#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_dbSNPPopFreq	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
ABCA4	24	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	94564351	94564351	+	Splice_Site	SNP	A	A	G			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr1:94564351A>G	ENST00000370225.3	-	6	853	c.767T>C	c.(766-768)gTg>gCg	p.V256A	ABCA4_ENST00000535735.1_Splice_Site_p.V256A	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	256					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTCCCTTACCACACGGAAGAG	0.572																																					p.V256A		.											.	ABCA4	162	0			c.T767C						.						86.0	83.0	84.0					1																	94564351		2203	4300	6503	SO:0001630	splice_region_variant	24	exon6			CTTACCACACGGA	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.768+1T>C	1.37:g.94564351A>G		56.0	0.0		55.0	21.0	NM_000350	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.634269	0.29068	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.90955	-2.64;-2.76	5.83	5.83	0.93111	.	0.258733	0.28146	U	0.016425	T	0.81029	0.4738	L	0.50333	1.59	0.39881	D	0.973643	B;B	0.18968	0.032;0.012	B;B	0.25884	0.064;0.004	T	0.77281	-0.2646	10	0.08599	T	0.76	.	15.8674	0.79074	1.0:0.0:0.0:0.0	.	256;256	F5H6E5;P78363	.;ABCA4_HUMAN	A	256	ENSP00000359245:V256A;ENSP00000437682:V256A	ENSP00000359245:V256A	V	-	2	0	ABCA4	94336939	1.000000	0.71417	0.998000	0.56505	0.237000	0.25408	6.888000	0.75622	2.225000	0.72522	0.460000	0.39030	GTG	.		0.572	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350	Missense_Mutation
ADRA1D	146	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	20	4228867	4228867	+	Nonsense_Mutation	SNP	G	G	T	rs140080149	byFrequency	TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr20:4228867G>T	ENST00000379453.4	-	1	854	c.738C>A	c.(736-738)tgC>tgA	p.C246*		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	246					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CGGTGATACCGCAGAAGCGCT	0.672																																					p.C246X		.											.	ADRA1D	522	0			c.C738A						.						29.0	27.0	28.0					20																	4228867		2198	4300	6498	SO:0001587	stop_gained	146	exon1			GATACCGCAGAAG	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.738C>A	20.37:g.4228867G>T	ENSP00000368766:p.Cys246*	97.0	0.0		86.0	35.0	NM_000678	Q9NPY0	Nonsense_Mutation	SNP	ENST00000379453.4	37	CCDS13079.1	.	.	.	.	.	.	.	.	.	.	g	38	6.699864	0.97772	.	.	ENSG00000171873	ENST00000379453	.	.	.	4.25	1.16	0.20824	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.5193	0.22266	0.4102:0.0:0.5898:0.0	.	.	.	.	X	246	.	ENSP00000368766:C246X	C	-	3	2	ADRA1D	4176867	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.685000	0.37659	0.448000	0.26722	0.552000	0.68991	TGC	G|0.996;A|0.004		0.672	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678	
ANKRD13B	124930	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	17	27940598	27940598	+	Nonstop_Mutation	SNP	T	T	C			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr17:27940598T>C	ENST00000394859.3	+	15	2033	c.1879T>C	c.(1879-1881)Tag>Cag	p.*627Q	RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_5'Flank	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	0						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						GACCGAGCAGTAGCGCCCCCT	0.741																																					p.X627Q		.											.	ANKRD13B	90	0			c.T1879C						.						6.0	11.0	9.0					17																	27940598		1747	3446	5193	SO:0001578	stop_lost	124930	exon15			GAGCAGTAGCGCC	AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.1879T>C	17.37:g.27940598T>C	ENSP00000378328:p.*627Glnext*108	24.0	0.0		20.0	8.0	NM_152345	Q8N7S9	Missense_Mutation	SNP	ENST00000394859.3	37	CCDS11251.1	.	.	.	.	.	.	.	.	.	.	T	18.36	3.606729	0.66558	.	.	ENSG00000198720	ENST00000394859	.	.	.	5.0	2.6	0.31112	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2728	0.31855	0.1314:0.0:0.1375:0.7311	.	.	.	.	Q	627	.	.	X	+	1	0	ANKRD13B	24964724	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.733000	0.68571	0.898000	0.36418	0.460000	0.39030	TAG	.		0.741	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256077.1	NM_152345	
ANXA10	11199	broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	169108554	169108554	+	Missense_Mutation	SNP	C	C	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr4:169108554C>T	ENST00000359299.3	+	12	1130	c.944C>T	c.(943-945)gCc>gTc	p.A315V		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	315						mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		GCACTGCTTGCCATCTGTGCT	0.338																																					p.A315V		.											.	ANXA10	90	0			c.C944T						.						107.0	101.0	103.0					4																	169108554		2203	4300	6503	SO:0001583	missense	11199	exon12			TGCTTGCCATCTG	AJ238979	CCDS34096.1	4q32.3	2008-02-05			ENSG00000109511	ENSG00000109511		"""Annexins"""	534	protein-coding gene	gene with protein product		608008				10458909	Standard	NM_007193		Approved	ANX14	uc003irm.3	Q9UJ72	OTTHUMG00000161275	ENST00000359299.3:c.944C>T	4.37:g.169108554C>T	ENSP00000352248:p.Ala315Val	434.0	1.0		384.0	43.0	NM_007193	Q96IQ5|Q9UJV4	Missense_Mutation	SNP	ENST00000359299.3	37	CCDS34096.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179409	0.38511	.	.	ENSG00000109511	ENST00000359299;ENST00000393751	T	0.04758	3.56	5.51	5.51	0.81932	.	0.086424	0.50627	D	0.000118	T	0.12646	0.0307	M	0.73319	2.225	0.50813	D	0.999893	B;B	0.31752	0.262;0.338	B;B	0.38803	0.21;0.282	T	0.01520	-1.1334	10	0.51188	T	0.08	.	19.4274	0.94749	0.0:1.0:0.0:0.0	.	187;315	Q6ITU8;Q9UJ72	.;ANX10_HUMAN	V	315	ENSP00000352248:A315V	ENSP00000352248:A315V	A	+	2	0	ANXA10	169345129	1.000000	0.71417	0.876000	0.34364	0.014000	0.08584	5.456000	0.66665	2.588000	0.87417	0.650000	0.86243	GCC	.		0.338	ANXA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364348.2	NM_007193	
ARHGEF10	9639	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	8	1871942	1871942	+	Missense_Mutation	SNP	C	C	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr8:1871942C>T	ENST00000398564.1	+	21	2465	c.2465C>T	c.(2464-2466)tCt>tTt	p.S822F	ARHGEF10_ENST00000518288.1_Missense_Mutation_p.S821F|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.S759F|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.S822F|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.S797F			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	822					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCTGGCAGATCTGGGCGACCG	0.468																																					p.S797F		.											.	ARHGEF10	272	0			c.C2390T						.						134.0	110.0	118.0					8																	1871942		2203	4300	6503	SO:0001583	missense	9639	exon21			GCAGATCTGGGCG	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2465C>T	8.37:g.1871942C>T	ENSP00000381571:p.Ser822Phe	137.0	0.0		110.0	10.0	NM_014629	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37		.	.	.	.	.	.	.	.	.	.	C	19.97	3.924475	0.73213	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.61742	0.09;0.14;0.08;0.08;0.11;0.27	5.32	5.32	0.75619	.	0.062472	0.64402	D	0.000003	T	0.79293	0.4421	M	0.86651	2.83	0.80722	D	1	D;D;D	0.60160	0.978;0.987;0.963	P;P;D	0.64687	0.77;0.885;0.928	T	0.83299	-0.0029	10	0.87932	D	0	-28.0951	18.993	0.92801	0.0:1.0:0.0:0.0	.	822;759;797	O15013;O15013-7;O15013-5	ARHGA_HUMAN;.;.	F	797;759;821;822;822;470	ENSP00000340297:S797F;ENSP00000427909:S759F;ENSP00000431012:S821F;ENSP00000381571:S822F;ENSP00000262112:S822F;ENSP00000427768:S470F	ENSP00000262112:S822F	S	+	2	0	ARHGEF10	1859349	0.988000	0.35896	0.962000	0.40283	0.508000	0.34012	2.669000	0.46825	2.465000	0.83290	0.655000	0.94253	TCT	.		0.468	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding			
ARL14	80117	broad.mit.edu;mdanderson.org	37	3	160395171	160395171	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr3:160395171C>T	ENST00000320767.2	+	1	224	c.37C>T	c.(37-39)Caa>Taa	p.Q13*		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	13					small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	GTP binding (GO:0005525)			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			GCAAACCAAACAAGCCCAAGT	0.383																																					p.Q13X		.											.	ARL14	90	0			c.C37T						.						48.0	48.0	48.0					3																	160395171		2203	4300	6503	SO:0001587	stop_gained	80117	exon1			ACCAAACAAGCCC	AK026248	CCDS3192.1	3q25.33	2014-05-09	2005-11-03	2005-11-03	ENSG00000179674	ENSG00000179674		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	22974	protein-coding gene	gene with protein product		614439	"""ADP-ribosylation factor 7"""	ARF7		15367757	Standard	NM_025047		Approved	FLJ22595	uc003fdq.3	Q8N4G2	OTTHUMG00000159031	ENST00000320767.2:c.37C>T	3.37:g.160395171C>T	ENSP00000323847:p.Gln13*	223.0	1.0		215.0	12.0	NM_025047	Q9H655	Nonsense_Mutation	SNP	ENST00000320767.2	37	CCDS3192.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878176	0.72294	.	.	ENSG00000179674	ENST00000320767	.	.	.	5.56	4.68	0.58851	.	0.170403	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.338	15.3226	0.74135	0.0:0.7204:0.2796:0.0	.	.	.	.	X	13	.	ENSP00000323847:Q13X	Q	+	1	0	ARL14	161877865	1.000000	0.71417	0.995000	0.50966	0.155000	0.21991	1.175000	0.31944	1.328000	0.45358	0.467000	0.42956	CAA	.		0.383	ARL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352958.1	NM_025047	
BAZ2B	29994	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	2	160206490	160206490	+	Missense_Mutation	SNP	G	G	A	rs372658436		TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr2:160206490G>A	ENST00000392783.2	-	28	5087	c.4592C>T	c.(4591-4593)aCt>aTt	p.T1531I	BAZ2B_ENST00000343439.5_Missense_Mutation_p.T1431I|BAZ2B_ENST00000355831.2_Missense_Mutation_p.T1497I|BAZ2B_ENST00000392782.1_Missense_Mutation_p.T1495I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1531					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ACTTGAACCAGTATTAAACAG	0.418																																					p.T1531I		.											.	BAZ2B	94	0			c.C4592T						.						147.0	140.0	142.0					2																	160206490		1997	4184	6181	SO:0001583	missense	29994	exon28			GAACCAGTATTAA	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4592C>T	2.37:g.160206490G>A	ENSP00000376534:p.Thr1531Ile	135.0	0.0		134.0	11.0	NM_013450	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	G	1.684	-0.505713	0.04261	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.06849	3.25;3.25;3.25;3.25	6.17	4.35	0.52113	.	0.501674	0.14458	U	0.318345	T	0.06462	0.0166	N	0.22421	0.69	0.09310	N	1	B;B	0.33739	0.045;0.422	B;B	0.24848	0.045;0.056	T	0.28364	-1.0046	10	0.38643	T	0.18	2.0E-4	13.6731	0.62438	0.0:0.1195:0.7559:0.1246	.	1495;1531	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	I	1495;1531;1497;1431	ENSP00000376533:T1495I;ENSP00000376534:T1531I;ENSP00000348087:T1497I;ENSP00000339670:T1431I	ENSP00000339670:T1431I	T	-	2	0	BAZ2B	159914736	0.928000	0.31464	0.001000	0.08648	0.042000	0.13812	5.458000	0.66679	0.906000	0.36621	-0.150000	0.13652	ACT	.		0.418	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2		
C2orf47	79568	broad.mit.edu;mdanderson.org	37	2	200820961	200820961	+	Missense_Mutation	SNP	G	G	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr2:200820961G>T	ENST00000392290.1	+	1	636	c.440G>T	c.(439-441)gGa>gTa	p.G147V	TYW5_ENST00000452512.2_5'Flank|TYW5_ENST00000354611.4_5'Flank|C2orf47_ENST00000295079.2_Missense_Mutation_p.G147V			Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	147						mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						TTCTCCGAGGGAGCGAAGCAG	0.468																																					p.G147V		.											.	C2orf47	90	0			c.G440T						.						95.0	105.0	101.0					2																	200820961		2203	4300	6503	SO:0001583	missense	79568	exon2			CCGAGGGAGCGAA	BC017959	CCDS2329.1	2q33.1	2011-03-08			ENSG00000162972	ENSG00000162972			26198	protein-coding gene	gene with protein product						12477932	Standard	NM_024520		Approved	DKFZp666A212, FLJ22555	uc002uvm.3	Q8WWC4	OTTHUMG00000132771	ENST00000392290.1:c.440G>T	2.37:g.200820961G>T	ENSP00000376111:p.Gly147Val	32.0	0.0		18.0	4.0	NM_024520	Q658V9|Q9H671	Missense_Mutation	SNP	ENST00000392290.1	37	CCDS2329.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	22.7|22.7	4.322741|4.322741	0.81580|0.81580	.|.	.|.	ENSG00000162972|ENSG00000162972	ENST00000435773|ENST00000295079;ENST00000392290	.|T;T	.|0.31247	.|1.5;1.5	6.07|6.07	4.14|4.14	0.48551|0.48551	.|.	.|0.096235	.|0.64402	.|D	.|0.000001	.|T	.|0.50616	.|0.1626	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.65773	.|0.938	.|T	.|0.56998	.|-0.7886	.|10	.|0.87932	.|D	.|0	-11.2994|-11.2994	16.2954|16.2954	0.82768|0.82768	0.0:0.2498:0.7502:0.0|0.0:0.2498:0.7502:0.0	.|.	.|147	.|Q8WWC4	.|CB047_HUMAN	X|V	140|147	.|ENSP00000295079:G147V;ENSP00000376111:G147V	.|ENSP00000295079:G147V	E|G	+|+	1|2	0|0	C2orf47|C2orf47	200529206|200529206	1.000000|1.000000	0.71417|0.71417	0.571000|0.571000	0.28486|0.28486	0.897000|0.897000	0.52465|0.52465	5.539000|5.539000	0.67199|0.67199	1.535000|1.535000	0.49220|0.49220	0.651000|0.651000	0.88453|0.88453	GAG|GGA	.		0.468	C2orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256146.1	NM_024520	
