000217961	D	0.94046	-3.34	3.91	2.97	0.34412	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.061232	0.64402	N	0.000004	D	0.94398	0.8198	L	0.60904	1.88	0.36444	D	0.865699	D	0.76494	0.999	D	0.66084	0.941	D	0.94055	0.7321	10	0.62326	D	0.03	.	8.4848	0.33065	0.1299:0.0:0.8701:0.0	.	289	P08842	STS_HUMAN	M	289	ENSP00000217961:V289M	ENSP00000217961:V289M	V	+	1	0	STS	7204035	1.000000	0.71417	0.478000	0.27316	0.159000	0.22180	3.743000	0.55104	0.433000	0.26313	0.506000	0.49869	GTG		0.453	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351	
JADE3	9767	broad.mit.edu	37	X	46918293	46918293	+	Missense_Mutation	SNP	G	G	C			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chrX:46918293G>C	ENST00000218343.4	+	11	2584	c.2286G>C	c.(2284-2286)caG>caC	p.Q762H	PHF16_ENST00000397189.1_Missense_Mutation_p.Q762H	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CTCCATATCAGGAAAATGATG	0.483																																						uc004dgx.3																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						c.(2284-2286)caG>caC		Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.							47.0	41.0	43.0					X																	46918293		2203	4300	6503	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46918293G>C																												ENST00000218343.4:c.2286G>C	X.37:g.46918293G>C	ENSP00000218343:p.Gln762His					PHF16_uc004dgy.3_Missense_Mutation_p.Q762H	p.Q762H	NM_001077445	NP_055550	Q92613	JADE3_HUMAN			10	2337	+			762						Missense_Mutation	SNP	ENST00000218343.4	37	c.2286G>C	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458212	0.43634	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.59638	0.25;0.25	5.55	-0.203	0.13204	.	1.012530	0.07878	N	0.969042	T	0.43853	0.1266	L	0.34521	1.04	0.54753	D	0.999987	P	0.43477	0.808	B	0.42851	0.4	T	0.42732	-0.9434	10	0.62326	D	0.03	.	1.5222	0.02518	0.3408:0.128:0.3969:0.1343	.	762	Q92613	JADE3_HUMAN	H	762	ENSP00000380373:Q762H;ENSP00000218343:Q762H	ENSP00000218343:Q762H	Q	+	3	2	PHF16	46803237	1.000000	0.71417	0.989000	0.46669	0.977000	0.68977	2.404000	0.44539	-0.190000	0.10465	-0.199000	0.12753	CAG		0.483	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1		
SLC6A14	11254	broad.mit.edu	37	X	115582754	115582754	+	Missense_Mutation	SNP	T	T	G			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chrX:115582754T>G	ENST00000371900.4	+	8	1166	c.1078T>G	c.(1078-1080)Ttt>Gtt	p.F360V		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	360					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CACTAGCGTGTTTGCTGGATT	0.358																																						uc004eqi.3																			0		p.V359L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1078-1080)Ttt>Gtt		Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	L-Proline(DB00172)						172.0	154.0	160.0					X																	115582754		2203	4300	6503	SO:0001583	missense	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115582754T>G	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1078T>G	X.37:g.115582754T>G	ENSP00000360967:p.Phe360Val						p.F360V	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN			7	1209	+			360					Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	c.1078T>G	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760677	0.69763	.	.	ENSG00000087916	ENST00000371900	T	0.73789	-0.78	5.43	5.43	0.79202	.	0.049510	0.85682	D	0.000000	T	0.68988	0.3061	L	0.31371	0.925	0.48040	D	0.999575	P	0.42827	0.791	P	0.47941	0.562	T	0.66448	-0.5921	10	0.26408	T	0.33	.	12.2595	0.54642	0.0:0.0:0.0:1.0	.	360	Q9UN76	S6A14_HUMAN	V	360	ENSP00000360967:F360V	ENSP00000360967:F360V	F	+	1	0	SLC6A14	115496782	0.997000	0.39634	1.000000	0.80357	0.988000	0.76386	2.542000	0.45744	1.799000	0.52666	0.437000	0.28790	TTT		0.358	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1		
CDR1	1038	broad.mit.edu	37	X	139865904	139865904	+	Missense_Mutation	SNP	C	C	T	rs143948461		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chrX:139865904C>T	ENST00000370532.2	-	1	819	c.628G>A	c.(628-630)Gga>Aga	p.G210R		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	210								p.G210R(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCACATCTTCCGGAAAAAATC	0.438																																						uc004fbg.1																			1	Substitution - Missense(1)	p.G210R(2)	large_intestine(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25						c.(628-630)Gga>Aga		Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.		C	ARG/GLY	2,3833		0,2,1630,571	112.0	108.0	109.0		628	3.7	1.0	X	dbSNP_134	109	0,6728		0,0,2428,1872	no	missense	CDR1	NM_004065.2	125	0,2,4058,2443	TT,TC,CC,C		0.0,0.0522,0.0189	possibly-damaging	210/263	139865904	2,10561	2203	4300	6503	SO:0001583	missense	1038							g.chrX:139865904C>T		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.628G>A	X.37:g.139865904C>T	ENSP00000359563:p.Gly210Arg					AK054921_uc004fbf.1_Non-coding_Transcript	p.G210R	NM_004065	NP_004056	P51861	CDR1_HUMAN			0	820	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	210					Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	c.628G>A	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250435	0.39797	5.22E-4	0.0	ENSG00000184258	ENST00000370532	.	.	.	4.58	3.7	0.42460	.	.	.	.	.	T	0.32704	0.0838	N	0.08118	0	0.24558	N	0.993987	D	0.76494	0.999	D	0.63381	0.914	T	0.09509	-1.0671	7	.	.	.	.	8.8416	0.35146	0.0:0.8854:0.0:0.1146	.	210	P51861	CDR1_HUMAN	R	210	.	.	G	-	1	0	CDR1	139693570	0.061000	0.20836	0.970000	0.41538	0.193000	0.23685	0.177000	0.16801	2.181000	0.69327	0.422000	0.28245	GGA		0.438	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065	