C5orf60	285679	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	179069453	179069453	+	Missense_Mutation	SNP	G	G	A			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr5:179069453G>A	ENST00000448248.2	-	5	746	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	C5orf60_ENST00000506142.1_5'Flank	NM_001142306.1	NP_001135778.1	A6NFR6	CE060_HUMAN	chromosome 5 open reading frame 60	0						integral component of membrane (GO:0016021)				NS(1)|breast(1)|kidney(5)	7						TGAGGAAAGCGGGACCCCTGC	0.552																																					p.R241C		.											.	.	.	0			c.C721T						.						90.0	81.0	84.0					5																	179069453		692	1591	2283	SO:0001583	missense	285679	exon5			GAAAGCGGGACCC	BC043435	CCDS47353.1	5q35.3	2010-08-19			ENSG00000204661	ENSG00000204661			27753	protein-coding gene	gene with protein product						12477932	Standard	NM_001142306		Approved		uc003mki.3	A6NFR6	OTTHUMG00000163221	ENST00000448248.2:c.721C>T	5.37:g.179069453G>A	ENSP00000404583:p.Arg241Cys	70.0	0.0		55.0	27.0	NM_001142306	A1L488|B7ZM52|B7ZM53	Missense_Mutation	SNP	ENST00000448248.2	37	CCDS47353.1	.	.	.	.	.	.	.	.	.	.	g	1.431	-0.570177	0.03910	.	.	ENSG00000204661	ENST00000448248	T	0.30981	1.51	0.517	0.517	0.17025	.	.	.	.	.	T	0.15825	0.0381	.	.	.	0.09310	N	1	P;P	0.46277	0.875;0.875	B;B	0.28553	0.091;0.091	T	0.16041	-1.0416	7	0.72032	D	0.01	.	.	.	.	.	245;241	A6NFR6-2;A6NFR6-4	.;.	C	241	ENSP00000404583:R241C	ENSP00000404583:R241C	R	-	1	0	C5orf60	179002059	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.383000	0.07398	0.539000	0.28788	0.306000	0.20318	CGC	.		0.552	C5orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372148.2	NM_001142306	
C8B	732	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	57406665	57406665	+	Missense_Mutation	SNP	T	T	C			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr1:57406665T>C	ENST00000371237.4	-	9	1321	c.1255A>G	c.(1255-1257)Atg>Gtg	p.M419V	C8B_ENST00000535057.1_Missense_Mutation_p.M357V|C8B_ENST00000543257.1_Missense_Mutation_p.M367V	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	419	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TCCTCCACCATGGTGTCCCTC	0.552																																					p.M419V		.											.	C8B	92	0			c.A1255G						.						131.0	94.0	107.0					1																	57406665		2203	4300	6503	SO:0001583	missense	732	exon9			CCACCATGGTGTC	M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1255A>G	1.37:g.57406665T>C	ENSP00000360281:p.Met419Val	41.0	1.0		62.0	26.0	NM_000066	A1L4K7	Missense_Mutation	SNP	ENST00000371237.4	37	CCDS30730.1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.499445	0.26861	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	D;D;D	0.84070	-1.8;-1.8;-1.8	5.36	2.88	0.33553	Membrane attack complex component/perforin (MACPF) domain (3);	0.518862	0.22988	N	0.053226	T	0.77061	0.4075	M	0.78637	2.42	0.44261	D	0.997114	B;B;B	0.15141	0.001;0.01;0.012	B;B;B	0.12156	0.003;0.006;0.007	T	0.65195	-0.6227	10	0.16420	T	0.52	-15.7272	3.2625	0.06854	0.2013:0.1178:0.0:0.6809	.	367;357;419	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	V	419;367;357	ENSP00000360281:M419V;ENSP00000442548:M367V;ENSP00000440113:M357V	ENSP00000360281:M419V	M	-	1	0	C8B	57179253	0.004000	0.15560	0.823000	0.32752	0.985000	0.73830	0.003000	0.13083	0.975000	0.38392	0.533000	0.62120	ATG	.		0.552	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022886.2		
CELSR1	9620	broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	46782348	46782348	+	Silent	SNP	G	G	A	rs147425309		TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr22:46782348G>A	ENST00000262738.3	-	19	6689	c.6690C>T	c.(6688-6690)aaC>aaT	p.N2230N		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2230					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCGCCGCACGTTGCGTGCCA	0.682																																					p.N2230N		.											.	CELSR1	525	0			c.C6690T						.	G		0,4406		0,0,2203	28.0	22.0	24.0		6690	-0.7	0.0	22	dbSNP_134	24	1,8599		0,1,4299	no	coding-synonymous	CELSR1	NM_014246.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		2230/3015	46782348	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9620	exon19			CCGCACGTTGCGT	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6690C>T	22.37:g.46782348G>A		82.0	1.0		97.0	57.0	NM_014246	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	CCDS14076.1																																																																																			G|1.000;A|0.000		0.682	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	
CHMP7	91782	broad.mit.edu;bcgsc.ca;mdanderson.org	37	8	23104433	23104433	+	Silent	SNP	G	G	A			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr8:23104433G>A	ENST00000397677.1	+	2	873	c.225G>A	c.(223-225)cgG>cgA	p.R75R	CHMP7_ENST00000313219.7_Silent_p.R75R	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	75					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGCGTCTGCGGGACTTGCAGG	0.721											OREG0018633	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R75R		.											.	CHMP7	90	0			c.G225A						.						5.0	6.0	6.0					8																	23104433		2156	4249	6405	SO:0001819	synonymous_variant	91782	exon2			TCTGCGGGACTTG	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.225G>A	8.37:g.23104433G>A		58.0	1.0	761	28.0	12.0	NM_152272	B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Silent	SNP	ENST00000397677.1	37	CCDS6040.1																																																																																			.		0.721	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272	
CHST13	166012	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	3	126260674	126260674	+	Silent	SNP	G	G	A			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr3:126260674G>A	ENST00000319340.2	+	3	329	c.279G>A	c.(277-279)ccG>ccA	p.P93P		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	93					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		TGCTACAGCCGGAGGACCTGC	0.706																																					p.P93P		.											.	CHST13	90	0			c.G279A						.						17.0	13.0	14.0					3																	126260674		2181	4259	6440	SO:0001819	synonymous_variant	166012	exon3			ACAGCCGGAGGAC	AY120869	CCDS3039.1	3q21.3	2008-02-05			ENSG00000180767	ENSG00000180767	2.8.2.5	"""Sulfotransferases, membrane-bound"""	21755	protein-coding gene	gene with protein product		610124				12080076	Standard	NM_152889		Approved	C4ST3	uc003eja.3	Q8NET6	OTTHUMG00000162721	ENST00000319340.2:c.279G>A	3.37:g.126260674G>A		50.0	0.0		49.0	15.0	NM_152889	Q3SYA3|Q3SYA5	Silent	SNP	ENST00000319340.2	37	CCDS3039.1																																																																																			.		0.706	CHST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370201.2	NM_152889	
CLSTN3	9746	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	7287981	7287981	+	Missense_Mutation	SNP	C	C	G			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr12:7287981C>G	ENST00000266546.6	+	4	892	c.442C>G	c.(442-444)Cgg>Ggg	p.R148G	CLSTN3_ENST00000537408.1_Missense_Mutation_p.R160G	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	148	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GTTTGTGGAACGGCTGTATCG	0.582																																					p.R148G		.											.	CLSTN3	153	0			c.C442G						.						226.0	135.0	165.0					12																	7287981		2203	4300	6503	SO:0001583	missense	9746	exon4			GTGGAACGGCTGT	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.442C>G	12.37:g.7287981C>G	ENSP00000266546:p.Arg148Gly	98.0	2.0		103.0	39.0	NM_014718	D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725811	0.48833	.	.	ENSG00000139182	ENST00000266546;ENST00000545663;ENST00000535452;ENST00000534830;ENST00000539982;ENST00000537408	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.01	4.09	0.47781	Cadherin (3);Cadherin-like (1);	0.125624	0.53938	D	0.000043	T	0.24586	0.0596	N	0.19112	0.55	0.50813	D	0.999891	P;B	0.38827	0.649;0.428	B;B	0.32342	0.144;0.111	T	0.04165	-1.0972	9	.	.	.	-23.0381	12.7239	0.57159	0.3578:0.6421:0.0:0.0	.	160;148	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	G	148;111;111;111;131;160	ENSP00000266546:R148G;ENSP00000442612:R111G;ENSP00000443468:R111G;ENSP00000443490:R111G;ENSP00000442801:R131G;ENSP00000440679:R160G	.	R	+	1	2	CLSTN3	7179248	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	3.150000	0.50662	1.282000	0.44496	0.455000	0.32223	CGG	.		0.582	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718	
CYP1B1	1545	hgsc.bcm.edu;broad.mit.edu	37	2	38301745	38301745	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr2:38301745G>A	ENST00000260630.3	-	2	1188	c.787C>T	c.(787-789)Cag>Tag	p.Q263*	CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Nonsense_Mutation_p.Q263*|CYP1B1-AS1_ENST00000589303.1_RNA|CYP1B1-AS1_ENST00000431999.1_RNA	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	263					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	CGGTTGAGCTGCTCGAATTCG	0.642																																					p.Q263X		.											.	CYP1B1	515	0			c.C787T						.						43.0	39.0	40.0					2																	38301745		2203	4300	6503	SO:0001587	stop_gained	1545	exon2			TGAGCTGCTCGAA	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.787C>T	2.37:g.38301745G>A	ENSP00000260630:p.Gln263*	204.0	0.0		194.0	11.0	NM_000104	Q5TZW8|Q93089|Q9H316	Nonsense_Mutation	SNP	ENST00000260630.3	37	CCDS1793.1	.	.	.	.	.	.	.	.	.	.	G	38	6.657105	0.97739	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	.	.	.	4.51	-0.0439	0.13857	.	0.534588	0.20863	N	0.084312	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	7.9908	0.30239	0.0:0.255:0.4596:0.2854	.	.	.	.	X	263	.	ENSP00000260630:Q263X	Q	-	1	0	CYP1B1	38155249	0.000000	0.05858	0.906000	0.35671	0.943000	0.58893	0.097000	0.15168	0.128000	0.18479	0.650000	0.86243	CAG	.		0.642	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104	
DDX19B	11269	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	70363839	70363839	+	Silent	SNP	G	G	A			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr16:70363839G>A	ENST00000288071.6	+	9	1136	c.891G>A	c.(889-891)ctG>ctA	p.L297L	RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000451014.3_Silent_p.L271L|DDX19B_ENST00000355992.3_Silent_p.L266L|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000568625.1_Silent_p.L188L|DDX19B_ENST00000563206.1_Silent_p.L302L|DDX19B_ENST00000393657.2_Silent_p.L188L|DDX19B_ENST00000563392.1_Silent_p.L188L	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	297	N-terminal lobe.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				TTATCAAACTGAAGCGTGAGG	0.532																																					p.L297L	Esophageal Squamous(26;382 757 1343 9728 15939)	.											.	DDX19B	226	0			c.G891A						.						189.0	163.0	172.0					16																	70363839		2198	4300	6498	SO:0001819	synonymous_variant	11269	exon9			CAAACTGAAGCGT	AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"""DEAD-boxes"""	2742	protein-coding gene	gene with protein product		605812	"""DEAD (Asp-Glu-Ala-As) box polypeptide 19"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"""	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.891G>A	16.37:g.70363839G>A		148.0	1.0		115.0	30.0	NM_007242	B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Silent	SNP	ENST00000288071.6	37	CCDS10888.1																																																																																			.		0.532	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268965.3	NM_007242	
DLST	1743	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	75359658	75359658	+	Silent	SNP	C	C	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr14:75359658C>T	ENST00000334220.4	+	8	625	c.564C>T	c.(562-564)ccC>ccT	p.P188P	DLST_ENST00000334212.6_Silent_p.P102P|DLST_ENST00000555190.1_3'UTR	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	188					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		CACCGGTGCCCTCGCCCTCAC	0.572																																					p.P188P		.											.	DLST	227	0			c.C564T						.						67.0	56.0	60.0					14																	75359658		2203	4300	6503	SO:0001819	synonymous_variant	1743	exon8			GGTGCCCTCGCCC		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.564C>T	14.37:g.75359658C>T		62.0	0.0		78.0	8.0	NM_001933	B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Silent	SNP	ENST00000334220.4	37	CCDS9833.1																																																																																			.		0.572	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1		
EEF1G	1937	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	62334990	62334990	+	Missense_Mutation	SNP	G	G	C			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr11:62334990G>C	ENST00000329251.4	-	6	663	c.533C>G	c.(532-534)cCt>cGt	p.P178R	EEF1G_ENST00000378019.3_Missense_Mutation_p.P228R|MIR3654_ENST00000496634.2_3'UTR	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	178	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCGGAAAGAAGGCTCTAGAAC	0.527																																					p.P178R		.											.	.	.	0			c.C533G						.						43.0	42.0	42.0					11																	62334990		1908	4114	6022	SO:0001583	missense	1937	exon6			AAAGAAGGCTCTA	X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.533C>G	11.37:g.62334990G>C	ENSP00000331901:p.Pro178Arg	74.0	1.0		53.0	10.0	NM_001404	B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Missense_Mutation	SNP	ENST00000329251.4	37	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453951	0.84209	.	.	ENSG00000254772	ENST00000329251;ENST00000378019	T;T	0.02140	4.43;4.43	4.8	4.8	0.61643	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.058399	0.64402	D	0.000002	T	0.18718	0.0449	H	0.94658	3.565	0.80722	D	1	D;D	0.69078	0.997;0.976	D;D	0.71414	0.966;0.973	T	0.06075	-1.0847	10	0.59425	D	0.04	.	15.7129	0.77644	0.0:0.0:1.0:0.0	.	228;178	B4DTG2;P26641	.;EF1G_HUMAN	R	178;228	ENSP00000331901:P178R;ENSP00000367258:P228R	ENSP00000331901:P178R	P	-	2	0	EEF1G	62091566	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.392000	0.97252	2.380000	0.81148	0.561000	0.74099	CCT	.		0.527	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395047.1	NM_001404	
EIF4ENIF1	56478	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	31845450	31845450	+	Missense_Mutation	SNP	A	A	C			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr22:31845450A>C	ENST00000397525.1	-	12	1875	c.1652T>G	c.(1651-1653)tTg>tGg	p.L551W	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.L376W|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.L551W|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.L527W|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.L206W	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	551						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGTAGGCTCCAAGCTCCCCAT	0.507																																					p.L551W		.											.	EIF4ENIF1	91	0			c.T1652G						.						118.0	118.0	118.0					22																	31845450		2203	4300	6503	SO:0001583	missense	56478	exon12			GGCTCCAAGCTCC	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.1652T>G	22.37:g.31845450A>C	ENSP00000380659:p.Leu551Trp	77.0	0.0		72.0	24.0	NM_019843	B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.017915	0.75275	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180	.	.	.	5.93	4.89	0.63831	.	0.197661	0.43110	D	0.000604	T	0.74696	0.3750	L	0.59436	1.845	0.44694	D	0.997684	D;D;D;B	0.89917	1.0;1.0;1.0;0.013	D;D;D;B	0.91635	0.999;0.999;0.988;0.013	T	0.75204	-0.3400	9	0.54805	T	0.06	-7.5621	12.6931	0.56988	0.8624:0.1376:0.0:0.0	.	376;551;376;527	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	W	376;551;551;527;206	.	ENSP00000328103:L551W	L	-	2	0	EIF4ENIF1	30175450	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.629000	0.61290	1.050000	0.40346	0.455000	0.32223	TTG	.		0.507	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843	
EP300	2033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	41574846	41574846	+	Silent	SNP	T	T	C			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr22:41574846T>C	ENST00000263253.7	+	31	8350	c.7131T>C	c.(7129-7131)gcT>gcC	p.A2377A	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2377					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTCAGCTTGCTAGCAATCCAG	0.542			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																												p.A2377A		.		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	.	EP300	2011	0			c.T7131C						.						50.0	51.0	50.0					22																	41574846		2203	4300	6503	SO:0001819	synonymous_variant	2033	exon31	Familial Cancer Database	Broad Thumb-Hallux syndrome	GCTTGCTAGCAAT	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.7131T>C	22.37:g.41574846T>C		87.0	0.0		63.0	22.0	NM_001429	B1AKC2	Silent	SNP	ENST00000263253.7	37	CCDS14010.1																																																																																			.		0.542	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
EXOSC7	23016	broad.mit.edu;bcgsc.ca	37	3	45048999	45048999	+	Missense_Mutation	SNP	G	G	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr3:45048999G>T	ENST00000265564.7	+	7	751	c.703G>T	c.(703-705)Gtt>Ttt	p.V235F	CLEC3B_ENST00000490386.1_Intron|EXOSC7_ENST00000461361.1_3'UTR	NM_015004.3	NP_055819.2	Q15024	EXOS7_HUMAN	exosome component 7	235					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		CAGCAAGGGAGTTGTGACGTG	0.582																																					p.V235F		.											.	EXOSC7	90	0			c.G703T						.						99.0	81.0	87.0					3																	45048999		2203	4300	6503	SO:0001583	missense	23016	exon7			AAGGGAGTTGTGA	BC012831	CCDS2725.1	3p21.32	2010-05-07			ENSG00000075914	ENSG00000075914	3.1.13.-		28112	protein-coding gene	gene with protein product		606488				11719186, 11812149	Standard	NR_023353		Approved	hRrp42p, Rrp42p, RRP42, EAP1, KIAA0116, p8	uc003coi.2	Q15024	OTTHUMG00000133095	ENST00000265564.7:c.703G>T	3.37:g.45048999G>T	ENSP00000265564:p.Val235Phe	79.0	0.0		66.0	5.0	NM_015004	Q96E72	Missense_Mutation	SNP	ENST00000265564.7	37	CCDS2725.1	.	.	.	.	.	.	.	.	.	.	G	9.324	1.058705	0.19987	.	.	ENSG00000075914	ENST00000265564	T	0.41758	0.99	5.77	4.89	0.63831	Exoribonuclease, phosphorolytic domain 2 (1);	0.290000	0.38217	N	0.001770	T	0.22936	0.0554	N	0.04880	-0.145	0.58432	D	0.999996	B;B	0.11235	0.004;0.004	B;B	0.17433	0.018;0.012	T	0.06006	-1.0851	10	0.52906	T	0.07	-25.0441	10.4422	0.44472	0.1441:0.0:0.8559:0.0	.	235;235	B2RDZ9;Q15024	.;EXOS7_HUMAN	F	235	ENSP00000265564:V235F	ENSP00000265564:V235F	V	+	1	0	EXOSC7	45024003	0.236000	0.23804	0.844000	0.33320	0.991000	0.79684	2.504000	0.45416	2.723000	0.93209	0.655000	0.94253	GTT	.		0.582	EXOSC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256754.2	NM_015004	
FAM208B	54906	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	5788372	5788372	+	Silent	SNP	C	C	T	rs545198118		TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr10:5788372C>T	ENST00000328090.5	+	15	3613	c.2988C>T	c.(2986-2988)taC>taT	p.Y996Y	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	996								p.Y996Y(1)									GCTCTGTGTACGGCACCCTTG	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		20163	0.0		0.0	False		,,,				2504	0.001				p.Y996Y		.											.	.	.	1	Substitution - coding silent(1)	endometrium(1)	c.C2988T						.						104.0	100.0	101.0					10																	5788372		2004	4168	6172	SO:0001819	synonymous_variant	54906	exon15			TGTGTACGGCACC	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.2988C>T	10.37:g.5788372C>T		82.0	0.0		51.0	5.0	NM_017782	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	CCDS41485.1																																																																																			.		0.473	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782	
FAM210A	125228	broad.mit.edu;ucsc.edu	37	18	13666480	13666480	+	Silent	SNP	T	T	C			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr18:13666480T>C	ENST00000322247.3	-	5	1205	c.818A>G	c.(817-819)tAa>tGa	p.*273*	FAM210A_ENST00000402563.1_Silent_p.*273*|FAM210A_ENST00000588475.1_5'UTR|AP001010.1_ENST00000580433.1_RNA	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	0						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											TAAGGCACCTTATTCCACTTT	0.338																																					p.X273X		.											.	.	.	0			c.A818G						.						74.0	70.0	72.0					18																	13666480		2203	4299	6502	SO:0001819	synonymous_variant	125228	exon5			GCACCTTATTCCA	AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 19"""	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.818A>G	18.37:g.13666480T>C		113.0	1.0		92.0	38.0	NM_001098801	D3DUJ4	Silent	SNP	ENST00000322247.3	37	CCDS11866.1																																																																																			.		0.338	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1	NM_152352	
FANCM	57697	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	45658377	45658377	+	Missense_Mutation	SNP	G	G	A	rs371629950		TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr14:45658377G>A	ENST00000267430.5	+	20	5237	c.5152G>A	c.(5152-5154)Gtg>Atg	p.V1718M	FANCM_ENST00000542564.2_Missense_Mutation_p.V1692M	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1718					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GCAGTCCAAGGTGCGTTCTAC	0.408								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.V1718M		.											.	FANCM	569	0			c.G5152A						.	G	MET/VAL	0,4406		0,0,2203	140.0	139.0	139.0		5152	2.5	0.0	14		139	1,8599	1.2+/-3.3	0,1,4299	no	missense	FANCM	NM_020937.2	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1718/2049	45658377	1,13005	2203	4300	6503	SO:0001583	missense	57697	exon20	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	TCCAAGGTGCGTT	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5152G>A	14.37:g.45658377G>A	ENSP00000267430:p.Val1718Met	174.0	0.0		176.0	77.0	NM_020937	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.608|7.608	0.674106|0.674106	0.14841|0.14841	0.0|0.0	1.16E-4|1.16E-4	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250	.|T;T;T	.|0.77358	.|-1.09;-1.09;-1.09	5.28|5.28	2.45|2.45	0.29901|0.29901	.|.	.|1.660690	.|0.03081	.|N	.|0.158562	T|T	0.63022|0.63022	0.2476|0.2476	N|N	0.04959|0.04959	-0.14|-0.14	0.09310|0.09310	N|N	1|1	.|B;B	.|0.14012	.|0.009;0.001	.|B;B	.|0.11329	.|0.006;0.003	T|T	0.52366|0.52366	-0.8585|-0.8585	5|10	.|0.45353	.|T	.|0.12	.|.	10.0425|10.0425	0.42166|0.42166	0.3005:0.0:0.6995:0.0|0.3005:0.0:0.6995:0.0	.|.	.|1692;1718	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	D|M	650|1718;1692;1234	.|ENSP00000267430:V1718M;ENSP00000442493:V1692M;ENSP00000452033:V1234M	.|ENSP00000267430:V1718M	G|V	+|+	2|1	0|0	FANCM|FANCM	44728127|44728127	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.713000|0.713000	0.25794|0.25794	0.068000|0.068000	0.16574|0.16574	-1.761000|-1.761000	0.00669|0.00669	GGT|GTG	.		0.408	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
GLT1D1	144423	broad.mit.edu;bcgsc.ca	37	12	129360597	129360597	+	Silent	SNP	G	G	A			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr12:129360597G>A	ENST00000442111.2	+	2	295	c.207G>A	c.(205-207)agG>agA	p.R69R	GLT1D1_ENST00000537468.1_Silent_p.R58R|GLT1D1_ENST00000281703.6_Silent_p.R69R|GLT1D1_ENST00000542193.1_5'UTR			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	69					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GGGGAGGCAGGCTTTTGCAAG	0.453																																					p.R69R		.											.	GLT1D1	90	0			c.G207A						.						121.0	126.0	124.0					12																	129360597		2203	4300	6503	SO:0001819	synonymous_variant	144423	exon2			AGGCAGGCTTTTG		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.207G>A	12.37:g.129360597G>A		46.0	0.0		53.0	5.0	NM_144669	Q86XG8	Silent	SNP	ENST00000442111.2	37																																																																																				.		0.453	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669	
GPR56	9289	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	57685514	57685514	+	Missense_Mutation	SNP	G	G	C			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr16:57685514G>C	ENST00000388812.4	+	3	907	c.467G>C	c.(466-468)aGc>aCc	p.S156T	GPR56_ENST00000567835.1_Missense_Mutation_p.S156T|GPR56_ENST00000379696.3_Missense_Mutation_p.S156T|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000562558.1_Missense_Mutation_p.S156T|GPR56_ENST00000568909.1_Missense_Mutation_p.S156T|GPR56_ENST00000456916.1_Missense_Mutation_p.S156T|GPR56_ENST00000540164.2_Missense_Mutation_p.S156T|GPR56_ENST00000538815.1_Missense_Mutation_p.S156T|GPR56_ENST00000544297.1_5'UTR|GPR56_ENST00000568908.1_Missense_Mutation_p.S156T|GPR56_ENST00000388813.5_Missense_Mutation_p.S156T|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000562631.1_Missense_Mutation_p.S156T			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	156					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						AGTGCCGCCAGCTTCACCTTC	0.607																																					p.S161T		.											.	GPR56	90	0			c.G482C						.						28.0	28.0	28.0					16																	57685514		2198	4300	6498	SO:0001583	missense	9289	exon3			CCGCCAGCTTCAC	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.467G>C	16.37:g.57685514G>C	ENSP00000373464:p.Ser156Thr	55.0	1.0		55.0	20.0	NM_001145773	A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	ENST00000388812.4	37	CCDS32460.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.396413	0.01175	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000379696	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	5.21	0.666	0.17901	.	1.044460	0.07536	N	0.913024	T	0.27489	0.0675	L	0.36672	1.1	0.24444	N	0.994512	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.26849	-1.0091	10	0.15066	T	0.55	.	3.5307	0.07775	0.165:0.1337:0.5641:0.1371	.	161;156;156	B4DR54;Q9Y653-2;Q9Y653	.;.;GPR56_HUMAN	T	156	ENSP00000373465:S156T;ENSP00000373464:S156T;ENSP00000444415:S156T;ENSP00000398034:S156T;ENSP00000444911:S156T;ENSP00000369018:S156T	ENSP00000369018:S156T	S	+	2	0	GPR56	56243015	0.001000	0.12720	0.255000	0.24374	0.033000	0.12548	-0.006000	0.12833	0.188000	0.20168	-0.907000	0.02831	AGC	.		0.607	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3		
HECTD4	283450	ucsc.edu;bcgsc.ca	37	12	112622701	112622701	+	Missense_Mutation	SNP	C	C	G			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr12:112622701C>G	ENST00000430131.2	-	60	9948	c.8803G>C	c.(8803-8805)Gca>Cca	p.A2935P	HECTD4_ENST00000377560.5_Missense_Mutation_p.A3185P|HECTD4_ENST00000550722.1_Missense_Mutation_p.A3211P			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2935					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AGGGTGAGTGCGCGGTGGAAC	0.677																																					p.A3223P		.											.	.	.	0			c.G9667C						.						57.0	66.0	63.0					12																	112622701		2200	4294	6494	SO:0001583	missense	283450	exon61			TGAGTGCGCGGTG	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.8803G>C	12.37:g.112622701C>G	ENSP00000404379:p.Ala2935Pro	61.0	2.0		59.0	28.0	NM_001109662	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	C	16.84	3.233171	0.58777	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.57436	0.41;0.42;0.4	5.81	5.81	0.92471	.	.	.	.	.	T	0.50803	0.1637	N	0.19112	0.55	0.50313	D	0.99986	P	0.52842	0.956	P	0.49085	0.6	T	0.55909	-0.8066	9	0.87932	D	0	.	20.0858	0.97800	0.0:1.0:0.0:0.0	.	2935	Q9Y4D8	K0614_HUMAN	P	3185;2935;3211	ENSP00000366783:A3185P;ENSP00000404379:A2935P;ENSP00000449784:A3211P	ENSP00000366783:A3185P	A	-	1	0	C12orf51	111107084	1.000000	0.71417	0.211000	0.23655	0.840000	0.47671	5.417000	0.66423	2.753000	0.94483	0.650000	0.86243	GCA	.		0.677	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813	
HYOU1	10525	broad.mit.edu;bcgsc.ca	37	11	118925964	118925964	+	Missense_Mutation	SNP	C	C	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr11:118925964C>T	ENST00000404233.3	-	5	476	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	HYOU1_ENST00000525859.1_Missense_Mutation_p.A118T|HYOU1_ENST00000529972.1_Missense_Mutation_p.A118T|HYOU1_ENST00000543287.1_Missense_Mutation_p.A31T	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	118					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GGGAAGCGGGCCTGGTAAAGA	0.567																																					p.A118T		.											.	HYOU1	90	0			c.G352A						.						135.0	135.0	135.0					11																	118925964		2200	4295	6495	SO:0001583	missense	10525	exon5			AGCGGGCCTGGTA	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.352G>A	11.37:g.118925964C>T	ENSP00000384144:p.Ala118Thr	111.0	0.0		78.0	5.0	NM_006389	A8C1Z0|B7Z909|Q2I204|Q53H25	Missense_Mutation	SNP	ENST00000404233.3	37	CCDS8408.1	.	.	.	.	.	.	.	.	.	.	C	8.710	0.911850	0.17907	.	.	ENSG00000149428	ENST00000404233;ENST00000353883;ENST00000541069;ENST00000529972;ENST00000536103;ENST00000525859;ENST00000544701;ENST00000543287;ENST00000530473	T;T;T;T;T	0.00976	5.48;5.48;5.48;5.48;5.48	5.55	-0.918	0.10482	.	0.500423	0.23500	N	0.047516	T	0.00666	0.0022	N	0.20807	0.61	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.47341	-0.9125	10	0.52906	T	0.07	-1.1468	4.9706	0.14113	0.2695:0.3894:0.0:0.3411	.	162;118;118	B7Z2N4;Q9Y4L1;A8C1Z0	.;HYOU1_HUMAN;.	T	118;109;118;118;118;118;161;31;118	ENSP00000384144:A118T;ENSP00000437313:A118T;ENSP00000433397:A118T;ENSP00000442727:A31T;ENSP00000431874:A118T	ENSP00000278752:A109T	A	-	1	0	HYOU1	118431174	0.075000	0.21258	0.003000	0.11579	0.081000	0.17604	0.440000	0.21592	0.013000	0.14918	0.561000	0.74099	GCC	.		0.567	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389	
HEPACAM	220296	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	124794662	124794662	+	Missense_Mutation	SNP	G	G	C			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr11:124794662G>C	ENST00000298251.4	-	2	794	c.389C>G	c.(388-390)aCc>aGc	p.T130S		NM_152722.4	NP_689935.2			hepatic and glial cell adhesion molecule											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CCCAGTGAAGGTGTCGTCGGT	0.562																																					p.T130S		.											.	HEPACAM	91	0			c.C389G						.						201.0	190.0	193.0					11																	124794662		2201	4299	6500	SO:0001583	missense	220296	exon2			GTGAAGGTGTCGT	AK098396	CCDS8456.1	11q24.2	2013-01-29	2011-02-11		ENSG00000165478	ENSG00000165478		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26361	protein-coding gene	gene with protein product	"""glial cell adhesion molecule"""	611642	"""hepatocyte cell adhesion molecule"""			15885354, 15917256	Standard	NM_152722		Approved	FLJ25530, hepaCAM, GLIALCAM	uc001qbk.3	Q14CZ8	OTTHUMG00000165938	ENST00000298251.4:c.389C>G	11.37:g.124794662G>C	ENSP00000298251:p.Thr130Ser	64.0	0.0		34.0	13.0	NM_152722		Missense_Mutation	SNP	ENST00000298251.4	37	CCDS8456.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288620	0.80914	.	.	ENSG00000165478	ENST00000298251;ENST00000374961	T	0.65178	-0.14	5.97	5.97	0.96955	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.041711	0.85682	D	0.000000	T	0.65396	0.2687	L	0.41027	1.25	0.51482	D	0.999922	P;D	0.52996	0.845;0.957	P;P	0.50490	0.55;0.642	T	0.60042	-0.7340	10	0.32370	T	0.25	-34.4757	20.428	0.99075	0.0:0.0:1.0:0.0	.	130;130	Q14CZ8-2;Q14CZ8	.;HECAM_HUMAN	S	130	ENSP00000298251:T130S	ENSP00000298251:T130S	T	-	2	0	HEPACAM	124299872	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.581000	0.67471	2.837000	0.97791	0.655000	0.94253	ACC	.		0.562	HEPACAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387125.1	NM_152722	
IL16	3603	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	81593848	81593848	+	Missense_Mutation	SNP	T	T	G			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr15:81593848T>G	ENST00000302987.4	+	14	3313	c.3313T>G	c.(3313-3315)Tta>Gta	p.L1105V	IL16_ENST00000394652.2_Missense_Mutation_p.L404V|RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394660.2_Missense_Mutation_p.L1105V			Q14005	IL16_HUMAN	interleukin 16	1105	Interaction with HTLV-1 tax.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGAAGCAACATTAAAGGTAGG	0.473																																					p.L1105V		.											.	IL16	653	0			c.T3313G						.						95.0	93.0	94.0					15																	81593848		2203	4300	6503	SO:0001583	missense	3603	exon15			GCAACATTAAAGG	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3313T>G	15.37:g.81593848T>G	ENSP00000302935:p.Leu1105Val	56.0	0.0		63.0	19.0	NM_001172128	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	T	10.34	1.323405	0.24080	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.13307	2.6;2.61;3.24	4.87	-3.11	0.05299	PDZ/DHR/GLGF (1);	0.000000	0.30565	N	0.009356	T	0.21962	0.0529	L	0.36672	1.1	0.32316	N	0.563122	D;D;D;P;D;B	0.63880	0.983;0.993;0.981;0.843;0.977;0.152	D;D;P;D;D;P	0.83275	0.986;0.996;0.727;0.956;0.985;0.558	T	0.03662	-1.1015	10	0.59425	D	0.04	.	12.1584	0.54091	0.0:0.5327:0.0:0.4673	.	937;598;642;495;1105;1105	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	V	1105;937;1105;642;495;404;404	ENSP00000378155:L1105V;ENSP00000302935:L1105V;ENSP00000378147:L404V	ENSP00000302935:L1105V	L	+	1	2	IL16	79380903	0.007000	0.16637	0.001000	0.08648	0.141000	0.21300	-0.021000	0.12504	-0.667000	0.05303	0.459000	0.35465	TTA	.		0.473	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217	
IRX2	153572	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	5	2751518	2751518	+	Missense_Mutation	SNP	G	G	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr5:2751518G>T	ENST00000382611.6	-	1	258	c.10C>A	c.(10-12)Ccg>Acg	p.P4T	C5orf38_ENST00000505778.1_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.P4T|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000457752.2_5'Flank|IRX2_ENST00000502957.1_Intron|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000515640.1_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	4					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TAGCCCTGCGGGTAGGACATG	0.801																																					p.P4T		.											.	IRX2	226	0			c.C10A						.						2.0	2.0	2.0					5																	2751518		1323	2902	4225	SO:0001583	missense	153572	exon1			CCTGCGGGTAGGA	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.10C>A	5.37:g.2751518G>T	ENSP00000372056:p.Pro4Thr	32.0	0.0		23.0	10.0	NM_001134222	Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.788514	0.49997	.	.	ENSG00000170561	ENST00000382611;ENST00000302057	D;D	0.87256	-2.23;-2.23	3.23	2.34	0.29019	.	0.061211	0.64402	U	0.000002	D	0.91680	0.7370	M	0.76574	2.34	0.58432	D	0.999994	D	0.89917	1.0	D	0.69307	0.963	D	0.91658	0.5340	10	0.87932	D	0	-20.0605	11.948	0.52938	0.0:0.0:0.8245:0.1755	.	4	Q9BZI1	IRX2_HUMAN	T	4	ENSP00000372056:P4T;ENSP00000307006:P4T	ENSP00000307006:P4T	P	-	1	0	IRX2	2804518	1.000000	0.71417	0.996000	0.52242	0.965000	0.64279	7.723000	0.84788	0.716000	0.32124	0.289000	0.19496	CCG	.		0.801	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2		
ITGAD	3681	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	16	31414896	31414896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr16:31414896C>T	ENST00000389202.2	+	7	683	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	RP11-120K18.2_ENST00000567545.1_RNA	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	212	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCCGAGCCAGCAGAGCCTGGT	0.602																																					p.Q212X		.											.	ITGAD	226	0			c.C634T						.						107.0	86.0	93.0					16																	31414896		2197	4300	6497	SO:0001587	stop_gained	3681	exon7			AGCCAGCAGAGCC	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.634C>T	16.37:g.31414896C>T	ENSP00000373854:p.Gln212*	62.0	0.0		76.0	27.0	NM_005353	Q15575|Q15576	Nonsense_Mutation	SNP	ENST00000389202.2	37	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223352	0.58668	.	.	ENSG00000156886	ENST00000316569;ENST00000444228;ENST00000389202	.	.	.	4.69	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	7.1887	0.25814	0.1785:0.625:0.1964:0.0	.	.	.	.	X	76;228;212	.	ENSP00000323325:Q76X	Q	+	1	0	ITGAD	31322397	0.000000	0.05858	0.227000	0.23927	0.034000	0.12701	0.172000	0.16704	2.430000	0.82344	0.503000	0.49774	CAG	.		0.602	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353	
LAMA1	284217	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	6985309	6985309	+	Missense_Mutation	SNP	T	T	A	rs532071998		TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr18:6985309T>A	ENST00000389658.3	-	39	5680	c.5587A>T	c.(5587-5589)Aac>Tac	p.N1863Y		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1863	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TCGACTGCGTTCCTTTGGGAC	0.502													T|||	1	0.000199681	0.0	0.0	5008	,	,		19017	0.0		0.001	False		,,,				2504	0.0				p.N1863Y		.											.	LAMA1	149	0			c.A5587T						.						200.0	167.0	178.0					18																	6985309		2203	4300	6503	SO:0001583	missense	284217	exon39			CTGCGTTCCTTTG	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.5587A>T	18.37:g.6985309T>A	ENSP00000374309:p.Asn1863Tyr	77.0	1.0		71.0	23.0	NM_005559		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	8.741	0.918878	0.17982	.	.	ENSG00000101680	ENST00000389658	T	0.17691	2.26	5.58	4.45	0.53987	.	0.588755	0.18121	N	0.151051	T	0.07908	0.0198	N	0.08118	0	0.21652	N	0.999602	B	0.27316	0.175	B	0.27608	0.081	T	0.13019	-1.0525	10	0.54805	T	0.06	.	3.4596	0.07528	0.0:0.2468:0.0:0.7532	.	1863	P25391	LAMA1_HUMAN	Y	1863	ENSP00000374309:N1863Y	ENSP00000374309:N1863Y	N	-	1	0	LAMA1	6975309	0.060000	0.20803	0.009000	0.14445	0.017000	0.09413	2.165000	0.42396	2.126000	0.65437	0.533000	0.62120	AAC	.		0.502	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
LCE4A	199834	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	152681721	152681721	+	Missense_Mutation	SNP	G	G	A			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr1:152681721G>A	ENST00000368777.1	+	2	426	c.170G>A	c.(169-171)gGc>gAc	p.G57D	LCE4A_ENST00000335535.3_Missense_Mutation_p.G57D			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	57	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			GAGGGAGGTGGCTGCTGCCTG	0.592																																					p.G57D		.											.	LCE4A	90	0			c.G170A						.						60.0	70.0	67.0					1																	152681721		2203	4300	6503	SO:0001583	missense	199834	exon1			GAGGTGGCTGCTG	BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	ENST00000368777.1:c.170G>A	1.37:g.152681721G>A	ENSP00000357766:p.Gly57Asp	82.0	1.0		118.0	32.0	NM_178356	Q14D97	Missense_Mutation	SNP	ENST00000368777.1	37	CCDS1022.1	.	.	.	.	.	.	.	.	.	.	G	9.772	1.173076	0.21704	.	.	ENSG00000187170	ENST00000368777;ENST00000335535	T;T	0.05649	3.41;3.41	4.64	3.71	0.42584	.	.	.	.	.	T	0.10852	0.0265	.	.	.	0.23716	N	0.997032	D	0.76494	0.999	D	0.72982	0.979	T	0.07986	-1.0744	8	0.87932	D	0	.	10.1028	0.42515	0.0:0.0:0.7995:0.2005	.	57	Q5TA78	LCE4A_HUMAN	D	57	ENSP00000357766:G57D;ENSP00000335223:G57D	ENSP00000335223:G57D	G	+	2	0	LCE4A	150948345	0.876000	0.30132	0.925000	0.36789	0.697000	0.40408	1.047000	0.30367	0.899000	0.36444	0.313000	0.20887	GGC	.		0.592	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356	
LILRB1	10859	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	55148029	55148029	+	Missense_Mutation	SNP	C	C	T	rs370268778		TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr19:55148029C>T	ENST00000396331.1	+	15	2089	c.1732C>T	c.(1732-1734)Cct>Tct	p.P578S	LILRB1_ENST00000396332.4_Missense_Mutation_p.P579S|LILRB1_ENST00000396315.1_Missense_Mutation_p.P580S|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_Missense_Mutation_p.P578S|LILRB1_ENST00000396317.1_Missense_Mutation_p.P562S|LILRB1_ENST00000427581.2_Missense_Mutation_p.P629S|LILRB1_ENST00000324602.7_Missense_Mutation_p.P580S|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000434867.2_Missense_Mutation_p.P578S|LILRB1_ENST00000396327.3_Missense_Mutation_p.P579S|LILRB1_ENST00000418536.2_Missense_Mutation_p.P562S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	578					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGCCTCTCCTCCTTCCCCACT	0.582										HNSCC(37;0.09)																											p.P580S		.											.	LILRB1	137	0			c.C1738T						.						112.0	96.0	101.0					19																	55148029		2201	4298	6499	SO:0001583	missense	10859	exon14			TCTCCTCCTTCCC	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1732C>T	19.37:g.55148029C>T	ENSP00000379622:p.Pro578Ser	134.0	0.0		122.0	10.0	NM_001081637	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	7.396	0.631747	0.14322	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T	0.00518	7.0;6.92;7.0;7.03;6.99;7.0;7.02;6.86;6.92;6.99	1.59	0.511	0.16989	.	.	.	.	.	T	0.01124	0.0037	M	0.82323	2.585	0.09310	N	1	B;D;B;P;D	0.63046	0.411;0.992;0.339;0.882;0.964	B;P;B;P;P	0.58928	0.055;0.848;0.035;0.528;0.601	T	0.47328	-0.9126	9	0.52906	T	0.07	.	3.7747	0.08656	0.0:0.7538:0.0:0.2462	.	562;580;579;579;578	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	S	578;562;578;579;580;578;579;629;562;580	ENSP00000379614:P578S;ENSP00000391514:P562S;ENSP00000379622:P578S;ENSP00000379618:P579S;ENSP00000315997:P580S;ENSP00000405243:P578S;ENSP00000379623:P579S;ENSP00000395004:P629S;ENSP00000379610:P562S;ENSP00000379608:P580S	ENSP00000315997:P580S	P	+	1	0	LILRB1	59839841	0.003000	0.15002	0.001000	0.08648	0.091000	0.18340	0.942000	0.29017	0.254000	0.21573	0.194000	0.17425	CCT	.		0.582	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4		
MAGEE1	57692	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	75648383	75648383	+	Silent	SNP	G	G	A			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chrX:75648383G>A	ENST00000361470.2	+	1	338	c.60G>A	c.(58-60)gcG>gcA	p.A20A		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	20						dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AGGCTACTGCGCACAACAGCA	0.662																																					p.A20A		.											.	MAGEE1	262	0			c.G60A						.						16.0	17.0	17.0					X																	75648383		2199	4289	6488	SO:0001819	synonymous_variant	57692	exon1			TACTGCGCACAAC	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.60G>A	X.37:g.75648383G>A		152.0	0.0		138.0	15.0	NM_020932	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	ENST00000361470.2	37	CCDS14433.1																																																																																			.		0.662	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932	
MRGPRX3	117195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	18159634	18159634	+	Silent	SNP	G	G	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr11:18159634G>T	ENST00000396275.2	+	3	1246	c.885G>T	c.(883-885)ctG>ctT	p.L295L		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AGAGGGCTCTGCAGGACACGC	0.557																																					p.L295L		.											.	MRGPRX3	92	0			c.G885T						.																																			SO:0001819	synonymous_variant	117195	exon3			GGCTCTGCAGGAC		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.885G>T	11.37:g.18159634G>T		51.0	0.0		53.0	19.0	NM_054031	B0M0L1|Q8TDE0|Q8TDE1	Silent	SNP	ENST00000396275.2	37	CCDS7830.1																																																																																			.		0.557	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031	
NCKAP5L	57701	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	50186524	50186524	+	Missense_Mutation	SNP	G	G	A			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr12:50186524G>A	ENST00000335999.6	-	11	3787	c.3586C>T	c.(3586-3588)Cca>Tca	p.P1196S		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1192	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGGAAGGCTGGCATGCTGGGG	0.697																																					p.P1196S		.											.	NCKAP5L	68	0			c.C3586T						.						11.0	14.0	13.0					12																	50186524		2166	4266	6432	SO:0001583	missense	57701	exon11			AGGCTGGCATGCT	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.3586C>T	12.37:g.50186524G>A	ENSP00000337998:p.Pro1196Ser	57.0	0.0		96.0	29.0	NM_001037806	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	CCDS41781.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.94|16.94	3.259505|3.259505	0.59321|0.59321	.|.	.|.	ENSG00000167566|ENSG00000167566	ENST00000433948|ENST00000335999;ENST00000354423	.|T	.|0.46451	.|0.87	4.3|4.3	4.3|4.3	0.51218|0.51218	.|.	.|0.000000	.|0.43260	.|D	.|0.000592	T|T	0.36880|0.36880	0.0983|0.0983	L|L	0.40543|0.40543	1.245|1.245	0.37241|0.37241	D|D	0.906101|0.906101	.|P;P;P	.|0.41393	.|0.748;0.518;0.748	.|B;B;B	.|0.43225	.|0.412;0.33;0.412	T|T	0.24977|0.24977	-1.0145|-1.0145	5|10	.|0.18276	.|T	.|0.48	-11.7271|-11.7271	14.1922|14.1922	0.65646|0.65646	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1170;1192;1192	.|E2QRB5;Q9HCH0;Q9HCH0-2	.|.;NCK5L_HUMAN;.	V|S	910|1196;1170	.|ENSP00000337998:P1196S	.|ENSP00000337998:P1196S	A|P	-|-	2|1	0|0	NCKAP5L|NCKAP5L	48472791|48472791	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.988000|0.988000	0.76386|0.76386	5.348000|5.348000	0.66004|0.66004	2.420000|2.420000	0.82092|0.82092	0.561000|0.561000	0.74099|0.74099	GCC|CCA	.		0.697	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497	
NIPBL	25836	broad.mit.edu;ucsc.edu	37	5	36976361	36976361	+	Missense_Mutation	SNP	C	C	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr5:36976361C>T	ENST00000282516.8	+	9	1851	c.1352C>T	c.(1351-1353)tCt>tTt	p.S451F	NIPBL_ENST00000448238.2_Missense_Mutation_p.S451F|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	451	Gln-rich.				brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CCCCAGACTTCTGTGGTACAG	0.413																																					p.S451F		.											.	NIPBL	293	0			c.C1352T						.						85.0	85.0	85.0					5																	36976361		2203	4300	6503	SO:0001583	missense	25836	exon9			AGACTTCTGTGGT	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1352C>T	5.37:g.36976361C>T	ENSP00000282516:p.Ser451Phe	55.0	2.0		52.0	13.0	NM_015384	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071785	0.36566	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.93811	-3.29;-3.29	5.58	4.69	0.59074	.	0.060918	0.64402	D	0.000002	D	0.85923	0.5810	N	0.19112	0.55	0.31282	N	0.690439	B;B	0.32467	0.119;0.372	B;B	0.27715	0.037;0.082	D	0.85330	0.1089	10	0.56958	D	0.05	.	9.8011	0.40764	0.0:0.7858:0.1413:0.073	.	451;451	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	F	451	ENSP00000282516:S451F;ENSP00000406266:S451F	ENSP00000282516:S451F	S	+	2	0	NIPBL	37012118	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.060000	0.57477	1.330000	0.45394	0.460000	0.39030	TCT	.		0.413	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384	
NOA1	84273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	57842963	57842963	+	Silent	SNP	C	C	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr4:57842963C>T	ENST00000264230.4	-	1	2026	c.789G>A	c.(787-789)agG>agA	p.R263R	POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000381227.1_5'Flank|POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000441246.2_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	263	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										GCTCCCGCAGCCTCTGCCGGT	0.701																																					p.R263R		.											.	.	.	0			c.G789A						.						28.0	34.0	32.0					4																	57842963		2195	4279	6474	SO:0001819	synonymous_variant	84273	exon1			CCGCAGCCTCTGC	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.789G>A	4.37:g.57842963C>T		84.0	0.0		64.0	10.0	NM_032313	Q8N7L6|Q9BSQ9	Silent	SNP	ENST00000264230.4	37	CCDS3510.1																																																																																			.		0.701	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2	NM_032313	
NUP93	9688	broad.mit.edu;mdanderson.org	37	16	56870513	56870513	+	Splice_Site	SNP	C	C	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr16:56870513C>T	ENST00000308159.5	+	17	1904	c.1783C>T	c.(1783-1785)Cct>Tct	p.P595S	NUP93_ENST00000542526.1_Splice_Site_p.P472S|NUP93_ENST00000569842.1_Splice_Site_p.P595S|NUP93_ENST00000564887.1_Splice_Site_p.P472S	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	595					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GTCTTGTCAGCCTGGAGTCAT	0.398																																					p.P595S	Colon(33;610 796 1305 1705 38917)	.											.	NUP93	205	0			c.C1783T						.						124.0	123.0	123.0					16																	56870513		2198	4300	6498	SO:0001630	splice_region_variant	9688	exon17			TGTCAGCCTGGAG	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.1783-1C>T	16.37:g.56870513C>T		47.0	0.0		33.0	4.0	NM_014669	B3KPQ8|Q14705	Missense_Mutation	SNP	ENST00000308159.5	37	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430143	0.83776	.	.	ENSG00000102900	ENST00000308159;ENST00000542526	T;T	0.46819	0.86;0.86	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.46367	0.1389	L	0.50333	1.59	0.80722	D	1	B	0.31383	0.321	B	0.31869	0.137	T	0.32402	-0.9908	9	.	.	.	-10.4362	19.558	0.95361	0.0:1.0:0.0:0.0	.	595	Q8N1F7	NUP93_HUMAN	S	595;472	ENSP00000310668:P595S;ENSP00000440235:P472S	.	P	+	1	0	NUP93	55428014	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.421000	0.80204	2.697000	0.92050	0.655000	0.94253	CCT	.		0.398	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669	Missense_Mutation
NOB1	28987	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	69776359	69776359	+	Missense_Mutation	SNP	G	G	A			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr16:69776359G>A	ENST00000268802.5	-	9	1144	c.1115C>T	c.(1114-1116)cCc>cTc	p.P372L	CTD-2033A16.3_ENST00000575838.1_RNA	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	372					visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CTCGACAAAGGGTGACACCCC	0.597																																					p.P372L		.											.	NOB1	90	0			c.C1115T						.						60.0	59.0	59.0					16																	69776359		2198	4300	6498	SO:0001583	missense	28987	exon9			ACAAAGGGTGACA	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.1115C>T	16.37:g.69776359G>A	ENSP00000268802:p.Pro372Leu	117.0	1.0		80.0	6.0	NM_014062	Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Missense_Mutation	SNP	ENST00000268802.5	37	CCDS10884.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403111	0.62288	.	.	ENSG00000141101	ENST00000268802	T	0.32988	1.43	4.39	4.39	0.52855	.	0.051834	0.85682	N	0.000000	T	0.54711	0.1875	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.56402	-0.7985	9	.	.	.	.	17.5171	0.87777	0.0:0.0:1.0:0.0	.	372	Q9ULX3	NOB1_HUMAN	L	372	ENSP00000268802:P372L	.	P	-	2	0	NOB1	68333860	1.000000	0.71417	0.997000	0.53966	0.011000	0.07611	9.134000	0.94467	2.417000	0.82017	0.655000	0.94253	CCC	.		0.597	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062	
OR5T2	219464	ucsc.edu;bcgsc.ca	37	11	56000549	56000549	+	Missense_Mutation	SNP	A	A	G			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr11:56000549A>G	ENST00000313264.4	-	1	188	c.113T>C	c.(112-114)cTa>cCa	p.L38P		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GTTGAAATCTAGAACAAACTT	0.348																																					p.L38P		.											.	OR5T2	70	0			c.T113C						.						75.0	67.0	70.0					11																	56000549		2201	4295	6496	SO:0001583	missense	219464	exon1			AAATCTAGAACAA	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.113T>C	11.37:g.56000549A>G	ENSP00000323688:p.Leu38Pro	103.0	2.0		86.0	37.0	NM_001004746	B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	A	9.785	1.176299	0.21704	.	.	ENSG00000181718	ENST00000313264	T	0.00691	5.84	2.77	-0.804	0.10882	.	.	.	.	.	T	0.00412	0.0013	N	0.08118	0	0.09310	N	0.999999	P	0.39964	0.697	B	0.28784	0.094	T	0.51379	-0.8713	9	0.30078	T	0.28	.	6.7319	0.23388	0.4424:0.0:0.5576:0.0	.	38	Q8NGG2	OR5T2_HUMAN	P	38	ENSP00000323688:L38P	ENSP00000323688:L38P	L	-	2	0	OR5T2	55757125	0.828000	0.29307	0.000000	0.03702	0.526000	0.34562	0.281000	0.18810	-0.145000	0.11294	0.375000	0.23000	CTA	.		0.348	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746	
OMP	4975	broad.mit.edu;bcgsc.ca;mdanderson.org	37	11	76814313	76814313	+	Missense_Mutation	SNP	T	T	C			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr11:76814313T>C	ENST00000529803.1	+	1	428	c.428T>C	c.(427-429)gTc>gCc	p.V143A	CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	143					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TACTTCCTCGTCACCTTTGGC	0.607																																					p.V143A		.											.	.	.	0			c.T428C						.						60.0	66.0	64.0					11																	76814313		2008	4165	6173	SO:0001583	missense	4975	exon1			TCCTCGTCACCTT	U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.428T>C	11.37:g.76814313T>C	ENSP00000436376:p.Val143Ala	48.0	1.0		43.0	12.0	NM_006189	Q562G2	Missense_Mutation	SNP	ENST00000529803.1	37	CCDS53682.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.222742	0.58668	.	.	ENSG00000254550	ENST00000529803	T	0.32753	1.44	5.29	5.29	0.74685	.	.	.	.	.	T	0.19927	0.0479	N	0.08118	0	0.22081	N	0.999379	B	0.14438	0.01	B	0.15870	0.014	T	0.20974	-1.0259	9	0.72032	D	0.01	.	14.552	0.68073	0.0:0.0:0.0:1.0	.	143	P47874	OMP_HUMAN	A	143	ENSP00000436376:V143A	ENSP00000436376:V143A	V	+	2	0	OMP	76491961	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.397000	0.79903	2.225000	0.72522	0.379000	0.24179	GTC	.		0.607	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	NM_006189	
OR6M1	390261	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	123676932	123676932	+	Silent	SNP	G	G	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr11:123676932G>T	ENST00000309154.2	-	1	163	c.126C>A	c.(124-126)acC>acA	p.T42T		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GGGAGATGATGGTGATGTTTC	0.413																																					p.T42T		.											.	OR6M1	70	0			c.C126A						.						155.0	134.0	141.0					11																	123676932		2202	4299	6501	SO:0001819	synonymous_variant	390261	exon1			GATGATGGTGATG	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.126C>A	11.37:g.123676932G>T		129.0	0.0		100.0	15.0	NM_001005325	B2RNK0|Q6IEW9|Q96R37	Silent	SNP	ENST00000309154.2	37	CCDS31696.1																																																																																			.		0.413	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325	
OS9	10956	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	58087958	58087958	+	Missense_Mutation	SNP	C	C	T	rs150848860	byFrequency	TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr12:58087958C>T	ENST00000315970.7	+	1	55	c.14C>T	c.(13-15)aCg>aTg	p.T5M	OS9_ENST00000257966.8_Missense_Mutation_p.T5M|OS9_ENST00000435406.2_Missense_Mutation_p.T5M|OS9_ENST00000389142.5_Missense_Mutation_p.T5M|OS9_ENST00000389146.6_Missense_Mutation_p.T5M|OS9_ENST00000439210.2_Missense_Mutation_p.T5M|OS9_ENST00000551035.1_Missense_Mutation_p.T5M|OS9_ENST00000552285.1_Missense_Mutation_p.T5M|OS9_ENST00000413095.2_Missense_Mutation_p.T5M|RP11-571M6.7_ENST00000549477.1_RNA	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	5					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GCGGCGGAAACGCTGCTGTCC	0.582																																					p.T5M		.											.	OS9	493	0			c.C14T						.						139.0	138.0	138.0					12																	58087958		2203	4300	6503	SO:0001583	missense	10956	exon1			CGGAAACGCTGCT	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.14C>T	12.37:g.58087958C>T	ENSP00000318165:p.Thr5Met	80.0	0.0		124.0	32.0	NM_001261423	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	CCDS31843.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.239248	0.39598	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000547079;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000550372;ENST00000389142	T;T;T;T;T;T;T;T;T;T	0.46451	1.87;1.87;0.87;1.86;1.87;1.46;1.88;1.87;1.87;1.87	5.0	0.892	0.19230	.	0.694322	0.14596	N	0.309924	T	0.19406	0.0466	N	0.08118	0	0.19300	N	0.999973	B;B;B;D;D;P;P;P	0.59767	0.007;0.029;0.002;0.957;0.986;0.834;0.798;0.834	B;B;B;P;B;B;B;B	0.44811	0.004;0.01;0.002;0.461;0.425;0.272;0.212;0.182	T	0.08046	-1.0741	10	0.38643	T	0.18	-1.205	1.4232	0.02317	0.1516:0.4555:0.1473:0.2455	.	5;5;5;5;5;5;5;5	E7EW91;F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;.;OS9_HUMAN	M	5	ENSP00000450010:T5M;ENSP00000318165:T5M;ENSP00000447031:T5M;ENSP00000407360:T5M;ENSP00000373798:T5M;ENSP00000413112:T5M;ENSP00000447866:T5M;ENSP00000257966:T5M;ENSP00000389632:T5M;ENSP00000373794:T5M	ENSP00000257966:T5M	T	+	2	0	OS9	56374225	0.002000	0.14202	0.919000	0.36401	0.865000	0.49528	0.151000	0.16283	0.061000	0.16311	0.563000	0.77884	ACG	C|0.997;G|0.003		0.582	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812	
PDCD7	10081	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	65411134	65411134	+	Missense_Mutation	SNP	C	C	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr15:65411134C>T	ENST00000204549.4	-	5	1433	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	460					apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of T cell apoptotic process (GO:0070234)|response to glucocorticoid (GO:0051384)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						AACGAAGTTGCCTTTGGGATG	0.453																																					p.G460D		.											.	PDCD7	227	0			c.G1379A						.						90.0	80.0	83.0					15																	65411134		2202	4299	6501	SO:0001583	missense	10081	exon5			AAGTTGCCTTTGG	AF083930	CCDS10201.1	15q22.2	2012-06-07			ENSG00000090470	ENSG00000090470			8767	protein-coding gene	gene with protein product	"""U11/U12 snRNP 59K"""	608138				10037816	Standard	NM_005707		Approved	HES18, ES18	uc002aol.3	Q8N8D1	OTTHUMG00000133117	ENST00000204549.4:c.1379G>A	15.37:g.65411134C>T	ENSP00000204549:p.Gly460Asp	73.0	1.0		80.0	37.0	NM_005707	Q96AK8|Q9Y6D7	Missense_Mutation	SNP	ENST00000204549.4	37	CCDS10201.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574997	0.86542	.	.	ENSG00000090470	ENST00000204549;ENST00000431964;ENST00000380204	.	.	.	6.17	5.21	0.72293	.	0.165840	0.38436	N	0.001699	T	0.76350	0.3975	M	0.64997	1.995	0.41971	D	0.990757	D	0.67145	0.996	D	0.66497	0.944	T	0.77755	-0.2469	9	0.72032	D	0.01	-8.8216	17.9272	0.88987	0.0:0.7909:0.2091:0.0	.	460	Q8N8D1	PDCD7_HUMAN	D	460;245;254	.	ENSP00000204549:G460D	G	-	2	0	PDCD7	63198187	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.588000	0.53964	2.941000	0.99782	0.655000	0.94253	GGC	.		0.453	PDCD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256784.2	NM_005707	
PHACTR3	116154	broad.mit.edu;ucsc.edu;mdanderson.org	37	20	58349512	58349512	+	Missense_Mutation	SNP	G	G	A			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr20:58349512G>A	ENST00000371015.1	+	7	1608	c.1141G>A	c.(1141-1143)Gac>Aac	p.D381N	PHACTR3_ENST00000541461.1_Missense_Mutation_p.D340N|PHACTR3_ENST00000355648.4_Missense_Mutation_p.D340N|PHACTR3_ENST00000359926.3_Missense_Mutation_p.D378N|PHACTR3_ENST00000395639.4_Missense_Mutation_p.D270N|PHACTR3_ENST00000361300.4_Missense_Mutation_p.D270N|PHACTR3_ENST00000395636.2_Missense_Mutation_p.D340N	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	381						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TTTGTATCAGGACGAGGAGGC	0.502																																					p.D381N		.											.	PHACTR3	93	0			c.G1141A						.						133.0	136.0	135.0					20																	58349512		2203	4300	6503	SO:0001583	missense	116154	exon7			TATCAGGACGAGG	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1141G>A	20.37:g.58349512G>A	ENSP00000360054:p.Asp381Asn	76.0	1.0		54.0	7.0	NM_080672	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.004010	0.74932	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.38722	1.35;1.34;1.12;1.39;1.39;1.39;1.12	5.06	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.62792	0.2457	M	0.74258	2.255	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.978;0.968	T	0.66368	-0.5941	10	0.72032	D	0.01	-22.4587	12.2084	0.54365	0.0818:0.0:0.9182:0.0	.	270;381;378	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	N	378;381;270;340;340;340;270	ENSP00000353002:D378N;ENSP00000360054:D381N;ENSP00000379001:D270N;ENSP00000442483:D340N;ENSP00000347866:D340N;ENSP00000378998:D340N;ENSP00000354555:D270N	ENSP00000347866:D340N	D	+	1	0	PHACTR3	57782907	1.000000	0.71417	0.976000	0.42696	0.599000	0.36880	6.774000	0.75012	1.117000	0.41842	0.655000	0.94253	GAC	.		0.502	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672	
PLCH1	23007	broad.mit.edu;bcgsc.ca	37	3	155200721	155200721	+	Missense_Mutation	SNP	C	C	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr3:155200721C>T	ENST00000340059.7	-	23	3117	c.3118G>A	c.(3118-3120)Ggg>Agg	p.G1040R	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000460012.1_Missense_Mutation_p.G1002R|PLCH1_ENST00000414191.1_Missense_Mutation_p.G1002R|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.G1002R|PLCH1-AS2_ENST00000472913.1_RNA	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1040					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATGGTGTCCCCTTGGCTGGTA	0.448																																					p.G1040R		.											.	PLCH1	151	0			c.G3118A						.						157.0	153.0	154.0					3																	155200721		2203	4300	6503	SO:0001583	missense	23007	exon23			TGTCCCCTTGGCT	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3118G>A	3.37:g.155200721C>T	ENSP00000345988:p.Gly1040Arg	104.0	1.0		106.0	7.0	NM_001130960	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	1.524	-0.546037	0.04024	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	5.57	1.68	0.24146	.	1.417470	0.03899	N	0.280049	T	0.12135	0.0295	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.28106	-1.0054	10	0.13853	T	0.58	.	5.5144	0.16898	0.0:0.4698:0.2462:0.284	.	1002;1040	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	R	1002;1040;1002;1002	ENSP00000417502:G1002R;ENSP00000345988:G1040R;ENSP00000335469:G1002R;ENSP00000412977:G1002R	ENSP00000335469:G1002R	G	-	1	0	PLCH1	156683415	0.000000	0.05858	0.004000	0.12327	0.030000	0.12068	-0.381000	0.07417	0.289000	0.22422	0.591000	0.81541	GGG	.		0.448	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	
PNMAL1	55228	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	46973078	46973078	+	Silent	SNP	A	A	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr19:46973078A>T	ENST00000313683.10	-	2	1520	c.1215T>A	c.(1213-1215)ccT>ccA	p.P405P	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Intron	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	405										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GCTGGCCCCGAGGGGCCTTCT	0.587																																					p.P405P		.											.	PNMAL1	68	0			c.T1215A						.						52.0	52.0	52.0					19																	46973078		2203	4300	6503	SO:0001819	synonymous_variant	55228	exon2			GCCCCGAGGGGCC	BC026026	CCDS33059.1, CCDS46124.1	19q13.32	2014-02-12	2012-02-09			ENSG00000182013		"""Paraneoplastic Ma antigens"""	25578	protein-coding gene	gene with protein product			"""PNMA-like 1"""			12477932	Standard	NM_018215		Approved	KIAA1183L, FLJ10781	uc002peq.4	Q86V59		ENST00000313683.10:c.1215T>A	19.37:g.46973078A>T		53.0	1.0		53.0	20.0	NM_018215	A8K2F3|Q5U638|Q8N3H4|Q9NVE8	Silent	SNP	ENST00000313683.10	37	CCDS33059.1																																																																																			.		0.587	PNMAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403929.1	NM_018215	
PPP1R10	5514	broad.mit.edu;bcgsc.ca	37	6	30574619	30574619	+	Missense_Mutation	SNP	C	C	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr6:30574619C>T	ENST00000376511.2	-	7	949	c.397G>A	c.(397-399)Gcc>Acc	p.A133T		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	133	Interaction with TOX4. {ECO:0000250}.|TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						AGGACTGAGGCCAATTTCCGG	0.448																																					p.A133T		.											.	PPP1R10	660	0			c.G397A						.						37.0	36.0	37.0					6																	30574619		2203	4300	6503	SO:0001583	missense	5514	exon7			CTGAGGCCAATTT	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.397G>A	6.37:g.30574619C>T	ENSP00000365694:p.Ala133Thr	196.0	1.0		170.0	11.0	NM_002714	O00405	Missense_Mutation	SNP	ENST00000376511.2	37	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627154	0.46944	.	.	ENSG00000204569	ENST00000376511;ENST00000537132	T	0.68331	-0.32	5.64	4.76	0.60689	Transcription factor IIS, N-terminal (4);Transcription elongation factor, TFIIS/CRSP70, N-terminal, sub-type (1);	0.049476	0.85682	D	0.000000	T	0.51924	0.1703	L	0.32530	0.975	0.54753	D	0.99998	P	0.41420	0.749	P	0.45753	0.492	T	0.61392	-0.7072	10	0.87932	D	0	-14.4624	14.7509	0.69525	0.1461:0.8538:0.0:0.0	.	133	Q96QC0	PP1RA_HUMAN	T	133	ENSP00000365694:A133T	ENSP00000365694:A133T	A	-	1	0	PPP1R10	30682598	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	6.889000	0.75627	1.352000	0.45808	-0.293000	0.09583	GCC	.		0.448	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714	
PRICKLE2	166336	broad.mit.edu;bcgsc.ca	37	3	64085071	64085071	+	Missense_Mutation	SNP	T	T	C	rs148689951	byFrequency	TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr3:64085071T>C	ENST00000295902.6	-	8	2776	c.2191A>G	c.(2191-2193)Agc>Ggc	p.S731G	PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S787G|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	731					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TCCTGGAAGCTCCGCTGGCGC	0.627													T|||	3	0.000599042	0.0023	0.0	5008	,	,		17581	0.0		0.0	False		,,,				2504	0.0				p.S731G		.											.	PRICKLE2	95	0			c.A2191G						.	T	GLY/SER	14,4392	21.2+/-45.6	0,14,2189	46.0	50.0	48.0		2191	5.3	1.0	3	dbSNP_134	48	0,8600		0,0,4300	yes	missense	PRICKLE2	NM_198859.3	56	0,14,6489	CC,CT,TT		0.0,0.3177,0.1076	benign	731/845	64085071	14,12992	2203	4300	6503	SO:0001583	missense	166336	exon8			GGAAGCTCCGCTG	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2191A>G	3.37:g.64085071T>C	ENSP00000295902:p.Ser731Gly	66.0	1.0		76.0	30.0	NM_198859	Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.103304	0.37145	0.003177	0.0	ENSG00000163637	ENST00000295902	D	0.85629	-2.01	5.33	5.33	0.75918	.	0.059448	0.64402	D	0.000001	T	0.72961	0.3526	N	0.20807	0.61	0.38469	D	0.947418	B	0.02656	0.0	B	0.04013	0.001	T	0.69308	-0.5179	10	0.36615	T	0.2	-42.048	8.1717	0.31258	0.0:0.1512:0.0:0.8488	.	731	Q7Z3G6	PRIC2_HUMAN	G	731	ENSP00000295902:S731G	ENSP00000295902:S731G	S	-	1	0	PRICKLE2	64060111	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.268000	0.43338	2.142000	0.66516	0.482000	0.46254	AGC	T|0.999;C|0.001		0.627	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859	
PRKDC	5591	ucsc.edu;bcgsc.ca;mdanderson.org	37	8	48732069	48732069	+	Silent	SNP	A	A	G			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr8:48732069A>G	ENST00000314191.2	-	68	9392	c.9336T>C	c.(9334-9336)aaT>aaC	p.N3112N	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.N3112N	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3113	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TACTAGAATAATTCTTaaaaa	0.299								Non-homologous end-joining																													.	Esophageal Squamous(79;1091 1253 12329 31680 40677)	.											.	PRKDC	1515	0			.						.						40.0	40.0	40.0					8																	48732069		1777	4052	5829	SO:0001819	synonymous_variant	5591	.			AGAATAATTCTTA		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.9336T>C	8.37:g.48732069A>G		165.0	1.0		163.0	27.0	.	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37																																																																																				.		0.299	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
PRSS35	167681	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	84233979	84233979	+	Silent	SNP	G	G	A			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr6:84233979G>A	ENST00000369700.3	+	2	996	c.819G>A	c.(817-819)ttG>ttA	p.L273L	PRSS35_ENST00000536636.1_Silent_p.L273L	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	273	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		ACGCTACCTTGGACTATGACT	0.522																																					p.L273L		.											.	PRSS35	91	0			c.G819A						.						71.0	71.0	71.0					6																	84233979		2203	4300	6503	SO:0001819	synonymous_variant	167681	exon2			TACCTTGGACTAT	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.819G>A	6.37:g.84233979G>A		66.0	1.0		56.0	17.0	NM_153362	A8K7B3|Q9BQP6	Silent	SNP	ENST00000369700.3	37	CCDS4999.1																																																																																			.		0.522	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362	
R3HDM4	91300	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	900139	900139	+	Silent	SNP	G	G	A	rs199817764	byFrequency	TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr19:900139G>A	ENST00000361574.5	-	5	556	c.483C>T	c.(481-483)ccC>ccT	p.P161P	R3HDM4_ENST00000587975.1_Silent_p.P140P	NM_138774.3	NP_620129.2	Q96D70	R3HD4_HUMAN	R3H domain containing 4	161	Arg-rich.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)										GTGTATAGGCGGGGTCCTCTG	0.697													G|||	8	0.00159744	0.0	0.0	5008	,	,		11544	0.006		0.0	False		,,,				2504	0.002				p.P161P		.											.	.	.	0			c.C483T						.						24.0	30.0	28.0					19																	900139		2202	4287	6489	SO:0001819	synonymous_variant	91300	exon5			ATAGGCGGGGTCC	BC012775	CCDS12048.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000198858	ENSG00000198858			28270	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 22"""	C19orf22		12477932	Standard	NM_138774		Approved	MGC16353	uc002lqg.2	Q96D70		ENST00000361574.5:c.483C>T	19.37:g.900139G>A		60.0	0.0		52.0	27.0	NM_138774		Silent	SNP	ENST00000361574.5	37	CCDS12048.1																																																																																			G|0.999;A|0.001		0.697	R3HDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458209.1	NM_138774	
RAPGEF5	9771	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	22347988	22347988	+	Missense_Mutation	SNP	A	A	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr7:22347988A>T	ENST00000405243.1	-	5	733	c.650T>A	c.(649-651)cTc>cAc	p.L217H	RAPGEF5_ENST00000344041.6_Missense_Mutation_p.L64H			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0					nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GGCAGGAATGAGAGGCACAAG	0.403																																					p.L64H		.											.	RAPGEF5	206	0			c.T191A						.						70.0	66.0	67.0					7																	22347988		1937	4120	6057	SO:0001583	missense	9771	exon5			GGAATGAGAGGCA	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000405243.1:c.650T>A	7.37:g.22347988A>T	ENSP00000384870:p.Leu217His	61.0	0.0		64.0	19.0	NM_012294	A4D140|Q8IXU5	Missense_Mutation	SNP	ENST00000405243.1	37		.	.	.	.	.	.	.	.	.	.	A	10.46	1.357644	0.24598	.	.	ENSG00000136237	ENST00000344041;ENST00000405243	T;T	0.13778	2.56;2.56	5.92	5.92	0.95590	.	0.415413	0.20130	N	0.098603	T	0.14700	0.0355	L	0.38175	1.15	0.39726	D	0.971546	B	0.18741	0.03	B	0.15052	0.012	T	0.02781	-1.1111	10	0.72032	D	0.01	.	16.371	0.83361	1.0:0.0:0.0:0.0	.	64	A8MQ07	.	H	64;217	ENSP00000343656:L64H;ENSP00000384870:L217H	ENSP00000343656:L64H	L	-	2	0	RAPGEF5	22314513	0.990000	0.36364	0.998000	0.56505	0.964000	0.63967	4.549000	0.60726	2.267000	0.75376	0.477000	0.44152	CTC	.		0.403	RAPGEF5-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000326591.1	NM_012294	
RP1L1	94137	ucsc.edu;bcgsc.ca	37	8	10467415	10467415	+	Missense_Mutation	SNP	C	C	A			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr8:10467415C>A	ENST00000382483.3	-	4	4416	c.4193G>T	c.(4192-4194)gGa>gTa	p.G1398V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1478	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.		Missing (in allele RP1L1-1).|Missing (in allele RP1L1-2).|Missing (in allele RP1L1-3).|Missing (in allele RP1L1-4).|Missing (in allele RP1L1-5).		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTCTGGAAGTCCTTCCTCTTT	0.557																																					p.G1398V		.											.	RP1L1	139	0			c.G4193T						.						345.0	365.0	359.0					8																	10467415		1966	4150	6116	SO:0001583	missense	94137	exon4			GGAAGTCCTTCCT	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4193G>T	8.37:g.10467415C>A	ENSP00000371923:p.Gly1398Val	49.0	0.0		41.0	4.0	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	c	8.363	0.833607	0.16820	.	.	ENSG00000183638	ENST00000382483	T	0.20881	2.04	2.62	-0.61	0.11604	.	.	.	.	.	T	0.13628	0.0330	L	0.29908	0.895	0.23376	N	0.997802	P	0.52316	0.952	B	0.43445	0.42	T	0.15178	-1.0446	9	0.62326	D	0.03	-14.4941	3.2303	0.06746	0.2022:0.4981:0.0:0.2997	.	1398	A6NKC6	.	V	1398	ENSP00000371923:G1398V	ENSP00000371923:G1398V	G	-	2	0	RP1L1	10504825	0.000000	0.05858	0.082000	0.20525	0.028000	0.11728	0.117000	0.15583	-0.152000	0.11156	-0.436000	0.05848	GGA	.		0.557	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
SHROOM4	57477	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	50378093	50378093	+	Missense_Mutation	SNP	C	C	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chrX:50378093C>T	ENST00000289292.7	-	4	1263	c.980G>A	c.(979-981)tGc>tAc	p.C327Y	SHROOM4_ENST00000460112.3_Missense_Mutation_p.C211Y|SHROOM4_ENST00000376020.2_Missense_Mutation_p.C327Y			Q9ULL8	SHRM4_HUMAN	shroom family member 4	327					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCCACTGAGGCAACAGAACCT	0.552																																					p.C327Y		.											.	SHROOM4	131	0			c.G980A						.						59.0	43.0	48.0					X																	50378093		2203	4300	6503	SO:0001583	missense	57477	exon4			CTGAGGCAACAGA	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.980G>A	X.37:g.50378093C>T	ENSP00000289292:p.Cys327Tyr	76.0	0.0		101.0	32.0	NM_020717	A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	C	4.540	0.100320	0.08731	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.15603	2.86;2.86;2.41	5.81	4.93	0.64822	.	0.331162	0.27668	N	0.018342	T	0.22166	0.0534	M	0.65975	2.015	0.39464	D	0.967615	P	0.49961	0.93	P	0.44732	0.459	T	0.03773	-1.1005	10	0.59425	D	0.04	.	8.6758	0.34179	0.171:0.667:0.1619:0.0	.	327	Q9ULL8	SHRM4_HUMAN	Y	327;327;211	ENSP00000289292:C327Y;ENSP00000365188:C327Y;ENSP00000421450:C211Y	ENSP00000289292:C327Y	C	-	2	0	SHROOM4	50394833	0.963000	0.33076	0.924000	0.36721	0.191000	0.23601	2.125000	0.42016	1.171000	0.42768	0.600000	0.82982	TGC	.		0.552	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717	
SLC16A6	9120	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	66268836	66268836	+	Missense_Mutation	SNP	A	A	G			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr17:66268836A>G	ENST00000327268.4	-	5	613	c.449T>C	c.(448-450)aTa>aCa	p.I150T	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.I150T	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	150					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TGCAGTGACTATGGAACGTCT	0.428																																					p.I150T		.											.	SLC16A6	90	0			c.T449C						.						190.0	165.0	174.0					17																	66268836		2203	4300	6503	SO:0001583	missense	9120	exon5			GTGACTATGGAAC	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.449T>C	17.37:g.66268836A>G	ENSP00000319991:p.Ile150Thr	107.0	0.0		135.0	32.0	NM_001174166	Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.296930	0.23650	.	.	ENSG00000108932	ENST00000327268	T	0.38722	1.12	5.41	5.41	0.78517	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.443462	0.22581	N	0.058217	T	0.31167	0.0788	N	0.14661	0.345	0.32400	N	0.55204	B	0.29955	0.263	B	0.32928	0.155	T	0.48080	-0.9066	10	0.87932	D	0	.	14.9216	0.70843	1.0:0.0:0.0:0.0	.	150	O15403	MOT7_HUMAN	T	150	ENSP00000319991:I150T	ENSP00000319991:I150T	I	-	2	0	SLC16A6	63780431	0.995000	0.38212	0.010000	0.14722	0.383000	0.30230	8.673000	0.91186	2.171000	0.68590	0.533000	0.62120	ATA	.		0.428	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694	
SLC45A3	85414	broad.mit.edu;bcgsc.ca	37	1	205632672	205632672	+	Missense_Mutation	SNP	C	C	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr1:205632672C>T	ENST00000367145.3	-	3	542	c.247G>A	c.(247-249)Ggc>Agc	p.G83S	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	83					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CGGCGGCGGCCATAGCGTCCA	0.637			T	"""ETV1, ETV5, ELK4, ERG"""	prostate																																p.G83S		.		Dom	yes		1	1q32	85414	"""solute carrier family 45, member 3"""		E	.	SLC45A3	98	0			c.G247A						.						24.0	27.0	26.0					1																	205632672		2150	4202	6352	SO:0001583	missense	85414	exon3			GGCGGCCATAGCG	AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.247G>A	1.37:g.205632672C>T	ENSP00000356113:p.Gly83Ser	52.0	0.0		56.0	4.0	NM_033102	A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	37	CCDS1458.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.859754	0.71834	.	.	ENSG00000158715	ENST00000367145	T	0.76968	-1.06	4.86	4.86	0.63082	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.88001	0.6320	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89177	0.3541	10	0.87932	D	0	-19.4385	18.1316	0.89603	0.0:1.0:0.0:0.0	.	83	Q96JT2	S45A3_HUMAN	S	83	ENSP00000356113:G83S	ENSP00000356113:G83S	G	-	1	0	SLC45A3	203899295	1.000000	0.71417	0.996000	0.52242	0.090000	0.18270	7.575000	0.82447	2.676000	0.91093	0.655000	0.94253	GGC	.		0.637	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102	
SLC9A8	23315	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	48497559	48497559	+	Silent	SNP	C	C	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr20:48497559C>T	ENST00000361573.2	+	13	1299	c.1257C>T	c.(1255-1257)atC>atT	p.I419I	SLC9A8_ENST00000539601.1_Silent_p.I200I|SLC9A8_ENST00000417961.1_Silent_p.I435I|SLC9A8_ENST00000541138.1_Silent_p.I119I			Q9Y2E8	SL9A8_HUMAN	solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8	419					ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	potassium:proton antiporter activity (GO:0015386)|sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TGATGTTCATCATGTGGTTTA	0.458																																					p.I435I		.											.	SLC9A8	91	0			c.C1305T						.						144.0	128.0	133.0					20																	48497559		2203	4300	6503	SO:0001819	synonymous_variant	23315	exon13			GTTCATCATGTGG	AB023156	CCDS13421.1, CCDS58774.1	20q13.13	2013-05-22	2012-03-22		ENSG00000197818	ENSG00000197818		"""Solute carriers"""	20728	protein-coding gene	gene with protein product		612730	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 8"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 8"""			12409279	Standard	NM_001260491		Approved	KIAA0939, NHE8	uc002xuv.2	Q9Y2E8	OTTHUMG00000032710	ENST00000361573.2:c.1257C>T	20.37:g.48497559C>T		115.0	0.0		113.0	34.0	NM_001260491	B4DTQ8|Q2M1U9|Q68CZ8|Q9BX15|Q9Y507	Silent	SNP	ENST00000361573.2	37	CCDS13421.1																																																																																			.		0.458	SLC9A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106483.3	XM_030524	
STRN4	29888	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	47231256	47231256	+	Missense_Mutation	SNP	G	G	C			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr19:47231256G>C	ENST00000263280.6	-	8	1097	c.1048C>G	c.(1048-1050)Cgg>Ggg	p.R350G	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000391910.3_Missense_Mutation_p.R350G|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000539396.1_Missense_Mutation_p.R231G	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	350						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		AGTTTGACCCGACGGCTTTCT	0.657																																					p.R350G		.											.	STRN4	90	0			c.C1048G						.						46.0	41.0	43.0					19																	47231256		2203	4300	6503	SO:0001583	missense	29888	exon8			TGACCCGACGGCT	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1048C>G	19.37:g.47231256G>C	ENSP00000263280:p.Arg350Gly	50.0	0.0		51.0	13.0	NM_001039877	A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.588039	0.66105	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.70631	-0.5;-0.32;-0.18	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.80592	0.4652	M	0.72353	2.195	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.74674	0.984;0.972	T	0.80511	-0.1350	10	0.45353	T	0.12	-20.9293	10.2599	0.43421	0.0:0.0:0.8026:0.1974	.	350;350	F8VYA6;Q9NRL3	.;STRN4_HUMAN	G	350;350;231	ENSP00000375777:R350G;ENSP00000263280:R350G;ENSP00000440901:R231G	ENSP00000263280:R350G	R	-	1	2	STRN4	51923096	0.999000	0.42202	0.996000	0.52242	0.984000	0.73092	2.112000	0.41892	2.107000	0.64212	0.561000	0.74099	CGG	.		0.657	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2		
TMEM30B	161291	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	14	61747549	61747549	+	Missense_Mutation	SNP	C	C	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr14:61747549C>T	ENST00000555868.1	-	1	1009	c.317G>A	c.(316-318)gGc>gAc	p.G106D	TMEM30B_ENST00000355702.2_Missense_Mutation_p.G106D|TMEM30B_ENST00000557163.1_5'UTR	NM_001017970.2	NP_001017970.1	Q3MIR4	CC50B_HUMAN	transmembrane protein 30B	106					lipid transport (GO:0006869)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.107)|BRCA - Breast invasive adenocarcinoma(234;0.181)		GTACACTGGGCCCTGGAAGAG	0.697																																					p.G106D		.											.	TMEM30B	90	0			c.G317A						.						10.0	10.0	10.0					14																	61747549		2118	4155	6273	SO:0001583	missense	161291	exon1			ACTGGGCCCTGGA	AK091169	CCDS32093.1	14q23.1	2006-09-20				ENSG00000182107			27254	protein-coding gene	gene with protein product		611029				15375526	Standard	NM_001017970		Approved	CDC50B	uc001xfl.3	Q3MIR4		ENST00000555868.1:c.317G>A	14.37:g.61747549C>T	ENSP00000450842:p.Gly106Asp	14.0	0.0		25.0	9.0	NM_001017970	B3KR84|Q14D00	Missense_Mutation	SNP	ENST00000555868.1	37	CCDS32093.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498253	0.85069	.	.	ENSG00000182107	ENST00000555868;ENST00000355702	.	.	.	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.75339	0.3836	M	0.85041	2.73	0.49798	D	0.999824	P	0.52170	0.951	P	0.54270	0.747	T	0.80190	-0.1485	9	0.56958	D	0.05	-16.3792	14.0112	0.64498	0.0:1.0:0.0:0.0	.	106	Q3MIR4	CC50B_HUMAN	D	106	.	ENSP00000347930:G106D	G	-	2	0	TMEM30B	60817302	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.314000	0.51943	2.163000	0.67991	0.650000	0.86243	GGC	.		0.697	TMEM30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413358.1	XM_090844	
WDR87	83889	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	38385769	38385769	+	Missense_Mutation	SNP	T	T	A			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr19:38385769T>A	ENST00000303868.5	-	4	681	c.457A>T	c.(457-459)Atg>Ttg	p.M153L	WDR87_ENST00000447313.2_Missense_Mutation_p.M192L	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	153										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						TCACCTGGCATGGAGACCATG	0.597																																					p.M153L		.											.	.	.	0			c.A457T						.						51.0	52.0	52.0					19																	38385769		692	1591	2283	SO:0001583	missense	83889	exon4			CTGGCATGGAGAC	AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.457A>T	19.37:g.38385769T>A	ENSP00000368025:p.Met153Leu	65.0	0.0		45.0	22.0	NM_031951	Q9BWV9	Missense_Mutation	SNP	ENST00000303868.5	37	CCDS46063.1	.	.	.	.	.	.	.	.	.	.	T	1.886	-0.456588	0.04540	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.73363	-0.74;-0.74	5.77	2.49	0.30216	.	0.239248	0.37530	N	0.002058	T	0.43277	0.1240	N	0.05230	-0.09	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.08055	0.003;0.003	T	0.34551	-0.9824	10	0.02654	T	1	-9.5125	5.6572	0.17648	0.0:0.0857:0.3381:0.5762	.	153;192	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	L	192;153	ENSP00000405012:M192L;ENSP00000368025:M153L	ENSP00000368025:M153L	M	-	1	0	WDR87	43077609	0.532000	0.26346	0.859000	0.33776	0.021000	0.10359	0.189000	0.17037	0.421000	0.25980	0.523000	0.50628	ATG	.		0.597	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314628.2	XM_940478	
ZNF512B	57473	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	62594086	62594086	+	Missense_Mutation	SNP	C	C	T			TCGA-GJ-A6C0-01A-12D-A30V-10	TCGA-GJ-A6C0-10A-01D-A30V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	36b33892-0a4d-42f1-8a5c-b51efd4d40a1	6fbe0c9d-a6ae-4737-8e50-926b0b027cdb	g.chr20:62594086C>T	ENST00000450537.1	-	13	2077	c.2017G>A	c.(2017-2019)Ggt>Agt	p.G673S	ZNF512B_ENST00000217130.3_Missense_Mutation_p.G673S|ZNF512B_ENST00000369888.1_Missense_Mutation_p.G673S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	673					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGCTCCACACCCAGCGGGTCC	0.692																																					p.G673S		.											.	ZNF512B	90	0			c.G2017A						.						10.0	11.0	11.0					20																	62594086		2180	4261	6441	SO:0001583	missense	57473	exon13			CCACACCCAGCGG	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.2017G>A	20.37:g.62594086C>T	ENSP00000393795:p.Gly673Ser	77.0	0.0		69.0	21.0	NM_020713	Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.431940	0.62844	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.22134	1.97;1.97;1.97	5.22	4.27	0.50696	.	0.135951	0.46442	D	0.000283	T	0.10423	0.0255	N	0.03608	-0.345	0.35703	D	0.815806	B	0.06786	0.001	B	0.13407	0.009	T	0.14559	-1.0468	10	0.35671	T	0.21	-12.2131	14.0508	0.64734	0.0:0.926:0.0:0.074	.	673	Q96KM6	Z512B_HUMAN	S	673	ENSP00000358904:G673S;ENSP00000393795:G673S;ENSP00000217130:G673S	ENSP00000217130:G673S	G	-	1	0	ZNF512B	62064530	0.988000	0.35896	1.000000	0.80357	0.936000	0.57629	4.424000	0.59868	2.434000	0.82447	0.563000	0.77884	GGT	.		0.692	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713	
